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 GPRASP2 114928 broad.mit.edu 37 X 101972267 101972267 + Missense_Mutation SNP G G T TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chrX:101972267G>T ENST00000543253.1 + 5 3389 c.2470G>T c.(2470-2472)Gcc>Tcc p.A824S GPRASP2_ENST00000535209.1_Missense_Mutation_p.A824S|GPRASP2_ENST00000332262.5_Missense_Mutation_p.A824S NM_001004051.3|NM_001184874.2|NM_001184876.2 NP_001004051.1|NP_001171803.1|NP_001171805.1 G protein-coupled receptor associated sorting protein 2 breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 30 GCAACTACAAGCCCAAATAGA 0.403000 4 73 1.024e-07 1.09137e-07 1 1 0 PKDREJ 10343 broad.mit.edu 37 22 46654307 46654307 + Missense_Mutation SNP G G A TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr22:46654307G>A ENST00000253255.5 - 1 4912 c.4913C>T c.(4912-4914)aCg>aTg p.T1638M NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1638 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) GGGTTTATTCGTTCTGAAGCC 0.393000 9 37 0 0 1 0 0 SPOP 8405 broad.mit.edu 37 17 47696405 47696405 + Missense_Mutation SNP C C A TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr17:47696405C>A ENST00000393331.3 - 7 888 c.418G>T c.(418-420)Gat>Tat p.D140Y SPOP_ENST00000504102.1_Missense_Mutation_p.D140Y|SPOP_ENST00000503676.1_Missense_Mutation_p.D140Y|SPOP_ENST00000393328.2_Missense_Mutation_p.D140Y|SPOP_ENST00000347630.2_Missense_Mutation_p.D140Y NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 140 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.D140N(1) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 AAAAGAAAATCTCTACGGATG 0.463000 Prostate(2;0.17) 108 9 1.85599e-38 2.14764e-38 1 1 0 CEP128 145508 broad.mit.edu 37 14 81244369 81244369 + Missense_Mutation SNP T T C TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr14:81244369T>C ENST00000555265.1 - 16 2608 c.2233A>G c.(2233-2235)Aat>Gat p.N745D CEP128_ENST00000281129.3_Missense_Mutation_p.N745D Q6ZU80 CE128_HUMAN centrosomal protein 128kDa 745 centriole|spindle pole NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 TTAGCCATATTCTTCTCTTCT 0.363000 25 24 0 0 1 0 0 GIMAP1 170575 broad.mit.edu 37 7 150417642 150417642 + Missense_Mutation SNP C C T TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr7:150417642C>T ENST00000307194.5 + 3 690 c.550C>T c.(550-552)Cgg>Tgg p.R184W NM_130759.3 NP_570115.1 GTPase, IMAP family member 1 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GTGCGGGGGCCGGGTCTGTGC 0.677000 19 44 0 0 1 0 0 TOX 9760 broad.mit.edu 37 8 59851928 59851928 + Missense_Mutation SNP A A G TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr8:59851928A>G ENST00000361421.1 - 3 564 c.344T>C c.(343-345)cTc>cCc p.L115P NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 115 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) GATTTCAGGGAGGTCCATGTT 0.478000 8 141 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227896894 227896894 + Missense_Mutation SNP G G A TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr2:227896894G>A ENST00000396625.3 - 39 3883 c.3676C>T c.(3676-3678)Cgt>Tgt p.R1226C COL4A4_ENST00000329662.7_Missense_Mutation_p.R1226C NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1226 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TTCTTTCCACGAGGACCTGGA 0.527000 38 31 0 0 1 0 0 TGM5 9333 broad.mit.edu 37 15 43531185 43531185 + Missense_Mutation SNP G G A rs141830093 TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr15:43531185G>A ENST00000220420.5 - 9 1182 c.1175C>T c.(1174-1176)aCg>aTg p.T392M TGM5_ENST00000349114.4_Missense_Mutation_p.T310M NM_201631.3 NP_963925.2 O43548 TGM5_HUMAN transglutaminase 5 392 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) CACAAAGGGCGTGTCATAGTT 0.557000 4 40 0 0 1 0 0 IGFBPL1 347252 broad.mit.edu 37 9 38411522 38411522 + Nonsense_Mutation SNP C C A TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr9:38411522C>A ENST00000377694.1 - 4 734 c.712G>T c.(712-714)Gag>Tag p.E238* NM_001007563.1 NP_001007564.1 Q8WX77 IBPL1_HUMAN insulin-like growth factor binding protein-like 1 238 Ig-like C2-type. regulation of cell growth extracellular region insulin-like growth factor binding endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 4 GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116) TACACACCCTCATCCTCCTTT 0.448000 11 17 1.08611e-07 1.14253e-07 1 1 0 CST2 1470 broad.mit.edu 37 20 23807168 23807168 + Missense_Mutation SNP C C T TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr20:23807168C>T ENST00000304725.2 - 1 200 c.130G>A c.(130-132)Gta>Ata p.V44I NM_001322.2 NP_001313.1 P09228 CYTT_HUMAN cystatin SA 44 extracellular region cysteine-type endopeptidase inhibitor activity breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 10 GCACGCTGTACCCGCTCATCA 0.592000 29 37 0 0 1 0 0 GFOD1 54438 broad.mit.edu 37 6 13365867 13365867 + Missense_Mutation SNP C C T TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr6:13365867C>T ENST00000379287.3 - 2 945 c.281G>A c.(280-282)cGc>cAc p.R94H GFOD1_ENST00000379284.1_5'UTR NM_018988.3 NP_061861.1 Q9NXC2 GFOD1_HUMAN glucose-fructose oxidoreductase domain containing 1 94 extracellular region binding|oxidoreductase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2) 18 Breast(50;0.0296)|Ovarian(93;0.0454) all_hematologic(90;0.135) Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108) CGTGGCCGTGCGGTCGCAGAT 0.657000 32 74 0 0 1 0 0 PKNOX2 63876 broad.mit.edu 37 11 125301240 125301240 + Silent SNP G G A TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr11:125301240G>A ENST00000298282.9 + 13 1642 c.1371G>A c.(1369-1371)acG>acA p.T457T PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Silent_p.T393T NM_022062.2 NP_071345.2 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 457 nucleus sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 29 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) AGCTGCAGACGACAAATGTCA 0.582000 28 20 0 0 1 0 0 ALAS2 212 broad.mit.edu 37 X 55042071 55042071 + Missense_Mutation SNP C C T TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chrX:55042071C>T ENST00000330807.5 - 8 1245 c.1108G>A c.(1108-1110)Gct>Act p.A370T ALAS2_ENST00000335854.4_Missense_Mutation_p.A333T|ALAS2_ENST00000396198.3_Missense_Mutation_p.A357T|ALAS2_ENST00000498636.1_5'UTR NM_000032.4 NP_000023.2 P22557 HEM0_HUMAN aminolevulinate, delta-, synthase 2 370 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 Glycine(DB00145) CCAATCCCAGCGCCCCGGGAC 0.527000 27 53 0 0 1 0 0 FAM24B 196792 broad.mit.edu 37 10 124608784 124608784 + Silent SNP G G A TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr10:124608784G>A ENST00000368898.3 - 4 554 c.264C>T c.(262-264)tgC>tgT p.C88C FAM24B_ENST00000462859.1_5'UTR|CUZD1_ENST00000368904.1_5'UTR|FAM24B_ENST00000368896.1_Silent_p.C88C|CUZD1_ENST00000545804.1_Intron NM_152644.2 NP_689857.2 Q8N5W8 FA24B_HUMAN family with sequence similarity 24, member B 88 extracellular region endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205) Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141) CATTTATGTCGCAACAGCAAG 0.448000 14 41 0 0 1 0 0 AMER2 219287 broad.mit.edu 37 13 25744725 25744725 + Missense_Mutation SNP C C T TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr13:25744725C>T ENST00000515384.1 - 1 1700 c.1033G>A c.(1033-1035)Gcc>Acc p.A345T AMER2_ENST00000381853.3_Intron|AMER2_ENST00000357816.2_Intron APC membrane recruitment protein 2 GGGTCTggggcggcgggcgcc 0.627000 8 18 0 0 1 0 0 MT-ND4 4538 broad.mit.edu 37 MT 11120 11120 + Missense_Mutation SNP T T C TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chrM:11120T>C ENST00000361381.2 + 1 361 c.361T>C c.(361-363)Ttc>Ctc p.121_121insL mitochondrially encoded NADH dehydrogenase 4 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1) 13 TATTTTATATCTTCTTCGAAA 0.418000 28 112 0 0 1 0 0 HOOK3 84376 broad.mit.edu 37 8 42761327 42761327 + Missense_Mutation SNP T T A TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr8:42761327T>A ENST00000307602.4 + 2 269 c.69T>A c.(67-69)ttT>ttA p.F23L NM_032410.3 NP_115786.1 Q86VS8 HOOK3_HUMAN hook microtubule-tethering protein 3 23 Sufficient for interaction with microtubules. cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport cis-Golgi network|FHF complex|microtubule|pericentriolar material identical protein binding|microtubule binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 31 Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) TCCAGACATTTAATGTGGATG 0.398000 T RET papillary thyroid 8 290 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145293414 145293414 + Silent SNP A A G TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr1:145293414A>G ENST00000342960.5 + 1 44 c.9A>G c.(7-9)gtA>gtG p.V3V RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Silent_p.V3V NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GCATGGTGGTATCAGCCGGCC 0.493000 38 921 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144941352 144941352 + Missense_Mutation SNP G G A TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr8:144941352G>A ENST00000525985.1 - 2 6141 c.6070C>T c.(6070-6072)Cgg>Tgg p.R2024W P58107 EPIPL_HUMAN epiplakin 1 2024 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) AGTGGGAGCCGGTGGTGGTGC 0.612000 6 100 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100551690 100551690 + Silent SNP T T G TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr7:100551690T>G ENST00000319509.7 + 1 441 c.441T>G c.(439-441)ccT>ccG p.P147P mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 AAACATCTCCTGCACCTACTA 0.493000 12 392 0 0 1 0 0 GMIP 51291 broad.mit.edu 37 19 19741121 19741121 + Nonsense_Mutation SNP G G C TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr19:19741121G>C ENST00000203556.4 - 21 2701 c.2564C>G c.(2563-2565)tCa>tGa p.S855* GMIP_ENST00000445806.2_Nonsense_Mutation_p.S826*|GMIP_ENST00000587238.1_Nonsense_Mutation_p.S829* NM_016573.2 NP_057657.2 Q9P107 GMIP_HUMAN GEM interacting protein 855 negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 CCCCAGGAGTGAGTCCTCTGG 0.607000 18 69 0 0 1 0 0 LINC00264 0 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 5 64 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53674334 53674334 + Missense_Mutation SNP G G C TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chrX:53674334G>C ENST00000342160.3 - 5 785 c.328C>G c.(328-330)Cgg>Ggg p.R110G HUWE1_ENST00000262854.6_Missense_Mutation_p.R110G|HUWE1_ENST00000218328.8_Missense_Mutation_p.R110G Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 110 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 TACAGATGCCGGGAAAAGCTG 0.438000 25 26 0 0 1 0 0 SULT1C3 442038 broad.mit.edu 37 2 108868909 108868909 + Silent SNP C C T TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr2:108868909C>T ENST00000329106.2 + 2 261 c.261C>T c.(259-261)caC>caT p.H87H SULT1C3_ENST00000376700.1_Silent_p.H87H NM_001008743.1 NP_001008743.1 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 3 87 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 TAGATAGACACGCTTTCCTTG 0.373000 12 25 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136589310 136589310 + Missense_Mutation SNP C C G TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr6:136589310C>G ENST00000531224.1 - 10 2639 c.2387G>C c.(2386-2388)cGa>cCa p.R796P BCLAF1_ENST00000031135.9_Missense_Mutation_p.R14P|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R794P|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R794P|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R794P|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R796P|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R623P NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 796 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) AAAGGTTCCTCGTGGTCGGCT 0.358000 48 77 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88963677 88963677 + Missense_Mutation SNP C C A TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr7:88963677C>A ENST00000333190.4 + 4 1990 c.1381C>A c.(1381-1383)Ctt>Att p.L461I NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 461 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) GCCTACGGAACTTCTGCTCTT 0.423000 HNSCC(36;0.09) 17 39 1.37285e-15 1.48268e-15 1 1 0 ANXA13 312 broad.mit.edu 37 8 124693594 124693594 + Missense_Mutation SNP G G T TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr8:124693594G>T ENST00000262219.6 - 12 1027 c.960C>A c.(958-960)gaC>gaA p.D320E ANXA13_ENST00000419625.1_Missense_Mutation_p.D279E NM_001003954.1 NP_001003954.1 P27216 ANX13_HUMAN annexin A13 279 cell differentiation plasma membrane calcium ion binding|calcium-dependent phospholipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 25 Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00288) TCCCCTGAAGGTCCACCTGTA 0.438000 48 294 3.77016e-25 4.30117e-25 1 1 0 RPL31P11 0 broad.mit.edu 37 1 161654728 161654728 + RNA SNP G G A TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr1:161654728G>A ENST00000426558.1 - 0 314 NR_002595.1 TCCTCATTACGTTTTCGGGAC 0.438000 20 18 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78790136 78790136 + Missense_Mutation SNP T T C rs62556589 TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr9:78790136T>C ENST00000376767.3 + 14 2503 c.1991T>C c.(1990-1992)aTg>aCg p.M664T PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 tggaatggaatgaaatggaat 0.423000 4 23 0 0 1 0 0 FCRL5 83416 broad.mit.edu 37 1 157516848 157516848 + Missense_Mutation SNP T T A TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr1:157516848T>A ENST00000361835.3 - 3 349 c.192A>T c.(190-192)aaA>aaT p.K64N FCRL5_ENST00000356953.4_Missense_Mutation_p.K64N|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368188.2_Missense_Mutation_p.K64N|FCRL5_ENST00000368190.3_Missense_Mutation_p.K64N|FCRL5_ENST00000368189.3_Missense_Mutation_p.K64N NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 64 Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) TTAGTATTTCTTTCCCAAGGT 0.502000 23 89 0 0 1 0 0 TNFAIP3 7128 broad.mit.edu 37 6 138200072 138200072 + Missense_Mutation SNP G G A TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr6:138200072G>A ENST00000237289.4 + 7 1556 c.1490G>A c.(1489-1491)cGt>cAt p.R497H NM_001270507.1|NM_001270508.1|NM_006290.3 NP_001257436.1|NP_001257437.1|NP_006281.1 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 497 Interaction with NAF1 (By similarity). anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(25) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 225 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) TTTTGTGAACGTTGCCACAAC 0.597000 """D, N, F""" """marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma""" 8 61 0 0 1 0 0 HLA-DRA 3122 broad.mit.edu 37 6 32410986 32410986 + Missense_Mutation SNP C C T rs61117681 TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr6:32410986C>T ENST00000395388.2 + 3 462 c.353C>T c.(352-354)aCa>aTa p.T118I HLA-DRA_ENST00000374982.5_Intron NM_019111.4 NP_061984.2 P01903 DRA_HUMAN major histocompatibility complex, class II, DR alpha 118 Alpha-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 19 ACTGTGCTCACAAACAGCCCT 0.512000 T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of 7 57 0 0 1 0 0 KIF26B 55083 broad.mit.edu 37 1 245851417 245851417 + Missense_Mutation SNP G G A TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr1:245851417G>A ENST00000366518.4 + 9 4093 c.3989G>A c.(3988-3990)gGc>gAc p.G1330D KIF26B_ENST00000407071.2_Missense_Mutation_p.G1711D Q2KJY2 KI26B_HUMAN kinesin family member 26B 1711 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) AGGAGCCTGGGCCGCAGCGCC 0.746000 8 6 0 0 1 0 0 C11orf1 64776 broad.mit.edu 37 11 111753232 111753232 + Silent SNP T T C TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr11:111753232T>C ENST00000260276.3 + 2 523 c.186T>C c.(184-186)aaT>aaC p.N62N C11orf1_ENST00000530214.1_Silent_p.N62N|C11orf1_ENST00000528125.1_Silent_p.N16N|C11orf1_ENST00000529270.1_Silent_p.N102N NM_022761.2 NP_073598.1 Q9H5F2 CK001_HUMAN chromosome 11 open reading frame 1 62 nucleus kidney(2)|lung(3) 5 all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281) all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06) CTAATGAGAATACCTATTCAA 0.463000 10 27 0 0 1 0 0 ABCC2 1244 broad.mit.edu 37 10 101559103 101559103 + Missense_Mutation SNP C C T rs149854486 TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr10:101559103C>T ENST00000370449.4 + 8 1120 c.1007C>T c.(1006-1008)aCg>aTg p.T336M NM_000392.3 NP_000383.1 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 336 ABC transmembrane type-1 1. apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GACATCTTCACGTTTGTGAGT 0.473000 15 183 0 0 1 0 0 ZMAT4 79698 broad.mit.edu 37 8 40438702 40438702 + Missense_Mutation SNP C C G TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr8:40438702C>G ENST00000297737.6 - 6 802 c.656G>C c.(655-657)gGa>gCa p.G219A ZMAT4_ENST00000315769.7_Missense_Mutation_p.G143A NM_024645.2 NP_078921.1 Q9H898 ZMAT4_HUMAN zinc finger, matrin-type 4 219 nucleus DNA binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) GTGTTTAGATCCTTTCAGATG 0.408000 227 31 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21805153 21805153 + Silent SNP G G A TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr7:21805153G>A ENST00000328843.6 + 56 9100 c.9069G>A c.(9067-9069)caG>caA p.Q3023Q DNAH11_ENST00000409508.3_Silent_p.Q3016Q Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3023 AAA 4 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CGTGGCCGCAGGAGGCTCTGG 0.542000 Kartagener syndrome 15 41 0 0 1 0 0 GTF2H1 2965 broad.mit.edu 37 11 18369434 18369434 + Missense_Mutation SNP G G C TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr11:18369434G>C ENST00000265963.4 + 9 1181 c.1021G>C c.(1021-1023)Gat>Cat p.D341H GTF2H1_ENST00000534641.1_Missense_Mutation_p.D225H|GTF2H1_ENST00000524753.4_Missense_Mutation_p.D137H|GTF2H1_ENST00000530496.2_Missense_Mutation_p.D29H|GTF2H1_ENST00000453096.2_Missense_Mutation_p.D341H NM_005316.3 NP_005307.1 P32780 TF2H1_HUMAN general transcription factor IIH, polypeptide 1, 62kDa 341 mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex protein binding endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 AAATTCCGGAGATGCAGACTG 0.393000 Nucleotide excision repair (NER) 6 44 0 0 1 0 0 U2AF1 7307 broad.mit.edu 37 21 44524456 44524456 + Missense_Mutation SNP G G A TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr21:44524456G>A ENST00000291552.4 - 2 193 c.101C>T c.(100-102)tCt>tTt p.S34F U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000398137.1_5'UTR NM_006758.2 NP_006749.1 Q01081 U2AF1_HUMAN U2 small nuclear RNA auxiliary factor 1 34 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription Cajal body|catalytic step 2 spliceosome|nuclear speck nucleotide binding|RNA binding|zinc ion binding p.S34F(45)|p.S34Y(12) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 126 GTGCAACCGAGAGCACCTGTC 0.358000 Mis """CLL, MDS""" 13 26 0 0 1 0 0 UBXN10 127733 broad.mit.edu 37 1 20517119 20517119 + Missense_Mutation SNP T T A TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr1:20517119T>A ENST00000375099.3 + 2 149 c.65T>A c.(64-66)gTt>gAt p.V22D NM_152376.3 NP_689589.1 Q96LJ8 UBX10_HUMAN UBX domain protein 10 22 endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2) 14 AGCACAGCAGTTGACAGCCTC 0.512000 9 116 0 0 1 0 0 GART 2618 broad.mit.edu 37 21 34878390 34878390 + Missense_Mutation SNP A A G TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr21:34878390A>G ENST00000381831.3 - 19 2737 c.2474T>C c.(2473-2475)aTa>aCa p.I825T GART_ENST00000543717.1_Missense_Mutation_p.I377T|GART_ENST00000381839.3_Missense_Mutation_p.I825T|GART_ENST00000381815.4_Missense_Mutation_p.I825T NM_001136005.1 NP_001129477.1 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase 825 GART. 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1) 31 Pemetrexed(DB00642) AGTACTGTCTATAAGTGCTTG 0.428000 29 55 0 0 1 0 0 PRPF4B 8899 broad.mit.edu 37 6 4021681 4021681 + Missense_Mutation SNP T T G TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr6:4021681T>G ENST00000337659.6 + 1 122 c.22T>G c.(22-24)Tcg>Gcg p.S8A NM_003913.4 NP_003904.3 Q13523 PRP4B_HUMAN pre-mRNA processing factor 4B 8 catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 22 Ovarian(93;0.0925) all_hematologic(90;0.0895) GGAGACCCAGTCGCTACGGGA 0.662000 11 10 0 0 1 0 0 ITGA5 3678 broad.mit.edu 37 12 54799462 54799462 + Silent SNP G G A TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr12:54799462G>A ENST00000293379.4 - 11 1263 c.1002C>T c.(1000-1002)gaC>gaT p.D334D RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 334 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 CCCCATTGACGTCTGTGGCGG 0.547000 43 35 0 0 1 0 0 LILRA4 23547 broad.mit.edu 37 19 54848852 54848852 + Missense_Mutation SNP C C A TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr19:54848852C>A ENST00000291759.4 - 5 827 c.771G>T c.(769-771)aaG>aaT p.K257N NM_012276.3 NP_036408.3 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 257 Ig-like C2-type 3. integral to membrane receptor activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) CGGCCCCCTCCTTGTACAGAG 0.672000 10 68 7.48243e-07 7.77021e-07 1 1 0 LCP1 3936 broad.mit.edu 37 13 46733004 46733004 + Missense_Mutation SNP T T A TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr13:46733004T>A ENST00000398576.2 - 6 573 c.185A>T c.(184-186)gAt>gTt p.D62V LCP1_ENST00000323076.2_Missense_Mutation_p.D62V P13796 PLSL_HUMAN lymphocyte cytosolic protein 1 (L-plastin) 62 EF-hand 2. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1) 34 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) TTGGTCCAGATCACCTGTAGC 0.418000 T BCL6 NHL 70 57 0 0 1 0 0 TRPM4 54795 broad.mit.edu 37 19 49713575 49713575 + Missense_Mutation SNP G G A TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr19:49713575G>A ENST00000252826.5 + 21 3367 c.3241G>A c.(3241-3243)Gtc>Atc p.V1081I TRPM4_ENST00000427978.2_Missense_Mutation_p.V936I|TRPM4_ENST00000355712.5_Missense_Mutation_p.V727I NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 1081 Calmodulin-binding. dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) GCCCTTTATCGTCATCTCCCA 0.642000 13 130 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240371964 240371964 + Missense_Mutation SNP G G C TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr1:240371964G>C ENST00000319653.9 + 5 4082 c.3852G>C c.(3850-3852)aaG>aaC p.K1284N NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1284 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GGAGTAGGAAGCAGCCCATAG 0.468000 9 60 0 0 1 0 0 OR10A7 121364 broad.mit.edu 37 12 55615303 55615303 + Silent SNP C C T TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr12:55615303C>T ENST00000326258.1 + 1 495 c.495C>T c.(493-495)gcC>gcT p.A165A NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 GGATGATGGCCCTTCCTTTCT 0.473000 9 44 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136597335 136597335 + Nonsense_Mutation SNP G G C TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr6:136597335G>C ENST00000531224.1 - 5 1580 c.1328C>G c.(1327-1329)tCa>tGa p.S443* BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.S441*|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.S441*|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.S441*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.S443*|BCLAF1_ENST00000530767.1_Intron NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 443 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GCCTTTCAGTGAAACTTTGGA 0.398000 32 135 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10713827 10713827 + Missense_Mutation SNP T T A TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr1:10713827T>A ENST00000377022.3 - 11 2604 c.2287A>T c.(2287-2289)Agt>Tgt p.S763C CASZ1_ENST00000344008.5_Missense_Mutation_p.S763C|RP4-734G22.3_ENST00000606802.1_RNA NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 763 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) TTGGTGGCACTGGGCCCAGCC 0.701000 8 47 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803493 142803493 + RNA SNP T T C rs80149641 by1000genomes TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr1:142803493T>C ENST00000423385.1 - 0 1472 TGTACATTTATTATTGATTTA 0.323000 9 83 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124911256 124911256 + Missense_Mutation SNP C C T TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr12:124911256C>T ENST00000356219.3 - 12 1395 c.1240G>A c.(1240-1242)Ggg>Agg p.G414R NCOR2_ENST00000405201.1_Missense_Mutation_p.G414R|NCOR2_ENST00000429285.2_Missense_Mutation_p.G413R|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000404621.1_Missense_Mutation_p.G413R|NCOR2_ENST00000397355.1_Missense_Mutation_p.G414R NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 414 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GCCATAAGCCCGTTCATGTTG 0.572000 24 42 0 0 1 0 0 EIF3I 8668 broad.mit.edu 37 1 32694780 32694780 + Silent SNP C C A TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr1:32694780C>A ENST00000373586.1 + 9 846 c.774C>A c.(772-774)acC>acA p.T258T NM_003757.2 NP_003748.1 Q13347 EIF3I_HUMAN eukaryotic translation initiation factor 3, subunit I 258 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) TAACCACAACCTCCACCAGGA 0.443000 27 45 2.41591e-17 2.66139e-17 1 1 0 BRWD1 54014 broad.mit.edu 37 21 40571181 40571181 + Missense_Mutation SNP C C T TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr21:40571181C>T ENST00000342449.3 - 40 5239 c.5161G>A c.(5161-5163)Gag>Aag p.E1721K BRWD1_ENST00000380800.3_Missense_Mutation_p.E1721K|BRWD1_ENST00000333229.2_Missense_Mutation_p.E1721K NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 1721 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) CTTTCTGACTCTGAGTCTCTG 0.398000 35 48 0 0 1 0 0 SLC4A7 9497 broad.mit.edu 37 3 27475588 27475588 + Silent SNP T T A TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr3:27475588T>A ENST00000295736.5 - 6 640 c.570A>T c.(568-570)gtA>gtT p.V190V SLC4A7_ENST00000440156.1_Silent_p.V199V|SLC4A7_ENST00000455077.1_Silent_p.V195V|SLC4A7_ENST00000435667.2_Silent_p.V199V|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000428386.1_Silent_p.V190V|SLC4A7_ENST00000437179.1_Silent_p.V195V|SLC4A7_ENST00000445684.1_Silent_p.V199V|SLC4A7_ENST00000446700.1_Silent_p.V195V|SLC4A7_ENST00000454389.1_Silent_p.V199V|SLC4A7_ENST00000425128.2_Silent_p.V195V NM_003615.4 NP_003606.3 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 7 190 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 TGTTGTCTAATACCATATCTA 0.323000 4 29 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7573982 7573982 + Nonsense_Mutation SNP C C A TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr17:7573982C>A ENST00000269305.4 - 10 1234 c.1045G>T c.(1045-1047)Gaa>Taa p.E349* TP53_ENST00000445888.2_Nonsense_Mutation_p.E349*|TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 349 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. E -> D (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.E349*(11)|p.0?(8)|p.L348_E349>F*(2)|p.E349fs*21(2)|p.?(1)|p.I332fs*5(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) TCCTTGAGTTCCAAGGCCTCA 0.597000 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) 28 4 4.43304e-23 4.98716e-23 1 1 0 HTR1E 3354 broad.mit.edu 37 6 87725129 87725129 + Missense_Mutation SNP G G T TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr6:87725129G>T ENST00000305344.4 + 2 780 c.77G>T c.(76-78)tGc>tTc p.C26F HTR1E_ENST00000369584.1_Missense_Mutation_p.C26F NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 26 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) ATGCTCATTTGCATGACTCTG 0.498000 49 41 2.43139e-17 2.66139e-17 1 1 0 KIAA1429 25962 broad.mit.edu 37 8 95518910 95518910 + Silent SNP A A T TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr8:95518910A>T ENST00000297591.5 - 16 3990 c.3915T>A c.(3913-3915)ggT>ggA p.G1305G KIAA1429_ENST00000437199.1_Silent_p.G1305G NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 1305 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) CAGAAATAGAACCTTCAGAAG 0.393000 19 132 0 0 1 0 0 HHIP 64399 broad.mit.edu 37 4 145580927 145580927 + Silent SNP T T C TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr4:145580927T>C ENST00000296575.3 + 4 1423 c.768T>C c.(766-768)ccT>ccC p.P256P HHIP_ENST00000434550.2_Silent_p.P256P|HHIP_ENST00000511314.1_3'UTR|HHIP-AS1_ENST00000512359.1_RNA NM_022475.2 NP_071920.1 Q96QV1 HHIP_HUMAN hedgehog interacting protein 256 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) TACTTACCCCTGAAGGAGAAA 0.428000 58 72 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518497 113518497 + Nonsense_Mutation SNP G G A TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr7:113518497G>A ENST00000284601.3 - 4 2718 c.2650C>T c.(2650-2652)Cag>Tag p.Q884* NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 884 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TCTTGAACCTGCCTAAGATCT 0.368000 9 48 0 0 1 0 0 BCL2L11 10018 broad.mit.edu 37 2 111921771 111921772 + Frame_Shift_Ins INS - - A TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr2:111921771_111921772insA ENST00000393256.3 + 4 833_834 c.560_561insA c.(559-561)tcgfs p.S187fs BCL2L11_ENST00000308659.8_Frame_Shift_Ins_p.S127fs NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3 NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1 O43521 B2L11_HUMAN BCL2-like 11 (apoptosis facilitator) 187 activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane protein binding endometrium(4)|large_intestine(3)|lung(2)|prostate(2) 11 TTACGACTGTTACGTTACATTG 0.436 37 75 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32521843 32521844 + RNA DEL CT CT - rs67101368 TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr6:32521843_32521844delCT ENST00000411500.1 - 0 740 NR_001298.1 AGAAGGCTACCTCCTGTAAGAA 0.356 4 3 --- --- --- --- RRM1 6240 broad.mit.edu 37 11 4123271 4123272 + Frame_Shift_Del DEL AG AG - TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr11:4123271_4123272delAG ENST00000300738.5 + 2 272_273 c.68_69delAG c.(67-69)cfs p.Q23fs RRM1_ENST00000423050.2_5'UTR NM_001033.3 NP_001024.1 P23921 RIR1_HUMAN ribonucleotide reductase M1 23 ATP-cone. deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex ATP binding|ribonucleoside-diphosphate reductase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2) 14 Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205) Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005) TCTCGAATCCAGAAGCTTTGTT 0.327 19 32 --- --- --- --- RPH3A 22895 broad.mit.edu 37 12 113285511 113285515 + Frame_Shift_Del DEL GGCTG GGCTG - TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr12:113285511_113285515delGGCTG ENST00000389385.4 + 5 591_595 c.94_98delGGCTG c.(94-99)gfs p.GW32fs RPH3A_ENST00000447659.2_Intron|RPH3A_ENST00000415485.3_Frame_Shift_Del_p.GW32fs|RPH3A_ENST00000548866.1_Intron|RPH3A_ENST00000551052.1_Frame_Shift_Del_p.GW28fs|RPH3A_ENST00000420983.2_Frame_Shift_Del_p.GW32fs|RPH3A_ENST00000543106.2_Frame_Shift_Del_p.GW32fs NM_001143854.1|NM_014954.3 NP_001137326.1|NP_055769.2 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog (mouse) 32 intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) GCTCCAGGCAGGCTGGTCCGTCCAC 0.537 25 33 --- --- --- --- CAPN15 6650 broad.mit.edu 37 16 601377 601377 + Frame_Shift_Del DEL C C - TCGA-N9-A4Q8-01A-31D-A28R-08 TCGA-N9-A4Q8-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be7078d-fea8-4251-a3ce-61b557ea7d2a 0ff13793-87ed-4219-a372-f1cf13c2489e g.chr16:601377delC ENST00000219611.2 + 8 2505 c.2142delC c.(2140-2142)cgfs p.R714fs LA16c-366D1.3_ENST00000565879.1_RNA NM_005632.2 NP_005623.1 calpain 15 TGGGCCTGCGCCCCCGGCATG 0.682 55 62 --- --- --- ---