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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut UGT2B10 7365 broad.mit.edu 37 4 69681930 69681930 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr4:69681930C>T uc003hee.3 + 0 218 c.193C>T c.(193-195)Ccc>Tcc p.P65S UGT2B10_uc011cam.2_Missense_Mutation_p.P65S NM_001075 NP_001066 P36537 UDB10_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA. 65 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 TCTTTTTGATCCCAACGACTC 0.368000 83 48 0 0 0.000781405 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140798046 140798046 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr5:140798046C>T uc003lkn.2 + 0 787 c.620C>T c.(619-621)gCt>gTt p.A207V PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkm.3_Missense_Mutation_p.A207V|PCDHGC5_uc003lko.1_5'Flank|PCDHGC5_uc003lkq.2_5'Flank|PCDHGC5_uc003lkp.2_5'Flank NM_018927 NP_061750 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 7 (PCDHGB7), transcript variant 1, mRNA. 207 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGCAGAGCGCTCACCACTTG 0.498000 57 12 0 0 0.00136819 0 0 CLIP1 6249 broad.mit.edu 37 12 122773082 122773082 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:122773082C>T uc001ucg.2 - 20 3756 c.3601G>A c.(3601-3603)Gaa>Aaa p.E1201K CLIP1_uc001uch.1_Missense_Mutation_p.E1190K|CLIP1_uc001uci.1_Missense_Mutation_p.E1155K|CLIP1_uc001ucj.1_Missense_Mutation_p.E776K NM_001247997 NP_001234926 P30622 CLIP1_HUMAN Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA. 1201 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) GATCTTTCTTCTTCCAGCTAG 0.378000 13 7 0 0 0.000157383 0 0 GBP4 115361 broad.mit.edu 37 1 89662941 89662941 + Silent SNP C A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:89662941C>A uc001dnb.3 - 1 203 c.87G>T c.(85-87)gtG>gtT p.V29V NM_052941 NP_443173 Q96PP9 GBP4_HUMAN Homo sapiens guanylate binding protein 4 (GBP4), mRNA. 29 cytoplasm GTP binding|GTPase activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1) 33 all cancers(265;0.00723)|Epithelial(280;0.0291) CCTGGTTTTCCACTAGACAAA 0.438000 46 17 7.07596e-05 0.000284094 0.00074312 1 0 SALL3 27164 broad.mit.edu 37 18 76754751 76754751 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr18:76754751G>A uc002lmt.3 + 1 2760 c.2760G>A c.(2758-2760)ccG>ccA p.P920P SALL3_uc010dra.3_Silent_p.P527P NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA. 920 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CCAAGTCCCCGGGCCTGGGCG 0.766000 9 9 0 0 0.000673444 0 0 CHRM2 1129 broad.mit.edu 37 7 136700068 136700068 + Silent SNP C T T rs148163637 by1000genomes TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:136700068C>T uc003vtf.1 + 3 1079 c.456C>T c.(454-456)ttC>ttT p.F152F CHRM2_uc003vtg.1_Silent_p.F152F|CHRM2_uc003vti.1_Silent_p.F152F|CHRM2_uc003vtm.1_Silent_p.F152F|CHRM2_uc003vtj.1_Silent_p.F152F|CHRM2_uc003vtk.1_Silent_p.F152F|CHRM2_uc003vtl.1_Silent_p.F152F|CHRM2_uc003vtn.1_Silent_p.F152F|CHRM2_uc003vto.1_Silent_p.F152F|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Silent_p.F152F NM_001006630 NP_001006633 P08172 ACM2_HUMAN Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA. 152 G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) TCCTCTCTTTCATCCTCTGGG 0.498000 91 50 0 0 0.000781405 0 0 CAGE1 285782 broad.mit.edu 37 6 7365709 7365709 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr6:7365709C>T uc003mxl.2 - 8 2716 c.2185G>A c.(2185-2187)Gat>Aat p.D729N CAGE1_uc003mxh.3_Non-coding_Transcript|CAGE1_uc021ylc.1_Missense_Mutation_p.D566N|CAGE1_uc003mxj.3_Missense_Mutation_p.D484N|CAGE1_uc003mxk.2_Missense_Mutation_p.D729N NM_001170692 NP_001164163 Q8TC20 CAGE1_HUMAN Homo sapiens cancer antigen 1 (CAGE1), transcript variant 1, mRNA. 702 breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1) 19 Ovarian(93;0.0418) ACCAAGAAATCAAGCTCCTCA 0.358000 39 16 0 0 0.000308642 0 0 METTL4 64863 broad.mit.edu 37 18 2554989 2554989 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr18:2554989G>A uc002klh.4 - 3 1288 c.508C>T c.(508-510)Ctc>Ttc p.L170F METTL4_uc010dkj.3_5'UTR NM_022840 NP_073751 Q8N3J2 METL4_HUMAN Homo sapiens methyltransferase like 4 (METTL4), mRNA. 170 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process methyltransferase activity|nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 17 CCACTTTTGAGACCTTCCTGG 0.363000 160 95 0 0 0.000781405 0 0 HDAC1 3065 broad.mit.edu 37 1 32796199 32796199 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:32796199G>A uc001bvb.1 + 7 813 c.750G>A c.(748-750)gaG>gaA p.E250E HDAC1_uc010ohf.1_Silent_p.E221E|HDAC1_uc001bvc.1_Silent_p.E6E NM_004964 NP_004955 Q13547 HDAC1_HUMAN Homo sapiens histone deacetylase 1 (HDAC1), mRNA. 250 Histone deacetylase. anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter NuRD complex|Sin3 complex|cytosol NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 18 Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113) KIRC - Kidney renal clear cell carcinoma(1967;0.138) Vorinostat(DB02546) AAGTAATGGAGATGTTCCAGC 0.478000 114 33 0 0 0.00111076 0 0 ABCA13 154664 broad.mit.edu 37 7 48335455 48335456 + Missense_Mutation DNP GT TG TG TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:48335455_48335456GT>TG uc003toq.2 + 20 9138_9139 c.9114_9115GT>TG c.(9112-9117)ttgtac>ttTGac p.3038_3039LY>FD ABCA13_uc010kys.1_Missense_Mutation_p.112_113LY>FD NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 3038 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 AGCAGCACTTGTACATGTATGC 0.485000 202 85 0 0 6.4e-05 0 0 OR13F1 138805 broad.mit.edu 37 9 107267446 107267446 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr9:107267446G>A uc011lvm.2 + 0 903 c.903G>A c.(901-903)ttG>ttA p.L301L NM_001004485 NP_001004485 Q8NGS4 O13F1_HUMAN Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA. 301 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A300S(2) endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 AAGTGGCCTTGAAAAAATTGC 0.363000 39 55 0 0 0.000781405 0 0 DPY19L4 286148 broad.mit.edu 37 8 95778849 95778850 + Missense_Mutation DNP CC AA AA TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:95778849_95778850CC>AA uc003ygx.2 + 10 1235_1236 c.1111_1112CC>AA c.(1111-1113)cca>AAa p.P371K NM_181787 NP_861452 Q7Z388 D19L4_HUMAN Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA. 371 integral to membrane breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 21 Breast(36;3.85e-06) GATGTTTGTCCCACACAAAGAA 0.322000 658 14 0 0 6.4e-05 0 0 MYF5 4617 broad.mit.edu 37 12 81111198 81111198 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:81111198C>T uc001szg.2 + 0 491 c.356C>T c.(355-357)cCc>cTc p.P119L NM_005593 NP_005584 P13349 MYF5_HUMAN Homo sapiens myogenic factor 5 (MYF5), mRNA. 119 Helix-loop-helix motif. muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 CAGAGGCTGCCCAAGGTGGAG 0.587000 37 14 0 0 0.00244969 0 0 TTC12 54970 broad.mit.edu 37 11 113220815 113220815 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr11:113220815C>T uc001pnv.3 + 13 1298 c.1193C>T c.(1192-1194)tCa>tTa p.S398L TTC12_uc001pnu.3_Missense_Mutation_p.S392L|TTC12_uc001pnw.3_Non-coding_Transcript|TTC12_uc001pnx.3_Missense_Mutation_p.S242L NM_017868 NP_060338 Q9H892 TTC12_HUMAN Homo sapiens tetratricopeptide repeat domain 12 (TTC12), mRNA. 392 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) GCGCTGGTGTCATTTCTTGAT 0.413000 57 21 0 0 0.00229938 0 0 CDC42EP2 10435 broad.mit.edu 37 11 65088607 65088607 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr11:65088607G>A uc021qli.1 + 0 238 c.238G>A c.(238-240)Gac>Aac p.D80N CDC42EP2_uc001odl.3_Missense_Mutation_p.D80N NM_006779 NP_006770 O14613 BORG1_HUMAN Homo sapiens CDC42 effector protein (Rho GTPase binding) 2 (CDC42EP2), mRNA. 80 actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape cytoplasm|cytoskeleton|endomembrane system|plasma membrane GTP-Rho binding|Rho GTPase activator activity lung(1) 1 TGGCACCTTCGACCTCCCCTT 0.647000 12 22 0 0 0.00152264 0 0 GDF3 9573 broad.mit.edu 37 12 7848116 7848116 + Missense_Mutation SNP A G G TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:7848116A>G uc001qte.3 - 0 245 c.209T>C c.(208-210)tTa>tCa p.L70S NM_020634 NP_065685 Q9NR23 GDF3_HUMAN Homo sapiens growth differentiation factor 3 (GDF3), mRNA. 70 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 TACGTAGCATAAGTCTCGGGA 0.507000 40 12 0 0 0.00185496 0 0 HMBS 3145 broad.mit.edu 37 11 118960443 118960443 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr11:118960443C>T uc001puz.1 + 5 474 c.317C>T c.(316-318)cCt>cTt p.P106L HMBS_uc009zao.2_Missense_Mutation_p.P51L|HMBS_uc001pva.1_Missense_Mutation_p.P106L|HMBS_uc001pve.1_Missense_Mutation_p.P89L|HMBS_uc001pvf.1_Missense_Mutation_p.P89L NM_000190 NP_001019553 P08397 HEM3_HUMAN Homo sapiens hydroxymethylbilane synthase (HMBS), transcript variant 1, mRNA. 106 peptidyl-pyrromethane cofactor linkage cytosol hydroxymethylbilane synthase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 15 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.72e-05) GTGCTTCCTCCTGGCTTCACC 0.557000 4 12 0 0 0.000566183 0 0 DSG3 1830 broad.mit.edu 37 18 29041278 29041278 + Nonsense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr18:29041278G>A uc002kws.3 + 7 1011 c.902G>A c.(901-903)tGg>tAg p.W301* NM_001944 NP_001935 P32926 DSG3_HUMAN Homo sapiens desmoglein 3 (DSG3), mRNA. 301 Cadherin 3. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding p.N300D(1) breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) ACAGATAATTGGCTTGCAGTA 0.348000 38 30 0 0 0.00106085 0 0 HJURP 55355 broad.mit.edu 37 2 234752853 234752853 + Missense_Mutation SNP G T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:234752853G>T uc002vvg.3 - 6 638 c.572C>A c.(571-573)cCc>cAc p.P191H HJURP_uc010znd.2_Missense_Mutation_p.P130H|HJURP_uc010zne.2_Missense_Mutation_p.P99H NM_018410 NP_060880 Q8NCD3 HJURP_HUMAN Homo sapiens Holliday junction recognition protein (HJURP), mRNA. 191 CenH3-containing nucleosome assembly at centromere|cell cycle|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) ACACTCACCGGGGGCAGGCAC 0.557000 43 30 1.74807e-11 7.09782e-11 0.00209593 1 0 RP1 6101 broad.mit.edu 37 8 55540055 55540055 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:55540055C>T uc003xsd.1 + 3 3761 c.3613C>T c.(3613-3615)Cca>Tca p.P1205S RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 1205 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AGACATGGTTCCAATAGATCT 0.423000 82 71 0 0 0.000781405 0 0 FYB 2533 broad.mit.edu 37 5 39119083 39119083 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr5:39119083G>A uc003jls.3 - 13 2223 c.2156C>T c.(2155-2157)tCt>tTt p.S719F FYB_uc003jlt.3_Missense_Mutation_p.S765F|FYB_uc003jlu.3_Missense_Mutation_p.S719F|FYB_uc011cpl.2_Missense_Mutation_p.S775F NM_199335 NP_955367 O15117 FYB_HUMAN Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA. 719 NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) CCACTTTTTAGAAGTTATGGA 0.313000 33 9 0 0 0.000274275 0 0 A2M 2 broad.mit.edu 37 12 9232411 9232411 + Splice_Site SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:9232411C>T uc001qvk.1 - 24 2968 c.2855_splice c.e24-1 p.G952_splice A2M_uc009zgk.1_Splice_Site_p.G802_splice NM_000014 NP_000005 P01023 A2MG_HUMAN Homo sapiens alpha-2-macroglobulin (A2M), mRNA. 952 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) TAATATGTCTCCTAGAGAATG 0.388000 7 12 0 0 0.000308642 0 0 ARID2 196528 broad.mit.edu 37 12 46230632 46230632 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:46230632G>A uc001ros.1 + 7 881 c.881G>A c.(880-882)aGa>aAa p.R294K ARID2_uc001ror.3_Missense_Mutation_p.R294K|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR NM_152641 NP_689854 Q68CP9 ARID2_HUMAN Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA. 294 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) GTGATTTTGAGAAATCTTTCC 0.403000 """N, S, F""" hepatocellular carcinoma 66 25 0 0 0.000720815 0 0 ABCB5 340273 broad.mit.edu 37 7 20683112 20683112 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:20683112G>A uc010kuh.3 + 6 772 c.535G>A c.(535-537)Gga>Aga p.G179R NM_001163941 NP_848654 Q2M3G0 ABCB5_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA. 365 regulation of membrane potential Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 TGATGGTATTGGAGATAAGAT 0.378000 186 28 0 0 0.0024448 0 0 CEACAM4 1089 broad.mit.edu 37 19 42133272 42133272 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:42133272G>A uc010xwd.1 - 0 171 c.60C>T c.(58-60)atC>atT p.I20I CEACAM4_uc002orh.1_Silent_p.I20I NM_001817 NP_001808 O75871 CEAM4_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 4 (CEACAM4), mRNA. 20 integral to plasma membrane|membrane fraction NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1) 16 CCTCACCTGTGATCAGGAGCC 0.662000 14 8 0 0 0.000274275 0 0 SLC17A7 57030 broad.mit.edu 37 19 49934644 49934645 + Missense_Mutation DNP GG AA AA TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:49934644_49934645GG>AA uc002pnp.3 - 9 1383_1384 c.1211_1212CC>TT c.(1210-1212)gcc>gTT p.A404V SLC17A7_uc002pno.3_Intron NM_020309 NP_064705 Q9P2U7 VGLU1_HUMAN Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA. 404 glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 26 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) GGAAGGAGATGGCCACGCCCTT 0.668000 51 12 0 0 6.4e-05 0 0 VWA5A 4013 broad.mit.edu 37 11 123988472 123988472 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr11:123988472C>T uc001pzu.3 + 3 345 c.136C>T c.(136-138)Cct>Tct p.P46S VWA5A_uc001pzr.3_Missense_Mutation_p.P46S|VWA5A_uc001pzs.3_Missense_Mutation_p.P46S|VWA5A_uc010sae.2_Missense_Mutation_p.P62S|VWA5A_uc001pzt.3_Missense_Mutation_p.P46S NM_001130142 NP_055437 O00534 VMA5A_HUMAN Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA. 46 VIT. autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 GGAGAAAGTTCCTTTGGAGGC 0.458000 12 53 0 0 0.000781405 0 0 GCK 2645 broad.mit.edu 37 7 44191917 44191918 + Nonsense_Mutation DNP GG AA AA TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:44191917_44191918GG>AA uc003tkl.2 - 2 785_786 c.315_316CC>TT c.(313-318)caccag>caTTag p.Q106* GCK_uc003tkj.1_Nonsense_Mutation_p.Q105*|GCK_uc003tkk.1_Nonsense_Mutation_p.Q107* NM_000162 NP_000153 P35557 HXK4_HUMAN Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA. 106 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 37 GAGTACATCTGGTGTTTGGTCT 0.634000 357 175 0 0 6.4e-05 0 0 APBB2 323 broad.mit.edu 37 4 40936716 40936716 + Splice_Site SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr4:40936716C>T uc003gvn.3 - 9 1738 c.1108_splice c.e9-1 p.D370_splice APBB2_uc010ifu.3_Splice_Site|APBB2_uc003gvl.3_Splice_Site_p.D369_splice|APBB2_uc003gvm.3_Splice_Site_p.D348_splice|APBB2_uc011byt.1_Splice_Site_p.D331_splice NM_004307 NP_004298 Q92870 APBB2_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA. 369 cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1) 34 GCATGCAAATCCTAGAGGAAA 0.448000 28 11 0 0 0.000978159 0 0 COBL 23242 broad.mit.edu 37 7 51096349 51096349 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:51096349G>A uc003tps.3 - 10 2800 c.2615C>T c.(2614-2616)tCg>tTg p.S872L COBL_uc003tpr.4_Missense_Mutation_p.S815L|COBL_uc011kcl.2_Missense_Mutation_p.S815L|COBL_uc003tpp.4_Missense_Mutation_p.S601L|COBL_uc003tpq.4_Missense_Mutation_p.S756L|COBL_uc003tpo.4_Missense_Mutation_p.S357L NM_015198 NP_056013 O75128 COBL_HUMAN Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA. 815 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) CTGCTGGGGCGATATTGGCTT 0.657000 49 17 0 0 0.000566183 0 0 MAGEC3 139081 broad.mit.edu 37 X 140969345 140969345 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chrX:140969345G>A uc011mwp.2 + 3 672 c.672G>A c.(670-672)atG>atA p.M224I NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA. 224 MAGE 1. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) ACTTTCCTATGATCTTCAGGA 0.433000 16 84 0 0 0.000781405 0 0 LMF2 91289 broad.mit.edu 37 22 50945081 50945081 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr22:50945081G>A uc003blp.2 - 2 394 c.363C>T c.(361-363)ttC>ttT p.F121F LMF2_uc003blo.2_Silent_p.F96F|NCAPH2_uc003blq.4_5'Flank|NCAPH2_uc003blv.3_5'Flank|NCAPH2_uc003blx.4_5'Flank|NCAPH2_uc003blr.4_5'Flank NM_033200 NP_149977 Q9BU23 LMF2_HUMAN Homo sapiens lipase maturation factor 2 (LMF2), mRNA. 121 endoplasmic reticulum membrane|integral to membrane breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2) 10 all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GGAAATAAAGGAACACCTGGC 0.652000 41 22 0 0 0.00106085 0 0 LILRB3 11025 broad.mit.edu 37 19 54803746 54803746 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:54803746G>A uc002qfd.3 - 2 170 c.78C>T c.(76-78)ctC>ctT p.L26L LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Silent_p.L26L NM_006865 NP_006856 O75022 LIRB3_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA. 26 cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 34 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGGGCTTGGGGAGGGGCCCTG 0.592000 37 27 0 0 0.00209593 0 0 FAM75D1 389763 broad.mit.edu 37 9 84607212 84607212 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr9:84607212C>T uc004amn.3 + 3 1874 c.1827C>T c.(1825-1827)ccC>ccT p.P609P NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA. 609 integral to membrane cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 88 TTCATAGACCCCAGAACGAGG 0.498000 43 50 0 0 0.000781405 0 0 FLG 2312 broad.mit.edu 37 1 152285396 152285396 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:152285396C>T uc001ezu.1 - 2 2002 c.1966G>A c.(1966-1968)Ggc>Agc p.G656S AK056431_uc001ezv.3_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 656 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTCTGGAGCCATCTCTTGAC 0.547000 Ichthyosis 36 299 0 0 0.000781405 0 0 ZNF418 147686 broad.mit.edu 37 19 58437580 58437580 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:58437580G>A uc002qqs.1 - 3 2261 c.1969C>T c.(1969-1971)Cat>Tat p.H657Y ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Missense_Mutation_p.H572Y NM_133460 NP_597717 Q8TF45 ZN418_HUMAN Homo sapiens zinc finger protein 418 (ZNF418), mRNA. 657 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 31 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;0.0158) GAGCTTCGATGAAATGATTTT 0.413000 62 17 0 0 0.00188189 0 0 UGT2A1 10941 broad.mit.edu 37 4 70455305 70455305 + Nonsense_Mutation SNP G A A rs139303872 byFrequency TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr4:70455305G>A uc011caq.2 - 6 1983 c.1867C>T c.(1867-1869)Cga>Tga p.R623* UGT2A1_uc010ihu.3_Nonsense_Mutation_p.R457*|UGT2A1_uc003hem.4_Nonsense_Mutation_p.R457*|UGT2A1_uc010ihs.3_Nonsense_Mutation_p.R466*|UGT2A1_uc021xox.1_Nonsense_Mutation_p.R422*|UGT2A1_uc010iht.3_Nonsense_Mutation_p.R413* NM_001252274 NP_001239203 Q9Y4X1 UD2A1_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA. 457 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity p.R457*(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 AAGACTGCTCGATCCAGGGGC 0.448000 74 61 0 0 0.000781405 0 0 ACTN2 88 broad.mit.edu 37 1 236920792 236920792 + Missense_Mutation SNP C T T rs149433837 byFrequency TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:236920792C>T uc001hyf.2 + 17 2365 c.2161C>T c.(2161-2163)Cgt>Tgt p.R721C ACTN2_uc001hyg.2_Missense_Mutation_p.R513C|ACTN2_uc009xgi.1_Missense_Mutation_p.R721C|ACTN2_uc010pxu.1_Missense_Mutation_p.R410C NM_001103 NP_001094 P35609 ACTN2_HUMAN Homo sapiens actinin, alpha 2 (ACTN2), mRNA. 721 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) ATAGCACATTCGTGTTGGATG 0.502000 14 64 0 0 0.000781405 0 0 LRGUK 136332 broad.mit.edu 37 7 133943125 133943126 + Missense_Mutation DNP CC TT TT TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:133943125_133943126CC>TT uc003vrm.1 + 18 2331_2332 c.2315_2316CC>TT c.(2314-2316)gcc>gTT p.A772V NM_144648 NP_653249 Q96M69 LRGUK_HUMAN Homo sapiens leucine-rich repeats and guanylate kinase domain containing (LRGUK), mRNA. 772 ATP binding|kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 GGATCAGGAGCCAGTGACAGTG 0.535000 38 49 0 0 6.4e-05 0 0 AKAP11 11215 broad.mit.edu 37 13 42877958 42877958 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr13:42877958C>T uc001uys.2 + 7 5251 c.5076C>T c.(5074-5076)acC>acT p.T1692T NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA. 1692 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) CCACAGAAACCATGACAGCAG 0.463000 60 16 0 0 0.00074312 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140769536 140769536 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr5:140769536C>T uc003lkc.2 + 0 2085 c.2085C>T c.(2083-2085)gcC>gcT p.A695A PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR NM_003736 NP_003727 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA. 699 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.I695N(1) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGCCTTGGCCTTGATCTCAG 0.632000 131 29 0 0 0.00106085 0 0 LRRC24 441381 broad.mit.edu 37 8 145748575 145748576 + Missense_Mutation DNP CC TT TT TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:145748575_145748576CC>TT uc003zdm.3 - 4 957_958 c.825_826GG>AA c.(823-828)gaggac>gaAAac p.D276N LRRC14_uc003zdk.2_3'UTR|LRRC14_uc003zdl.2_3'UTR NM_001024678 NP_001019849 Q50LG9 LRC24_HUMAN Homo sapiens leucine rich repeat containing 24 (LRRC24), mRNA. 276 Ig-like C2-type. integral to membrane breast(2)|endometrium(1)|kidney(1)|lung(1) 5 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) ACCCGCAGGTCCTCACCCAGGT 0.678000 30 6 0 0 6.4e-05 0 0 SCP2 6342 broad.mit.edu 37 1 53443971 53443971 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:53443971G>A uc001cur.2 + 8 925 c.757G>A c.(757-759)Gaa>Aaa p.E253K SCP2_uc010ono.2_Missense_Mutation_p.E172K|SCP2_uc010onp.2_Missense_Mutation_p.E229K|SCP2_uc009vzi.2_Missense_Mutation_p.E209K|SCP2_uc001cus.2_5'UTR|SCP2_uc001cuq.2_Missense_Mutation_p.E209K NM_002979 NP_001180546 P22307 NLTP_HUMAN Homo sapiens sterol carrier protein 2 (SCP2), transcript variant 1, mRNA. 253 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport mitochondrion|nucleus|peroxisomal matrix propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 15 CAAAGCTGTGGAAATTTTGGC 0.368000 46 18 0 0 0.00121646 0 0 IQUB 154865 broad.mit.edu 37 7 123150081 123150081 + Missense_Mutation SNP C A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:123150081C>A uc003vkn.3 - 2 983 c.406G>T c.(406-408)Gta>Tta p.V136L IQUB_uc003vko.3_Missense_Mutation_p.V136L|IQUB_uc010lkt.3_Non-coding_Transcript|IQUB_uc003vkp.1_Missense_Mutation_p.V136L|IQUB_uc003vkq.2_Missense_Mutation_p.V136L NM_178827 NP_849149 Q8NA54 IQUB_HUMAN Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA. 136 Ubiquitin-like. p.V135F(1) breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 GGAATAAGTACAACTTTTACT 0.308000 196 82 2.43516e-34 9.96287e-34 0.000781405 1 0 ZNF211 10520 broad.mit.edu 37 19 58153489 58153489 + Silent SNP C T T rs138875681 TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:58153489C>T uc002qpr.2 + 5 2130 c.1827C>T c.(1825-1827)tcC>tcT p.S609S ZNF211_uc010yhb.1_Silent_p.S549S|ZNF211_uc002qpp.2_Silent_p.S558S|ZNF211_uc002qpq.2_Silent_p.S545S|ZNF211_uc002qpt.2_Silent_p.S557S|ZNF211_uc010yhc.1_Silent_p.S557S|ZNF211_uc010yhe.1_Silent_p.S536S|ZNF211_uc010yhd.1_Silent_p.S484S NM_006385 NP_006376 Q13398 ZN211_HUMAN Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA. 545 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GTGGGAAATCCTTTGGCTGCA 0.418000 73 29 0 0 0.00283554 0 0 CASP3 836 broad.mit.edu 37 4 185552973 185552973 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr4:185552973G>A uc003iwh.3 - 5 692 c.429C>T c.(427-429)ttC>ttT p.F143F CASP3_uc003iwg.3_Silent_p.F143F|CASP3_uc003iwi.3_Silent_p.F143F NM_004346 NP_116786 P42574 CASP3_HUMAN Homo sapiens caspase 3, apoptosis-related cysteine peptidase (CASP3), transcript variant alpha, mRNA. 143 DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity by cytochrome c|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor cytosol|mitochondrion|nucleoplasm|plasma membrane cysteine-type endopeptidase activity|protein binding p.F143S(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 12 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592) all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161) Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641) GATCCCCTCTGAAAAAGTTTG 0.373000 56 62 0 0 0.000781405 0 0 ABCC2 1244 broad.mit.edu 37 10 101578963 101578963 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr10:101578963G>A uc001kqf.2 + 18 2696 c.2557G>A c.(2557-2559)Gga>Aga p.G853R NM_000392 NP_000383 Q92887 MRP2_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA. 853 ABC transporter 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) GGCCAAAAAAGGAGAGTTTGC 0.438000 12 51 0 0 0.000781405 0 0 GLI3 2737 broad.mit.edu 37 7 42005858 42005859 + Missense_Mutation DNP CC TT TT TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:42005858_42005859CC>TT uc011kbh.2 - 14 2903_2904 c.2812_2813GG>AA c.(2812-2814)gga>AAa p.G938K GLI3_uc011kbg.2_Missense_Mutation_p.G879K NM_000168 NP_000159 P10071 GLI3_HUMAN Homo sapiens GLI family zinc finger 3 (GLI3), mRNA. 938 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.T937T(1) NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 CGGCGGCCCTCCTGTGGCAGCC 0.723000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 30 20 0 0 6.4e-05 0 0 COL5A1 1289 broad.mit.edu 37 9 137707809 137707809 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr9:137707809G>A uc004cfe.3 + 51 4479 c.4097G>A c.(4096-4098)gGa>gAa p.G1366E NM_000093 NP_000084 P20908 CO5A1_HUMAN Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA. 1366 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GGTGACAAAGGAGATGATGGT 0.567000 22 19 0 0 0.00152264 0 0 IQSEC2 23096 broad.mit.edu 37 X 53277939 53277939 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chrX:53277939C>T uc004dsd.3 - 5 2624 c.2423G>A c.(2422-2424)gGg>gAg p.G808E IQSEC2_uc004dsc.3_Missense_Mutation_p.G603E NM_001111125 NP_001104595 Q5JU85 IQEC2_HUMAN Homo sapiens IQ motif and Sec7 domain 2 (IQSEC2), transcript variant 1, mRNA. 798 SEC7. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity p.Q808H(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1) 29 CTGCCGGTTCCCTAGGAATTC 0.602000 3 25 0 0 0.00127121 0 0 RNF103 7844 broad.mit.edu 37 2 86832146 86832146 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:86832146G>A uc002srn.3 - 3 1869 c.878C>T c.(877-879)cCt>cTt p.P293L RNF103_uc010ytl.2_Intron|RNF103_uc002srm.3_Missense_Mutation_p.P154L|RNF103_uc021vkg.1_Missense_Mutation_p.P289L|BC066991_uc002sro.3_Intron NM_005667 NP_005658 O00237 RN103_HUMAN Homo sapiens ring finger protein 103 (RNF103), transcript variant 1, mRNA. 293 ER-associated protein catabolic process|central nervous system development endoplasmic reticulum membrane|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2) 25 AATTCCTTCAGGAGTTCTAAG 0.358000 45 5 0 0 0.00116845 0 0 MXRA5 25878 broad.mit.edu 37 X 3243014 3243014 + Missense_Mutation SNP T A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chrX:3243014T>A uc004crg.4 - 4 869 c.712A>T c.(712-714)Att>Ttt p.I238F NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 238 LRRCT. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CACTTCAGAATTCCTAAAACA 0.398000 1 13 0 0 0.00244969 0 0 OR8B3 390271 broad.mit.edu 37 11 124266884 124266884 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr11:124266884G>A uc010saj.2 - 0 364 c.364C>T c.(364-366)Cgc>Tgc p.R122C OR8B2_uc001qab.3_Intron NM_001005467 NP_001005467 Q8NGG8 OR8B3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily B, member 3 (OR8B3), mRNA. 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R122H(1) kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) GCCACATAGCGATCATATGCC 0.408000 2 10 0 0 0.000442599 0 0 LOC650368 650368 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr11:3427765G>C uc010qxs.1 + 8 c.758G>C LOC650368_uc001lxy.2_Non-coding_Transcript Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA. CACACGTCCTGCAGTGGCCTG 0.602000 26 4 0 0 0.00024832 0 0 MFSD2B 388931 broad.mit.edu 37 2 24239119 24239119 + Nonsense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:24239119C>T uc002reo.2 + 2 330 c.316C>T c.(316-318)Cag>Tag p.Q106* MFSD2B_uc010exz.2_Non-coding_Transcript NM_001080473 NP_001073942 A6NFX1 MFS2B_HUMAN Homo sapiens major facilitator superfamily domain containing 2B (MFSD2B), mRNA. 106 transport integral to membrane cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 10 CAACAGGAGCCAGAGGACAGG 0.592000 16 11 0 0 0.00185496 0 0 TCIRG1 10312 broad.mit.edu 37 11 67816651 67816651 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr11:67816651C>T uc001one.3 + 14 1906 c.1777C>T c.(1777-1779)Ctg>Ttg p.L593L TCIRG1_uc001ong.3_Silent_p.L377L|TCIRG1_uc009ysd.3_5'Flank NM_006019 NP_006044 Q13488 VPP3_HUMAN Homo sapiens T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 (TCIRG1), transcript variant 1, mRNA. 593 ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1) 16 CTACAAGTGGCTGTGTGTCTG 0.607000 10 66 0 0 0.000781405 0 0 ACACB 32 broad.mit.edu 37 12 109660625 109660625 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:109660625C>T uc001tob.3 + 25 3819 c.3700C>T c.(3700-3702)Ccc>Tcc p.P1234S ACACB_uc001toc.3_Missense_Mutation_p.P1234S NM_001093 NP_001084 O00763 ACACB_HUMAN Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA. 1234 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation Golgi apparatus|cytosol|endomembrane system|membrane ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) CTCCCACCTCCCCTCCTACGA 0.647000 21 9 0 0 0.00244969 0 0 PDZD2 23037 broad.mit.edu 37 5 32088933 32088933 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr5:32088933C>T uc003jhl.3 + 19 5767 c.5379C>T c.(5377-5379)atC>atT p.I1793I PDZD2_uc003jhm.3_Silent_p.I1793I NM_178140 NP_835260 O15018 PDZD2_HUMAN Homo sapiens PDZ domain containing 2 (PDZD2), mRNA. 1793 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus p.I1793I(2) NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CAAAAATGATCGCTAGGAGGC 0.428000 25 47 0 0 0.000680045 0 0 STON2 85439 broad.mit.edu 37 14 81743686 81743687 + Missense_Mutation DNP GG AA AA rs143151987 TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr14:81743686_81743687GG>AA uc010tvu.2 - 3 2166_2167 c.1968_1969CC>TT c.(1966-1971)ttccac>ttTTac p.H657Y STON2_uc001xvk.1_Missense_Mutation_p.H657Y|STON2_uc010tvt.2_Missense_Mutation_p.H454Y NM_033104 NP_149095 Q8WXE9 STON2_HUMAN Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA. 657 MHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) CGTGAGTTGTGGAAAACATCCT 0.495000 22 6 0 0 6.4e-05 0 0 PLVAP 83483 broad.mit.edu 37 19 17476173 17476173 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:17476173C>T uc002ngk.1 - 2 1141 c.1101G>A c.(1099-1101)gaG>gaA p.E367E NM_031310 NP_112600 Q9BX97 PLVAP_HUMAN Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA. 367 caveola|integral to membrane|perinuclear region of cytoplasm p.E367Q(1) cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CCCTCTTCTTCTCTTCCAGCT 0.617000 65 23 0 0 0.000720815 0 0 JMJD7-PLA2G4B 8681 broad.mit.edu 37 15 42138519 42138519 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr15:42138519C>T uc001zoo.4 + 21 2452 c.2412C>T c.(2410-2412)ttC>ttT p.F804F JMJD7-PLA2G4B_uc010bcn.3_Silent_p.F804F|JMJD7-PLA2G4B_uc001zoq.4_Silent_p.F274F|JMJD7-PLA2G4B_uc010bco.3_Silent_p.F573F|JMJD7-PLA2G4B_uc001zor.1_3'UTR NM_005090 NP_005081 P0C869 PA24B_HUMAN Homo sapiens JMJD7-PLA2G4B readthrough (JMJD7-PLA2G4B), transcript variant 1, mRNA. 573 arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2) 25 CACATAATTTCCTGCGTGGCC 0.517000 50 69 0 0 0.000781405 0 0 ATP2A3 489 broad.mit.edu 37 17 3844304 3844304 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr17:3844304G>A uc002fwy.2 - 13 2234 c.2061C>T c.(2059-2061)atC>atT p.I687I ATP2A3_uc002fwz.2_Silent_p.I687I|ATP2A3_uc002fxa.2_Silent_p.I687I|ATP2A3_uc002fxb.2_Silent_p.I687I|ATP2A3_uc002fxc.2_Silent_p.I687I|ATP2A3_uc002fxd.2_Silent_p.I687I|ATP2A3_uc002fwx.2_Silent_p.I687I NM_174953 NP_777613 Q93084 AT2A3_HUMAN Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA. 687 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding p.R686C(1) breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) GGTTCTCCACGATGCGGGACT 0.667000 66 12 0 0 0.00244969 0 0 FSHR 2492 broad.mit.edu 37 2 49295379 49295379 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:49295379C>T uc002rww.3 - 1 313 c.203G>A c.(202-204)gGa>gAa p.G68E FSHR_uc010fbn.3_Missense_Mutation_p.G68E|FSHR_uc002rwx.3_Missense_Mutation_p.G68E|FSHR_uc010fbo.2_Non-coding_Transcript NM_000145 NP_000136 P23945 FSHR_HUMAN Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA. 68 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding p.S67L(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) GTCCCCAAATCCTGAAAATGC 0.428000 Gonadal Dysgenesis, 46 XX 73 17 0 0 0.00278032 0 0 CACNA1S 779 broad.mit.edu 37 1 201046244 201046244 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:201046244G>A uc001gvv.3 - 11 1858 c.1631C>T c.(1630-1632)tCg>tTg p.S544L NM_000069 NP_000060 Q13698 CAC1S_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA. 544 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GTTGCTCAGCGACGTCCAATA 0.607000 4 61 0 0 0.000781405 0 0 CPXM2 119587 broad.mit.edu 37 10 125601889 125601889 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr10:125601889G>A uc001lhk.1 - 3 954 c.629C>T c.(628-630)aCt>aTt p.T210I CPXM2_uc001lhj.3_Non-coding_Transcript NM_198148 NP_937791 Q8N436 CPXM2_HUMAN Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA. 210 F5/8 type C. cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CCTCCCTTGAGTGATGACACC 0.522000 9 43 0 0 0.000781405 0 0 FAM83E 54854 broad.mit.edu 37 19 49116419 49116419 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:49116419C>T uc002pjn.2 - 0 276 c.211G>A c.(211-213)Gct>Act p.A71T NM_017708 NP_060178 Q2M2I3 FA83E_HUMAN Homo sapiens family with sequence similarity 83, member E (FAM83E), mRNA. 71 NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2) 10 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) CAGTCTTCAGCTGCCGCTGCC 0.667000 24 21 0 0 0.000720815 0 0 DMXL2 23312 broad.mit.edu 37 15 51792261 51792261 + Missense_Mutation SNP T G G TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr15:51792261T>G uc010ufy.2 - 17 3385 c.3160A>C c.(3160-3162)Atg>Ctg p.M1054L DMXL2_uc002abf.3_Missense_Mutation_p.M1054L|DMXL2_uc010bfa.3_Intron NM_001174116 NP_001167587 Q8TDJ6 DMXL2_HUMAN Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA. 1054 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) TCATCATTCATCAAAGGCCAT 0.403000 32 10 0 0 0.000442599 0 0 ARID5B 84159 broad.mit.edu 37 10 63851157 63851157 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr10:63851157C>T uc001jlt.2 + 9 2391 c.1935C>T c.(1933-1935)acC>acT p.T645T ARID5B_uc001jlu.2_Silent_p.T402T NM_032199 NP_115575 Q14865 ARI5B_HUMAN Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA. 645 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) TCAAGCAGACCCCAAAGGTCC 0.532000 4 12 0 0 0.000978159 0 0 SP100 6672 broad.mit.edu 37 2 231406069 231406069 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:231406069C>T uc002vqu.1 + 26 2526 c.2385C>T c.(2383-2385)ttC>ttT p.F795F SP100_uc010fxp.1_Silent_p.F113F NM_001080391 NP_001073860 P23497 SP100_HUMAN Homo sapiens SP100 nuclear antigen (SP100), transcript variant 1, mRNA. 0 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon PML body|cytoplasm|nuclear periphery|nucleolus DNA binding|chromo shadow domain binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) GCTGCTTTTTCGCCTCAGAAC 0.388000 21 28 0 0 0.0024448 0 0 ATP1A3 478 broad.mit.edu 37 19 42471363 42471364 + Missense_Mutation DNP CC TT TT TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:42471363_42471364CC>TT uc002osh.3 - 21 3204_3205 c.3050_3051GG>AA c.(3049-3051)ggg>gAA p.G1017E ATP1A3_uc010xwf.2_Intron|ATP1A3_uc010xwg.2_Intron|ATP1A3_uc002osg.3_Intron|ATP1A3_uc010xwh.2_Intron P13637 AT1A3_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA. 0 ATP biosynthetic process Golgi apparatus|endoplasmic reticulum ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 ACCCTGCTGCCCCCCGCCCCCC 0.644000 18 6 0 0 6.4e-05 0 0 ROBO1 6091 broad.mit.edu 37 3 78667155 78667155 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr3:78667155C>T uc003dqe.2 - 26 4120 c.3912G>A c.(3910-3912)ccG>ccA p.P1304P ROBO1_uc003dqc.2_Silent_p.P1204P|ROBO1_uc003dqd.2_Silent_p.P1259P|ROBO1_uc003dqb.2_Silent_p.P1265P|ROBO1_uc010hoh.2_Silent_p.P496P|ROBO1_uc011bgl.1_Silent_p.P876P NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA. 1304 Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis cell surface|cytoplasm|integral to plasma membrane LRR domain binding|axon guidance receptor activity|identical protein binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) GAGGGGAGATCGGCCGTGGTG 0.493000 10 50 0 0 0.000781405 0 0 SALL3 27164 broad.mit.edu 37 18 76754784 76754784 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr18:76754784C>T uc002lmt.3 + 1 2793 c.2793C>T c.(2791-2793)atC>atT p.I931I SALL3_uc010dra.3_Silent_p.I538I NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA. 931 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CCCAGGAAATCCCGCTCAAGA 0.746000 10 3 0 0 6.4e-05 0 0 MTMR8 55613 broad.mit.edu 37 X 63551549 63551549 + Missense_Mutation SNP G A A rs139002441 byFrequency TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chrX:63551549G>A uc004dvs.3 - 10 1330 c.1240C>T c.(1240-1242)Ccc>Tcc p.P414S MTMR8_uc011mou.2_Intron NM_017677 NP_060147 Q96EF0 MTMR8_HUMAN Homo sapiens myotubularin related protein 8 (MTMR8), mRNA. 414 Myotubularin phosphatase. nuclear envelope protein tyrosine phosphatase activity p.0?(1) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3) 37 AAGGCACAGGGAAACTGTTCC 0.463000 7 23 0 0 0.00278032 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:16918653C>T uc009vos.1 - 6 853 c.-35_splice c.e6+1 NBPF1_uc010oce.1_Intron NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 48 5 0 0 0.00116845 0 0 PNPLA6 10908 broad.mit.edu 37 19 7607900 7607900 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:7607900C>T uc010xjq.2 + 14 1805 c.1565C>T c.(1564-1566)tCc>tTc p.S522F PNPLA6_uc002mgq.2_Missense_Mutation_p.S474F|PNPLA6_uc010xjp.2_Intron|PNPLA6_uc002mgr.2_Missense_Mutation_p.S474F|PNPLA6_uc002mgs.3_Missense_Mutation_p.S513F NM_001166111 NP_001159583 Q8IY17 PLPL6_HUMAN Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA. 513 cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 CAGGACCCCTCCCTCCTGAAC 0.657000 16 20 0 0 0.00121646 0 0 C11orf63 79864 broad.mit.edu 37 11 122775096 122775096 + Missense_Mutation SNP A T T rs145494873 TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr11:122775096A>T uc001pym.3 + 2 1105 c.808A>T c.(808-810)Acg>Tcg p.T270S C11orf63_uc001pyl.1_Missense_Mutation_p.T270S NM_024806 NP_079082 Q6NUN7 CK063_HUMAN Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA. 270 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 47 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) CACCCCGAAAACGGACTCTTA 0.433000 43 144 0 0 0.000781405 0 0 MUC16 94025 broad.mit.edu 37 19 8993038 8993038 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:8993038G>A uc002mkp.3 - 66 41925 c.41721C>T c.(41719-41721)ttC>ttT p.F13907F MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.F724F|MUC16_uc021uog.1_Non-coding_Transcript NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 13910 SEA 12. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCCGATGGGTGAAACCTGCAC 0.527000 51 12 0 0 0.000422831 0 0 MAP3K9 4293 broad.mit.edu 37 14 71204984 71204985 + Missense_Mutation DNP CC TT TT TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr14:71204984_71204985CC>TT uc001xmm.3 - 7 1821_1822 c.1821_1822GG>AA c.(1819-1824)aaggag>aaAAag p.E608K MAP3K9_uc010ttk.2_Missense_Mutation_p.E345K|MAP3K9_uc001xmk.3_Missense_Mutation_p.E350K|MAP3K9_uc001xml.3_Missense_Mutation_p.E608K NM_033141 NP_149132 P80192 M3K9_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA. 608 activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GAGGCAAGCTCCTTCTGACCAA 0.510000 39 22 0 0 6.4e-05 0 0 DNAH10 196385 broad.mit.edu 37 12 124285934 124285934 + Nonsense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:124285934C>T uc001uft.4 + 14 2240 c.2215C>T c.(2215-2217)Cga>Tga p.R739* DNAH10_uc010tav.1_Nonsense_Mutation_p.R281*|DNAH10_uc010taw.1_Nonsense_Mutation_p.R224* NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 739 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GGAACTGCTCCGAGTGTTTAG 0.433000 58 23 0 0 0.00229938 0 0 PNPLA1 285848 broad.mit.edu 37 6 36262129 36262129 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr6:36262129G>A uc010jwf.2 + 3 667 c.667G>A c.(667-669)Gag>Aag p.E223K PNPLA1_uc010jwe.1_Missense_Mutation_p.E137K|PNPLA1_uc003olw.1_Missense_Mutation_p.E128K NM_001145717 NP_775947 Q8N8W4 PLPL1_HUMAN Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA. 223 lipid catabolic process hydrolase activity breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 22 GTTCTCCCTGGAGAACATCGC 0.612000 70 40 0 0 0.000680045 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33960632 33960633 + Missense_Mutation DNP CC TT TT TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:33960632_33960633CC>TT uc001bxj.4 + 7 2855_2856 c.2688_2689CC>TT c.(2686-2691)atccat>atTTat p.H897Y ZSCAN20_uc009vui.3_Missense_Mutation_p.H896Y NM_145238 NP_660281 P17040 ZSC20_HUMAN Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA. 897 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) ACCAAAGAATCCATACGGGAGA 0.500000 78 32 0 0 6.4e-05 0 0 SLC39A5 283375 broad.mit.edu 37 12 56629484 56629484 + Splice_Site SNP A T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:56629484A>T uc010sqj.2 + 8 1202 c.945_splice c.e8+1 p.P315_splice SLC39A5_uc010sqi.2_Silent_p.P206P|SLC39A5_uc010sqk.2_Splice_Site_p.P315_splice NM_173596 NP_775867 Q6ZMH5 S39A5_HUMAN Homo sapiens solute carrier family 39 (metal ion transporter), member 5 (SLC39A5), transcript variant 1, mRNA. 315 zinc ion transport basolateral plasma membrane|integral to membrane metal ion transmembrane transporter activity NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GGCTCAGGCCAGTGAGTGATA 0.622000 75 67 0 0 0.000781405 0 0 TDP2 51567 broad.mit.edu 37 6 24654655 24654655 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr6:24654655G>A uc003nej.3 - 4 646 c.621C>T c.(619-621)aaC>aaT p.N207N TDP2_uc010jpu.1_Silent_p.N207N NM_016614 NP_057698 O95551 TYDP2_HUMAN Homo sapiens tyrosyl-DNA phosphodiesterase 2 (TDP2), mRNA. 207 cell surface receptor linked signaling pathway|double-strand break repair PML body 5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity kidney(2)|large_intestine(1)|lung(5)|ovary(1) 9 CACATAAAAGGTTTCTCATCA 0.264000 Direct reversal of damage 76 16 0 0 0.000958276 0 0 B4GALT4 8702 broad.mit.edu 37 3 118937547 118937547 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr3:118937547G>A uc003ecg.3 - 5 1388 c.747C>T c.(745-747)ttC>ttT p.F249F B4GALT4_uc003ece.1_Silent_p.F249F|B4GALT4_uc003ech.3_Silent_p.F249F|B4GALT4_uc003eci.3_Silent_p.F249F|B4GALT4_uc011biy.1_Intron NM_212543 NP_997708 O60513 B4GT4_HUMAN Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4 (B4GALT4), transcript variant 1, mRNA. 249 membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane N-acetyllactosamine synthase activity|metal ion binding breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2) 14 GBM - Glioblastoma multiforme(114;0.222) N-Acetyl-D-glucosamine(DB00141) AGTTGTTAGAGAATCCATTCA 0.498000 75 24 0 0 0.00047179 0 0 HEPH 9843 broad.mit.edu 37 X 65476031 65476031 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chrX:65476031C>T uc011moz.2 + 16 3054 c.2917C>T c.(2917-2919)Cgg>Tgg p.R973W HEPH_uc004dwn.3_Missense_Mutation_p.R922W|HEPH_uc004dwo.3_Missense_Mutation_p.R652W|HEPH_uc010nkr.3_Missense_Mutation_p.R730W|HEPH_uc011mpa.2_Missense_Mutation_p.R922W|HEPH_uc010nks.3_Missense_Mutation_p.R211W NM_138737 NP_055614 Q9BQS7 HEPH_HUMAN Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA. 919 Plastocyanin-like 6. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 TGACATGGATCGGGAATTTGC 0.493000 6 38 0 0 0.00148497 0 0 MYO7A 4647 broad.mit.edu 37 11 76909646 76909646 + Silent SNP C T T rs111033259 TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr11:76909646C>T uc001oyb.2 + 33 4820 c.4548C>T c.(4546-4548)atC>atT p.I1516I MYO7A_uc010rsm.1_Silent_p.I1505I|MYO7A_uc001oyc.2_Silent_p.I1516I|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Silent_p.I727I NM_000260 NP_000251 Q13402 MYO7A_HUMAN Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA. 1516 FERM 1. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse ATP binding|actin binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 TCCCAGAGATCATGGCCGTGT 0.602000 5 15 0 0 0.000308642 0 0 ERLEC1 27248 broad.mit.edu 37 2 54041733 54041733 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:54041733C>T uc002rxl.3 + 11 1560 c.1280C>T c.(1279-1281)cCa>cTa p.P427L GPR75-ASB3_uc002rxi.4_Intron|ERLEC1_uc002rxm.3_Intron|ERLEC1_uc002rxn.3_Missense_Mutation_p.P373L NM_015701 NP_056516 Q96DZ1 ERLEC_HUMAN Homo sapiens endoplasmic reticulum lectin 1 (ERLEC1), transcript variant 1, mRNA. 427 ER-associated protein catabolic process endoplasmic reticulum lumen glycoprotein binding|protein binding endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1) 18 ACTGACAAACCAAGACAGGTG 0.323000 15 7 0 0 0.000442599 0 0 R3HDM2 22864 broad.mit.edu 37 12 57662112 57662112 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:57662112G>A uc009zpm.1 - 15 1997 c.1962C>T c.(1960-1962)atC>atT p.I654I R3HDM2_uc010srn.1_Non-coding_Transcript|R3HDM2_uc001snu.2_Silent_p.I349I|R3HDM2_uc001snr.2_Silent_p.I381I|R3HDM2_uc001sns.2_Silent_p.I654I|R3HDM2_uc001snt.2_Silent_p.I668I NM_014925 NP_055740 Q9Y2K5 R3HD2_HUMAN Homo sapiens R3H domain containing 2 (R3HDM2), mRNA. 654 Gln-rich. nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 GAGCAGGTGGGATCATGCTAT 0.567000 33 12 0 0 0.00185496 0 0 ACTL9 284382 broad.mit.edu 37 19 8808716 8808716 + Silent SNP T C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:8808716T>C uc002mkl.2 - 0 457 c.336A>G c.(334-336)caA>caG p.Q112Q NM_178525 NP_848620 Q8TC94 ACTL9_HUMAN Homo sapiens actin-like 9 (ACTL9), mRNA. 112 cytoplasm|cytoskeleton NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 36 TGCGCAGGGGTTGCACCAGCG 0.706000 21 9 0 0 0.000274275 0 0 CAMSAP2 23271 broad.mit.edu 37 1 200801385 200801385 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:200801385G>A uc001gvl.3 + 5 1006 c.736G>A c.(736-738)Gaa>Aaa p.E246K CAMSAP2_uc001gvk.3_Missense_Mutation_p.E235K|CAMSAP2_uc001gvm.3_Missense_Mutation_p.E235K NM_203459 NP_982284 Q08AD1 CAMP2_HUMAN Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA. 246 CH. cytoplasm|microtubule protein binding TCCATTGGTAGAAAATTTGTT 0.368000 37 23 0 0 0.00278032 0 0 ECT2 1894 broad.mit.edu 37 3 172486801 172486801 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr3:172486801C>T uc003fii.2 + 11 1341 c.1203C>T c.(1201-1203)acC>acT p.T401T ECT2_uc010hwv.1_Silent_p.T432T|ECT2_uc003fih.2_Silent_p.T400T|ECT2_uc003fij.1_Silent_p.T401T|ECT2_uc003fik.1_Silent_p.T401T|ECT2_uc003fil.1_Silent_p.T432T NM_018098 NP_060568 Q9H8V3 ECT2_HUMAN Homo sapiens epithelial cell transforming sequence 2 oncogene (ECT2), mRNA. 401 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) TTTCAGACACCCCAAAGTCTT 0.363000 41 24 0 0 0.00047179 0 0 CNTROB 116840 broad.mit.edu 37 17 7850948 7850949 + Missense_Mutation DNP CC TT TT TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr17:7850948_7850949CC>TT uc002gjp.3 + 14 3003_3004 c.2053_2054CC>TT c.(2053-2055)cct>TTt p.P685F CNTROB_uc002gjq.3_Missense_Mutation_p.P685F|CNTROB_uc002gjr.3_Missense_Mutation_p.P587F NM_001037144 NP_001032221 Q8N137 CNTRB_HUMAN Homo sapiens centrobin, centrosomal BRCA2 interacting protein (CNTROB), transcript variant 2, mRNA. 685 Pro-rich.|Required for centrosome localization. centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9) 25 Prostate(122;0.173) AAGGCCATTCCCTGAGGAAGAT 0.559000 73 29 0 0 6.4e-05 0 0 TCRA 0 broad.mit.edu 37 14 22447109 22447109 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr14:22447109C>T uc010tmm.2 + 1 282 c.90C>T c.(88-90)gtC>gtT p.V30V TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Non-coding_Transcript Homo sapiens mRNA for unknown variable region, clone: SEB 74. ACAGCCAAGTCCCTGTCTTTG 0.468000 OREG0022573 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 55 36 0 0 0.00128727 0 0 C10orf96 374355 broad.mit.edu 37 10 118101634 118101634 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr10:118101634G>A uc001lck.3 + 4 620 c.369G>A c.(367-369)aaG>aaA p.K123K NM_198515 NP_940917 P0C7W6 CJ096_HUMAN Homo sapiens chromosome 10 open reading frame 96 (C10orf96), mRNA. 123 kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3) 18 Lung NSC(174;0.204)|all_lung(145;0.248) all cancers(201;0.014) AAATAACAAAGAAAAGAGAGC 0.279000 11 49 0 0 0.000781405 0 0 GLT6D1 360203 broad.mit.edu 37 9 138516118 138516118 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr9:138516118G>A uc010nbd.1 - 4 910 c.656C>T c.(655-657)cCg>cTg p.P219L NM_182974 NP_892019 Q7Z4J2 GL6D1_HUMAN Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA. 219 P -> S (in dbSNP:rs17040344). carbohydrate metabolic process integral to membrane transferase activity, transferring hexosyl groups p.P219P(1) endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 15 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05) CTGTCCAAACGGGATGCAAGC 0.488000 60 21 0 0 0.000586117 0 0 CER1 9350 broad.mit.edu 37 9 14720328 14720328 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr9:14720328C>T uc003zlj.3 - 1 609 c.564G>A c.(562-564)ggG>ggA p.G188G NM_005454 NP_005445 O95813 CER1_HUMAN Homo sapiens cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (CER1), mRNA. 188 CTCK. BMP signaling pathway extracellular space cytokine activity p.G188R(1) endometrium(2)|large_intestine(3)|lung(6) 11 GBM - Glioblastoma multiforme(50;3.16e-06) ACCCGCATTTCCCAAAGCAAA 0.448000 9 24 0 0 0.00047179 0 0 WDR93 56964 broad.mit.edu 37 15 90280958 90280958 + Missense_Mutation SNP G C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr15:90280958G>C uc002boj.3 + 14 1864 c.1763G>C c.(1762-1764)cGa>cCa p.R588P WDR93_uc010bnr.3_Missense_Mutation_p.R560P|WDR93_uc010upz.2_Missense_Mutation_p.R305P NM_020212 NP_064597 Q6P2C0 WDR93_HUMAN Homo sapiens WD repeat domain 93 (WDR93), mRNA. 588 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 33 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) TTCCTGCTCCGAGGTACAGAA 0.562000 14 18 0 0 0.000566183 0 0 ZNHIT1 10467 broad.mit.edu 37 7 100866992 100866992 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:100866992C>T uc003uye.3 + 3 804 c.312C>T c.(310-312)gcC>gcT p.A104A ZNHIT1_uc003uyf.3_Non-coding_Transcript NM_006349 NP_006340 O43257 ZNHI1_HUMAN Homo sapiens zinc finger, HIT-type containing 1 (ZNHIT1), mRNA. 104 metal ion binding|protein binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2) 11 Lung NSC(181;0.168)|all_lung(186;0.215) ACCTGACGGCCTGTGCGGGAC 0.667000 33 34 0 0 0.00283554 0 0 KDR 3791 broad.mit.edu 37 4 55972913 55972913 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr4:55972913C>T uc003has.3 - 10 1779 c.1477G>A c.(1477-1479)Gga>Aga p.G493R KDR_uc003hat.1_Missense_Mutation_p.G493R|KDR_uc011bzx.2_Missense_Mutation_p.G493R NM_002253 NP_002244 P35968 VGFR2_HUMAN Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA. 493 Ig-like C2-type 5. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TTATTTCCTCCCTGGAAGTCC 0.333000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 39 34 0 0 0.00283554 0 0 KRT34 3885 broad.mit.edu 37 17 39537404 39537404 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr17:39537404C>T uc002hwm.3 - 2 630 c.618G>A c.(616-618)agG>agA p.R206R NM_021013 NP_066293 O76011 KRT34_HUMAN Homo sapiens keratin 34 (KRT34), mRNA. 206 Coil 1B.|Rod. epidermis development intermediate filament protein binding|structural molecule activity p.R205H(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(137;0.000496) CATCCAGGATCCTGCGTATGC 0.552000 34 32 0 0 0.0024448 0 0 MUC16 94025 broad.mit.edu 37 19 9056344 9056344 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:9056344C>T uc002mkp.3 - 2 31306 c.31102G>A c.(31102-31104)Gag>Aag p.E10368K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 10370 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTGCTGCTCTCTGTCCCAAGA 0.478000 59 23 0 0 0.00278032 0 0 WBSCR28 135886 broad.mit.edu 37 7 73280093 73280093 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:73280093G>A uc003tzk.2 + 2 724 c.688G>A c.(688-690)Gag>Aag p.E230K WBSCR28_uc003tzl.2_Missense_Mutation_p.E129K NM_182504 NP_872310 Q6UE05 WBS28_HUMAN Homo sapiens Williams-Beuren syndrome chromosome region 28 (WBSCR28), mRNA. 230 integral to membrane breast(2)|kidney(2)|lung(6)|skin(1) 11 Lung NSC(55;0.159) CGAGGCCCAGGAGGTTGAACC 0.617000 94 124 0 0 0.000781405 0 0 CRYGN 155051 broad.mit.edu 37 7 151135093 151135093 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:151135093G>A uc003wke.3 - 1 355 c.259C>T c.(259-261)Cct>Tct p.P87S CRYGN_uc003wkf.3_Missense_Mutation_p.P87S|CRYGN_uc003wkg.3_Non-coding_Transcript|CRYGN_uc010lqd.1_5'Flank NM_144727 NP_653328 Q8WXF5 CRGN_HUMAN Homo sapiens crystallin, gamma N (CRYGN), mRNA. 87 Beta/gamma crystallin 'Greek key' 2. central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4) 8 OV - Ovarian serous cystadenocarcinoma(82;0.00358) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ATTCCTACAGGCCGACAGGAG 0.637000 55 30 0 0 0.000692331 0 0 PBRM1 55193 broad.mit.edu 37 3 52702643 52702643 + Nonsense_Mutation SNP A C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr3:52702643A>C uc003des.2 - 2 267 c.255T>G c.(253-255)taT>taG p.Y85* PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Nonsense_Mutation_p.Y85*|PBRM1_uc003der.2_Nonsense_Mutation_p.Y85*|PBRM1_uc003det.2_Nonsense_Mutation_p.Y85*|PBRM1_uc003deu.2_Nonsense_Mutation_p.Y85*|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Nonsense_Mutation_p.Y85*|PBRM1_uc010hmk.1_Nonsense_Mutation_p.Y85*|PBRM1_uc003dey.2_Nonsense_Mutation_p.Y85*|PBRM1_uc003dez.1_Nonsense_Mutation_p.Y85*|PBRM1_uc003dfb.1_5'UTR NM_181042 NP_060635 Q86U86 PB1_HUMAN Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA. 85 Bromo 1. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome DNA binding|chromatin binding|protein binding p.Y85fs*10(1) breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) AAACCACTTCATAATAGTCTG 0.299000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 9 34 0 0 0.00058488 0 0 DLL3 10683 broad.mit.edu 37 19 39994845 39994845 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:39994845C>T uc002olx.2 + 4 845 c.787C>T c.(787-789)Ccg>Tcg p.P263S DLL3_uc010egq.3_Missense_Mutation_p.P263S|DLL3_uc002olw.2_Missense_Mutation_p.P263S NM_016941 NP_058637 Q9NYJ7 DLL3_HUMAN Homo sapiens delta-like 3 (Drosophila) (DLL3), transcript variant 1, mRNA. 263 Notch signaling pathway|skeletal system development integral to membrane Notch binding p.P263P(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7) 19 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CCCCAGGGGCCCGTCCTCTGC 0.652000 31 10 0 0 0.000978159 0 0 SLITRK1 114798 broad.mit.edu 37 13 84455231 84455231 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr13:84455231C>T uc001vlk.3 - 0 1298 c.412G>A c.(412-414)Gat>Aat p.D138N NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA. 138 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) AAATTAAAATCAGCCTGGAGA 0.463000 63 69 0 0 0.000781405 0 0 ZP3 7784 broad.mit.edu 37 7 76063364 76063364 + Silent SNP C G G TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:76063364C>G uc003ufd.4 + 4 733 c.723C>G c.(721-723)gtC>gtG p.V241V ZP3_uc003ufc.4_Silent_p.V190V|ZP3_uc003ufe.3_Silent_p.V149V NM_001110354 NP_009086 P21754 ZP3_HUMAN Homo sapiens zona pellucida glycoprotein 3 (sperm receptor) (ZP3), transcript variant 1, mRNA. 241 ZP. binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of T cell proliferation|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein kinase activity|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade Golgi apparatus|endoplasmic reticulum|extracellular space|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding endometrium(1)|large_intestine(3)|lung(2)|skin(1) 7 GCTGTCTTGTCGACGGTCTCA 0.537000 96 41 0 0 0.000781405 0 0 AGT 183 broad.mit.edu 37 1 230841909 230841909 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:230841909C>T uc001hty.4 - 2 1402 c.894G>A c.(892-894)caG>caA p.Q298Q AGT_uc009xff.3_Silent_p.Q270Q NM_000029 NP_000020 P01019 ANGT_HUMAN Homo sapiens angiotensinogen (serpin peptidase inhibitor, clade A, member 8) (AGT), mRNA. 298 G-protein signaling, coupled to cGMP nucleotide second messenger|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation extracellular space|soluble fraction acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5) 25 Breast(184;0.0735)|Ovarian(103;0.183) all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167) GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641) CCCAGAACTCCTGGGGCTCGG 0.582000 48 18 0 0 0.000958276 0 0 GLCE 26035 broad.mit.edu 37 15 69560974 69560974 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr15:69560974C>T uc002ary.1 + 4 1473 c.1245C>T c.(1243-1245)aaC>aaT p.N415N NM_015554 NP_056369 O94923 GLCE_HUMAN Homo sapiens glucuronic acid epimerase (GLCE), mRNA. 415 heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process Golgi membrane|integral to membrane UDP-glucuronate 5'-epimerase activity NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 18 TAGTAAGGAACCAGGATGAGA 0.493000 76 26 0 0 0.000720815 0 0 abParts 0 broad.mit.edu 37 14 106379104 106379104 + Splice_Site SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr14:106379104G>A uc021ser.1 - 3377 c.53578_splice c.e3377-1 KIAA0125_uc001ysq.3_Intron|KIAA0125_uc001ysr.3_Intron|KIAA0125_uc001yss.3_Intron Parts of antibodies, mostly variable regions. TCACACAGTAGGAGGACCCTT 0.577000 14 8 0 0 0.000673444 0 0 LRP1B 53353 broad.mit.edu 37 2 141777525 141777525 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:141777525G>A uc002tvj.1 - 11 2908 c.1936C>T c.(1936-1938)Cat>Tat p.H646Y LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 646 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCTCTGGGATGAGACATTTCA 0.373000 TSP Lung(27;0.18) 35 12 0 0 0.00136819 0 0 RNASEL 6041 broad.mit.edu 37 1 182551309 182551309 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:182551309C>T uc009wxz.2 - 3 1908 c.1651G>A c.(1651-1653)Gtt>Att p.V551I RNASEL_uc001gpk.3_Missense_Mutation_p.V551I|RNASEL_uc009wya.1_3'UTR NM_021133 NP_066956 Q05823 RN5A_HUMAN Homo sapiens ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (RNASEL), mRNA. 551 Protein kinase. mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|RNA binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1) 27 gaaagttgaaccaCCTCTTCA 0.483000 179 25 0 0 0.00106085 0 0 CSRNP1 64651 broad.mit.edu 37 3 39185825 39185825 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr3:39185825C>T uc003cjg.3 - 3 797 c.583G>A c.(583-585)Gaa>Aaa p.E195K CSRNP1_uc003cjh.3_Missense_Mutation_p.E195K NM_033027 NP_149016 Q96S65 CSRN1_HUMAN Homo sapiens cysteine-serine-rich nuclear protein 1 (CSRNP1), mRNA. 195 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3) 24 AAGCTCACTTCTTCCAACCGG 0.637000 15 48 0 0 0.000781405 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79082136 79082136 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr15:79082136C>T uc002bej.4 - 6 1284 c.1073G>A c.(1072-1074)gGa>gAa p.G358E ADAMTS7_uc010und.1_Missense_Mutation_p.G358E|ADAMTS7_uc002bek.1_Missense_Mutation_p.G358E NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA. 358 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 ATGGGACAGTCCCAGGGTCTC 0.652000 5 9 0 0 0.000673444 0 0 IGLL3P 91353 broad.mit.edu 37 22 25714287 25714287 + RNA SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr22:25714287C>T uc021wnj.1 + 0 c.64C>T Homo sapiens immunoglobulin lambda-like polypeptide 3, pseudogene (IGLL3P), non-coding RNA. cervix(1)|lung(4)|skin(1)|stomach(3) 9 GGTTTCAATCCAAGCATAATT 0.617000 54 31 0 0 0.000692331 0 0 MDM1 56890 broad.mit.edu 37 12 68724898 68724898 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:68724898G>A uc001stz.2 - 1 258 c.122C>T c.(121-123)tCa>tTa p.S41L MDM1_uc009zqv.1_5'UTR|MDM1_uc010stc.1_Missense_Mutation_p.S41L|MDM1_uc001sua.4_Missense_Mutation_p.S41L|MDM1_uc010std.2_Missense_Mutation_p.S41L NM_017440 NP_059136 Q8TC05 MDM1_HUMAN Homo sapiens Mdm1 nuclear protein homolog (mouse) (MDM1), transcript variant 1, mRNA. 41 nucleus breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7) 33 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000174) TAATTGATCTGATCTAAGTCC 0.448000 103 55 0 0 0.000781405 0 0 CDSN 1041 broad.mit.edu 37 6 31084770 31084770 + Missense_Mutation SNP C A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr6:31084770C>A uc003nsm.2 - 1 678 c.622G>T c.(622-624)Ggc>Tgc p.G208C PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron NM_001264 NP_001255 Q15517 CDSN_HUMAN Homo sapiens corneodesmosin (CDSN), mRNA. 208 Ser-rich. cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1) 10 ACGCTTTGGCCACTGCTGGAT 0.587000 94 13 3.32936e-07 1.34005e-06 0.00074312 1 0 PCDHAC2 56134 broad.mit.edu 37 5 140256947 140256947 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr5:140256947G>A uc003lic.2 + 0 2017 c.1890G>A c.(1888-1890)gaG>gaA p.E630E PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.E630E NM_018903 NP_061726 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA. 641 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.D629N(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACACTGGCGAGATCAGCACGA 0.672000 14 31 0 0 0.00283554 0 0 C4orf22 255119 broad.mit.edu 37 4 81884751 81884751 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr4:81884751C>T uc010ijp.3 + 6 787 c.738C>T c.(736-738)tcC>tcT p.S246S C4orf22_uc003hmf.3_Silent_p.S229S NM_001206997 NP_001193926 Q6V702 CD022_HUMAN Homo sapiens chromosome 4 open reading frame 22 (C4orf22), transcript variant 1, mRNA. 229 NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5) 15 ACCACATTTCCAGAAGGAAGA 0.343000 48 20 0 0 0.00121646 0 0 CTSB 1508 broad.mit.edu 37 8 11705270 11705270 + Missense_Mutation SNP G C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:11705270G>C uc003wuq.3 - 6 756 c.594C>G c.(592-594)tgC>tgG p.C198W CTSB_uc003wul.3_Missense_Mutation_p.C135W|CTSB_uc010lsc.3_Missense_Mutation_p.C74W|CTSB_uc011kxl.2_Missense_Mutation_p.C119W|CTSB_uc003wum.3_Missense_Mutation_p.C198W|CTSB_uc003wun.3_Missense_Mutation_p.C198W|CTSB_uc003wuo.3_Missense_Mutation_p.C198W|CTSB_uc003wup.3_Missense_Mutation_p.C198W|CTSB_uc003wuu.3_Missense_Mutation_p.C54W NM_001908 NP_680093 P07858 CATB_HUMAN Homo sapiens cathepsin B (CTSB), transcript variant 1, mRNA. 198 proteolysis|regulation of apoptosis|regulation of catalytic activity lysosome|melanosome cysteine-type endopeptidase activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1) 16 all_epithelial(15;0.205) STAD - Stomach adenocarcinoma(15;0.00546) COAD - Colon adenocarcinoma(149;0.184) CCTCCCCCGTGCATGGGGGCC 0.627000 129 32 0 0 0.000692331 0 0 ARSF 416 broad.mit.edu 37 X 3030306 3030306 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chrX:3030306C>T uc022brz.1 + 10 1618 c.1482C>T c.(1480-1482)ttC>ttT p.F494F ARSF_uc004cre.2_Silent_p.F494F|ARSF_uc004crf.2_Silent_p.F494F NM_001201538 NP_001188467 P54793 ARSF_HUMAN Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA. 494 extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GCAGATGTTTCGGAGAACAGG 0.572000 12 55 0 0 0.000781405 0 0 GNL1 2794 broad.mit.edu 37 6 30515258 30515258 + Silent SNP C A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr6:30515258C>A uc003nqh.3 - 8 2540 c.1149G>T c.(1147-1149)cgG>cgT p.R383R GNL1_uc011dmi.2_Silent_p.R180R|GNL1_uc011dmj.2_Silent_p.R381R|GNL1_uc011dmk.2_Silent_p.R38R NM_005275 NP_005266 P36915 GNL1_HUMAN Homo sapiens guanine nucleotide binding protein-like 1 (GNL1), mRNA. 383 G. T cell mediated immunity|response to DNA damage stimulus|signal transduction extracellular space|intracellular GTP binding|structural molecule activity p.G382G(1) cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 25 TCACGACTTTCCGCCCCACCA 0.517000 81 110 1.03447e-49 4.24844e-49 0.000781405 1 0 PEX16 9409 broad.mit.edu 37 11 45939015 45939015 + Nonsense_Mutation SNP C A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr11:45939015C>A uc001nbt.3 - 1 454 c.142G>T c.(142-144)Gag>Tag p.E48* PEX16_uc001nbu.3_Nonsense_Mutation_p.E48* NM_057174 NP_476515 Q9Y5Y5 PEX16_HUMAN Homo sapiens peroxisomal biogenesis factor 16 (PEX16), transcript variant 2, mRNA. 48 ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane endoplasmic reticulum membrane|integral to peroxisomal membrane protein C-terminus binding large_intestine(2)|lung(2)|ovary(2)|skin(1) 7 GBM - Glioblastoma multiforme(35;0.223) TCACCCAGCTCTGACAGCTCG 0.647000 4 14 3.32936e-07 1.34005e-06 0.00074312 1 0 MIER2 54531 broad.mit.edu 37 19 307350 307350 + Missense_Mutation SNP G T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:307350G>T uc002lok.1 - 12 1394 c.1385C>A c.(1384-1386)cCg>cAg p.P462Q NM_017550 NP_060020 Q8N344 MIER2_HUMAN Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA. 462 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304) 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) GTCTGGCTCCGGAGCAGTGAC 0.677000 11 11 1.08611e-07 4.38793e-07 0.000978159 1 0 GJC1 10052 broad.mit.edu 37 17 42883090 42883090 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr17:42883090C>T uc002ihj.3 - 1 607 c.96G>A c.(94-96)cgG>cgA p.R32R GJC1_uc002ihk.3_Silent_p.R32R|GJC1_uc002ihl.3_Silent_p.R32R|GJC1_uc021tyf.1_Silent_p.R32R NM_005497 NP_005488 P36383 CXG1_HUMAN Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA. 32 cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport connexon complex|integral to membrane NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1) 19 Prostate(33;0.0959) TAAGGACGATCCGGAAGACAA 0.478000 39 14 0 0 0.00185496 0 0 SLC47A1 55244 broad.mit.edu 37 17 19459367 19459367 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr17:19459367G>A uc002gvx.3 + 9 999 c.913G>A c.(913-915)Gtg>Atg p.V305M SLC47A1_uc010vyy.1_Non-coding_Transcript|SLC47A1_uc002gvy.1_Missense_Mutation_p.V305M|SLC47A1_uc010vyz.1_Missense_Mutation_p.V282M|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Missense_Mutation_p.V110M|SLC47A1_uc010vza.1_Missense_Mutation_p.V17M|SLC47A1_uc010vzb.1_Missense_Mutation_p.V39M|SLC47A1_uc010vzc.1_5'UTR|SNORA59B_uc002gvz.1_5'Flank NM_018242 NP_060712 Q96FL8 S47A1_HUMAN Homo sapiens solute carrier family 47, member 1 (SLC47A1), mRNA. 305 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) GGCCATCATTGTGTACATGGT 0.547000 33 7 0 0 0.000442599 0 0 ARIH2 10425 broad.mit.edu 37 3 49008135 49008135 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr3:49008135C>T uc003cvb.3 + 7 1080 c.768C>T c.(766-768)ttC>ttT p.F256F ARIH2_uc003cvc.3_Silent_p.F256F|ARIH2_uc003cvf.3_Silent_p.F174F|ARIH2_uc010hkl.3_Silent_p.F256F NM_006321 NP_006312 O95376 ARI2_HUMAN Homo sapiens ariadne homolog 2 (Drosophila) (ARIH2), mRNA. 256 developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269) ACGAGGTCTTCTGGTAAGAGT 0.597000 3 39 0 0 0.000953801 0 0 KAT8 84148 broad.mit.edu 37 16 31141809 31141809 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr16:31141809G>A uc002eay.3 + 8 1057 c.1039G>A c.(1039-1041)Ggc>Agc p.G347S KAT8_uc002eax.3_Missense_Mutation_p.G347S|KAT8_uc002eaz.3_Missense_Mutation_p.G189S|KAT8_uc002eba.3_Missense_Mutation_p.G131S NM_032188 NP_115564 Q9H7Z6 MYST1_HUMAN Homo sapiens K(lysine) acetyltransferase 8 (KAT8), transcript variant 1, mRNA. 347 histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex|MSL complex histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding GAGCACAGTCGGCTCCCCGGA 0.622000 12 19 0 0 0.000958276 0 0 ANGEL1 23357 broad.mit.edu 37 14 77272779 77272779 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr14:77272779G>A uc001xsv.3 - 4 1473 c.1360C>T c.(1360-1362)Cat>Tat p.H454Y NM_015305 NP_056120 Q9UNK9 ANGE1_HUMAN Homo sapiens angel homolog 1 (Drosophila) (ANGEL1), mRNA. 454 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 22 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) GGCATCCCATGGTACTGGAGC 0.537000 30 10 0 0 0.00136819 0 0 ZNF474 133923 broad.mit.edu 37 5 121488724 121488724 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr5:121488724G>A uc003ksv.3 + 1 1415 c.1039G>A c.(1039-1041)Gta>Ata p.V347I ZNF474_uc021ycy.1_Missense_Mutation_p.V347I NM_207317 NP_997200 Q6S9Z5 ZN474_HUMAN Homo sapiens zinc finger protein 474 (ZNF474), mRNA. 347 intracellular zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1) 21 all_cancers(142;0.229)|Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415) AACTGATAAGGTAATTCATGC 0.468000 44 8 0 0 0.000274275 0 0 PARP1 142 broad.mit.edu 37 1 226562022 226562022 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:226562022G>A uc001hqd.4 - 13 2146 c.1975C>T c.(1975-1977)Cct>Tct p.P659S NM_001618 NP_001609 P09874 PARP1_HUMAN Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA. 659 cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) TTGGTGCCAGGATTTACTGTC 0.453000 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 12 54 0 0 0.000781405 0 0 TLL1 7092 broad.mit.edu 37 4 166976365 166976365 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr4:166976365G>A uc003irh.2 + 12 2309 c.1662G>A c.(1660-1662)atG>atA p.M554I TLL1_uc011cjn.2_Missense_Mutation_p.M577I|TLL1_uc011cjo.2_Missense_Mutation_p.M378I NM_012464 NP_036596 O43897 TLL1_HUMAN Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA. 554 CUB 2. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) CTTTGTGGATGAAGTTTGTTT 0.358000 55 29 0 0 0.000814825 0 0 DPY19L2P1 554236 broad.mit.edu 37 7 35163625 35163625 + Missense_Mutation SNP T G G TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:35163625T>G uc003teq.1 - 12 1578 c.471A>C c.(469-471)ttA>ttC p.L157F DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA. CTGAAACGCCTAAGATTTTAG 0.318000 128 25 0 0 0.00058488 0 0 COL14A1 7373 broad.mit.edu 37 8 121211734 121211734 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:121211734G>A uc003yox.3 + 7 1071 c.806G>A c.(805-807)gGa>gAa p.G269E COL14A1_uc003yoy.3_5'UTR|COL14A1_uc010mde.1_Intron NM_021110 NP_066933 Q05707 COEA1_HUMAN Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA. 269 VWFA 1. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) ATCACAGATGGAAAATCCCAA 0.383000 52 46 0 0 0.00222228 0 0 KCNG4 93107 broad.mit.edu 37 16 84271081 84271081 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr16:84271081G>A uc010voc.2 - 1 132 c.11C>T c.(10-12)cCt>cTt p.P4L KCNG4_uc002fhu.1_Missense_Mutation_p.P4L NM_172347 NP_758857 Q8TDN1 KCNG4_HUMAN Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA. 4 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 31 GTCTCTGGAAGGCATGGGCAT 0.572000 34 11 0 0 0.00136819 0 0 NKX2-5 1482 broad.mit.edu 37 5 172659850 172659851 + Missense_Mutation DNP CC TT TT TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr5:172659850_172659851CC>TT uc003mcm.2 - 1 925_926 c.696_697GG>AA c.(694-699)ggggac>ggAAac p.D233N NKX2-5_uc010jjt.2_3'UTR|NKX2-5_uc011dfe.2_3'UTR NM_004387 NP_004378 P52952 NKX25_HUMAN Homo sapiens NK2 homeobox 5 (NKX2-5), transcript variant 1, mRNA. 233 Ala/Pro-rich. adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1) 12 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GGCGCCGAGTCCCCTAGGCATG 0.723000 28 8 0 0 6.4e-05 0 0 SMARCC2 6601 broad.mit.edu 37 12 56568535 56568535 + Nonsense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:56568535G>A uc001skb.3 - 15 1502 c.1396C>T c.(1396-1398)Cga>Tga p.R466* SMARCC2_uc001skd.3_Nonsense_Mutation_p.R466*|SMARCC2_uc001ska.3_Nonsense_Mutation_p.R466*|SMARCC2_uc001skc.3_Nonsense_Mutation_p.R466*|SMARCC2_uc010sqf.2_Nonsense_Mutation_p.R355* NM_003075 NP_003066 Q8TAQ2 SMRC2_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA. 466 SWIRM. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) ATAAAGTTTCGATAGGCCAGG 0.428000 49 67 0 0 0.000781405 0 0 MYH1 4619 broad.mit.edu 37 17 10404786 10404786 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr17:10404786C>T uc002gmo.3 - 26 3473 c.3379G>A c.(3379-3381)Gag>Aag p.E1127K AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 1127 muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CGCTCTGCCTCGATTTCCTCC 0.542000 19 32 0 0 0.0024448 0 0 CENPC1 1060 broad.mit.edu 37 4 68385046 68385046 + Missense_Mutation SNP A G G TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr4:68385046A>G uc003hdd.1 - 5 689 c.506T>C c.(505-507)gTa>gCa p.V169A CENPC1_uc010ihj.1_Non-coding_Transcript|CENPC1_uc010ihk.1_Non-coding_Transcript|CENPC1_uc010ihm.1_Missense_Mutation_p.V169A NM_001812 NP_001803 Q03188 CENPC_HUMAN Homo sapiens centromere protein C 1 (CENPC1), mRNA. 169 mitotic prometaphase condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol DNA binding NS(1)|breast(1)|kidney(5)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 23 ATTTTGTGATACAGATGTTTT 0.343000 110 19 0 0 0.000958276 0 0 PARS2 25973 broad.mit.edu 37 1 55224298 55224298 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:55224298G>A uc021ont.1 - 0 537 c.537C>T c.(535-537)ttC>ttT p.F179F PARS2_uc001cxy.3_Silent_p.F179F NM_152268 NP_689481 Q7L3T8 SYPM_HUMAN Homo sapiens prolyl-tRNA synthetase 2, mitochondrial (putative) (PARS2), nuclear gene encoding mitochondrial protein, mRNA. 179 prolyl-tRNA aminoacylation mitochondrial matrix ATP binding|proline-tRNA ligase activity breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1) 15 L-Proline(DB00172) GGTACAGCAGGAAGGGAAGCT 0.512000 67 32 0 0 0.00283554 0 0 FRG1B 284802 broad.mit.edu 37 20 29625905 29625905 + Missense_Mutation SNP T C C rs137871677 by1000genomes TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr20:29625905T>C uc010ztl.1 + 1 91 c.59T>C c.(58-60)cTt>cCt p.L20P FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA. p.L50P(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGAAAATATCTTGGTATAAAT 0.333000 74 5 0 0 0.000602214 0 0 ADCY1 107 broad.mit.edu 37 7 45725619 45725619 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:45725619C>T uc003tne.4 + 12 2150 c.2132C>T c.(2131-2133)tCg>tTg p.S711L NM_021116 NP_066939 Q08828 ADCY1_HUMAN Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA. 711 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) GTGGTCCTTTCGTCTGGGGGC 0.657000 18 38 0 0 0.000953801 0 0 SPINT1 6692 broad.mit.edu 37 15 41146000 41146000 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr15:41146000C>T uc001zna.3 + 4 1038 c.834C>T c.(832-834)ttC>ttT p.F278F SPINT1_uc001znb.3_Silent_p.F278F|SPINT1_uc001znc.3_Silent_p.F278F|SPINT1_uc010ucs.2_Silent_p.F278F NM_181642 NP_857593 O43278 SPIT1_HUMAN Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA. 278 BPTI/Kunitz inhibitor 1. extracellular region|membrane fraction protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) GCAAGAGTTTCGTTTATGGAG 0.572000 86 47 0 0 0.000680045 0 0 C7orf42 55069 broad.mit.edu 37 7 66413654 66413655 + Missense_Mutation DNP CC TT TT TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:66413654_66413655CC>TT uc003tvk.3 + 3 833_834 c.569_570CC>TT c.(568-570)gcc>gTT p.A190V C7orf42_uc010lah.3_Non-coding_Transcript NM_017994 NP_060464 Q9NWD8 CG042_HUMAN Homo sapiens chromosome 7 open reading frame 42 (C7orf42), mRNA. 190 integral to membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 17 ACCCTCACGGCCAGCCCTGGGG 0.599000 22 18 0 0 6.4e-05 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6528347 6528347 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:6528347G>A uc001anp.1 - 20 3278 c.2780C>T c.(2779-2781)cCt>cTt p.P927L PLEKHG5_uc001ann.1_Missense_Mutation_p.P887L|PLEKHG5_uc001ano.1_Missense_Mutation_p.P906L|PLEKHG5_uc001anq.1_Intron|TNFRSF25_uc001ana.3_5'Flank|TNFRSF25_uc001anb.3_5'Flank|TNFRSF25_uc001anc.3_5'Flank|TNFRSF25_uc001and.3_5'Flank|TNFRSF25_uc009vlz.3_5'Flank|TNFRSF25_uc001ane.3_5'Flank|TNFRSF25_uc001anf.3_5'Flank|TNFRSF25_uc001ang.3_5'Flank|TNFRSF25_uc001anh.3_5'Flank|TNFRSF25_uc001ani.1_5'Flank|PLEKHG5_uc001anj.1_Missense_Mutation_p.P411L|PLEKHG5_uc009vma.1_Missense_Mutation_p.P690L|PLEKHG5_uc010nzr.1_Missense_Mutation_p.P919L|PLEKHG5_uc001ank.1_Missense_Mutation_p.P850L|PLEKHG5_uc009vmb.1_Missense_Mutation_p.P850L|PLEKHG5_uc001anl.1_Missense_Mutation_p.P850L|PLEKHG5_uc001anm.1_Missense_Mutation_p.P850L NM_198681 NP_065682 O94827 PKHG5_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA. 906 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) TGGAGGGGAAGGAACTCGTGG 0.667000 10 14 0 0 0.000308642 0 0 ZC3H3 23144 broad.mit.edu 37 8 144522285 144522285 + Missense_Mutation SNP G C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:144522285G>C uc003yyd.2 - 10 2770 c.2741C>G c.(2740-2742)tCc>tGc p.S914C NM_015117 NP_055932 Q8IXZ2 ZC3H3_HUMAN Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA. 914 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) GGACTGCAGGGAGATGAAGGA 0.682000 70 7 0 0 0.000274275 0 0 ADCY8 114 broad.mit.edu 37 8 131880102 131880102 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:131880102G>A uc003ytd.4 - 8 2456 c.2200C>T c.(2200-2202)Cct>Tct p.P734S ADCY8_uc010mds.3_Intron NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 734 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding p.P734S(2)|p.P734L(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CTTGAAGAAGGAAGCAAACTT 0.353000 HNSCC(32;0.087) 69 22 0 0 0.00229938 0 0 POU6F1 5463 broad.mit.edu 37 12 51589948 51589948 + Silent SNP T C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:51589948T>C uc001rxy.3 - 1 246 c.54A>G c.(52-54)ggA>ggG p.G18G POU6F1_uc001rxz.3_Silent_p.G18G|POU6F1_uc001rya.3_Silent_p.G18G NM_002702 NP_002693 Q14863 PO6F1_HUMAN Homo sapiens POU class 6 homeobox 1 (POU6F1), transcript variant 1, mRNA. 18 Gln/Pro-rich. brain development|heart development|muscle organ development nucleus sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 11 ATGGAAGGGTTCCAATAACCT 0.607000 10 15 0 0 0.000422831 0 0 KRT8 3856 broad.mit.edu 37 12 53294408 53294408 + Silent SNP G A A rs150187239 byFrequency TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:53294408G>A uc009zmk.1 - 4 758 c.738C>T c.(736-738)acC>acT p.T246T KRT8_uc001sbd.2_Silent_p.T218T|KRT8_uc009zml.1_Silent_p.T218T|KRT8_uc009zmm.1_Silent_p.T218T NM_002273 NP_002264 P05787 K2C8_HUMAN Homo sapiens keratin 8 (KRT8), transcript variant 2, mRNA. 218 Linker 12.|Rod. cytoskeleton organization|interspecies interaction between organisms cytoplasm|keratin filament|nuclear matrix|nucleoplasm protein binding|structural molecule activity endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(357;0.108) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGATCTCGTCGGTCAGCCCTT 0.572000 50 29 0 0 0.000692331 0 0 DSP 1832 broad.mit.edu 37 6 7583514 7583514 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr6:7583514G>A uc003mxp.1 + 23 6298 c.6019G>A c.(6019-6021)Gaa>Aaa p.E2007K DSP_uc003mxq.1_Missense_Mutation_p.E1408K|DSP_uc021yle.1_Missense_Mutation_p.E1564K NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 2007 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AGTTGCTTCTGAAATCCAGCC 0.448000 37 66 0 0 0.000781405 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140712475 140712475 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr5:140712475G>A uc003lji.2 + 0 2224 c.2224G>A c.(2224-2226)Ggc>Agc p.G742S PCDHGC5_uc011dan.2_Missense_Mutation_p.G742S NM_018912 NP_061735 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA. 752 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCACTTTGTGGGCGTGGACGG 0.637000 64 14 0 0 0.00244969 0 0 SALL4 57167 broad.mit.edu 37 20 50408085 50408085 + Missense_Mutation SNP A G G TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr20:50408085A>G uc002xwh.4 - 1 1038 c.937T>C c.(937-939)Ttc>Ctc p.F313L SALL4_uc010gii.3_Missense_Mutation_p.F313L|SALL4_uc002xwi.4_Intron NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA. 313 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TTCAGAGTGAAGGGTGCCAGC 0.632000 36 52 0 0 0.000781405 0 0 ANKS1B 56899 broad.mit.edu 37 12 100219129 100219129 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:100219129G>A uc001tge.2 - 1 590 c.173C>T c.(172-174)tCg>tTg p.S58L ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Missense_Mutation_p.S58L NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA. 58 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) AGTGTAACCCGAACTGTCTGT 0.433000 6 12 0 0 0.00185496 0 0 RRP1B 23076 broad.mit.edu 37 21 45107506 45107506 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr21:45107506G>A uc002zdk.3 + 12 1365 c.1251G>A c.(1249-1251)ggG>ggA p.G417G RRP1B_uc002zdl.3_5'UTR NM_015056 NP_055871 Q14684 RRP1B_HUMAN Homo sapiens ribosomal RNA processing 1 homolog B (S. cerevisiae) (RRP1B), mRNA. 417 rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1) 21 STAD - Stomach adenocarcinoma(101;0.178) CAGGCCCAGGGGGTGCAGCCC 0.582000 1 30 0 0 0.00106085 0 0 ODZ2 57451 broad.mit.edu 37 5 167642177 167642177 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr5:167642177G>A uc010jjd.3 + 20 3951 c.3951G>A c.(3949-3951)tcG>tcA p.S1317S ODZ2_uc003lzr.4_Silent_p.S1087S|ODZ2_uc003lzt.4_Silent_p.S690S|ODZ2_uc010jje.3_Silent_p.S581S NM_001122679 NP_001116151 Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA. NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2) 122 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) CTGGGAATTCGGAAGTTGTGG 0.592000 108 14 0 0 0.00074312 0 0 LY86 9450 broad.mit.edu 37 6 6589038 6589038 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr6:6589038G>A uc003mwy.1 + 0 105 c.71G>A c.(70-72)gGg>gAg p.G24E LY86-AS1_uc003mww.4_Intron|LY86-AS1_uc003mwx.2_Intron NM_004271 NP_004262 O95711 LY86_HUMAN Homo sapiens lymphocyte antigen 86 (LY86), mRNA. 24 apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response extracellular space|plasma membrane large_intestine(2)|lung(6) 8 Ovarian(93;0.0377) GGCGGCGGTGGGAAAGCCTGG 0.562000 108 15 0 0 0.000566183 0 0 STATH 6779 broad.mit.edu 37 4 70865523 70865523 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr4:70865523C>T uc003heu.1 + 3 209 c.99C>T c.(97-99)ttC>ttT p.F33F STATH_uc003hev.1_Intron NM_003154 NP_003145 P02808 STAT_HUMAN Homo sapiens statherin (STATH), transcript variant 1, mRNA. 33 Missing (in statherin variants SV2 and SV3). biomineral tissue development|negative regulation of bone mineralization|ossification|saliva secretion extracellular region extracellular matrix constituent, lubricant activity|hydroxyapatite binding|protein binding|structural constituent of tooth enamel lung(2)|skin(1) 3 TTGGAAGATTCGGTGTAAGTG 0.308000 57 9 0 0 0.000673444 0 0 ADAM2 2515 broad.mit.edu 37 8 39679138 39679138 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:39679138G>A uc003xnj.3 - 4 386 c.311C>T c.(310-312)tCt>tTt p.S104F ADAM2_uc003xnk.3_Missense_Mutation_p.S104F|ADAM2_uc011lck.2_Missense_Mutation_p.S104F|ADAM2_uc003xnl.3_Missense_Mutation_p.S104F NM_001464 NP_001455 Q99965 ADAM2_HUMAN Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA. 104 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CATCACCACAGATTTTGGATA 0.284000 43 32 0 0 0.00128727 0 0 IGSF5 150084 broad.mit.edu 37 21 41173213 41173213 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr21:41173213C>T uc002yyo.3 + 8 1256 c.1153C>T c.(1153-1155)Cca>Tca p.P385S NM_001080444 NP_001073913 Q9NSI5 IGSF5_HUMAN Homo sapiens immunoglobulin superfamily, member 5 (IGSF5), mRNA. 385 integral to membrane|tight junction breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1) 23 Prostate(19;5.35e-06) TCCACCCAGGCCAGCAAGTCA 0.468000 6 24 0 0 0.001512 0 0 NSFL1C 55968 broad.mit.edu 37 20 1426367 1426367 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr20:1426367G>A uc002wfc.3 - 7 1762 c.894C>T c.(892-894)atC>atT p.I298I NSFL1C_uc021vzq.1_Silent_p.I184I|NSFL1C_uc002wfe.3_Silent_p.I267I NM_016143 NP_057227 Q9UNZ2 NSF1C_HUMAN Homo sapiens NSFL1 (p97) cofactor (p47) (NSFL1C), transcript variant 1, mRNA. 298 UBX. Golgi stack|chromosome|nucleus lipid binding|protein binding breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 16 GCCGAATTTGGATGTTTGTGG 0.512000 180 128 0 0 0.000781405 0 0 FOXR2 139628 broad.mit.edu 37 X 55650362 55650362 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chrX:55650362C>T uc004duo.3 + 0 530 c.218C>T c.(217-219)cCc>cTc p.P73L NM_198451 NP_940853 Q6PJQ5 FOXR2_HUMAN Homo sapiens forkhead box R2 (FOXR2), mRNA. 73 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 19 GATGGTCCTCCCTGTGAACCC 0.537000 5 20 0 0 0.00152264 0 0 MCTP1 79772 broad.mit.edu 37 5 94353135 94353135 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr5:94353135G>A uc003kkx.2 - 1 774 c.774C>T c.(772-774)ccC>ccT p.P258P MCTP1_uc003kkv.2_Silent_p.P37P|MCTP1_uc003kkw.2_Silent_p.P37P|MCTP1_uc003kkz.2_Intron NM_024717 NP_078993 Q6DN14 MCTP1_HUMAN Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA. 258 C2 1. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) GGTACATTCCGGGATCAGCCA 0.383000 58 91 0 0 0.000781405 0 0 THOC2 57187 broad.mit.edu 37 X 122767863 122767863 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chrX:122767863C>T uc004etu.3 - 19 2109 c.2077G>A c.(2077-2079)Gag>Aag p.E693K THOC2_uc011muh.1_Missense_Mutation_p.E618K NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN Homo sapiens THO complex 2 (THOC2), mRNA. 693 RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing THO complex part of transcription export complex RNA binding|protein binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 GTCATTTCCTCTGTAATTTCT 0.333000 12 58 0 0 0.000781405 0 0 TTC31 64427 broad.mit.edu 37 2 74719532 74719533 + Missense_Mutation DNP GG AA AA TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:74719532_74719533GG>AA uc002slt.2 + 10 1144_1145 c.1121_1122GG>AA c.(1120-1122)cgg>cAA p.R374Q TTC31_uc002sls.2_3'UTR|TTC31_uc002slu.2_Missense_Mutation_p.R228Q NM_022492 NP_071937 Q49AM3 TTC31_HUMAN Homo sapiens tetratricopeptide repeat domain 31 (TTC31), transcript variant 1, mRNA. 374 binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 GGCTGGCCCCGGGGCCTCTTCC 0.609000 25 20 0 0 6.4e-05 0 0 IL31RA 133396 broad.mit.edu 37 5 55212490 55212490 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr5:55212490G>A uc003jql.3 + 14 2029 c.1837G>A c.(1837-1839)Gag>Aag p.E613K IL31RA_uc003jqm.3_Missense_Mutation_p.E594K|IL31RA_uc003jqn.3_Missense_Mutation_p.E613K|IL31RA_uc021xyq.1_Missense_Mutation_p.E594K|IL31RA_uc003jqo.3_Missense_Mutation_p.E471K NM_139017 NP_001229568 Q8NI17 IL31R_HUMAN Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA. 581 JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) AAACCTGAAGGAGTCTGATGA 0.443000 74 27 0 0 0.000720815 0 0 VIL1 7429 broad.mit.edu 37 2 219292738 219292738 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:219292738C>T uc002vib.3 + 3 420 c.398C>T c.(397-399)tCc>tTc p.S133F VIL1_uc010zke.2_Intron|VIL1_uc002via.3_Missense_Mutation_p.S133F|VIL1_uc002vic.1_Missense_Mutation_p.S133F NM_007127 NP_009058 P09327 VILI_HUMAN Homo sapiens villin 1 (VIL1), mRNA. 133 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GAGACCAACTCCTATGACGTC 0.617000 35 33 0 0 0.00058488 0 0 TFRC 7037 broad.mit.edu 37 3 195782033 195782033 + Missense_Mutation SNP T C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr3:195782033T>C uc003fvz.4 - 16 2100 c.1817A>G c.(1816-1818)gAa>gGa p.E606G TFRC_uc003fwa.4_Missense_Mutation_p.E606G|TFRC_uc010hzy.3_Missense_Mutation_p.E525G|TFRC_uc011btr.2_Missense_Mutation_p.E324G NM_003234 NP_003225 P02786 TFR1_HUMAN Homo sapiens transferrin receptor (p90, CD71) (TFRC), transcript variant 1, mRNA. 606 Ligand-binding. cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport coated pit|endosome|integral to plasma membrane|melanosome peptidase activity|transferrin receptor activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00233) CAGGTTCAATTCAACATCATG 0.443000 T BCL6 NHL 19 157 0 0 0.000781405 0 0 ZNF33A 7581 broad.mit.edu 37 10 38344475 38344475 + Missense_Mutation SNP G T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr10:38344475G>T uc010qev.2 + 3 1545 c.1441G>T c.(1441-1443)Ggg>Tgg p.G481W ZNF33A_uc001izg.3_Missense_Mutation_p.G475W|ZNF33A_uc001izh.3_Missense_Mutation_p.G474W|ZNF33A_uc001izi.1_Intron|ZNF33A_uc021ppe.1_Missense_Mutation_p.G475W NM_006974 NP_008905 Q06730 ZN33A_HUMAN Homo sapiens zinc finger protein 33A (ZNF33A), transcript variant 2, mRNA. 474 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 TCTTGAGTGTGGGAAATCCTT 0.378000 5 16 3.32936e-07 1.34005e-06 0.00074312 1 0 FAM47C 442444 broad.mit.edu 37 X 37027692 37027692 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chrX:37027692C>T uc004ddl.2 + 0 1261 c.1209C>T c.(1207-1209)ttC>ttT p.F403F NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA. 403 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 CTCCTCTCTTCCCGGAGCCTC 0.612000 6 26 0 0 0.0024448 0 0 CYP4A11 1579 broad.mit.edu 37 1 47406984 47406984 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:47406984C>T uc001cqp.4 - 0 173 c.122G>A c.(121-123)aGg>aAg p.R41K CYP4A11_uc001cqq.2_Missense_Mutation_p.R41K|CYP4A11_uc010omm.1_Non-coding_Transcript NM_000778 NP_000769 Q02928 CP4AB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA. 41 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) CAGCCACTGCCTGTGCAGGTA 0.607000 35 36 0 0 0.00058488 0 0 RSPRY1 89970 broad.mit.edu 37 16 57250944 57250944 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr16:57250944C>T uc002elb.3 + 7 1176 c.898C>T c.(898-900)Ctc>Ttc p.L300F RSPRY1_uc002elc.3_Missense_Mutation_p.L300F|RSPRY1_uc002eld.3_Missense_Mutation_p.L300F NM_133368 NP_588609 Q96DX4 RSPRY_HUMAN Homo sapiens ring finger and SPRY domain containing 1 (RSPRY1), mRNA. 300 B30.2/SPRY. extracellular region zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3) 27 CTTAGACAATCTCTGTAAGTG 0.428000 50 56 0 0 0.000781405 0 0 CACNA1E 777 broad.mit.edu 37 1 181767596 181767596 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:181767596G>A uc009wxt.3 + 47 6763 c.6568G>A c.(6568-6570)Gag>Aag p.E2190K CACNA1E_uc001gow.3_Missense_Mutation_p.E2147K|CACNA1E_uc009wxs.3_Missense_Mutation_p.E2128K NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 2190 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TGATGGAAGCGAGGAGGGCTC 0.642000 38 13 0 0 0.00185496 0 0 RCC1 1104 broad.mit.edu 37 1 28858478 28858478 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:28858478C>T uc001bqb.2 + 5 636 c.237C>T c.(235-237)acC>acT p.T79T RCC1_uc001bqa.2_Silent_p.T79T|RCC1_uc001bqc.2_Silent_p.T79T|RCC1_uc001bqe.2_Silent_p.T96T|RCC1_uc001bqf.2_Silent_p.T110T|RCC1_uc001bqg.2_Silent_p.T79T NM_001269 NP_001260 P18754 RCC1_HUMAN Homo sapiens regulator of chromosome condensation 1 (RCC1), transcript variant 3, mRNA. 79 G1/S transition of mitotic cell cycle|cell division|chromosome segregation|mitosis|mitotic spindle organization|regulation of S phase of mitotic cell cycle|regulation of mitosis|spindle assembly|viral reproduction condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm Ran guanyl-nucleotide exchange factor activity|histone binding|nucleosomal DNA binding breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649) GCATGCACACCGTGTGTCTAA 0.612000 28 29 0 0 0.000692331 0 0 BRAF 673 broad.mit.edu 37 7 140501337 140501337 + Missense_Mutation SNP T G G TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:140501337T>G uc003vwc.4 - 5 796 c.735A>C c.(733-735)ttA>ttC p.L245F NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 245 L -> F (in CFC syndrome). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) CACAAAATGCTAAGGTGAAAA 0.373000 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 17 17 0 0 0.000566183 0 0 SLC12A5 57468 broad.mit.edu 37 20 44678350 44678350 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr20:44678350G>A uc010zxl.1 + 16 2247 c.2171G>A c.(2170-2172)gGg>gAg p.G724E SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Missense_Mutation_p.G701E NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA. 724 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CTGAAGGCGGGGAAGGGCCTG 0.617000 14 10 0 0 0.000673444 0 0 DSC3 1825 broad.mit.edu 37 18 28584309 28584309 + Nonsense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr18:28584309G>A uc002kwj.4 - 12 2067 c.1912C>T c.(1912-1914)Cag>Tag p.Q638* DSC3_uc002kwi.4_Nonsense_Mutation_p.Q638* NM_001941 NP_001932 Q14574 DSC3_HUMAN Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA. 638 Cadherin 5. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) GCATTTTTCTGATATGAAAGA 0.338000 53 45 0 0 0.00285205 0 0 INADL 10207 broad.mit.edu 37 1 62579761 62579761 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:62579761G>A uc001dab.3 + 34 4612 c.4498G>A c.(4498-4500)Gaa>Aaa p.E1500K INADL_uc009waf.1_Missense_Mutation_p.E1530K|INADL_uc001daa.2_Missense_Mutation_p.E1472K|INADL_uc001dad.3_Missense_Mutation_p.E1197K|INADL_uc001dac.3_Non-coding_Transcript|INADL_uc010oot.2_Missense_Mutation_p.E314K|INADL_uc009wag.3_Missense_Mutation_p.E284K|INADL_uc010oou.1_Missense_Mutation_p.E145K NM_176877 NP_795352 Q8NI35 INADL_HUMAN Homo sapiens InaD-like (Drosophila) (INADL), mRNA. 1500 PDZ 8. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 CAGCCACGAAGAAGCCATCAC 0.567000 12 11 0 0 0.000978159 0 0 GPR98 84059 broad.mit.edu 37 5 89924546 89924546 + Missense_Mutation SNP T C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr5:89924546T>C uc003kju.3 + 7 1502 c.1406T>C c.(1405-1407)cTt>cCt p.L469P GPR98_uc003kjt.3_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 469 Calx-beta 4. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding p.L469F(1) NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ACAATTCCTCTTACTGTGGTT 0.483000 88 31 0 0 0.00058488 0 0 PREX2 80243 broad.mit.edu 37 8 68981287 68981287 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:68981287C>T uc003xxv.1 + 11 1386 c.1359C>T c.(1357-1359)ttC>ttT p.F453F PREX2_uc003xxu.1_Silent_p.F453F|PREX2_uc011lez.1_Silent_p.F388F NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 453 DEP 1. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 AACATCAATTCAAACCAGAAC 0.313000 39 19 0 0 0.000958276 0 0 TSHZ3 57616 broad.mit.edu 37 19 31767497 31767497 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:31767497G>A uc002nsy.4 - 1 3267 c.3202C>T c.(3202-3204)Ccg>Tcg p.P1068S NM_020856 NP_065907 Q63HK5 TSH3_HUMAN Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA. 1068 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) TGGTCTTCCGGAGATTTCCCG 0.468000 54 28 0 0 0.00106085 0 0 SEC24A 10802 broad.mit.edu 37 5 134050782 134050782 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr5:134050782C>T uc003kzs.3 + 18 3088 c.2796C>T c.(2794-2796)aaC>aaT p.N932N SEC24A_uc011cxu.2_Silent_p.N696N NM_021982 NP_068817 O95486 SC24A_HUMAN Homo sapiens SEC24 family, member A (S. cerevisiae) (SEC24A), transcript variant 1, mRNA. 932 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm zinc ion binding NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AAGTGAAAAACCAGCCCTTGG 0.408000 62 14 0 0 0.00244969 0 0 UPF1 5976 broad.mit.edu 37 19 18943081 18943081 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:18943081C>T uc002nkg.3 + 0 338 c.63C>T c.(61-63)gcC>gcT p.A21A UPF1_uc002nkf.3_Silent_p.A21A NM_002911 NP_002902 Q92900 RENT1_HUMAN Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA. 21 Sufficient for interaction with RENT2. DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 CGGAGGAGGCCGAGCTGCTTG 0.701000 27 26 0 0 0.00178596 0 0 abParts 0 broad.mit.edu 37 2 90259991 90259991 + RNA SNP T C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:90259991T>C uc010yts.2 + 40 c.5259T>C Parts of antibodies, mostly variable regions. GTCTCCATCCTTACTCTCTGC 0.428000 52 17 0 0 0.000958276 0 0 PRKCD 5580 broad.mit.edu 37 3 53219703 53219703 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr3:53219703G>A uc003dgl.3 + 10 1325 c.972G>A c.(970-972)ggG>ggA p.G324G PRKCD_uc003dgm.3_Silent_p.G324G|PRKCD_uc010hmt.1_Silent_p.G96G NM_006254 NP_997704 Q05655 KPCD_HUMAN Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA. 324 activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of MAP kinase activity|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) GAGTTGCTGGGGAGGACATGC 0.552000 14 64 0 0 0.000781405 0 0 MARCH6 10299 broad.mit.edu 37 5 10405676 10405676 + Nonsense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr5:10405676C>T uc003jet.1 + 15 1522 c.1339C>T c.(1339-1341)Cga>Tga p.R447* MARCH6_uc011cmu.1_Nonsense_Mutation_p.R399*|MARCH6_uc003jeu.1_Nonsense_Mutation_p.R145*|MARCH6_uc011cmv.1_Nonsense_Mutation_p.R342* NM_005885 NP_005876 O60337 MARH6_HUMAN Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA. 447 protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3) 54 GCAGGTACTTCGACCTGGTGT 0.328000 51 10 0 0 0.00136819 0 0 KCNS3 3790 broad.mit.edu 37 2 18112978 18112978 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:18112978G>A uc021veh.1 + 0 703 c.703G>A c.(703-705)Ggg>Agg p.G235R KCNS3_uc002rcv.3_Missense_Mutation_p.G235R|KCNS3_uc002rcw.3_Missense_Mutation_p.G235R NM_002252 NP_002243 Q9BQ31 KCNS3_HUMAN Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA. 235 energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity p.G235A(1) endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CTGGTTCACCGGGGAGCTTGC 0.517000 36 40 0 0 0.0025221 0 0 OR2Z1 284383 broad.mit.edu 37 19 8841397 8841397 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:8841397G>A uc010xkg.2 + 0 7 c.7G>A c.(7-9)Gat>Aat p.D3N NM_001004699 NP_001004699 Q8NG97 OR2Z1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA. 3 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 AAACATGGGGGATGTGAATCA 0.498000 21 16 0 0 0.000566183 0 0 SPDYE7P 441251 broad.mit.edu 37 7 72338392 72338392 + RNA SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:72338392G>A uc010lal.1 - 0 c.1264C>T Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA. GCCTCCCGGGGGGAAGTCTCA 0.577000 29 28 0 0 0.000720815 0 0 VHDJH 0 broad.mit.edu 37 16 32077597 32077597 + RNA SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr16:32077597C>T uc010vfu.2 + 0 c.28C>T Homo sapiens mRNA for immunoglobulin heavy chain, VHDJH rearrangement : VHLI26. TTCACCATCTCCAGGGACAAC 0.512000 300 105 0 0 0.000781405 0 0 ANAPC1 64682 broad.mit.edu 37 2 112630288 112630288 + Splice_Site SNP A G G TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:112630288A>G uc002thi.3 - 6 776 c.529_splice c.e6-1 p.V177_splice NM_022662 NP_073153 Q9H1A4 APC1_HUMAN Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA. 177 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 AACATTTGCAACCTTTCAGGT 0.353000 14 12 0 0 0.00244969 0 0 RAPGEF5 9771 broad.mit.edu 37 7 22190123 22190123 + Splice_Site SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:22190123C>T uc003svg.3 - 18 1641 c.1328_splice c.e18-1 p.E443_splice RAPGEF5_uc011jyl.1_Splice_Site_p.E124_splice NM_012294 NP_036426 Q92565 RPGF5_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA. 293 Ras-GEF. nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1) 6 TCATGCTTTTCTTTATTTGAA 0.378000 115 15 0 0 0.00111076 0 0 ZNF560 147741 broad.mit.edu 37 19 9579859 9579859 + Nonsense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:9579859C>T uc002mlp.1 - 8 744 c.534G>A c.(532-534)tgG>tgA p.W178* ZNF560_uc010dwr.1_Nonsense_Mutation_p.W72* NM_152476 NP_689689 Q96MR9 ZN560_HUMAN Homo sapiens zinc finger protein 560 (ZNF560), mRNA. 178 KRAB 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 GGCACATTTTCCATTCTGAAA 0.289000 7 4 0 0 0.000602214 0 0 NPHP1 4867 broad.mit.edu 37 2 110922710 110922710 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:110922710C>T uc002tfn.4 - 6 741 c.647G>A c.(646-648)gGc>gAc p.G216D NPHP1_uc002tfm.4_Missense_Mutation_p.G216D|NPHP1_uc002tfl.4_Missense_Mutation_p.G216D|NPHP1_uc002tfo.4_Missense_Mutation_p.G154D|NPHP1_uc010ywx.2_Missense_Mutation_p.G216D|NPHP1_uc010fjv.1_Missense_Mutation_p.G216D NM_207181 NP_997064 O15259 NPHP1_HUMAN Homo sapiens nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2, mRNA. 216 Glu-rich. actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium protein binding|structural molecule activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2) 24 TGACTCTTGGCCTTCTTCTTC 0.398000 43 33 0 0 0.00283554 0 0 EEF1D 1936 broad.mit.edu 37 8 144672147 144672147 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:144672147C>T uc003yyq.2 - 0 484 c.255G>A c.(253-255)gcG>gcA p.A85A EEF1D_uc003yyp.2_Silent_p.A35A|EEF1D_uc011lki.2_Intron|EEF1D_uc003yyv.3_Intron|EEF1D_uc003yyu.3_Intron|EEF1D_uc011lkk.2_Intron|EEF1D_uc003yyt.3_Silent_p.A35A|EEF1D_uc003yyr.3_Silent_p.A35A|EEF1D_uc003yys.3_Intron|EEF1D_uc011lkl.2_Intron NM_032378 NP_115754 P29692 EF1D_HUMAN Homo sapiens eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) (EEF1D), transcript variant 1, mRNA. 33 positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|eukaryotic translation elongation factor 1 complex protein binding|signal transducer activity|translation elongation factor activity breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) CGGAGGCGGCCGCCTGTGTGG 0.692000 48 7 0 0 0.00198382 0 0 WDR44 54521 broad.mit.edu 37 X 117526679 117526679 + Missense_Mutation SNP G T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chrX:117526679G>T uc004eqn.3 + 3 702 c.271G>T c.(271-273)Gat>Tat p.D91Y WDR44_uc004eqo.3_Missense_Mutation_p.D91Y|WDR44_uc011mtr.2_Missense_Mutation_p.D66Y|WDR44_uc010nqi.3_5'UTR NM_019045 NP_061918 Q5JSH3 WDR44_HUMAN Homo sapiens WD repeat domain 44 (WDR44), transcript variant 1, mRNA. 91 Binding activity. Golgi apparatus|cytosol|endosome membrane|perinuclear region of cytoplasm breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 33 AGAACTCTCTGATCAAGCTAC 0.408000 9 69 1.05635e-38 4.33278e-38 0.000781405 1 0 ECSIT 51295 broad.mit.edu 37 19 11625030 11625030 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:11625030G>A uc002msb.3 - 2 237 c.103C>T c.(103-105)Cgc>Tgc p.R35C ECSIT_uc010dyc.2_Missense_Mutation_p.R35C|ECSIT_uc010dyd.3_Missense_Mutation_p.R35C|ECSIT_uc010xma.2_Intron NM_016581 NP_057665 Q9BQ95 ECSIT_HUMAN Homo sapiens ECSIT homolog (Drosophila) (ECSIT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 35 innate immune response|regulation of oxidoreductase activity mitochondrion oxidoreductase activity, acting on NADH or NADPH|protein binding kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 GGGAGCCGGCGAGGGACCTGG 0.677000 23 21 0 0 0.00188189 0 0 WDFY3 23001 broad.mit.edu 37 4 85611675 85611675 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr4:85611675G>A uc003hpd.3 - 60 9755 c.9347C>T c.(9346-9348)aCc>aTc p.T3116I NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA. 3116 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GAGGGTGACGGTCTTGGCCTT 0.502000 69 44 0 0 0.000781405 0 0 RXFP1 59350 broad.mit.edu 37 4 159560473 159560473 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr4:159560473C>T uc003ipz.3 + 13 1368 c.1105C>T c.(1105-1107)Ctc>Ttc p.L369F RXFP1_uc010iqj.2_Missense_Mutation_p.L198F|RXFP1_uc010iqk.3_Missense_Mutation_p.L237F|RXFP1_uc011cja.2_Missense_Mutation_p.L264F|RXFP1_uc010iqo.3_Missense_Mutation_p.L321F|RXFP1_uc011cjb.2_Missense_Mutation_p.L267F|RXFP1_uc011cjc.2_Missense_Mutation_p.L288F|RXFP1_uc011cjd.2_Missense_Mutation_p.L288F|RXFP1_uc010iql.3_Missense_Mutation_p.L213F|RXFP1_uc011cje.2_Missense_Mutation_p.L396F|RXFP1_uc010iqm.3_Missense_Mutation_p.L336F|RXFP1_uc011cjf.2_Missense_Mutation_p.L238F|RXFP1_uc010iqn.3_Missense_Mutation_p.L314F NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA. 369 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) TCTTATGAATCTCTCTCACAT 0.274000 46 23 0 0 0.00278032 0 0 DBH 1621 broad.mit.edu 37 9 136523475 136523475 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr9:136523475C>T uc004cel.3 + 11 1769 c.1760C>T c.(1759-1761)tCc>tTc p.S587F NM_000787 NP_000778 P09172 DOPO_HUMAN Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA. 587 hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane L-ascorbic acid binding|dopamine beta-monooxygenase activity central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) AAGGTCATCTCCACACTGGAA 0.657000 54 15 0 0 0.000422831 0 0 ARID3B 10620 broad.mit.edu 37 15 74865202 74865202 + Splice_Site SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr15:74865202G>A uc002aye.3 + 3 754 c.553_splice c.e3-1 p.N185_splice ARID3B_uc002ayc.3_Splice_Site_p.N185_splice|ARID3B_uc002ayd.3_Splice_Site_p.N185_splice NM_006465 NP_006456 Q8IVW6 ARI3B_HUMAN Homo sapiens AT rich interactive domain 3B (BRIGHT-like) (ARID3B), mRNA. 185 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 TTCCCTTTTAGAATGGTGGTT 0.458000 33 7 0 0 0.000157383 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140182967 140182967 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr5:140182967G>A uc003lhf.2 + 0 2185 c.2185G>A c.(2185-2187)Gaa>Aaa p.E729K PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.E729K NM_018906 NP_061729 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA. 737 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCGCCAACCGAAGGCGACTG 0.632000 108 32 0 0 0.000692331 0 0 TTN 7273 broad.mit.edu 37 2 179425001 179425001 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:179425001C>T uc021vsy.1 - 274 78379 c.78154G>A c.(78154-78156)Gaa>Aaa p.E26052K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E19747K|TTN_uc021vta.1_Missense_Mutation_p.E19680K|TTN_uc021vtb.1_Missense_Mutation_p.E19555K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 26979 Ig-like 126. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TATTCATATTCACATCCTTCC 0.408000 40 18 0 0 0.00074312 0 0 FERMT1 55612 broad.mit.edu 37 20 6088236 6088236 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr20:6088236C>T uc002wmr.3 - 5 1581 c.792G>A c.(790-792)gaG>gaA p.E264E FERMT1_uc010gbt.3_Silent_p.E7E|FERMT1_uc002wms.3_Silent_p.E264E|FERMT1_uc002wmt.3_Silent_p.E7E NM_017671 NP_060141 Q9BQL6 FERM1_HUMAN Homo sapiens fermitin family member 1 (FERMT1), mRNA. 264 FERM. cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation cytosol|focal adhesion|ruffle membrane binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 17 GCTGCTCATCCTCTTGGATGC 0.353000 36 25 0 0 0.001512 0 0 MARCO 8685 broad.mit.edu 37 2 119750702 119750702 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:119750702G>A uc002tln.1 + 15 1387 c.1255G>A c.(1255-1257)Gaa>Aaa p.E419K MARCO_uc010yyf.1_Missense_Mutation_p.E341K NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA. 419 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 TCACCCAGGTGAAAACTCAGT 0.517000 34 20 0 0 0.00152264 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19409540 19409540 + RNA SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr13:19409540C>T uc010tcj.1 - 0 c.36570G>A Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. CTTTCTGTCTCTCATATTGAA 0.299000 27 28 0 0 0.00106085 0 0 TMPRSS11B 132724 broad.mit.edu 37 4 69097044 69097044 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr4:69097044C>T uc003hdw.4 - 6 699 c.563G>A c.(562-564)gGa>gAa p.G188E NM_182502 NP_872308 Q86T26 TM11B_HUMAN Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA. 188 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity p.G188G(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1) 27 GGAGCTTTTTCCATTCACAAT 0.483000 71 41 0 0 0.0025221 0 0 NYNRIN 57523 broad.mit.edu 37 14 24884150 24884151 + Missense_Mutation DNP GG AA AA TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr14:24884150_24884151GG>AA uc001wpf.4 + 8 3513_3514 c.3195_3196GG>AA c.(3193-3198)ctgggc>ctAAgc p.G1066S NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA. 1066 DNA integration integral to membrane DNA binding p.L1065L(2) breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 CTCCCTACCTGGGCATCCCCTG 0.639000 26 17 0 0 6.4e-05 0 0 SEL1L3 23231 broad.mit.edu 37 4 25806174 25806174 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr4:25806174C>T uc003gru.4 - 9 1917 c.1765G>A c.(1765-1767)Gat>Aat p.D589N SEL1L3_uc003grv.3_5'UTR NM_015187 NP_056002 Q68CR1 SE1L3_HUMAN Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA. 589 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 TGCAGCTGATCCCGAGGAACA 0.448000 16 8 0 0 0.000157383 0 0 RP1 6101 broad.mit.edu 37 8 55540643 55540643 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:55540643C>T uc003xsd.1 + 3 4349 c.4201C>T c.(4201-4203)Ctt>Ttt p.L1401F RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 1401 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CTCCTGTGGCCTTTGCCTAAG 0.318000 92 29 0 0 0.00209593 0 0 GPATCH8 23131 broad.mit.edu 37 17 42475476 42475476 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr17:42475476G>A uc002igw.2 - 7 4188 c.3969C>T c.(3967-3969)ctC>ctT p.L1323L GPATCH8_uc002igv.2_Silent_p.L1245L|GPATCH8_uc010wiz.2_Silent_p.L1245L NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA. 1323 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) CAGCCTGCTGGAGCTTGCTGT 0.597000 24 29 0 0 0.000878237 0 0 TLN2 83660 broad.mit.edu 37 15 63047816 63047816 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr15:63047816C>T uc002alb.4 + 33 4562 c.4562C>T c.(4561-4563)cCa>cTa p.P1521L TLN2_uc002alc.4_5'UTR|TLN2_uc002ald.3_5'Flank NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN Homo sapiens talin 2 (TLN2), mRNA. 1521 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 ACGGCCAACCCAGTAGCCAAG 0.577000 18 19 0 0 0.000958276 0 0 RECQL5 9400 broad.mit.edu 37 17 73654435 73654435 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr17:73654435G>A uc010dgl.3 - 6 1301 c.1092C>T c.(1090-1092)tcC>tcT p.S364S RECQL5_uc010dgk.3_Silent_p.S337S|RECQL5_uc002joz.4_Silent_p.S364S|RECQL5_uc002jpa.4_Silent_p.S364S|RECQL5_uc002jpb.2_Silent_p.S364S NM_004259 NP_004250 O94762 RECQ5_HUMAN Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA. 364 Helicase C-terminal. DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 36 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) GGTCATTCCTGGAGTAATAGA 0.547000 Other identified genes with known or suspected DNA repair function 127 96 0 0 0.000781405 0 0 ANKRD55 79722 broad.mit.edu 37 5 55422854 55422854 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr5:55422854C>T uc003jqu.3 - 7 844 c.692G>A c.(691-693)gGg>gAg p.G231E NM_024669 NP_078945 Q3KP44 ANR55_HUMAN Homo sapiens ankyrin repeat domain 55 (ANKRD55), mRNA. 230 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1) 34 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) ACATGTCTTCCCACTCTCATC 0.488000 62 86 0 0 0.000781405 0 0 IFNAR1 3454 broad.mit.edu 37 21 34715885 34715885 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr21:34715885C>T uc002yrn.3 + 4 723 c.576C>T c.(574-576)ctC>ctT p.L192L IFNAR1_uc011adv.2_Silent_p.L123L NM_000629 NP_000620 P17181 INAR1_HUMAN Homo sapiens interferon (alpha, beta and omega) receptor 1 (IFNAR1), mRNA. 192 Fibronectin type-III 1. JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway integral to plasma membrane type I interferon receptor activity breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2) 14 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) TTTATAAACTCTCACCAGAGA 0.294000 47 33 0 0 0.00178596 0 0 JRK 8629 broad.mit.edu 37 8 143745833 143745833 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:143745833G>A uc003ywp.3 - 2 2157 c.1643C>T c.(1642-1644)cCt>cTt p.P548L JRK_uc003ywo.3_Intron|JRK_uc022bcb.1_Intron|JRK_uc022bcc.1_Non-coding_Transcript NM_003724 NP_003715 Homo sapiens jerky homolog (mouse) (JRK), transcript variant 1, mRNA. all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;2.31e-05) ACAGCCACCAGGGCCCTCCTG 0.677000 51 8 0 0 0.000442599 0 0 ADH1B 125 broad.mit.edu 37 4 100237457 100237457 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr4:100237457C>T uc003hus.4 - 3 346 c.262G>A c.(262-264)Gat>Aat p.D88N ADH1B_uc003hut.4_Missense_Mutation_p.D48N|ADH1B_uc011ceh.2_5'UTR|ADH1B_uc011cei.1_Missense_Mutation_p.D48N NM_000668 NP_000659 P00325 ADH1B_HUMAN Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA. 88 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding p.G87S(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) ATGACTTTATCACCTGGAGAG 0.368000 27 25 0 0 0.000586117 0 0 PDILT 204474 broad.mit.edu 37 16 20373858 20373858 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr16:20373858C>T uc002dhc.1 - 9 1507 c.1284G>A c.(1282-1284)gaG>gaA p.E428E NM_174924 NP_777584 Q8N807 PDILT_HUMAN Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA. 428 Thioredoxin. cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 TGCCCAATTCCTCCAACAGTG 0.463000 19 33 0 0 0.000814825 0 0 SLC13A2 9058 broad.mit.edu 37 17 26822813 26822813 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr17:26822813C>T uc010wan.2 + 9 1663 c.1596C>T c.(1594-1596)ttC>ttT p.F532F SLC13A2_uc010wam.2_Silent_p.F439F|SLC13A2_uc002hbh.3_Silent_p.F483F|SLC13A2_uc010wao.2_Silent_p.F440F|SLC13A2_uc002hbi.3_Silent_p.F412F NM_001145975 NP_001139447 Q13183 S13A2_HUMAN Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA. 483 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) CTACGATCTTCCTGCCCATCC 0.632000 59 14 0 0 0.000422831 0 0 TRAK2 66008 broad.mit.edu 37 2 202254172 202254172 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:202254172G>A uc002uyb.4 - 11 1694 c.1248C>T c.(1246-1248)ggC>ggT p.G416G NM_015049 NP_055864 O60296 TRAK2_HUMAN Homo sapiens trafficking protein, kinesin binding 2 (TRAK2), mRNA. 416 Interaction with HGS (By similarity). Missing (in Ref. 2). early endosome|plasma membrane GABA receptor binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 23 AGATAGAGCGGCCCCGTGTGT 0.473000 29 8 0 0 0.000442599 0 0 BBS1 582 broad.mit.edu 37 11 66299150 66299150 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr11:66299150C>T uc001oii.1 + 15 1821 c.1743C>T c.(1741-1743)ctC>ctT p.L581L BBS1_uc001oil.1_Silent_p.L415L|BBS1_uc010rpg.1_Silent_p.L447L|BBS1_uc001oij.1_Silent_p.L544L|BBS1_uc001oik.1_Silent_p.L468L|ZDHHC24_uc009yrg.2_Intron|BBS1_uc010rph.1_Silent_p.L212L NM_024649 NP_078925 Q8NFJ9 BBS1_HUMAN Homo sapiens Bardet-Biedl syndrome 1 (BBS1), mRNA. 544 nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis BBSome|cilium membrane|cytoplasm protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 28 TGCCAGGGCTCAACTACCCCC 0.547000 Bardet-Biedl syndrome 56 42 0 0 0.000781405 0 0 CHGB 1114 broad.mit.edu 37 20 5904156 5904156 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr20:5904156G>A uc002wmg.3 + 3 1672 c.1366G>A c.(1366-1368)Gca>Aca p.A456T CHGB_uc010zqz.2_Missense_Mutation_p.A139T NM_001819 NP_001810 P05060 SCG1_HUMAN Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA. 456 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 GATGGACAAGGCAAGGAGGCA 0.542000 113 17 0 0 0.00074312 0 0 TTN 7273 broad.mit.edu 37 2 179486283 179486283 + Nonsense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:179486283G>A uc021vsy.1 - 193 37789 c.37564C>T c.(37564-37566)Cag>Tag p.Q12522* MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.Q6217*|TTN_uc021vta.1_Nonsense_Mutation_p.Q6150*|TTN_uc021vtb.1_Nonsense_Mutation_p.Q6025* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 13449 Ig-like 83. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGAGCGTTCTGAATGACCAGG 0.453000 35 12 0 0 0.00136819 0 0 GADD45G 10912 broad.mit.edu 37 9 92220903 92220903 + Missense_Mutation SNP G C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr9:92220903G>C uc004aqq.3 + 3 499 c.389G>C c.(388-390)tGg>tCg p.W130S NM_006705 NP_006696 O95257 GA45G_HUMAN Homo sapiens growth arrest and DNA-damage-inducible, gamma (GADD45G), mRNA. 130 DNA repair|activation of MAPKKK activity|apoptosis|cell differentiation|multicellular organismal development protein binding lung(2) 2 GAGGACGCCTGGAAGGATCCC 0.682000 21 4 0 0 0.000602214 0 0 ATP6V1G3 127124 broad.mit.edu 37 1 198492686 198492686 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:198492686G>A uc009wzd.3 - 3 245 c.210C>T c.(208-210)ggC>ggT p.G70G ATP6V1G3_uc001gup.3_Silent_p.G64G|ATP6V1G3_uc001guo.3_3'UTR NM_133262 NP_573569 Q96LB4 VATG3_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3 (ATP6V1G3), transcript variant 1, mRNA. 64 cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex ATPase binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1) 7 TATTCTGAGAGCCCATTATCT 0.333000 3 43 0 0 0.000781405 0 0 BTBD9 114781 broad.mit.edu 37 6 38312841 38312841 + Missense_Mutation SNP T C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr6:38312841T>C uc003ooa.4 - 7 1759 c.1183A>G c.(1183-1185)Aca>Gca p.T395A BTBD9_uc010jwv.3_Missense_Mutation_p.T365A|BTBD9_uc003ony.4_Missense_Mutation_p.T327A|BTBD9_uc010jww.3_Non-coding_Transcript|BTBD9_uc010jwx.3_Missense_Mutation_p.T395A NM_052893 NP_689946 Q96Q07 BTBD9_HUMAN Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA. 395 cell adhesion breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 12 TTGTTCACTGTGTTGTGAGTC 0.368000 126 19 0 0 0.00188189 0 0 RALGPS1 9649 broad.mit.edu 37 9 129958901 129958901 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr9:129958901C>T uc004bqo.2 + 12 1453 c.1186C>T c.(1186-1188)Ctc>Ttc p.L396F RALGPS1_uc011mac.2_Intron|RALGPS1_uc004bqq.4_Intron NM_014636 NP_055451 Q5JS13 RGPS1_HUMAN Homo sapiens Ral GEF with PH domain and SH3 binding motif 1 (RALGPS1), transcript variant 1, mRNA. 396 small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 CACCAATGGACTCTCCCTAGG 0.612000 65 62 0 0 0.000781405 0 0 ETV3L 440695 broad.mit.edu 37 1 157062654 157062654 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:157062654C>T uc001fqq.2 - 4 1158 c.873G>A c.(871-873)ggG>ggA p.G291G NM_001004341 NP_001004341 Q6ZN32 ETV3L_HUMAN Homo sapiens ets variant 3-like (ETV3L), mRNA. 291 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Hepatocellular(266;0.158) Prostate(1639;0.184) CCTGTCCCAGCCCTGCCAAGA 0.632000 35 11 0 0 0.00185496 0 0 COL22A1 169044 broad.mit.edu 37 8 139668175 139668175 + Missense_Mutation SNP G C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:139668175G>C uc003yvd.3 - 44 3745 c.3298C>G c.(3298-3300)Cta>Gta p.L1100V COL22A1_uc011ljo.2_Missense_Mutation_p.L380V NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 1100 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity p.S1099L(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GGAGACAGTAGTGAAGAGAGG 0.383000 HNSCC(7;0.00092) 394 44 0 0 0.00285205 0 0 ZNF670 93474 broad.mit.edu 37 1 247201092 247201092 + Nonsense_Mutation SNP C A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:247201092C>A uc001icd.2 - 3 1046 c.829G>T c.(829-831)Gga>Tga p.G277* ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF670_uc021plz.1_Nonsense_Mutation_p.G276* NM_033213 NP_149990 Q9BS34 ZN670_HUMAN Homo sapiens zinc finger protein 670 (ZNF670), transcript variant 1, mRNA. 277 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 17 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00427) GGTTTTTCTCCAGTATGCGTT 0.418000 147 6 0.00116845 0.00467958 0.00116845 1 0 DUOX2 50506 broad.mit.edu 37 15 45391942 45391942 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr15:45391942C>T uc001zun.3 - 24 3536 c.3333G>A c.(3331-3333)gaG>gaA p.E1111E DUOX2_uc010bea.3_Silent_p.E1111E NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN Homo sapiens dual oxidase 2 (DUOX2), mRNA. 1111 Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) TGAGGAAAGTCTCTCGCAGGA 0.567000 51 15 0 0 0.000308642 0 0 WBP11P1 441818 broad.mit.edu 37 18 30093509 30093509 + RNA SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr18:30093509C>T uc010dmc.3 + 0 c.1884C>T Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA. GCCACAGCAACCGTCACTGCC 0.493000 128 92 0 0 0.000781405 0 0 OR10J3 441911 broad.mit.edu 37 1 159284433 159284433 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:159284433G>A uc010piu.2 - 0 17 c.17C>T c.(16-18)tCc>tTc p.S6F NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA. 6 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) CACAAAAGTGGAATTTAGCTT 0.433000 227 103 0 0 0.000781405 0 0 IFT140 9742 broad.mit.edu 37 16 1630847 1630848 + Missense_Mutation DNP GG AA AA TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr16:1630847_1630848GG>AA uc002cmb.3 - 12 1798_1799 c.1436_1437CC>TT c.(1435-1437)acc>aTT p.T479I IFT140_uc002clz.3_Missense_Mutation_p.T130I NM_014714 NP_055529 Q96RY7 IF140_HUMAN Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA. 479 breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1) 53 Hepatocellular(780;0.219) CACACAAGAAGGTCCCTAAAAT 0.495000 19 9 0 0 6.4e-05 0 0 CTSL2 1515 broad.mit.edu 37 9 99798970 99798970 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr9:99798970G>A uc010msi.3 - 4 663 c.456C>T c.(454-456)ttC>ttT p.F152F CTSL2_uc004awt.3_Silent_p.F152F|CTSL2_uc004awu.3_Silent_p.F97F|CTSL2_uc010msj.2_Silent_p.F97F|CTSL2_uc010msk.3_Silent_p.F97F NM_001201575 NP_001188504 O60911 CATL2_HUMAN Homo sapiens cathepsin L2 (CTSL2), transcript variant 2, mRNA. 152 lysosome cysteine-type endopeptidase activity endometrium(4)|kidney(1)|large_intestine(8)|lung(4)|prostate(1)|skin(1) 19 Acute lymphoblastic leukemia(62;0.0559) CAGTTTTCCGGAACATCTGTC 0.473000 76 98 0 0 0.000781405 0 0 MUCL1 118430 broad.mit.edu 37 12 55248394 55248394 + Silent SNP T C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:55248394T>C uc001sgk.3 + 0 96 c.28T>C c.(28-30)Ttg>Ctg p.L10L NM_058173 NP_477521 Q96DR8 MUCL1_HUMAN Homo sapiens mucin-like 1 (MUCL1), mRNA. 10 extracellular region|membrane breast(1)|kidney(1)|lung(1) 3 CCTGGTACTCTTGGGAGTTTC 0.428000 48 16 0 0 0.000566183 0 0 FASTK 10922 broad.mit.edu 37 7 150775018 150775018 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:150775018G>A uc003wix.1 - 4 1085 c.987C>T c.(985-987)ccC>ccT p.P329P AK296065_uc011kvf.2_5'Flank|FASTK_uc003wiw.1_Silent_p.P90P|FASTK_uc003wiy.1_Silent_p.P188P|FASTK_uc003wiz.1_Silent_p.P302P|FASTK_uc003wja.1_3'UTR NM_006712 NP_006703 Q14296 FASTK_HUMAN Homo sapiens Fas-activated serine/threonine kinase (FASTK), transcript variant 1, mRNA. 329 apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing ATP binding|Fas-activated serine/threonine kinase activity|protein binding lung(4)|stomach(2) 6 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138) GGGCTCTGAAGGGCAGGCACC 0.592000 54 19 0 0 0.00121646 0 0 SCARA5 286133 broad.mit.edu 37 8 27737098 27737098 + Nonsense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:27737098G>A uc003xgj.3 - 7 1950 c.1339C>T c.(1339-1341)Cga>Tga p.R447* SCARA5_uc010luz.3_Nonsense_Mutation_p.R222* NM_173833 NP_776194 Q6ZMJ2 SCAR5_HUMAN Homo sapiens scavenger receptor class A, member 5 (putative) (SCARA5), mRNA. 447 SRCR. cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization integral to plasma membrane ferritin receptor activity|scavenger receptor activity p.R447P(1) central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3) 18 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228) TGCCCGAATCGAGCTGTGCGG 0.617000 88 70 0 0 0.000781405 0 0 FAM135B 51059 broad.mit.edu 37 8 139149490 139149490 + Missense_Mutation SNP A T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:139149490A>T uc003yuy.3 - 18 4086 c.3915T>A c.(3913-3915)ttT>ttA p.F1305L FAM135B_uc003yux.3_Missense_Mutation_p.F1206L|FAM135B_uc003yuz.3_Non-coding_Transcript NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 1305 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CGACGTTTTTAAAATACTGCA 0.428000 HNSCC(54;0.14) 236 23 0 0 0.00047179 0 0 HAPLN1 1404 broad.mit.edu 37 5 82940241 82940241 + Missense_Mutation SNP C T T rs139074313 TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr5:82940241C>T uc003kim.3 - 2 787 c.716G>A c.(715-717)gGa>gAa p.G239E HAPLN1_uc003kin.3_Missense_Mutation_p.G239E NM_001884 NP_001875 P10915 HPLN1_HUMAN Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA. 239 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding p.G239E(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) ATCCCAAAATCCGTAGTTCCT 0.453000 28 63 0 0 0.000781405 0 0 MEI1 150365 broad.mit.edu 37 22 42190482 42190482 + Splice_Site SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr22:42190482G>A uc003baz.1 + 28 3559 c.3534_splice c.e28+1 p.L1178_splice bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc011apd.1_Splice_Site|MEI1_uc003bbb.1_Splice_Site_p.L564_splice|MEI1_uc003bbc.1_Splice_Site_p.L546_splice|MEI1_uc010gym.1_Splice_Site_p.L511_splice|MEI1_uc003bbd.1_Splice_Site_p.L421_splice|MEI1_uc010gyn.1_Splice_Site|MEI1_uc003bbe.1_Splice_Site|MEI1_uc003bbg.2_Splice_Site_p.L192_splice NM_152513 NP_689726 Q5TIA1 MEI1_HUMAN Homo sapiens meiosis inhibitor 1 (MEI1), mRNA. 1178 binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 CATGACCCTGGTAAGTGCAGA 0.498000 115 91 0 0 0.000781405 0 0 MKI67 4288 broad.mit.edu 37 10 129913965 129913965 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr10:129913965G>A uc001lke.3 - 6 902 c.707C>T c.(706-708)cCc>cTc p.P236L MKI67_uc001lkf.3_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron NM_002417 NP_002408 P46013 KI67_HUMAN Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA. 236 cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CTTCCAAAAGGGAGATTCATT 0.333000 8 31 0 0 0.001512 0 0 TRPC7 57113 broad.mit.edu 37 5 135692628 135692628 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr5:135692628C>T uc003lbn.2 - 1 670 c.448G>A c.(448-450)Gac>Aac p.D150N TRPC7_uc010jef.2_Missense_Mutation_p.D141N|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Missense_Mutation_p.D150N|TRPC7_uc010jei.2_Missense_Mutation_p.D150N NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA. 150 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding p.D149D(1) NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GCATAGAAGTCGTCGTCGCGC 0.652000 77 32 0 0 0.00058488 0 0 FARS2 10667 broad.mit.edu 37 6 5368854 5368854 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr6:5368854G>A uc010jnv.1 + 1 387 c.51G>A c.(49-51)gtG>gtA p.V17V FARS2_uc003mwr.2_Silent_p.V17V NM_006567 NP_006558 O95363 SYFM_HUMAN Homo sapiens phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2), nuclear gene encoding mitochondrial protein, mRNA. 17 phenylalanyl-tRNA aminoacylation|tRNA processing mitochondrial matrix|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding p.L16L(1) endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2) 15 Ovarian(93;0.11) all_hematologic(90;0.0104) L-Phenylalanine(DB00120) TCTACCTGGTGAGTAAGGCCA 0.567000 57 63 0 0 0.000781405 0 0 GRIP2 80852 broad.mit.edu 37 3 14535176 14535176 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr3:14535176G>A uc021wtn.1 - 25 3417 c.3417C>T c.(3415-3417)ctC>ctT p.L1139L GRIP2_uc010heh.3_Non-coding_Transcript NM_001080423 NP_001073892 Q9C0E4 GRIP2_HUMAN Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA. 1043 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 GCTGACTTCAGAGCATCCGGG 0.652000 3 14 0 0 0.000422831 0 0 ZNF677 342926 broad.mit.edu 37 19 53740884 53740884 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:53740884C>T uc002qbg.1 - 4 1247 c.1096G>A c.(1096-1098)Gaa>Aaa p.E366K ZNF677_uc002qbf.1_Missense_Mutation_p.E366K NM_182609 NP_872415 Q86XU0 ZN677_HUMAN Homo sapiens zinc finger protein 677 (ZNF677), mRNA. 366 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(134;0.00352) TGAATTCTTTCATGACCCCAA 0.398000 40 15 0 0 0.00244969 0 0 IL22RA1 58985 broad.mit.edu 37 1 24463708 24463708 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:24463708C>T uc001biq.2 - 2 471 c.268G>A c.(268-270)Gag>Aag p.E90K IL22RA1_uc010oeg.1_5'UTR|IL22RA1_uc009vrb.2_5'UTR|IL22RA1_uc010oeh.2_Missense_Mutation_p.E90K NM_021258 NP_067081 Q8N6P7 I22R1_HUMAN Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA. 90 Fibronectin type-III 1. integral to membrane interferon receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148) TAGTAGAGCTCCGTGAGGTTG 0.617000 29 12 0 0 0.00185496 0 0 ZNF554 115196 broad.mit.edu 37 19 2833900 2833900 + Missense_Mutation SNP G T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:2833900G>T uc002lwm.2 + 4 865 c.667G>T c.(667-669)Ggg>Tgg p.G223W ZNF554_uc002lwl.2_Missense_Mutation_p.G172W NM_001102651 NP_001096121 Q86TJ5 ZN554_HUMAN Homo sapiens zinc finger protein 554 (ZNF554), mRNA. 223 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 23 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) GCATGGATTTGGGGAAAATGG 0.512000 88 6 8.12818e-05 0.000325935 0.00198382 1 0 AHNAK2 113146 broad.mit.edu 37 14 105419565 105419565 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr14:105419565C>T uc010axc.1 - 6 2343 c.2223G>A c.(2221-2223)gtG>gtA p.V741V AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.V641V NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 741 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCGGAAGTTTCACATCCACTT 0.627000 39 32 0 0 0.00283554 0 0 TENC1 23371 broad.mit.edu 37 12 53449591 53449591 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:53449591C>T uc001sbp.3 + 9 858 c.723C>T c.(721-723)atC>atT p.I241I LOC283335_uc001sbk.1_5'Flank|TENC1_uc001sbl.3_Silent_p.I117I|TENC1_uc001sbm.3_Silent_p.I281I|TENC1_uc001sbn.3_Silent_p.I251I|TENC1_uc001sbo.1_Silent_p.I241I|TENC1_uc001sbq.3_5'Flank|TENC1_uc001sbr.3_5'Flank NM_170754 NP_938072 Q63HR2 TENC1_HUMAN Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA. 241 Phosphatase tensin-type. intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3) 34 TTGGGGTCATCGTTTCTGCCT 0.597000 52 71 0 0 0.000781405 0 0 NYNRIN 57523 broad.mit.edu 37 14 24877078 24877078 + Missense_Mutation SNP T A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr14:24877078T>A uc001wpf.4 + 2 520 c.202T>A c.(202-204)Tac>Aac p.Y68N NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA. 68 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 TGCCCAGGAATACCTGAAGGG 0.612000 28 8 0 0 0.000274275 0 0 EIF4B 1975 broad.mit.edu 37 12 53421881 53421881 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:53421881C>T uc001sbh.4 + 7 1094 c.888C>T c.(886-888)gaC>gaT p.D296D EIF4B_uc010snu.2_Silent_p.D296D|EIF4B_uc010snv.2_Silent_p.D257D NM_001417 NP_001408 P23588 IF4B_HUMAN Homo sapiens eukaryotic translation initiation factor 4B (EIF4B), mRNA. 296 Arg-rich.|Asp-rich. insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1) 22 GAGGCGGGGACCGCTATGAAG 0.493000 28 40 0 0 0.000953801 0 0 PRKCA 5578 broad.mit.edu 37 17 64800119 64800119 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr17:64800119C>T uc002jfp.1 + 16 2027 c.1983C>T c.(1981-1983)ccC>ccT p.P661P NM_002737 NP_002728 P17252 KPCA_HUMAN Homo sapiens protein kinase C, alpha (PRKCA), mRNA. 661 AGC-kinase C-terminal. activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) ATGTCAACCCCCAGTTTGTGC 0.522000 76 20 0 0 0.00229938 0 0 MBD5 55777 broad.mit.edu 37 2 149227049 149227049 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:149227049G>A uc002twm.4 + 8 2534 c.1537G>A c.(1537-1539)Gat>Aat p.D513N MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_5'Flank NM_018328 NP_060798 Q9P267 MBD5_HUMAN Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA. 513 chromosome|nucleus DNA binding|chromatin binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) TACCAAGTCCGATGGACATCA 0.473000 35 39 0 0 0.00170553 0 0 ABCA13 154664 broad.mit.edu 37 7 48559759 48559759 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:48559759C>T uc003toq.2 + 52 13944 c.13920C>T c.(13918-13920)ttC>ttT p.F4640F ABCA13_uc010kys.1_Silent_p.F1715F|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Silent_p.F370F NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 4640 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CCCACAACTTCGGCATTGATT 0.463000 49 23 0 0 0.00047179 0 0 DUSP26 78986 broad.mit.edu 37 8 33454889 33454889 + Missense_Mutation SNP C T T rs11545082 TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:33454889C>T uc003xjp.3 - 1 478 c.145G>A c.(145-147)Gag>Aag p.E49K DUSP26_uc003xjq.3_Missense_Mutation_p.E49K NM_024025 NP_076930 Q9BV47 DUS26_HUMAN Homo sapiens dual specificity phosphatase 26 (putative) (DUSP26), mRNA. 49 Golgi apparatus|nucleus protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1) 15 KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111) AGGAGCCGCTCCAACTCGAAG 0.582000 41 22 0 0 0.00188189 0 0 NOX5 79400 broad.mit.edu 37 15 69320647 69320647 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr15:69320647C>T uc002ars.2 + 2 308 c.267C>T c.(265-267)ctC>ctT p.L89L MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Silent_p.L71L|NOX5_uc002arp.2_Silent_p.L71L|NOX5_uc010bid.2_Silent_p.L82L|NOX5_uc010bie.2_5'UTR|NOX5_uc002arr.2_Silent_p.L89L NM_024505 NP_078781 Q96PH1 NOX5_HUMAN Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA. 89 EF-hand 2.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner. angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 TGACCCTGCTCATCCATGGCA 0.557000 44 54 0 0 0.000781405 0 0 ITGA4 3676 broad.mit.edu 37 2 182392032 182392032 + Missense_Mutation SNP A G G TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:182392032A>G uc002unu.3 + 21 3111 c.2348A>G c.(2347-2349)aAc>aGc p.N783S ITGA4_uc010frj.1_Missense_Mutation_p.N265S|ITGA4_uc002unv.3_Missense_Mutation_p.N28S NM_000885 NP_000876 P13612 ITA4_HUMAN Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA. 783 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) AGGTTTGTAAACCCAACTTCA 0.299000 26 6 0 0 0.00116845 0 0 ATP13A4 84239 broad.mit.edu 37 3 193153533 193153533 + Splice_Site SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr3:193153533C>T uc003ftd.3 - 24 2781 c.2673_splice c.e24-1 p.K891_splice ATP13A4_uc010hzi.3_Splice_Site NM_032279 NP_115655 Q4VNC1 AT134_HUMAN Homo sapiens ATPase type 13A4 (ATP13A4), mRNA. 891 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) CACGTCCTTCCCTGTGTAAGA 0.398000 10 81 0 0 0.000781405 0 0 DGCR14 8220 broad.mit.edu 37 22 19121829 19121829 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr22:19121829G>A uc002zou.3 - 9 1348 c.1311C>T c.(1309-1311)acC>acT p.T437T NM_022719 NP_073210 Q96DF8 DGC14_HUMAN Homo sapiens DiGeorge syndrome critical region gene 14 (DGCR14), mRNA. 437 nervous system development catalytic step 2 spliceosome breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1) 16 Colorectal(54;0.0993) TGCTTGTGGGGGTCTGCAGCC 0.697000 23 13 0 0 0.00244969 0 0 DNAJC5 80331 broad.mit.edu 37 20 62559804 62559804 + Splice_Site SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr20:62559804C>T uc002yhf.3 + 2 340 c.107_splice c.e2+1 p.R36_splice DNAJC5_uc002yhh.3_Splice_Site NM_025219 NP_079495 Q9H3Z4 DNJC5_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 (DNAJC5), mRNA. 36 J. neurotransmitter secretion|protein folding clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane heat shock protein binding|unfolded protein binding p.R36W(1) cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1) 5 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) AAAGTCCTATCGGTAAGTGGA 0.498000 33 28 0 0 0.001512 0 0 TNRC6B 23112 broad.mit.edu 37 22 40696486 40696486 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr22:40696486C>T uc011aor.2 + 12 3947 c.3736C>T c.(3736-3738)Ccc>Tcc p.P1246S TNRC6B_uc003aym.3_Missense_Mutation_p.P442S|TNRC6B_uc003ayn.4_Missense_Mutation_p.P1136S|TNRC6B_uc003ayo.3_Missense_Mutation_p.P993S NM_001162501 NP_001155973 Q9UPQ9 TNR6B_HUMAN Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA. 1246 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body RNA binding|nucleotide binding breast(1) 1 CAAGCAGTTTCCCAACAGTGG 0.403000 17 13 0 0 0.00244969 0 0 PLEKHG4 25894 broad.mit.edu 37 16 67314157 67314157 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr16:67314157C>T uc010cef.3 + 1 509 c.210C>T c.(208-210)ttC>ttT p.F70F PLEKHG4_uc002eso.4_Silent_p.F70F|PLEKHG4_uc002esp.4_5'UTR|PLEKHG4_uc002esq.4_Silent_p.F70F|PLEKHG4_uc002esr.1_Intron|PLEKHG4_uc002ess.4_Silent_p.F70F|PLEKHG4_uc010ceg.3_Silent_p.F70F NM_001129728 NP_056247 Q58EX7 PKHG4_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4 (PLEKHG4), transcript variant 3, mRNA. 70 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) CCAGGAAATTCCAGTTACCCC 0.617000 14 17 0 0 0.00074312 0 0 ZMYM4 9202 broad.mit.edu 37 1 35881156 35881156 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:35881156C>T uc001byt.3 + 27 4230 c.4150C>T c.(4150-4152)Ctt>Ttt p.L1384F ZMYM4_uc009vuu.3_Missense_Mutation_p.L1352F|ZMYM4_uc001byu.3_Missense_Mutation_p.L1060F|ZMYM4_uc009vuv.3_Missense_Mutation_p.L1123F NM_005095 NP_005086 Q5VZL5 ZMYM4_HUMAN Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA. 1384 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AAACACCCTCCTTTTCTTCAA 0.448000 49 14 0 0 0.000308642 0 0 EIF5 1983 broad.mit.edu 37 14 103805576 103805576 + Missense_Mutation SNP A G G TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr14:103805576A>G uc001ymt.3 + 7 1307 c.812A>G c.(811-813)gAt>gGt p.D271G EIF5_uc001ymq.3_Missense_Mutation_p.D271G|EIF5_uc001ymr.3_Missense_Mutation_p.D271G|EIF5_uc001ymu.3_Missense_Mutation_p.D271G NM_183004 NP_892116 P55010 IF5_HUMAN Homo sapiens eukaryotic translation initiation factor 5 (EIF5), transcript variant 2, mRNA. 271 W2. RNA metabolic process|regulation of translational initiation cytosol GTP binding|GTPase activity|translation initiation factor activity breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1) 18 Melanoma(154;0.155) Epithelial(46;0.182) GAAAGACTGGATGTAAAAGCC 0.378000 47 31 0 0 0.00127121 0 0 UGT3A1 133688 broad.mit.edu 37 5 35991268 35991268 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr5:35991268G>A uc003jjv.2 - 0 268 c.75C>T c.(73-75)atC>atT p.I25I UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Silent_p.I25I|UGT3A1_uc011cor.2_Silent_p.I25I|UGT3A1_uc003jjy.2_Intron NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA. 25 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ATATTGTCAGGATTTTGGCAG 0.592000 44 48 0 0 0.000781405 0 0 SEMA5B 54437 broad.mit.edu 37 3 122632719 122632719 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr3:122632719C>T uc003efz.1 - 14 2422 c.2118G>A c.(2116-2118)aaG>aaA p.K706K SEMA5B_uc011bju.1_Silent_p.K648K|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.K706K|SEMA5B_uc010hro.1_Silent_p.K648K|SEMA5B_uc003efy.1_5'Flank NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA. 706 TSP type-1 1. cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) CCTCCCGGCTCTTGCCCACGC 0.672000 14 67 0 0 0.000781405 0 0 VRTN 55237 broad.mit.edu 37 14 74824974 74824974 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr14:74824974G>A uc021rwl.1 + 0 1488 c.1488G>A c.(1486-1488)gaG>gaA p.E496E VRTN_uc001xpw.4_Silent_p.E496E NM_018228 NP_060698 Q9H8Y1 VRTN_HUMAN Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA. 496 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 CCCCCGGGGAGCTCCTGCCAC 0.652000 23 16 0 0 0.000308642 0 0 CDON 50937 broad.mit.edu 37 11 125864781 125864781 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr11:125864781G>A uc009zbw.3 - 12 2657 c.2529C>T c.(2527-2529)atC>atT p.I843I CDON_uc001qdb.4_Silent_p.I220I|CDON_uc001qdc.4_Silent_p.I843I NM_001243597 NP_001230526 Q4KMG0 CDON_HUMAN Homo sapiens Cdon homolog (mouse) (CDON), transcript variant 1, mRNA. 843 Fibronectin type-III 3. cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) ACTTTAGCATGATCTGAGTAT 0.423000 11 17 0 0 0.000566183 0 0 SLC23A1 9963 broad.mit.edu 37 5 138707828 138707828 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr5:138707828C>T uc003leg.3 - 13 1773 c.1676G>A c.(1675-1677)aGa>aAa p.R559K SLC23A1_uc003leh.3_Missense_Mutation_p.R555K NM_152685 NP_689898 Q9UHI7 S23A1_HUMAN Homo sapiens solute carrier family 23 (nucleobase transporters), member 1 (SLC23A1), transcript variant 2, mRNA. 555 brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction L-ascorbate:sodium symporter activity|dehydroascorbic acid transporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1) 19 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) Vitamin C(DB00126) AAAGGTAATTCTTTTTACTAT 0.428000 90 26 0 0 0.000720815 0 0 CYP1A2 1544 broad.mit.edu 37 15 75042580 75042580 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr15:75042580G>A uc002ayr.1 + 1 565 c.501G>A c.(499-501)aaG>aaA p.K167K NM_000761 NP_000752 P05177 CP1A2_HUMAN Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA. 167 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) ATGTGAGCAAGGAGGCTAAGG 0.612000 45 61 0 0 0.000781405 0 0 MAP7D1 55700 broad.mit.edu 37 1 36643603 36643604 + Missense_Mutation DNP CC TT TT TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:36643603_36643604CC>TT uc001bzz.3 + 8 1725_1726 c.1509_1510CC>TT c.(1507-1512)tccccc>tcTTcc p.P504S MAP7D1_uc001caa.3_Missense_Mutation_p.P472S|MAP7D1_uc001cab.3_Missense_Mutation_p.P467S|MAP7D1_uc001cac.3_Missense_Mutation_p.P204S|MAP7D1_uc001cad.3_Missense_Mutation_p.P50S NM_018067 NP_060537 Q3KQU3 MA7D1_HUMAN Homo sapiens MAP7 domain containing 1 (MAP7D1), mRNA. 504 Pro-rich. cytoplasm|spindle breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 19 Myeloproliferative disorder(586;0.0393) CCACTGCATCCCCCAAGGGGCG 0.693000 14 6 0 0 6.4e-05 0 0 CLSTN2 64084 broad.mit.edu 37 3 140265495 140265495 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr3:140265495C>T uc003etn.3 + 9 1836 c.1646C>T c.(1645-1647)tCc>tTc p.S549F CLSTN2_uc003etm.2_Missense_Mutation_p.S549F NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN Homo sapiens calsyntenin 2 (CLSTN2), mRNA. 549 homophilic cell adhesion Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium ion binding p.S549F(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 GACATTAATTCCTTGGAAAGC 0.552000 HNSCC(16;0.037) 3 36 0 0 0.00128727 0 0 OR10G2 26534 broad.mit.edu 37 14 22102916 22102916 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr14:22102916C>T uc010tmc.2 - 0 83 c.83G>A c.(82-84)aGa>aAa p.R28K NM_001005466 NP_001005466 Q8NGC3 O10G2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA. 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) GAGGAGGCTTCTTAGATTTGG 0.493000 32 31 0 0 0.00209593 0 0 UBR4 23352 broad.mit.edu 37 1 19523652 19523652 + Missense_Mutation SNP A G G TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:19523652A>G uc001bbi.3 - 7 1005 c.1001T>C c.(1000-1002)cTa>cCa p.L334P NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA. 334 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CAGACAACTTAGGCTGAGGAC 0.408000 41 10 0 0 0.000673444 0 0 SMARCC2 6601 broad.mit.edu 37 12 56561944 56561944 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:56561944G>A uc001skb.3 - 24 2763 c.2657C>T c.(2656-2658)tCt>tTt p.S886F SMARCC2_uc001skd.3_Missense_Mutation_p.S917F|SMARCC2_uc001ska.3_Missense_Mutation_p.S917F|SMARCC2_uc001skc.3_Missense_Mutation_p.S916F|SMARCC2_uc010sqf.2_Missense_Mutation_p.S806F NM_003075 NP_003066 Q8TAQ2 SMRC2_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA. 886 chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) GGCCACCAAAGATTTGATCTT 0.517000 34 30 0 0 0.00209593 0 0 AMIGO2 347902 broad.mit.edu 37 12 47471693 47471693 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:47471693C>T uc001rpm.3 - 2 1748 c.1093G>A c.(1093-1095)Gca>Aca p.A365T FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Missense_Mutation_p.A365T|AMIGO2_uc001rpl.3_Missense_Mutation_p.A365T|AMIGO2_uc021qxg.1_Missense_Mutation_p.A365T NM_001143668 NP_862830 Q86SJ2 AMGO2_HUMAN Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA. 365 Ig-like C2-type. heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Renal(347;0.138)|Lung SC(27;0.192) TTATTCATTGCGATACAAGAA 0.408000 69 21 0 0 0.00188189 0 0 NRP1 8829 broad.mit.edu 37 10 33559629 33559629 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr10:33559629G>A uc001iwx.4 - 2 927 c.404C>T c.(403-405)tCc>tTc p.S135F NRP1_uc001iwv.4_Missense_Mutation_p.S135F|NRP1_uc001iwy.4_Missense_Mutation_p.S135F|NRP1_uc009xlz.3_Missense_Mutation_p.S135F|NRP1_uc001iww.4_Intron|NRP1_uc001iwz.2_Missense_Mutation_p.S135F|NRP1_uc001ixa.2_Missense_Mutation_p.S135F|NRP1_uc001ixb.2_Missense_Mutation_p.S135F|NRP1_uc001ixc.1_Missense_Mutation_p.S135F NM_003873 NP_003864 O14786 NRP1_HUMAN Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA. 135 CUB 1. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity p.F134L(1) NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) ATAACGTATGGAAAATCCTGC 0.433000 13 31 0 0 0.000814825 0 0 SLC44A4 80736 broad.mit.edu 37 6 31843638 31843639 + Missense_Mutation DNP CC AA AA TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr6:31843638_31843639CC>AA uc010jti.3 - 3 298_299 c.232_233GG>TT c.(232-234)ggg>TTg p.G78L SLC44A4_uc011dol.2_Missense_Mutation_p.G2L|SLC44A4_uc011dom.2_Missense_Mutation_p.G78L NM_025257 NP_079533 Q53GD3 CTL4_HUMAN Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA. 78 integral to membrane|plasma membrane choline transmembrane transporter activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2) 35 Choline(DB00122) CTTGTTCTCCCCCATGCCACAG 0.604000 681 14 0 0 6.4e-05 0 0 LRRC52 440699 broad.mit.edu 37 1 165513699 165513699 + Silent SNP C A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:165513699C>A uc001gde.2 + 0 222 c.166C>A c.(166-168)Cgg>Agg p.R56R LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.3_Intron NM_001005214 NP_001005214 Q8N7C0 LRC52_HUMAN Homo sapiens leucine rich repeat containing 52 (LRRC52), mRNA. 56 integral to membrane NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1) 18 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) CCTGAACACCCGGAGGCTGTT 0.473000 77 95 6.65942e-36 2.728e-35 0.000781405 1 0 SREK1 140890 broad.mit.edu 37 5 65466563 65466564 + Missense_Mutation DNP CC GT GT TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr5:65466563_65466564CC>GT uc003jun.3 + 8 1392_1393 c.1272_1273CC>GT c.(1270-1275)gaccgg>gaGTgg p.424_425DR>EW SREK1_uc010iwy.3_Missense_Mutation_p.308_309DR>EW|SREK1_uc003juo.3_Missense_Mutation_p.308_309DR>EW NM_001077199 NP_631907 Q8WXA9 SREK1_HUMAN Homo sapiens splicing regulatory glutamine/lysine-rich protein 1 (SREK1), transcript variant 1, mRNA. 308 Arg/Glu/Lys/Ser-rich. RNA splicing|mRNA processing spliceosomal complex nucleic acid binding|nucleotide binding|protein binding breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1) 9 GGGAAAAGGACCGggaaaaaga 0.446000 4 12 0 0 6.4e-05 0 0 CCDC61 729440 broad.mit.edu 37 19 46498700 46498700 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:46498700C>T uc002pdw.3 + 1 98 c.98C>T c.(97-99)tCc>tTc p.S33F CCDC61_uc021uwd.1_5'UTR NM_001080402 NP_001073871 Homo sapiens coiled-coil domain containing 61 (CCDC61), mRNA. endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1) 13 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164) AACGCCGGATCCTGGGGCGGG 0.622000 13 4 0 0 0.00024832 0 0 METTL21B 25895 broad.mit.edu 37 12 58174169 58174169 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:58174169C>T uc001sqg.3 + 2 546 c.421C>T c.(421-423)Cct>Tct p.P141S TSFM_uc021qzq.1_5'Flank|METTL21B_uc001sqf.3_3'UTR|METTL21B_uc009zqd.3_Non-coding_Transcript|TSFM_uc001sqh.3_5'Flank|TSFM_uc001sqi.3_5'Flank|TSFM_uc010ssf.2_5'Flank|TSFM_uc010sse.2_5'Flank NM_015433 NP_056248 Q96AZ1 MT21B_HUMAN Homo sapiens methyltransferase like 21B (METTL21B), transcript variant 1, mRNA. 141 integral to membrane|intracellular methyltransferase activity endometrium(1)|lung(1) 2 TCATGTCTTCCCTGCAAACTA 0.617000 42 21 0 0 0.00229938 0 0 TTN 7273 broad.mit.edu 37 2 179429624 179429624 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:179429624G>A uc021vsy.1 - 274 73756 c.73531C>T c.(73531-73533)Cct>Tct p.P24511S MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P18206S|TTN_uc021vta.1_Missense_Mutation_p.P18139S|TTN_uc021vtb.1_Missense_Mutation_p.P18014S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 25438 Fibronectin type-III 78. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTCACAAAAGGAGTTCCAGGT 0.403000 39 6 0 0 0.00116845 0 0 OR2M2 391194 broad.mit.edu 37 1 248343953 248343953 + Silent SNP T C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:248343953T>C uc010pzf.2 + 0 666 c.666T>C c.(664-666)atT>atC p.I222I NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA. 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CTCGAGTTATTCTGGCTGTCA 0.438000 443 11 0 0 0.00244969 0 0 SEC61A2 55176 broad.mit.edu 37 10 12200002 12200002 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr10:12200002C>T uc001ile.2 + 8 1020 c.873C>T c.(871-873)atC>atT p.I291I SEC61A2_uc010qbq.1_Silent_p.I269I|SEC61A2_uc001ilf.4_Non-coding_Transcript|SEC61A2_uc001ilh.4_Non-coding_Transcript|SEC61A2_uc001ilg.4_Silent_p.I291I NM_018144 NP_060614 Q9H9S3 S61A2_HUMAN Homo sapiens Sec61 alpha 2 subunit (S. cerevisiae) (SEC61A2), transcript variant 1, mRNA. 291 endoplasmic reticulum membrane|integral to membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Renal(717;0.228) ACATCCCCATCATCCTCCAGT 0.483000 85 420 0 0 0.000781405 0 0 OR2L3 391192 broad.mit.edu 37 1 248224303 248224303 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:248224303G>A uc001idx.1 + 0 320 c.320G>A c.(319-321)gGa>gAa p.G107E OR2L13_uc001ids.3_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA. 107 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TCGGCATTAGGAGGTGCAGAA 0.438000 117 133 0 0 0.000781405 0 0 CD93 22918 broad.mit.edu 37 20 23064944 23064944 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr20:23064944G>A uc002wsv.3 - 0 2034 c.1886C>T c.(1885-1887)tCc>tTc p.S629F NM_012072 NP_036204 Q9NPY3 C1QR1_HUMAN Homo sapiens CD93 molecule (CD93), mRNA. 629 cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) TGGAACCCAGGAGTAACTGTC 0.627000 104 100 0 0 0.000781405 0 0 ARPP21 10777 broad.mit.edu 37 3 35770924 35770924 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr3:35770924G>A uc011axy.2 + 12 1465 c.1253G>A c.(1252-1254)gGa>gAa p.G418E ARPP21_uc003cga.3_Missense_Mutation_p.G398E|ARPP21_uc003cgb.3_Missense_Mutation_p.G452E|ARPP21_uc003cgf.3_Missense_Mutation_p.G253E|ARPP21_uc003cgg.3_5'UTR NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA. 452 Ser-rich. cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 CCAGAGAATGGAATAGGGGGC 0.582000 4 43 0 0 0.000680045 0 0 COL6A6 131873 broad.mit.edu 37 3 130308020 130308020 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr3:130308020G>A uc010htl.3 + 10 4243 c.4212G>A c.(4210-4212)ggG>ggA p.G1404G COL6A6_uc003eni.4_5'UTR NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA. 1404 Triple-helical region. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GACCACCAGGGAAAAGGGTGA 0.433000 5 37 0 0 0.00170553 0 0 AARS 16 broad.mit.edu 37 16 70291981 70291981 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr16:70291981G>A uc002eyn.1 - 14 2242 c.2132C>T c.(2131-2133)tCt>tTt p.S711F AARS_uc010vlu.1_Missense_Mutation_p.S541F NM_001605 NP_001596 P49588 SYAC_HUMAN Homo sapiens alanyl-tRNA synthetase (AARS), mRNA. 711 alanyl-tRNA aminoacylation|tRNA processing cytosol|soluble fraction ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0365) BRCA - Breast invasive adenocarcinoma(221;0.161) L-Alanine(DB00160) AGCAGGCCCAGAGGGGTCATC 0.587000 7 6 0 0 0.000157383 0 0 RGS22 26166 broad.mit.edu 37 8 100999713 100999713 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:100999713G>A uc003yjb.1 - 20 3348 c.3153C>T c.(3151-3153)ctC>ctT p.L1051L RGS22_uc003yja.1_Silent_p.L870L|RGS22_uc003yjc.1_Silent_p.L1039L|RGS22_uc022azf.1_Silent_p.L440L NM_015668 NP_056483 Q8NE09 RGS22_HUMAN Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA. 1051 RGS 2. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) CTTGCCAAAAGAGTAAACCAT 0.323000 77 22 0 0 0.00188189 0 0 KIAA1755 85449 broad.mit.edu 37 20 36870025 36870025 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr20:36870025C>T uc002xhy.1 - 2 780 c.508G>A c.(508-510)Gaa>Aaa p.E170K KIAA1755_uc002xhz.1_Missense_Mutation_p.E170K NM_001029864 NP_001025035 Q5JYT7 K1755_HUMAN Homo sapiens KIAA1755 (KIAA1755), mRNA. 170 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) ATCCCATTTTCTGATGCTACC 0.532000 111 54 0 0 0.000781405 0 0 KLHL20 27252 broad.mit.edu 37 1 173703101 173703101 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:173703101C>T uc001gjc.3 + 2 452 c.273C>T c.(271-273)ccC>ccT p.P91P KLHL20_uc010pmr.2_Intron|KLHL20_uc009wwf.3_Silent_p.P73P|KLHL20_uc001gjd.3_Silent_p.P91P NM_014458 NP_055273 Q9Y2M5 KLH20_HUMAN Homo sapiens kelch-like 20 (Drosophila) (KLHL20), mRNA. 91 BTB. cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha Cul3-RING ubiquitin ligase complex|Golgi apparatus|PML body|actin cytoskeleton|cell surface|perinuclear region of cytoplasm actin binding|interferon-gamma binding|ubiquitin-protein ligase activity breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1) 34 CCTGTAGTCCCTACTTCCGAG 0.478000 74 18 0 0 0.000958276 0 0 LRP5 4041 broad.mit.edu 37 11 68153788 68153788 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr11:68153788C>T uc001ont.3 + 5 1095 c.1020C>T c.(1018-1020)gcC>gcT p.A340A LRP5_uc009ysg.3_5'UTR NM_002335 NP_002326 O75197 LRP5_HUMAN Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA. 340 Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CCACAGGAGCCGAGGAGGTGC 0.662000 10 20 0 0 0.000720815 0 0 FAM108A1 81926 broad.mit.edu 37 19 1880087 1880087 + Missense_Mutation SNP A C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:1880087A>C uc002luf.3 - 3 919 c.513T>G c.(511-513)aaT>aaG p.N171K FAM108A1_uc002lud.3_Intron|FAM108A1_uc002lue.3_Missense_Mutation_p.N120K|FAM108A1_uc002lug.3_Missense_Mutation_p.N120K NM_031213 NP_112490 Q96GS6 F18A1_HUMAN Homo sapiens family with sequence similarity 108, member A1 (FAM108A1), transcript variant 1, mRNA. 120 extracellular region hydrolase activity endometrium(2)|kidney(1)|lung(4)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 Ovarian(11;0.000137) 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) GGTCCACGGCATTGCCGTGCG 0.632000 17 10 0 0 0.000978159 0 0 MUC16 94025 broad.mit.edu 37 19 9062981 9062981 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:9062981C>T uc002mkp.3 - 2 24669 c.24465G>A c.(24463-24465)agG>agA p.R8155R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 8157 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGACTTCTGTCCTGGAGACTT 0.542000 49 18 0 0 0.00074312 0 0 TTC7B 145567 broad.mit.edu 37 14 91124667 91124667 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr14:91124667G>A uc001xyp.3 - 9 1339 c.1217C>T c.(1216-1218)tCc>tTc p.S406F TTC7B_uc010ats.3_Non-coding_Transcript NM_001010854 NP_001010854 Q86TV6 TTC7B_HUMAN Homo sapiens tetratricopeptide repeat domain 7B (TTC7B), mRNA. 406 binding NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 36 Melanoma(154;0.222) AGCCATCAGGGACAGAGCAAA 0.448000 36 24 0 0 0.000720815 0 0 FMO1 2326 broad.mit.edu 37 1 171244498 171244498 + Missense_Mutation SNP G T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:171244498G>T uc009wvz.3 + 3 471 c.335G>T c.(334-336)aGt>aTt p.S112I FMO1_uc010pme.2_Missense_Mutation_p.S49I|FMO1_uc001ghl.3_Missense_Mutation_p.S112I|FMO1_uc001ghm.3_Missense_Mutation_p.S112I NM_002021 NP_002012 Q01740 FMO1_HUMAN Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA. 112 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity p.C111Y(1) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AAAGTCTGCAGTGTAACAAAA 0.408000 43 45 1.63429e-32 6.67783e-32 0.000781405 1 0 METTL22 79091 broad.mit.edu 37 16 8729078 8729078 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr16:8729078C>T uc002cyz.3 + 4 885 c.609C>T c.(607-609)ctC>ctT p.L203L METTL22_uc021tcq.1_Non-coding_Transcript NM_024109 NP_077014 Q9BUU2 MET22_HUMAN Homo sapiens methyltransferase like 22 (METTL22), mRNA. 203 methyltransferase activity large_intestine(5)|lung(4) 9 GACAGGACCTCTTCCGAGGAT 0.627000 25 37 0 0 0.00111076 0 0 KCNS2 3788 broad.mit.edu 37 8 99441224 99441224 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:99441224G>A uc003yin.3 + 1 1367 c.1017G>A c.(1015-1017)ggG>ggA p.G339G KCNS2_uc022azb.1_Silent_p.G339G NM_020697 NP_065748 Q9ULS6 KCNS2_HUMAN Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA. 339 voltage-gated potassium channel complex voltage-gated potassium channel activity autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 31 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) TCTCCGTGGGGATTTCCATCT 0.577000 39 25 0 0 0.000720815 0 0 HIATL1 84641 broad.mit.edu 37 9 97177485 97177485 + Missense_Mutation SNP A G G TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr9:97177485A>G uc004aur.3 + 1 423 c.154A>G c.(154-156)Atc>Gtc p.I52V HIATL1_uc011luh.2_5'UTR NM_032558 NP_115947 Q5SR56 HIAL1_HUMAN Homo sapiens hippocampus abundant transcript-like 1 (HIATL1), mRNA. 52 transmembrane transport integral to membrane|plasma membrane protein binding|transporter activity endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1) 11 Acute lymphoblastic leukemia(62;0.136) TGCTATTGTCATCTTCCTTGA 0.363000 235 51 0 0 0.000781405 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209198165 209198165 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:209198165C>T uc002vcz.3 + 23 4248 c.4090C>T c.(4090-4092)Cat>Tat p.H1364Y PIKFYVE_uc002vcy.1_Missense_Mutation_p.H1308Y NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA. 1364 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 TCACTCCATCCATCATGATTA 0.443000 35 11 0 0 0.000978159 0 0 CHAF1A 10036 broad.mit.edu 37 19 4409732 4409732 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:4409732C>T uc002mal.3 + 2 1036 c.936C>T c.(934-936)ttC>ttT p.F312F NM_005483 NP_005474 Q13111 CAF1A_HUMAN Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA. 312 Binds to CBX1 chromo shadow domain. DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 27 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) CCAGTCCCTTCCCCACCTCCA 0.627000 Chromatin Structure 20 22 0 0 0.000720815 0 0 EPO 2056 broad.mit.edu 37 7 100320699 100320699 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:100320699C>T uc003uwi.3 + 4 706 c.525C>T c.(523-525)ttC>ttT p.F175F EPO_uc011kkc.1_Silent_p.F174F NM_000799 NP_000790 P01588 EPO_HUMAN Homo sapiens erythropoietin (EPO), mRNA. 175 blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction extracellular space erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1) 12 Lung NSC(181;0.041)|all_lung(186;0.0581) Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) ACTCCAATTTCCTCCGGGGAA 0.572000 60 94 0 0 0.000781405 0 0 PLA2G6 8398 broad.mit.edu 37 22 38512191 38512191 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr22:38512191G>A uc003auy.1 - 12 1906 c.1770C>T c.(1768-1770)gaC>gaT p.D590D PLA2G6_uc003auz.1_Silent_p.D536D|PLA2G6_uc003ava.1_Silent_p.D590D|PLA2G6_uc003avb.2_Silent_p.D536D|PLA2G6_uc010gxk.1_Non-coding_Transcript|PLA2G6_uc003aux.1_5'Flank NM_003560 NP_003551 O60733 PA2G6_HUMAN Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA. 590 cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 24 Melanoma(58;0.045) Quinacrine(DB01103) CCGGCTGCCGGTCAGACAGTG 0.587000 34 15 0 0 0.000422831 0 0 ANXA1 301 broad.mit.edu 37 9 75781074 75781074 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr9:75781074G>A uc004ajf.1 + 9 842 c.768G>A c.(766-768)ttG>ttA p.L256L ANXA1_uc004ajg.1_Silent_p.L256L NM_000700 NP_000691 P04083 ANXA1_HUMAN Homo sapiens annexin A1 (ANXA1), mRNA. 256 alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5) 8 all_epithelial(88;2.54e-11) OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325) Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620) ACCTGGAGTTGAAAGGTGACA 0.353000 40 21 0 0 0.000720815 0 0 AHCYL2 23382 broad.mit.edu 37 7 129019571 129019571 + Silent SNP T C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:129019571T>C uc011kov.2 + 1 519 c.456T>C c.(454-456)tcT>tcC p.S152S AHCYL2_uc003vot.3_Silent_p.S151S|AHCYL2_uc003vov.3_Silent_p.S49S|AHCYL2_uc011kox.2_Silent_p.S49S NM_015328 NP_056143 Q96HN2 SAHH3_HUMAN Homo sapiens adenosylhomocysteinase-like 2 (AHCYL2), transcript variant 1, mRNA. 152 one-carbon metabolic process adenosylhomocysteinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 22 CTCAGTCATCTACTGACAGCT 0.473000 28 32 0 0 0.000953801 0 0 EREG 2069 broad.mit.edu 37 4 75231042 75231042 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr4:75231042G>A uc003hie.1 + 0 183 c.17G>A c.(16-18)aGg>aAg p.R6K EREG_uc003hid.3_5'UTR NM_001432 NP_001423 O14944 EREG_HUMAN Homo sapiens epiregulin (EREG), mRNA. 6 angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of DNA replication|positive regulation of cell division|positive regulation of cytokine production|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing extracellular space|integral to plasma membrane epidermal growth factor receptor binding|growth factor activity breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1) 13 Lung(101;0.196) GCGGGGAGGAGGATGGAGATG 0.701000 15 12 0 0 0.00136819 0 0 GCNT3 9245 broad.mit.edu 37 15 59911631 59911631 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr15:59911631G>A uc002age.3 + 2 1643 c.1194G>A c.(1192-1194)ttG>ttA p.L398L GCNT3_uc002agd.3_Silent_p.L398L|GCNT3_uc021smz.1_Silent_p.L398L NM_004751 NP_004742 O95395 GCNT3_HUMAN Homo sapiens glucosaminyl (N-acetyl) transferase 3, mucin type (GCNT3), mRNA. 398 protein O-linked glycosylation Golgi membrane|integral to membrane|membrane fraction N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CTGGGGACTTGAATTGGATGC 0.488000 118 34 0 0 0.00111076 0 0 ARC 23237 broad.mit.edu 37 8 143694666 143694666 + Nonsense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:143694666G>A uc022bca.1 - 0 967 c.967C>T c.(967-969)Cag>Tag p.Q323* ARC_uc003ywn.1_Nonsense_Mutation_p.Q323* NM_015193 NP_056008 Q7LC44 ARC_HUMAN Homo sapiens activity-regulated cytoskeleton-associated protein (ARC), mRNA. 323 endocytosis acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 13 all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.0279) ACCACGTACTGGATGATCTCC 0.657000 43 78 0 0 0.000781405 0 0 PCLO 27445 broad.mit.edu 37 7 82585272 82585272 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:82585272C>T uc003uhx.2 - 4 5286 c.4997G>A c.(4996-4998)cGa>cAa p.R1666Q PCLO_uc003uhv.2_Missense_Mutation_p.R1666Q NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 1597 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.R1666Q(3)|p.R1597Q(1) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TGTTTTAAATCGGCGTAGCCC 0.373000 71 73 0 0 0.000781405 0 0 CPXM1 56265 broad.mit.edu 37 20 2776787 2776787 + Nonsense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr20:2776787C>T uc002wgu.3 - 9 1337 c.1263G>A c.(1261-1263)tgG>tgA p.W421* CPXM1_uc010gas.3_Nonsense_Mutation_p.W421* NM_019609 NP_062555 Q96SM3 CPXM1_HUMAN Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA. 421 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 GGCCCTCGGCCCAGCCCACCA 0.602000 55 20 0 0 0.00121646 0 0 TIMD4 91937 broad.mit.edu 37 5 156378734 156378734 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr5:156378734G>A uc003lwh.2 - 2 525 c.468C>T c.(466-468)acC>acT p.T156T TIMD4_uc010jii.2_Silent_p.T156T NM_138379 NP_612388 Q96H15 TIMD4_HUMAN Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA. 156 Thr-rich. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTTGTCGGGTGGTGGTGGGGC 0.532000 292 531 0 0 0.000781405 0 0 GALNT12 79695 broad.mit.edu 37 9 101585614 101585614 + Missense_Mutation SNP T C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr9:101585614T>C uc004ayz.3 + 1 448 c.448T>C c.(448-450)Tca>Cca p.S150P NM_024642 NP_078918 Q8IXK2 GLT12_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) (GALNT12), mRNA. 150 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(62;0.0559) TGAAGCCTGGTCAACTCTCCT 0.423000 30 65 0 0 0.000781405 0 0 PTGES2 80142 broad.mit.edu 37 9 130885305 130885305 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr9:130885305G>A uc004bti.3 - 4 1273 c.795C>T c.(793-795)gtC>gtT p.V265V PTGES2_uc004btk.3_Silent_p.V74V|PTGES2_uc004btl.3_Silent_p.V74V NM_025072 NP_079348 Q9H7Z7 PGES2_HUMAN Homo sapiens prostaglandin E synthase 2 (PTGES2), transcript variant 1, mRNA. 265 GST C-terminal. cell redox homeostasis|prostaglandin biosynthetic process Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity endometrium(1)|large_intestine(1)|lung(2) 4 TGCCCTCGCGGACAATGTAGT 0.622000 69 36 0 0 0.000814825 0 0 WDR69 164781 broad.mit.edu 37 2 228786229 228786229 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:228786229G>A uc002vpn.1 + 11 1244 c.1165G>A c.(1165-1167)Gaa>Aaa p.E389K WDR69_uc010zlw.1_Missense_Mutation_p.E374K|WDR69_uc002vpo.1_Non-coding_Transcript NM_178821 NP_849143 Q8N136 WDR69_HUMAN Homo sapiens WD repeat domain 69 (WDR69), mRNA. 389 breast(1)|kidney(3)|large_intestine(9)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148) GCACACTGATGAAATCTTTTC 0.438000 28 22 0 0 0.00278032 0 0 SCN5A 6331 broad.mit.edu 37 3 38592250 38592250 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr3:38592250C>T uc021wvo.1 - 26 5665 c.5613G>A c.(5611-5613)ctG>ctA p.L1871L SCN5A_uc021wvk.1_Silent_p.L1838L|SCN5A_uc021wvl.1_Silent_p.L1817L|SCN5A_uc021wvm.1_Silent_p.L1853L|SCN5A_uc021wvn.1_Silent_p.L1870L|SCN5A_uc021wvp.1_Silent_p.L1871L|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Silent_p.L1683L|SCN5A_uc021wvi.1_Silent_p.L1737L NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 1871 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TCTGGATCTTCAGGGCGTCCA 0.582000 18 112 0 0 0.000781405 0 0 OVGP1 5016 broad.mit.edu 37 1 111957229 111957230 + Missense_Mutation DNP CC TT TT TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:111957229_111957230CC>TT uc001eba.3 - 10 1949_1950 c.1893_1894GG>AA c.(1891-1896)ccggaa>ccAAaa p.E632K OVGP1_uc001eaz.3_Missense_Mutation_p.E594K|OVGP1_uc010owb.2_Missense_Mutation_p.E280K NM_002557 NP_002548 Q12889 OVGP1_HUMAN Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA. 632 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 39 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) GGAGTTTGTTCCGGGAGCTGGA 0.500000 31 36 0 0 6.4e-05 0 0 GRIA1 2890 broad.mit.edu 37 5 153182025 153182025 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr5:153182025C>T uc011dcy.2 + 14 2552 c.2525C>T c.(2524-2526)tCc>tTc p.S842F GRIA1_uc003lva.4_Missense_Mutation_p.S832F|GRIA1_uc003luy.4_Missense_Mutation_p.S832F|GRIA1_uc003luz.4_Missense_Mutation_p.S737F|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.S752F|GRIA1_uc011dcx.2_Missense_Mutation_p.S763F|GRIA1_uc011dcz.2_Missense_Mutation_p.S842F NM_001114183 NP_001107655 P42261 GRIA1_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA. 832 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TGCTACAAATCCCGTAGTGAA 0.532000 173 47 0 0 0.000781405 0 0 TOB1 10140 broad.mit.edu 37 17 48940475 48940475 + Nonsense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr17:48940475G>A uc002isw.3 - 1 1347 c.904C>T c.(904-906)Cag>Tag p.Q302* TOB1_uc021uac.1_Nonsense_Mutation_p.Q163*|TOB1_uc010wmz.2_Nonsense_Mutation_p.Q302*|TOB1_uc021uad.1_Nonsense_Mutation_p.Q302* NM_005749 NP_005740 P50616 TOB1_HUMAN Homo sapiens transducer of ERBB2, 1 (TOB1), transcript variant 1, mRNA. 302 negative regulation of cell proliferation SH3/SH2 adaptor activity breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) TTACTGTACTGGAGAGGACTG 0.413000 46 55 0 0 0.000781405 0 0 AVIL 10677 broad.mit.edu 37 12 58203401 58203401 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:58203401C>T uc001sqj.2 - 7 947 c.918G>A c.(916-918)caG>caA p.Q306Q AVIL_uc009zqe.2_Silent_p.Q299Q|AVIL_uc001sqk.1_5'Flank|AVIL_uc001sql.4_Silent_p.Q283Q|JA611266_uc021qzr.1_5'Flank NM_006576 NP_006567 O75366 AVIL_HUMAN Homo sapiens advillin (AVIL), mRNA. 306 Core (By similarity). actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development actin cytoskeleton|axon|cytoplasm actin binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6) 32 Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) ACATGGCTGCCTGTTTTTCAG 0.468000 47 17 0 0 0.00074312 0 0 FAM187B 148109 broad.mit.edu 37 19 35715983 35715983 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:35715983C>T uc002nyk.1 - 1 900 c.855G>A c.(853-855)aaG>aaA p.K285K NM_152481 NP_689694 Q17R55 F187B_HUMAN Homo sapiens family with sequence similarity 187, member B (FAM187B), mRNA. 285 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 9 GCACGAAGCACTTGTAGACGG 0.652000 20 8 0 0 0.000274275 0 0 GRXCR1 389207 broad.mit.edu 37 4 42964927 42964927 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr4:42964927G>A uc003gwt.3 + 1 404 c.403G>A c.(403-405)Gaa>Aaa p.E135K NM_001080476 NP_001073945 A8MXD5 GRCR1_HUMAN Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA. 135 Glutaredoxin. cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 AACTGATCTAGAATTTGACCG 0.373000 105 70 0 0 0.000781405 0 0 CASZ1 54897 broad.mit.edu 37 1 10719783 10719783 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:10719783G>A uc001aro.3 - 5 1636 c.1316C>T c.(1315-1317)aCc>aTc p.T439I CASZ1_uc001arp.1_Missense_Mutation_p.T439I|CASZ1_uc009vmx.2_Missense_Mutation_p.T463I|CASZ1_uc001arq.1_Missense_Mutation_p.T298I NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA. 439 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) GGTCCCCGTGGTGATGGAGTC 0.632000 44 23 0 0 0.00278032 0 0 A2ML1 144568 broad.mit.edu 37 12 8982345 8982346 + Missense_Mutation DNP GG AA AA TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:8982345_8982346GG>AA uc001quz.4 + 3 530_531 c.432_433GG>AA c.(430-435)atggat>atAAat p.144_145MD>IN NM_144670 NP_653271 B3KVV6 B3KVV6_HUMAN Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA. 0 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 TTGTCACCATGGATAGCAACTT 0.436000 66 23 0 0 6.4e-05 0 0 NEB 4703 broad.mit.edu 37 2 152506779 152506779 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:152506779G>A uc021vrb.1 - 51 7371 c.7342C>T c.(7342-7344)Cgt>Tgt p.R2448C NEB_uc002txu.3_Missense_Mutation_p.R2448C|NEB_uc021vrc.1_Missense_Mutation_p.R2448C|NEB_uc010fnx.3_Missense_Mutation_p.R2448C|NEB_uc021vrd.1_Missense_Mutation_p.R2448C NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 2448 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle p.R2448C(3) NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GGAGGCTGACGATATTTCTTC 0.463000 19 31 0 0 0.0024448 0 0 abParts 0 broad.mit.edu 37 14 106994098 106994098 + RNA SNP G T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr14:106994098G>T uc021ser.1 - 233 c.9156C>A Parts of antibodies, mostly variable regions. GACTCCACCAGCTGCACCTCA 0.522000 30 15 2.4624e-09 9.96067e-09 0.00121646 1 0 SLC16A3 9123 broad.mit.edu 37 17 80194685 80194685 + Missense_Mutation SNP A C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr17:80194685A>C uc002kea.3 + 2 454 c.304A>C c.(304-306)Atg>Ctg p.M102L SLC16A3_uc021ufm.1_Missense_Mutation_p.M102L|SLC16A3_uc002keb.3_Missense_Mutation_p.M102L|SLC16A3_uc002kec.3_Missense_Mutation_p.M102L|SLC16A3_uc002ked.3_Missense_Mutation_p.M102L|SLC16A3_uc021ufn.1_Missense_Mutation_p.M102L|SLC16A3_uc021ufo.1_Missense_Mutation_p.M102L NM_001042422 NP_004198 O15427 MOT4_HUMAN Homo sapiens solute carrier family 16, member 3 (monocarboxylic acid transporter 4) (SLC16A3), transcript variant 2, mRNA. 102 blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane secondary active monocarboxylate transmembrane transporter activity|symporter activity endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149) Pyruvic acid(DB00119) GTCGCTGGGCATGGTGGCTGC 0.662000 OREG0024821 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 56 0 0 0.000781405 0 0 SLC6A10P 386757 broad.mit.edu 37 16 32890622 32890622 + Missense_Mutation SNP T G G TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr16:32890622T>G uc002edh.1 - 4 440 c.264A>C c.(262-264)aaA>aaC p.K88N SLC6A10P_uc002edi.1_Non-coding_Transcript Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA. CGTTGGTGTTTTTGTAGACCA 0.617000 17 3 0 0 6.4e-05 0 0 KRT82 3888 broad.mit.edu 37 12 52788947 52788947 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:52788947C>T uc001sai.1 - 8 1469 c.1354G>A c.(1354-1356)Gag>Aag p.E452K NM_033033 NP_149022 Q9NSB4 KRT82_HUMAN Homo sapiens keratin 82 (KRT82), mRNA. 452 Tail. E -> D (in dbSNP:rs1732263). keratin filament protein binding|structural constituent of epidermis endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 29 BRCA - Breast invasive adenocarcinoma(357;0.193) CCACATGGCTCGTACAGGAAG 0.617000 10 5 0 0 0.00116845 0 0 ZNF408 79797 broad.mit.edu 37 11 46726422 46726422 + Missense_Mutation SNP G T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr11:46726422G>T uc001nde.2 + 4 1453 c.1172G>T c.(1171-1173)aGc>aTc p.S391I ZNF408_uc010rgw.2_Missense_Mutation_p.S383I NM_024741 NP_079017 Q9H9D4 ZN408_HUMAN Homo sapiens zinc finger protein 408 (ZNF408), transcript variant 1, mRNA. 391 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 AAGAGCTATAGCTCAGAGGAG 0.577000 7 36 1.08052e-11 4.39284e-11 0.000814825 1 0 SMC3 9126 broad.mit.edu 37 10 112356234 112356234 + Missense_Mutation SNP A T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr10:112356234A>T uc001kze.3 + 18 2168 c.2042A>T c.(2041-2043)gAt>gTt p.D681V NM_005445 NP_005436 Q9UQE7 SMC3_HUMAN Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA. 681 DNA mediated transformation|DNA repair|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) TTGCAAAAAGATGTTAGAAAA 0.373000 6 35 0 0 0.000953801 0 0 ASAP3 55616 broad.mit.edu 37 1 23760005 23760005 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:23760005C>T uc001bha.2 - 20 2164 c.2040G>A c.(2038-2040)ggG>ggA p.G680G ASAP3_uc001bgy.1_Silent_p.G184G|ASAP3_uc010odz.1_Silent_p.G549G|ASAP3_uc010oea.1_Silent_p.G671G NM_017707 NP_060177 Q8TDY4 ASAP3_HUMAN Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 (ASAP3), transcript variant 1, mRNA. 680 regulation of ARF GTPase activity cytoplasm ARF GTPase activator activity|zinc ion binding p.A679A(1) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 24 AGGCAAAGGTCCCCGCCTGGG 0.592000 93 29 0 0 0.00209593 0 0 NCAPG2 54892 broad.mit.edu 37 7 158473481 158473481 + Missense_Mutation SNP T C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:158473481T>C uc011kwe.1 - 9 1097 c.952A>G c.(952-954)Aaa>Gaa p.K318E NCAPG2_uc010lqu.1_Missense_Mutation_p.K110E|NCAPG2_uc003wnx.1_Missense_Mutation_p.K318E|NCAPG2_uc003wnv.1_Missense_Mutation_p.K318E|NCAPG2_uc003wnw.1_Non-coding_Transcript NM_017760 NP_060230 Q86XI2 CNDG2_HUMAN Homo sapiens non-SMC condensin II complex, subunit G2 (NCAPG2), mRNA. 318 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 39 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) TGCCGAACTTTCTTTTGATGG 0.328000 80 37 0 0 0.00195071 0 0 COL5A2 1290 broad.mit.edu 37 2 189916152 189916152 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:189916152C>T uc002uqk.3 - 41 3100 c.2825G>A c.(2824-2826)gGt>gAt p.G942D COL5A2_uc010frx.3_Missense_Mutation_p.G518D NM_000393 NP_000384 P05997 CO5A2_HUMAN Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA. 942 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CCCACGAAGACCTGGAGGTCC 0.617000 20 8 0 0 0.000274275 0 0 ZNF485 220992 broad.mit.edu 37 10 44111922 44111922 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr10:44111922C>T uc010qfc.2 + 4 625 c.431C>T c.(430-432)tCc>tTc p.S144F ZNF485_uc010qfd.2_Missense_Mutation_p.S53F NM_145312 NP_660355 Q8NCK3 ZN485_HUMAN Homo sapiens zinc finger protein 485 (ZNF485), mRNA. 144 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 TACAATTCGTCCTTTATTAGC 0.418000 11 29 0 0 0.00106085 0 0 NPC1L1 29881 broad.mit.edu 37 7 44578652 44578652 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:44578652C>T uc003tlb.3 - 1 1400 c.1344G>A c.(1342-1344)caG>caA p.Q448Q NPC1L1_uc011kbw.2_Silent_p.Q448Q|NPC1L1_uc003tlc.3_Silent_p.Q448Q|NPC1L1_uc003tld.3_Silent_p.Q448Q NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA. 448 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) GCAGCCTCTCCTGCAGCTCTA 0.602000 24 19 0 0 0.000958276 0 0 ZNF638 27332 broad.mit.edu 37 2 71592693 71592694 + Missense_Mutation DNP CC TT TT TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:71592693_71592694CC>TT uc002shx.3 + 5 2175_2176 c.1852_1853CC>TT c.(1852-1854)cca>TTa p.P618L ZNF638_uc010fec.2_Missense_Mutation_p.P724L|ZNF638_uc010yqw.1_Missense_Mutation_p.P197L|ZNF638_uc002shw.3_Missense_Mutation_p.P618L|ZNF638_uc002shz.3_Missense_Mutation_p.P618L|ZNF638_uc002shy.3_Missense_Mutation_p.P618L|ZNF638_uc002sia.3_Missense_Mutation_p.P618L|ZNF638_uc002sib.1_Missense_Mutation_p.P618L NM_014497 NP_055312 Q14966 ZN638_HUMAN Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA. 618 RNA splicing cytoplasm|nuclear speck RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 TGGAACAAAACCATCAGTTAAA 0.386000 11 7 0 0 6.4e-05 0 0 ATP6V1C2 245973 broad.mit.edu 37 2 10863030 10863031 + Missense_Mutation DNP CT TG TG TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:10863030_10863031CT>TG uc002ras.3 + 1 164_165 c.55_56CT>TG c.(55-57)ctg>TGg p.L19W ATP6V1C2_uc002rat.3_Missense_Mutation_p.L19W NM_001039362 NP_001034451 Q8NEY4 VATC2_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA. 19 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) TTTGCAAGCTCTGGAGAGGATG 0.436000 37 5 0 0 6.4e-05 0 0 ZNF276 92822 broad.mit.edu 37 16 89789687 89789688 + Missense_Mutation DNP CC TT TT TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr16:89789687_89789688CC>TT uc002fos.4 + 3 673_674 c.576_577CC>TT c.(574-579)agcccc>agTTcc p.P193S C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.3_5'UTR|ZNF276_uc002foq.4_Missense_Mutation_p.P118S|ZNF276_uc010cir.3_Non-coding_Transcript|ZNF276_uc002for.4_5'UTR|ZNF276_uc010cis.3_5'UTR|ZNF276_uc002fot.4_Non-coding_Transcript|ZNF276_uc010vpm.2_Missense_Mutation_p.P31S|ZNF276_uc010cit.2_5'UTR NM_001113525 NP_001106997 Q8N554 ZN276_HUMAN Homo sapiens zinc finger protein 276 (ZNF276), transcript variant a, mRNA. 193 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1) 14 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) TCACATCCAGCCCCCAGTGCCT 0.653000 16 18 0 0 6.4e-05 0 0 SI 6476 broad.mit.edu 37 3 164748616 164748616 + Missense_Mutation SNP T C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr3:164748616T>C uc003fei.3 - 24 2839 c.2776A>G c.(2776-2778)Aac>Gac p.N926D NM_001041 NP_001032 P14410 SUIS_HUMAN Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA. 926 Isomaltase. carbohydrate metabolic process|polysaccharide digestion Golgi apparatus|apical plasma membrane|brush border|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ACACTAAAGTTTCTTCCAAGA 0.294000 HNSCC(35;0.089) 14 73 0 0 0.000781405 0 0 TBX19 9095 broad.mit.edu 37 1 168260457 168260457 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:168260457C>T uc001gfl.3 + 1 314 c.263C>T c.(262-264)tCc>tTc p.S88F TBX19_uc001gfj.4_Missense_Mutation_p.S19F NM_005149 NP_005140 O60806 TBX19_HUMAN Homo sapiens T-box 19 (TBX19), mRNA. 88 anatomical structure morphogenesis nucleus DNA binding NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1) 34 all_hematologic(923;0.215) GCCATGTACTCCCTCCTGCTG 0.552000 61 58 0 0 0.000781405 0 0 GRM5 2915 broad.mit.edu 37 11 88241888 88241888 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr11:88241888C>T uc001pcq.3 - 8 3711 c.3511G>A c.(3511-3513)Gac>Aac p.D1171N GRM5_uc009yvm.3_Missense_Mutation_p.D1139N NM_001143831 NP_001137303 P41594 GRM5_HUMAN Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA. 1171 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) TCCACCGAGTCTCTGAAGGGG 0.667000 1 8 0 0 0.000274275 0 0 PCDHB12 56124 broad.mit.edu 37 5 140588590 140588590 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr5:140588590G>A uc003liz.3 + 0 300 c.111G>A c.(109-111)gaG>gaA p.E37E PCDHB12_uc011dak.2_5'UTR NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN Homo sapiens protocadherin beta 12 (PCDHB12), mRNA. 37 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.M36T(1) NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGGTGATGGAGGAATTGCAGA 0.527000 46 96 0 0 0.000781405 0 0 SLC35F2 54733 broad.mit.edu 37 11 107686587 107686587 + Missense_Mutation SNP G T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr11:107686587G>T uc001pjq.3 - 1 636 c.215C>A c.(214-216)cCc>cAc p.P72H SLC35F2_uc010rvu.2_Intron|SLC35F2_uc001pjs.3_Missense_Mutation_p.P72H NM_017515 NP_059985 Q8IXU6 S35F2_HUMAN Homo sapiens solute carrier family 35, member F2 (SLC35F2), mRNA. 72 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217) CTGAAGCATGGGGGTGTTCAC 0.398000 42 23 3.7963e-18 1.54924e-17 0.00047179 1 0 SPAG9 9043 broad.mit.edu 37 17 49118926 49118926 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr17:49118926G>A uc002itc.3 - 4 886 c.677C>T c.(676-678)aCc>aTc p.T226I SPAG9_uc002itd.3_Missense_Mutation_p.T226I|SPAG9_uc002itb.3_Missense_Mutation_p.T226I|SPAG9_uc002itf.3_Missense_Mutation_p.T61I|SPAG9_uc002ita.3_Missense_Mutation_p.T83I|SPAG9_uc002ite.3_Missense_Mutation_p.T56I|SPAG9_uc002itg.3_Missense_Mutation_p.T83I NM_001130528 NP_001124000 O60271 JIP4_HUMAN Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA. 226 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) AGATCCAGGGGTCTCTCCTCC 0.423000 57 16 0 0 0.000308642 0 0 FAT3 120114 broad.mit.edu 37 11 92624019 92624019 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr11:92624019G>A uc001pdj.4 + 24 13431 c.13414G>A c.(13414-13416)Gat>Aat p.D4472N FAT3_uc001pdi.4_Missense_Mutation_p.D944N NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 4504 Pro-rich. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CAACGAAACGGATTTGGTGGG 0.587000 TCGA Ovarian(4;0.039) 53 212 0 0 0.000781405 0 0 SRRM2 23524 broad.mit.edu 37 16 2815758 2815759 + Nonsense_Mutation DNP CC TT TT TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr16:2815758_2815759CC>TT uc002crk.3 + 10 5778_5779 c.5229_5230CC>TT c.(5227-5232)cgccga>cgTTga p.R1744* SRRM2_uc002crj.1_Nonsense_Mutation_p.R1648*|SRRM2_uc002crl.1_Nonsense_Mutation_p.R1744*|SRRM2_uc010bsu.1_Nonsense_Mutation_p.R1648* NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA. 1744 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 GGTCTTCACGCCGACGGCGCTC 0.604000 33 11 0 0 6.4e-05 0 0 AXIN2 8313 broad.mit.edu 37 17 63545770 63545770 + Missense_Mutation SNP T C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr17:63545770T>C uc002jfi.3 - 2 1113 c.824A>G c.(823-825)aAg>aGg p.K275R AXIN2_uc010den.1_Missense_Mutation_p.K275R|AXIN2_uc002jfh.3_Missense_Mutation_p.K275R NM_004655 NP_004646 Q9Y2T1 AXIN2_HUMAN Homo sapiens axin 2 (AXIN2), mRNA. 275 Wnt receptor signaling pathway involved in somitogenesis|cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|mRNA stabilization|maintenance of DNA repeat elements|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density GTPase activator activity|armadillo repeat domain binding|beta-catenin binding|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 34 ATCGCTCCTCTTGAAGGACCT 0.517000 Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome 10 3 0 0 0.00024832 0 0 RPS27A 6233 broad.mit.edu 37 2 55459989 55459989 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:55459989G>A uc010yow.2 + 1 252 c.29G>A c.(28-30)gGg>gAg p.G10E C2orf63_uc002ryh.2_5'Flank|C2orf63_uc002ryi.2_5'Flank|C2orf63_uc002ryj.2_5'Flank|RPS27A_uc002ryk.3_Missense_Mutation_p.G10E|RPS27A_uc021vhs.1_Missense_Mutation_p.G10E NM_001135592 NP_002945 P62979 RS27A_HUMAN Homo sapiens ribosomal protein S27a (RPS27A), transcript variant 2, mRNA. 10 Ubiquitin-like. DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane metal ion binding|structural constituent of ribosome cervix(1)|ovary(1)|urinary_tract(1) 3 ACCCTTACGGGGAAGACCATC 0.542000 16 8 0 0 0.000274275 0 0 COL11A1 1301 broad.mit.edu 37 1 103468307 103468307 + Missense_Mutation SNP T C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:103468307T>C uc001dum.3 - 21 2393 c.2075A>G c.(2074-2076)aAc>aGc p.N692S COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Missense_Mutation_p.N680S|COL11A1_uc001dun.3_Missense_Mutation_p.N641S|COL11A1_uc009weh.3_Missense_Mutation_p.N564S NM_080629 NP_542196 P12107 COBA1_HUMAN Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. 680 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ACATACCATGTTCCCTTTTGG 0.313000 43 32 0 0 0.00283554 0 0 TRIM49 57093 broad.mit.edu 37 11 89531552 89531552 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr11:89531552C>T uc001pdb.3 - 7 1434 c.1105G>A c.(1105-1107)Gag>Aag p.E369K NM_020358 NP_065091 P0CI25 TRI49_HUMAN Homo sapiens tripartite motif containing 49 (TRIM49), mRNA. 369 B30.2/SPRY. intracellular zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1) 27 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) TCTATCTTCTCATTCTGATTC 0.433000 14 25 0 0 0.00106085 0 0 CD99L2 83692 broad.mit.edu 37 X 149963941 149963941 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chrX:149963941G>A uc004fek.3 - 4 536 c.308C>T c.(307-309)aCc>aTc p.T103I CD99L2_uc011myb.2_Intron|CD99L2_uc004feo.3_Non-coding_Transcript|CD99L2_uc004fel.3_Missense_Mutation_p.T99I|CD99L2_uc004fem.3_Missense_Mutation_p.T50I|CD99L2_uc004fen.3_Intron NM_001242614 NP_001229543 Q8TCZ2 C99L2_HUMAN Homo sapiens CD99 molecule-like 2 (CD99L2), transcript variant 5, mRNA. 99 cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GGTCGTGGTGGTTACATGGTT 0.512000 12 59 0 0 0.000781405 0 0 PIF1 80119 broad.mit.edu 37 15 65112147 65112147 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr15:65112147G>A uc002ant.2 - 7 1298 c.1232C>T c.(1231-1233)gCt>gTt p.A411V PIF1_uc002anr.2_5'UTR|PIF1_uc002ans.2_Missense_Mutation_p.A102V|PIF1_uc010uiq.1_Missense_Mutation_p.A411V NM_025049 NP_079325 Q9H611 PIF1_HUMAN Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA. 411 Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity. negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication nuclear chromosome, telomeric region ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding kidney(1)|lung(1) 2 CTTGTGGGAAGCTGTGGCCTG 0.642000 69 15 0 0 0.000566183 0 0 TMEM48 55706 broad.mit.edu 37 1 54284741 54284742 + Missense_Mutation DNP GA AC AC TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:54284741_54284742GA>AC uc001cvs.3 - 5 896_897 c.605_606TC>GT c.(604-606)ttc>tGT p.F202C TMEM48_uc010onu.2_Missense_Mutation_p.F162C|TMEM48_uc001cvt.3_Missense_Mutation_p.F79C|TMEM48_uc009vzk.3_Non-coding_Transcript|TMEM48_uc010onv.2_5'UTR NM_018087 NP_060557 Q9BTX1 NDC1_HUMAN Homo sapiens transmembrane protein 48 (TMEM48), transcript variant 1, mRNA. 202 mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 18 TAAAACGCAAGAACTTGTATTG 0.332000 37 11 0 0 6.4e-05 0 0 FOXN2 3344 broad.mit.edu 37 2 48602121 48602121 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:48602121C>T uc002rwh.1 + 6 1150 c.835C>T c.(835-837)Cat>Tat p.H279Y NM_002158 NP_002149 P32314 FOXN2_HUMAN Homo sapiens forkhead box N2 (FOXN2), mRNA. 279 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 13 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036) CAATGCATTTCATCATCCCAG 0.408000 9 17 0 0 0.000422831 0 0 MCM4 4173 broad.mit.edu 37 8 48883220 48883220 + Silent SNP C A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:48883220C>A uc003xqk.2 + 11 2410 c.1584C>A c.(1582-1584)ccC>ccA p.P528P MCM4_uc003xql.2_Silent_p.P528P|MCM4_uc011ldi.2_Silent_p.P515P NM_182746 NP_877423 P33991 MCM4_HUMAN Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA. 528 MCM. DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint MCM complex ATP binding|DNA binding|helicase activity|protein binding biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 44 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) ACCTCGTCCCCAGGGGCCAGT 0.582000 30 22 5.45024e-15 2.22139e-14 0.00047179 1 0 PDE8A 5151 broad.mit.edu 37 15 85660972 85660972 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr15:85660972G>A uc002blh.3 + 16 1825 c.1636G>A c.(1636-1638)Gaa>Aaa p.E546K PDE8A_uc021stv.1_Missense_Mutation_p.E474K|PDE8A_uc002bli.3_Missense_Mutation_p.E500K|PDE8A_uc010bnc.3_Missense_Mutation_p.E299K|PDE8A_uc010bnd.3_Missense_Mutation_p.E299K|PDE8A_uc002blj.3_Missense_Mutation_p.E166K|PDE8A_uc002blk.3_Missense_Mutation_p.E166K|PDE8A_uc002bll.3_5'Flank NM_002605 NP_001230066 O60658 PDE8A_HUMAN Homo sapiens phosphodiesterase 8A (PDE8A), transcript variant 1, mRNA. 546 Catalytic (By similarity). cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(223;0.227) BRCA - Breast invasive adenocarcinoma(143;0.0608) ACAAATTATCGAAGCCAATTA 0.413000 150 57 0 0 0.000781405 0 0 MLLT1 4298 broad.mit.edu 37 19 6270714 6270714 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:6270714G>A uc002mek.3 - 1 233 c.69C>T c.(67-69)ccC>ccT p.P23P NM_005934 NP_005925 Q03111 ENL_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (MLLT1), mRNA. 23 YEATS. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2) 17 CCTCCGTGGTGGGCTTCTTGC 0.617000 T MLL AL OREG0025198 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 8 0 0 0.000978159 0 0 STAP1 26228 broad.mit.edu 37 4 68424572 68424572 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr4:68424572C>T uc003hde.4 + 0 127 c.45C>T c.(43-45)ttC>ttT p.F15F STAP1_uc003hdf.3_Silent_p.F15F NM_012108 NP_036240 Q9ULZ2 STAP1_HUMAN Homo sapiens signal transducing adaptor family member 1 (STAP1), mRNA. 15 cellular membrane fusion|intracellular protein transport cytoplasm NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 12 GCAGGATCTTCCAGGAAAGGT 0.423000 81 55 0 0 0.000781405 0 0 CDH17 1015 broad.mit.edu 37 8 95186112 95186112 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:95186112G>A uc003ygh.2 - 6 821 c.696C>T c.(694-696)atC>atT p.I232I CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Silent_p.I232I NM_004063 NP_004054 Q12864 CAD17_HUMAN Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA. 232 Cadherin 2. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) CTGTCACTATGATATCCACAG 0.443000 78 64 0 0 0.000781405 0 0 CHRM2 1129 broad.mit.edu 37 7 136699707 136699707 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:136699707C>T uc003vtf.1 + 3 718 c.95C>T c.(94-96)tCc>tTc p.S32F CHRM2_uc003vtg.1_Missense_Mutation_p.S32F|CHRM2_uc003vti.1_Missense_Mutation_p.S32F|CHRM2_uc003vtm.1_Missense_Mutation_p.S32F|CHRM2_uc003vtj.1_Missense_Mutation_p.S32F|CHRM2_uc003vtk.1_Missense_Mutation_p.S32F|CHRM2_uc003vtl.1_Missense_Mutation_p.S32F|CHRM2_uc003vtn.1_Missense_Mutation_p.S32F|CHRM2_uc003vto.1_Missense_Mutation_p.S32F|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.S32F NM_001006630 NP_001006633 P08172 ACM2_HUMAN Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA. 32 G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) GTGGCTGGATCCCTCAGTTTG 0.423000 84 30 0 0 0.00106085 0 0 TAL1 6886 broad.mit.edu 37 1 47685531 47685531 + Missense_Mutation SNP G A A rs146355469 TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:47685531G>A uc001cqx.2 - 3 1434 c.857C>T c.(856-858)tCc>tTc p.S286F TAL1_uc009vyq.2_Missense_Mutation_p.P43S|TAL1_uc001cqy.2_Missense_Mutation_p.S286F NM_003189 NP_003180 P17542 TAL1_HUMAN Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA. 286 basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 15 GGAGTTGGGGGAAAGCACGTC 0.711000 T """TRD@, SIL""" lymphoblastic leukemia/biphasic 33 7 0 0 0.000157383 0 0 ARID5B 84159 broad.mit.edu 37 10 63852296 63852296 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr10:63852296G>A uc001jlt.2 + 9 3530 c.3074G>A c.(3073-3075)gGg>gAg p.G1025E ARID5B_uc001jlu.2_Missense_Mutation_p.G782E NM_032199 NP_115575 Q14865 ARI5B_HUMAN Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA. 1025 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding p.G1025R(1) NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) GTGATTGCAGGGAAAAAGGCC 0.597000 16 50 0 0 0.000781405 0 0 GPR148 344561 broad.mit.edu 37 2 131487758 131487758 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:131487758C>T uc002trv.2 + 0 1116 c.1034C>T c.(1033-1035)aCc>aTc p.T345I NM_207364 NP_997247 Q8TDV2 GP148_HUMAN Homo sapiens G protein-coupled receptor 148 (GPR148), mRNA. 345 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1) 27 Colorectal(110;0.1) GCCATCTTTACCATTTCCTAG 0.527000 3 4 0 0 0.00116845 0 0 DENND2C 163259 broad.mit.edu 37 1 115078991 115078991 + RNA SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:115078991G>A uc001eez.3 - 28 c.4652C>T NM_198459 Q68D51 DEN2C_HUMAN Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA. 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) GCTCATCAAGGGCAGCAGCAC 0.532000 23 9 0 0 0.000274275 0 0 ATXN3L 92552 broad.mit.edu 37 X 13337364 13337364 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chrX:13337364C>T uc010ned.3 - 0 1155 c.690G>A c.(688-690)caG>caA p.Q230Q NM_001135995 NP_001129467 Q9H3M9 ATX3L_HUMAN Homo sapiens ataxin 3-like (ATXN3L), mRNA. 230 protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ubiquitin-specific protease activity endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 CAAGGGCCCTCTGAAAATCCT 0.413000 40 222 0 0 0.000781405 0 0 MUC16 94025 broad.mit.edu 37 19 9046744 9046745 + Missense_Mutation DNP CC TT TT TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:9046744_9046745CC>TT uc002mkp.3 - 4 35090_35091 c.34886_34887GG>AA c.(34885-34887)ggg>gAA p.G11629E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 11631 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGGTCACTACCCCTGGTATACT 0.520000 37 29 0 0 6.4e-05 0 0 SAMD15 161394 broad.mit.edu 37 14 77846786 77846786 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr14:77846786C>T uc001xtq.1 + 1 1750 c.1750C>T c.(1750-1752)Ctc>Ttc p.L584F NM_001010860 NP_001010860 Q9P1V8 SAM15_HUMAN Homo sapiens sterile alpha motif domain containing 15 (SAMD15), mRNA. 584 SAM. breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CTGCTCAAACCTCCCTCAGAT 0.428000 13 13 0 0 0.000308642 0 0 CSMD3 114788 broad.mit.edu 37 8 113308134 113308134 + Nonsense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:113308134G>A uc003ynu.3 - 53 8701 c.8542C>T c.(8542-8544)Cga>Tga p.R2848* CSMD3_uc003yns.3_Nonsense_Mutation_p.R2050*|CSMD3_uc003ynt.3_Nonsense_Mutation_p.R2808*|CSMD3_uc011lhx.2_Nonsense_Mutation_p.R2679* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 2848 Sushi 18. integral to membrane|plasma membrane p.F2847I(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CCAATCAATCGAAAACCAGGA 0.403000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 37 26 0 0 0.000720815 0 0 MYO5B 4645 broad.mit.edu 37 18 47527697 47527697 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr18:47527697G>A uc002leb.2 - 4 828 c.540C>T c.(538-540)ttC>ttT p.F180F MYO5B_uc021ukb.1_Silent_p.F179F NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN Homo sapiens myosin VB (MYO5B), mRNA. 180 Myosin head-like. protein transport myosin complex ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) CAACGGTGGCGAAATAGCGCA 0.532000 73 69 0 0 0.000781405 0 0 FOXP1 27086 broad.mit.edu 37 3 71161711 71161711 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr3:71161711C>T uc003dol.3 - 2 581 c.258G>A c.(256-258)agG>agA p.R86R FOXP1_uc003dom.3_Silent_p.R86R|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_Silent_p.R86R|FOXP1_uc003doo.3_Silent_p.R86R|FOXP1_uc003dop.3_Silent_p.R86R|FOXP1_uc021xao.1_Silent_p.R86R|FOXP1_uc003doq.1_Silent_p.R86R|FOXP1_uc003dok.3_Silent_p.R88R|FOXP1_uc003doj.3_Silent_p.R88R NM_001244814 NP_001231743 Q9H334 FOXP1_HUMAN Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA. 86 Gln-rich. cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) GTTTGTCATTCCTCTTGGGAG 0.413000 T PAX5 ALL 22 122 0 0 0.000781405 0 0 ING2 3622 broad.mit.edu 37 4 184432048 184432048 + Missense_Mutation SNP T A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr4:184432048T>A uc003ivs.1 + 1 915 c.786T>A c.(784-786)aaT>aaA p.N262K ING2_uc011ckk.1_Missense_Mutation_p.N222K NM_001564 NP_001555 Q9H160 ING2_HUMAN Homo sapiens inhibitor of growth family, member 2 (ING2), mRNA. 262 chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent CCAAT-binding factor complex|Sin3 complex DNA binding|chromatin binding|protein complex binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1) 7 all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202) all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) GGGGAGATAATGAGAAAACAA 0.353000 24 14 0 0 0.00185496 0 0 ZNF609 23060 broad.mit.edu 37 15 64915245 64915245 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr15:64915245G>A uc002ann.3 + 1 967 c.967G>A c.(967-969)Gaa>Aaa p.E323K NM_015042 NP_055857 O15014 ZN609_HUMAN Homo sapiens zinc finger protein 609 (ZNF609), mRNA. 323 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GCAGGAAACAGAAGATGGTAA 0.512000 43 10 0 0 0.000673444 0 0 SSTR2 6752 broad.mit.edu 37 17 71166474 71166474 + Missense_Mutation SNP A T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr17:71166474A>T uc002jje.3 + 1 1376 c.1016A>T c.(1015-1017)gAg>gTg p.E339V SSTR2_uc021ucm.1_Missense_Mutation_p.E339V NM_001050 NP_001041 P30874 SSR2_HUMAN Homo sapiens somatostatin receptor 2 (SSTR2), mRNA. 339 digestion|negative regulation of cell proliferation|response to nutrient integral to plasma membrane PDZ domain binding|somatostatin receptor activity endometrium(2)|large_intestine(5)|lung(2)|prostate(2) 11 LUSC - Lung squamous cell carcinoma(166;0.197) GATGATGGGGAGCGGAGTGAC 0.522000 51 14 0 0 0.000308642 0 0 UNC5D 137970 broad.mit.edu 37 8 35583765 35583765 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:35583765G>A uc003xjr.2 + 9 1727 c.1399G>A c.(1399-1401)Gag>Aag p.E467K UNC5D_uc003xjs.2_Missense_Mutation_p.E462K|UNC5D_uc003xju.2_Missense_Mutation_p.E43K|UNC5D_uc003xjt.1_Missense_Mutation_p.E225K NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA. 467 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TCTGGACAAGGAGCTCATGAC 0.532000 36 35 0 0 0.00283554 0 0 CELSR3 1951 broad.mit.edu 37 3 48698913 48698913 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr3:48698913G>A uc003cuf.1 - 2 1365 c.1365C>T c.(1363-1365)atC>atT p.I455I CELSR3_uc003cul.3_Silent_p.I385I NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA. 385 Cadherin 2. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CCGCCGTACGGATAAGGCCGC 0.697000 22 16 0 0 0.000422831 0 0 ESRRB 2103 broad.mit.edu 37 14 76928933 76928933 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr14:76928933C>T uc001xsr.3 + 4 814 c.443C>T c.(442-444)aCc>aTc p.T148I ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Missense_Mutation_p.T148I NM_004452 NP_004443 A2VDJ2 A2VDJ2_HUMAN Homo sapiens estrogen-related receptor beta (ESRRB), mRNA. 148 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(234;0.0213) TGCGAGATCACCAAACGGAGG 0.622000 25 26 0 0 0.000720815 0 0 SOGA2 23255 broad.mit.edu 37 18 8720455 8720455 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr18:8720455C>T uc002knr.2 + 3 460 c.318C>T c.(316-318)tcC>tcT p.S106S SOGA2_uc002knq.2_Silent_p.S106S NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA. 457 TGGAAATATCCAAACAGGCCC 0.488000 39 21 0 0 0.00278032 0 0 NOX5 79400 broad.mit.edu 37 15 69329473 69329473 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr15:69329473C>T uc002ars.2 + 7 1335 c.1294C>T c.(1294-1296)Ctg>Ttg p.L432L MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Silent_p.L386L|NOX5_uc002arp.2_Silent_p.L414L|NOX5_uc010bid.2_Silent_p.L397L|NOX5_uc010bie.2_Silent_p.L232L|NOX5_uc002arr.2_Silent_p.L404L|NOX5_uc010bif.2_Non-coding_Transcript NM_024505 NP_078781 Q96PH1 NOX5_HUMAN Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA. 432 Ferric oxidoreductase. angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 CTTGTTTTTCCTGGAGAAGGC 0.567000 64 25 0 0 0.00127121 0 0 LPHN1 22859 broad.mit.edu 37 19 14263373 14263373 + Missense_Mutation SNP G C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:14263373G>C uc010xnn.2 - 20 3787 c.3491C>G c.(3490-3492)tCc>tGc p.S1164C LPHN1_uc010xno.2_Missense_Mutation_p.S1159C|LOC100507373_uc002myf.3_Intron NM_001008701 NP_001008701 O94910 LPHN1_HUMAN Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA. 1164 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CGCCATGAAGGAGGACTCCGT 0.587000 6 12 0 0 0.000422831 0 0 KIAA1737 85457 broad.mit.edu 37 14 77580243 77580243 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr14:77580243C>T uc001xtd.3 + 3 961 c.782C>T c.(781-783)tCc>tTc p.S261F KIAA1737_uc001xtc.1_Missense_Mutation_p.S163F NM_033426 NP_219494 Q9C0C6 K1737_HUMAN Homo sapiens KIAA1737 (KIAA1737), mRNA. 261 endometrium(2)|lung(4)|prostate(3) 9 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0284) ACCTTCGCTTCCCCCGCCAGT 0.567000 27 14 0 0 0.00244969 0 0 FAM58A 92002 broad.mit.edu 37 X 152860083 152860083 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chrX:152860083G>A uc011myr.2 - 3 450 c.339C>T c.(337-339)ctC>ctT p.L113L FAM58A_uc011mys.2_Silent_p.L113L NM_152274 NP_689487 Q8N1B3 FA58A_HUMAN Homo sapiens family with sequence similarity 58, member A (FAM58A), transcript variant 1, mRNA. 117 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1) 6 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGCTGTCCCGGAGTTCCCAGA 0.567000 2 32 0 0 0.0024448 0 0 ZNF157 7712 broad.mit.edu 37 X 47271947 47271947 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chrX:47271947G>A uc004dhr.1 + 3 544 c.475G>A c.(475-477)Gat>Aat p.D159N NM_003446 NP_003437 P51786 ZN157_HUMAN Homo sapiens zinc finger protein 157 (ZNF157), mRNA. 159 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 ACCCAGAGGAGATAAAAACTT 0.383000 2 28 0 0 0.00106085 0 0 BPIFB1 92747 broad.mit.edu 37 20 31890751 31890751 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr20:31890751C>T uc002wyw.1 + 10 1172 c.1011C>T c.(1009-1011)atC>atT p.I337I BPIFB1_uc002wyx.1_Non-coding_Transcript NM_033197 NP_149974 Q8TDL5 LPLC1_HUMAN Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA. 337 extracellular space lipid binding CTACCCAGATCGTGAAGATCC 0.552000 56 33 0 0 0.000814825 0 0 IGJ 3512 broad.mit.edu 37 4 71522094 71522094 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr4:71522094G>A uc010ihz.3 - 4 621 c.480C>T c.(478-480)acC>acT p.T160T IGJ_uc003hfn.4_Silent_p.T144T NM_144646 NP_653247 P01591 IGJ_HUMAN Homo sapiens immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides (IGJ), mRNA. 144 immune response extracellular region antigen binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 Lung(101;0.235) CCACCATTTTGGTCTCACCAC 0.448000 39 38 0 0 0.00222228 0 0 EZH1 2145 broad.mit.edu 37 17 40870572 40870572 + Silent SNP G A A rs144940655 TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr17:40870572G>A uc010wgu.2 - 7 885 c.849C>T c.(847-849)atC>atT p.I283I EZH1_uc002iaz.3_Silent_p.I277I|EZH1_uc002iba.3_Silent_p.I268I|EZH1_uc010wgt.2_Silent_p.I207I|EZH1_uc010wgv.2_Silent_p.I237I|EZH1_uc010wgw.2_Silent_p.I138I|EZH1_uc010cyp.2_Silent_p.I178I|EZH1_uc010cyq.2_Silent_p.I194I|EZH1_uc010cys.2_Silent_p.I228I|EZH1_uc010cyo.1_Intron|EZH1_uc010cyr.1_Intron NM_001991 NP_001982 Q92800 EZH1_HUMAN Homo sapiens enhancer of zeste homolog 1 (Drosophila) (EZH1), mRNA. 277 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|chromatin binding breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 27 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) TGGGGCCATCGATGTTGGGTG 0.502000 32 17 0 0 0.00121646 0 0 GRN 2896 broad.mit.edu 37 17 42426541 42426541 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr17:42426541C>T uc002igp.1 + 1 228 c.9C>T c.(7-9)acC>acT p.T3T GRN_uc002igq.1_Silent_p.T3T NM_002087 NP_002078 P28799 GRN_HUMAN Homo sapiens granulin (GRN), mRNA. 3 signal transduction extracellular space cytokine activity|growth factor activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) CCATGTGGACCCTGGTGAGCT 0.622000 35 28 0 0 0.00058488 0 0 CEP350 9857 broad.mit.edu 37 1 179991953 179991953 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:179991953C>T uc001gnt.3 + 12 3739 c.3356C>T c.(3355-3357)tCg>tTg p.S1119L CEP350_uc009wxl.2_Missense_Mutation_p.S1118L|CEP350_uc001gnu.3_Missense_Mutation_p.S953L NM_014810 NP_055625 Q5VT06 CE350_HUMAN Homo sapiens centrosomal protein 350kDa (CEP350), mRNA. 1119 Ser-rich. centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 ACTGGGACTTCGACAGAAAAA 0.403000 1 14 0 0 0.00244969 0 0 RP1 6101 broad.mit.edu 37 8 55542301 55542301 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:55542301G>A uc003xsd.1 + 3 6007 c.5859G>A c.(5857-5859)atG>atA p.M1953I RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 1953 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ATTTATGGATGAAAATACACC 0.333000 48 30 0 0 0.00283554 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140166773 140166773 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr5:140166773G>A uc003lhb.2 + 0 898 c.898G>A c.(898-900)Gga>Aga p.G300R PCDHAC2_uc003lha.2_Missense_Mutation_p.G300R|PCDHAC2_uc003lgz.3_Missense_Mutation_p.G300R NM_018900 NP_061723 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA. 315 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCCAGCTCAGGAGAAATTAG 0.368000 50 56 0 0 0.000781405 0 0 BAG4 9530 broad.mit.edu 37 8 38065273 38065273 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:38065273C>T uc003xky.2 + 2 904 c.622C>T c.(622-624)Ccg>Tcg p.P208S BAG4_uc003xkz.2_Missense_Mutation_p.P172S NM_004874 NP_004865 O95429 BAG4_HUMAN Homo sapiens BCL2-associated athanogene 4 (BAG4), transcript variant 1, mRNA. 208 anti-apoptosis|apoptosis|protein folding cytoplasm|nucleus receptor signaling protein activity breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1) 11 Colorectal(12;0.000442) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121) TCCAGGATATCCGCCTTCACA 0.478000 26 43 0 0 0.00222228 0 0 PRDM10 56980 broad.mit.edu 37 11 129814858 129814858 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr11:129814858G>A uc001qfm.3 - 5 802 c.570C>T c.(568-570)ggC>ggT p.G190G PRDM10_uc001qfj.3_Silent_p.G104G|PRDM10_uc001qfk.3_Silent_p.G104G|PRDM10_uc001qfl.3_Silent_p.G104G|PRDM10_uc010sbx.2_Silent_p.G104G|PRDM10_uc001qfn.3_Silent_p.G190G|PRDM10_uc009zct.1_Silent_p.G222G NM_020228 NP_064613 Q9NQV6 PRD10_HUMAN Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA. 190 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) GGTGCAAGGGGCCGTGCTTCG 0.587000 3 20 0 0 0.00121646 0 0 TYW1 55253 broad.mit.edu 37 7 66703421 66703421 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:66703421C>T uc003tvn.3 + 15 2253 c.2104C>T c.(2104-2106)Cac>Tac p.H702Y TYW1_uc010lai.3_Non-coding_Transcript|TYW1_uc011kef.2_Missense_Mutation_p.H316Y|PMS2P4_uc003tvo.2_Intron NM_018264 NP_060734 Q9NV66 TYW1_HUMAN Homo sapiens tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) (TYW1), mRNA. 702 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2) 46 Lung NSC(55;0.0846)|all_lung(88;0.183) CAGAACTCCTCACTGGGCATT 0.428000 48 57 0 0 0.000781405 0 0 SNAPC4 6621 broad.mit.edu 37 9 139272216 139272216 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr9:139272216G>A uc004chh.3 - 20 4072 c.4063C>T c.(4063-4065)Ctc>Ttc p.L1355F NM_003086 NP_003077 Q5SXM2 SNPC4_HUMAN Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA. 1355 SNAPC2-binding. snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) TTGTCCTGGAGCTGCCCCCGC 0.731000 9 13 0 0 0.00136819 0 0 DSP 1832 broad.mit.edu 37 6 7584759 7584759 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr6:7584759G>A uc003mxp.1 + 23 7543 c.7264G>A c.(7264-7266)Gaa>Aaa p.E2422K DSP_uc003mxq.1_Missense_Mutation_p.E1823K|DSP_uc021yle.1_Missense_Mutation_p.E1979K NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 2422 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CAACACTGAAGAAAATCTTAC 0.403000 59 99 0 0 0.000781405 0 0 RFX6 222546 broad.mit.edu 37 6 117245947 117245947 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr6:117245947G>A uc003pxm.3 + 14 1734 c.1671G>A c.(1669-1671)aaG>aaA p.K557K NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN Homo sapiens regulatory factor X, 6 (RFX6), mRNA. 557 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 AGTATATGAAGAATTCAGGTA 0.308000 5 12 0 0 0.00136819 0 0 ANO2 57101 broad.mit.edu 37 12 5963294 5963294 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:5963294C>T uc001qnm.2 - 3 608 c.536G>A c.(535-537)gGa>gAa p.G179E ANO2_uc021qtt.1_Missense_Mutation_p.G183E NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN Homo sapiens anoctamin 2 (ANO2), mRNA. 183 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 AAAGATGGATCCCTGGCTTTT 0.453000 82 132 0 0 0.000781405 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68140256 68140256 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:68140256C>T uc003xxo.2 - 24 3923 c.3533G>A c.(3532-3534)gGa>gAa p.G1178E ARFGEF1_uc003xxl.1_Missense_Mutation_p.G632E|ARFGEF1_uc003xxn.2_Missense_Mutation_p.G161E NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA. 1178 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) TCTTATTCTTCCCATGTTGTA 0.328000 78 9 0 0 0.000442599 0 0 OPRK1 4986 broad.mit.edu 37 8 54141918 54141918 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:54141918C>T uc003xrh.1 - 2 1457 c.1082G>A c.(1081-1083)cGa>cAa p.R361Q OPRK1_uc022aup.1_Missense_Mutation_p.R241Q|OPRK1_uc003xri.1_Missense_Mutation_p.R361Q|OPRK1_uc010lyc.1_Missense_Mutation_p.R272Q NM_000912 NP_000903 P41145 OPRK_HUMAN Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA. 361 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding p.R361Q(2) NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) AACTGTATTTCGGACTCTGCT 0.478000 63 57 0 0 0.000781405 0 0 CCDC8 83987 broad.mit.edu 37 19 46915027 46915027 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:46915027G>A uc002pep.3 - 0 1893 c.1041C>T c.(1039-1041)gcC>gcT p.A347A NM_032040 NP_114429 Q9H0W5 CCDC8_HUMAN Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA. 347 plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) CCTCAGCTGGGGCCCCTGCCC 0.627000 66 59 0 0 0.000781405 0 0 RSPH9 221421 broad.mit.edu 37 6 43638590 43638591 + Missense_Mutation DNP GG AA AA TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr6:43638590_43638591GG>AA uc003ovx.2 + 5 856_857 c.787_788GG>AA c.(787-789)ggg>AAg p.G263K RSPH9_uc003ovw.2_Missense_Mutation_p.G246S NM_001193341 NP_001180270 Q9H1X1 RSPH9_HUMAN Homo sapiens radial spoke head 9 homolog (Chlamydomonas) (RSPH9), transcript variant 2, mRNA. 0 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 TGCTCTGGCCGGGCCTCACCTT 0.594000 Kartagener syndrome 37 61 0 0 6.4e-05 0 0 MAK 4117 broad.mit.edu 37 6 10770427 10770427 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr6:10770427C>T uc021ylk.1 - 13 1991 c.1709G>A c.(1708-1710)gGa>gAa p.G570E SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Non-coding_Transcript|MAK_uc010jot.3_Non-coding_Transcript|MAK_uc010jou.3_Non-coding_Transcript|MAK_uc003mzm.3_Missense_Mutation_p.G545E|MAK_uc021yll.1_Intron NM_001242957 NP_001229886 P20794 MAK_HUMAN Homo sapiens male germ cell-associated kinase (MAK), transcript variant 3, mRNA. 545 cell differentiation|multicellular organismal development|spermatogenesis ATP binding|cyclin-dependent protein kinase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1) 22 Breast(50;0.107)|Ovarian(93;0.107) all_hematologic(90;0.117) AGGAATATATCCTGACTGATT 0.398000 51 87 0 0 0.000781405 0 0 NIPSNAP3B 55335 broad.mit.edu 37 9 107515294 107515294 + Missense_Mutation SNP G C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr9:107515294G>C uc004bch.1 + 2 484 c.379G>C c.(379-381)Gag>Cag p.E127Q NIPSNAP3B_uc011lvt.2_Missense_Mutation_p.E127Q|NIPSNAP3B_uc011lvu.1_Missense_Mutation_p.E127Q NM_015469 NP_056284 Q9BS92 NPS3B_HUMAN Homo sapiens nipsnap homolog 3A (C. elegans) (NIPSNAP3A), mRNA. 127 breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 11 ACAAGAGAGTGAGATTACTTA 0.373000 63 81 0 0 0.000781405 0 0 MYO7B 4648 broad.mit.edu 37 2 128324343 128324343 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:128324343C>T uc002top.3 + 4 464 c.411C>T c.(409-411)atC>atT p.I137I NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN Homo sapiens myosin VIIB (MYO7B), mRNA. 137 Myosin head-like. apical plasma membrane|myosin complex ATP binding|actin binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) TCTTTGCCATCGCCAACAACT 0.597000 11 5 0 0 0.00116845 0 0 ZNF177 7730 broad.mit.edu 37 19 9489680 9489680 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:9489680G>A uc021uon.1 + 2 237 c.76G>A c.(76-78)Gag>Aag p.E26K ZNF177_uc002mli.3_Missense_Mutation_p.E26K|ZNF177_uc002mlj.3_Missense_Mutation_p.E26K|ZNF177_uc002mlk.3_Missense_Mutation_p.E26K NM_001172651 NP_001166122 Q13360 ZN177_HUMAN Homo sapiens zinc finger protein 177 (ZNF177), transcript variant 1, mRNA. 26 KRAB. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2) 13 CTTTTCCCAGGAGGAGTGGGC 0.458000 59 20 0 0 0.00188189 0 0 KRT71 112802 broad.mit.edu 37 12 52940176 52940176 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:52940176C>T uc001sao.3 - 6 1289 c.1219G>A c.(1219-1221)Gag>Aag p.E407K NM_033448 NP_258259 Q3SY84 K2C71_HUMAN Homo sapiens keratin 71 (KRT71), mRNA. 407 Coil 2.|Rod. structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.194) CGCGCCAGCTCCTCCTTGGCC 0.652000 22 24 0 0 0.00229938 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112900676 112900676 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr9:112900676C>T uc004bei.2 + 8 3740 c.3548C>T c.(3547-3549)tCc>tTc p.S1183F PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.S951F|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.S951F|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.S761F|PALM2-AKAP2_uc011lwi.2_Missense_Mutation_p.S809F|PALM2-AKAP2_uc004bem.3_Missense_Mutation_p.S809F|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.S769F|PALM2-AKAP2_uc011lwj.2_Missense_Mutation_p.S720F|PALM2-AKAP2_uc004ben.3_Missense_Mutation_p.S720F NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA. 720 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 CGGACTTTGTCCATGATTGAG 0.542000 69 27 0 0 0.000720815 0 0 SERPINB2 5055 broad.mit.edu 37 18 61602223 61602224 + Missense_Mutation DNP CC TT TT TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr18:61602223_61602224CC>TT uc010xev.2 + 7 1031_1032 c.941_942CC>TT c.(940-942)gcc>gTT p.A314V SERPINB2_uc010xew.2_Missense_Mutation_p.A314V NM_005024 NP_005015 P05120 PAI2_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA. 332 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis Golgi apparatus|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) ATGAGTGATGCCTTCAGCCAAA 0.416000 30 17 0 0 6.4e-05 0 0 RYR1 6261 broad.mit.edu 37 19 39001408 39001408 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:39001408G>A uc002oit.3 + 59 9239 c.9109G>A c.(9109-9111)Gaa>Aaa p.E3037K RYR1_uc002oiu.3_Missense_Mutation_p.E3037K|RYR1_uc002oiv.1_5'UTR|RYR1_uc010xuf.1_5'Flank NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 3037 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CAAGGAGAAGGAAATGATCAC 0.577000 28 33 0 0 0.00209593 0 0 SLC2A10 81031 broad.mit.edu 37 20 45354013 45354013 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr20:45354013C>T uc002xsl.3 + 1 435 c.338C>T c.(337-339)tCc>tTc p.S113F NM_030777 NP_110404 O95528 GTR10_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA. 113 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) TTCGCCATTTCCCTCTCCTCC 0.662000 72 44 0 0 0.00222228 0 0 RHBDF1 64285 broad.mit.edu 37 16 108679 108679 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr16:108679C>T uc002cfl.4 - 17 2371 c.2228G>A c.(2227-2229)cGg>cAg p.R743Q NM_022450 NP_071895 Q96CC6 RHDF1_HUMAN Homo sapiens rhomboid 5 homolog 1 (Drosophila) (RHBDF1), mRNA. 743 cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process Golgi membrane|endoplasmic reticulum membrane|integral to membrane growth factor binding|serine-type endopeptidase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 18 all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159) ACGCCAGGGCCGCGCCAGGAT 0.622000 29 12 0 0 0.000978159 0 0 SPTB 6710 broad.mit.edu 37 14 65262067 65262067 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr14:65262067C>T uc001xht.3 - 10 1683 c.1632G>A c.(1630-1632)atG>atA p.M544I SPTB_uc001xhr.3_Missense_Mutation_p.M544I|SPTB_uc001xhs.3_Missense_Mutation_p.M544I|SPTB_uc001xhu.3_Missense_Mutation_p.M544I NM_000347 NP_000338 P11277 SPTB1_HUMAN Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA. 544 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TGATCTCATCCATCCAGTCGA 0.632000 18 4 0 0 0.00116845 0 0 ASXL1 171023 broad.mit.edu 37 20 31024332 31024332 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr20:31024332C>T uc021wbw.1 + 12 4249 c.3817C>T c.(3817-3819)Cgt>Tgt p.R1273C ASXL1_uc002wxs.3_Missense_Mutation_p.R1272C|ASXL1_uc010geb.3_Missense_Mutation_p.R1164C NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA. 1273 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding p.(574_1542)fs*?(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 GAGAACACCTCGTTTCTCATC 0.493000 """F, N, Mis""" """MDS, CMML""" 41 48 0 0 0.000781405 0 0 ZNF287 57336 broad.mit.edu 37 17 16456253 16456253 + Silent SNP A G G TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr17:16456253A>G uc021trd.1 - 5 1821 c.1203T>C c.(1201-1203)tgT>tgC p.C401C ZNF287_uc002gqi.2_Silent_p.C401C NM_020653 NP_065704 Q9HBT7 ZN287_HUMAN Homo sapiens zinc finger protein 287 (ZNF287), mRNA. 394 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) ACTCTTTCCCACATTCTTCAC 0.418000 93 26 0 0 0.00178596 0 0 DQX1 165545 broad.mit.edu 37 2 74746338 74746338 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:74746338C>T uc010yrw.2 - 10 1991 c.1826G>A c.(1825-1827)gGg>gAg p.G609E DQX1_uc002smc.3_Missense_Mutation_p.G170E NM_133637 NP_598376 Q8TE96 DQX1_HUMAN Homo sapiens DEAQ box RNA-dependent ATPase 1 (DQX1), mRNA. 609 nucleus ATP binding|helicase activity|nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 18 ATTTCCAGTCCCGTCTGTGTC 0.488000 26 8 0 0 0.000274275 0 0 CRLF1 9244 broad.mit.edu 37 19 18710594 18710594 + Missense_Mutation SNP A G G TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:18710594A>G uc010ebt.2 - 1 372 c.178T>C c.(178-180)Tgc>Cgc p.C60R NM_004750 NP_004741 O75462 CRLF1_HUMAN Homo sapiens cytokine receptor-like factor 1 (CRLF1), mRNA. 60 Ig-like C2-type. negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein extracellular space cytokine binding|protein heterodimerization activity|receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 9 TGCACTGAGCAGGTGGCCAGC 0.667000 9 4 0 0 0.00024832 0 0 XKR3 150165 broad.mit.edu 37 22 17280873 17280873 + Missense_Mutation SNP T C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr22:17280873T>C uc002zlv.3 - 2 475 c.377A>G c.(376-378)aAt>aGt p.N126S XKR3_uc011agf.2_Missense_Mutation_p.N126S NM_175878 NP_787074 Q5GH77 XKR3_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA. 126 integral to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CTGTTTAAGATTTTTCAACCA 0.368000 53 38 0 0 0.000814825 0 0 MAP3K6 9064 broad.mit.edu 37 1 27690531 27690531 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:27690531C>T uc001bny.1 - 4 990 c.741G>A c.(739-741)cgG>cgA p.R247R MAP3K6_uc009vsw.1_Silent_p.R239R|MAP3K6_uc001bnz.1_5'Flank NM_004672 NP_004663 O95382 M3K6_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 6 (MAP3K6), mRNA. 247 activation of JUN kinase activity ATP binding|MAP kinase kinase kinase activity|magnesium ion binding breast(4)|central_nervous_system(2)|lung(3)|ovary(1) 10 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) TGAACCGCTCCCGCGCCTGCC 0.652000 15 16 0 0 0.000422831 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72205735 72205735 + Splice_Site SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr14:72205735G>A uc001xms.3 + 22 5633 c.5272_splice c.e22-1 p.E1758_splice SIPA1L1_uc001xmt.3_Splice_Site_p.E1737_splice|SIPA1L1_uc001xmu.3_Splice_Site_p.E1736_splice|SIPA1L1_uc001xmv.3_Splice_Site_p.E1757_splice|SIPA1L1_uc010ttm.2_Splice_Site_p.E1211_splice|DKFZp686G1344_uc021rvu.1_5'Flank NM_015556 NP_056371 O43166 SI1L1_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA. 1758 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) TGCCTCCCAGGAAAAAGAAGA 0.527000 19 11 0 0 0.000978159 0 0 ZNF208 7757 broad.mit.edu 37 19 22156988 22156988 + Missense_Mutation SNP T G G TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:22156988T>G uc021urr.1 - 3 997 c.848A>C c.(847-849)aAa>aCa p.K283T ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 Homo sapiens zinc finger protein 208 (ZNF208), mRNA. breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TTTGTTGGGTTTCTCTCCAGT 0.378000 16 12 0 0 0.000978159 0 0 DSCAML1 57453 broad.mit.edu 37 11 117389342 117389342 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr11:117389342C>T uc001prh.1 - 6 1531 c.1529G>A c.(1528-1530)cGg>cAg p.R510Q DSCAML1_uc001pri.1_Missense_Mutation_p.R314Q NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA. 450 Ig-like C2-type 6. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity p.V509M(1) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GCTGCCATCCCGCACGATGGG 0.672000 21 9 0 0 0.000274275 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520498 33520498 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr17:33520498C>T uc002hjd.2 - 0 915 c.829G>A c.(829-831)Gcc>Acc p.A277T NM_152462 NP_689675 Q8N808 AMAC1_HUMAN Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA. 277 DUF6 2. integral to membrane GCAGGGTGGGCCTTGGTGACC 0.577000 104 32 0 0 0.00283554 0 0 JPH3 57338 broad.mit.edu 37 16 87678092 87678092 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr16:87678092C>T uc002fkd.3 + 1 865 c.611C>T c.(610-612)tCc>tTc p.S204F JPH3_uc010vou.1_Non-coding_Transcript NM_020655 NP_065706 Q8WXH2 JPH3_HUMAN Homo sapiens junctophilin 3 (JPH3), mRNA. 204 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(80;0.0287) CACAGTGACTCCGAGATCCTC 0.682000 27 25 0 0 0.00106085 0 0 RFX6 222546 broad.mit.edu 37 6 117246782 117246782 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr6:117246782C>T uc003pxm.3 + 15 1908 c.1845C>T c.(1843-1845)caC>caT p.H615H NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN Homo sapiens regulatory factor X, 6 (RFX6), mRNA. 615 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 CTGCTCTGCACCAGTTCCCTG 0.542000 5 16 0 0 0.000422831 0 0 GRM8 2918 broad.mit.edu 37 7 126544086 126544086 + Nonsense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:126544086G>A uc003vlr.2 - 3 1269 c.958C>T c.(958-960)Cag>Tag p.Q320* GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Nonsense_Mutation_p.Q320*|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_Nonsense_Mutation_p.Q41* NM_000845 NP_000836 O00222 GRM8_HUMAN Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA. 320 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) TCCTCTTGCTGATAGACAGGT 0.423000 HNSCC(24;0.065) 69 33 0 0 0.000781405 0 0 APOBR 55911 broad.mit.edu 37 16 28509265 28509265 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr16:28509265C>T uc002dqb.2 + 1 2936 c.2903C>T c.(2902-2904)aCg>aTg p.T968M NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_Missense_Mutation_p.T497M NM_018690 NP_061160 Q0VD83 APOBR_HUMAN Homo sapiens apolipoprotein B receptor (APOBR), mRNA. 959 cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1) 29 GAAGCCGAGACGGCTGAGGCC 0.652000 24 7 0 0 0.00198382 0 0 TIAM2 26230 broad.mit.edu 37 6 155469324 155469324 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr6:155469324G>A uc003qqb.3 + 8 3157 c.1884G>A c.(1882-1884)ggG>ggA p.G628G TIAM2_uc003qqe.3_Silent_p.G628G|TIAM2_uc010kjj.3_Silent_p.G161G|TIAM2_uc003qqf.3_5'UTR|TIAM2_uc011efl.1_5'Flank|TIAM2_uc003qqg.3_5'Flank NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA. 628 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity p.G628E(1) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) AGAAGCATGGGAAAGAGGACA 0.507000 20 56 0 0 0.000781405 0 0 LAG3 3902 broad.mit.edu 37 12 6887035 6887035 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:6887035C>T uc001qqt.4 + 6 1728 c.1379C>T c.(1378-1380)tCt>tTt p.S460F LAG3_uc001qqu.3_Missense_Mutation_p.S290F NM_002286 NP_002277 P18627 LAG3_HUMAN Homo sapiens lymphocyte-activation gene 3 (LAG3), mRNA. 460 integral to membrane MHC class II protein binding|antigen binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 GGTGTCCTTTCTCTGCTCCTT 0.592000 89 27 0 0 0.001512 0 0 ZHX2 22882 broad.mit.edu 37 8 123964338 123964338 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:123964338C>T uc022bag.1 + 0 588 c.588C>T c.(586-588)gcC>gcT p.A196A ZHX2_uc003ypk.1_Silent_p.A196A NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA. 196 Required for homodimerization. cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) AAGCGGATGCCAAGAAGGTGC 0.577000 143 25 0 0 0.000720815 0 0 IRX5 10265 broad.mit.edu 37 16 54967445 54967445 + Missense_Mutation SNP T C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr16:54967445T>C uc002ehv.3 + 2 1112 c.1112T>C c.(1111-1113)cTa>cCa p.L371P IRX5_uc021tin.1_Missense_Mutation_p.L370P|IRX5_uc002ehw.3_Missense_Mutation_p.L305P NM_005853 NP_005844 P78411 IRX5_HUMAN Homo sapiens iroquois homeobox 5 (IRX5), transcript variant 1, mRNA. 371 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding kidney(3)|large_intestine(6)|lung(4)|prostate(1) 14 GGGCAAGCCCTAGGAGGCAGC 0.716000 16 6 0 0 0.00198382 0 0 FRMD6 122786 broad.mit.edu 37 14 52179241 52179242 + Nonsense_Mutation DNP GG AA AA TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr14:52179241_52179242GG>AA uc001wzd.3 + 8 1106_1107 c.821_822GG>AA c.(820-822)tgg>tAA p.W274* FRMD6_uc001wzb.3_Nonsense_Mutation_p.W266*|FRMD6_uc001wzc.3_Nonsense_Mutation_p.W266*|FRMD6_uc001wze.3_Nonsense_Mutation_p.W197*|FRMD6_uc001wzf.3_5'Flank NM_152330 NP_689543 Q96NE9 FRMD6_HUMAN Homo sapiens FERM domain containing 6 (FRMD6), transcript variant 2, mRNA. 274 FERM. cytoskeleton|mitochondrion|plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_epithelial(31;0.0163)|Breast(41;0.089) GATTTCCCCTGGACAAATGTTG 0.292000 25 7 0 0 6.4e-05 0 0 LRRC18 474354 broad.mit.edu 37 10 50121774 50121774 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr10:50121774G>A uc001jhd.3 - 0 507 c.427C>T c.(427-429)Ctg>Ttg p.L143L WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Silent_p.L143L NM_001006939 NP_001006940 Q8N456 LRC18_HUMAN Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA. 143 cytoplasm NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 AGCTCCTTCAGGGCCCCCAGT 0.577000 9 9 0 0 0.000442599 0 0 SPAM1 6677 broad.mit.edu 37 7 123593820 123593820 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:123593820G>A uc003vle.3 + 2 635 c.196G>A c.(196-198)Gag>Aag p.E66K SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.E66K|SPAM1_uc022aks.1_Missense_Mutation_p.E66K|SPAM1_uc003vlf.4_Missense_Mutation_p.E66K|SPAM1_uc010lku.3_Missense_Mutation_p.E66K NM_003117 NP_003108 P38567 HYALP_HUMAN Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA. 66 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) AAAATTTGATGAGCCACTAGA 0.438000 34 18 0 0 0.00074312 0 0 MIB1 57534 broad.mit.edu 37 18 19424141 19424141 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr18:19424141C>T uc002ktq.3 + 14 2138 c.2138C>T c.(2137-2139)tCt>tTt p.S713F MIB1_uc002ktp.3_Missense_Mutation_p.S352F NM_020774 NP_065825 Q86YT6 MIB1_HUMAN Homo sapiens mindbomb homolog 1 (Drosophila) (MIB1), mRNA. 713 Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5) 27 STAD - Stomach adenocarcinoma(5;0.212) CACACTTTGTCTCAGCTACGT 0.463000 57 45 0 0 0.000781405 0 0 GMIP 51291 broad.mit.edu 37 19 19747524 19747524 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:19747524G>A uc002nnd.3 - 12 1436 c.1319C>T c.(1318-1320)tCc>tTc p.S440F GMIP_uc010xrb.2_Missense_Mutation_p.S440F|GMIP_uc010xrc.2_Missense_Mutation_p.S437F NM_016573 NP_057657 Q9P107 GMIP_HUMAN Homo sapiens GEM interacting protein (GMIP), mRNA. 440 negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity|metal ion binding|protein binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 ACCTGGGCTGGAAGTGGGTGA 0.612000 32 21 0 0 0.00047179 0 0 IGLL1 3543 broad.mit.edu 37 22 23915751 23915751 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr22:23915751G>A uc002zxd.3 - 2 462 c.344C>T c.(343-345)tCg>tTg p.S115L IGLL1_uc002zxe.3_Silent_p.L76L NM_020070 NP_064455 P15814 IGLL1_HUMAN Homo sapiens immunoglobulin lambda-like polypeptide 1 (IGLL1), transcript variant 1, mRNA. 115 C region (By similarity to lambda light- chain).|Ig-like C1-type. immune response extracellular region|membrane kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1) 12 CAGAGTGACCGAGGGGGTGGC 0.577000 29 25 0 0 0.000720815 0 0 GIGYF2 26058 broad.mit.edu 37 2 233613726 233613726 + Silent SNP T C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:233613726T>C uc002vtj.4 + 5 468 c.201T>C c.(199-201)ttT>ttC p.F67F GIGYF2_uc010zmj.1_Silent_p.F67F|GIGYF2_uc002vtg.2_Silent_p.F67F|GIGYF2_uc002vti.4_Silent_p.F67F|GIGYF2_uc002vtk.4_Silent_p.F67F|GIGYF2_uc002vth.4_Silent_p.F67F|GIGYF2_uc010zmk.2_Non-coding_Transcript NM_001103147 NP_001096617 Q6Y7W6 PERQ2_HUMAN Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA. 67 cell death protein binding p.E66*(2) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) ATAAAGAATTTCTGCCTATCC 0.408000 121 142 0 0 0.000781405 0 0 ZNF527 84503 broad.mit.edu 37 19 37871224 37871224 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:37871224G>A uc010efk.1 + 3 317 c.206G>A c.(205-207)gGg>gAg p.G69E ZNF527_uc002ogf.3_Intron|ZNF527_uc010xtq.1_Non-coding_Transcript|ZNF527_uc002oge.3_Missense_Mutation_p.G69E NM_032453 NP_115829 Q8NB42 ZN527_HUMAN Homo sapiens zinc finger protein 527 (ZNF527), mRNA. 69 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTGGAGCAAGGGAAGGAACCG 0.483000 44 12 0 0 0.00185496 0 0 FRG2B 441581 broad.mit.edu 37 10 135440205 135440205 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr10:135440205G>A uc010qvg.2 - 0 95 c.42C>T c.(40-42)tcC>tcT p.S14S NM_001080998 NP_001074467 Q96QU4 FRG2B_HUMAN Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA. 14 nucleus endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1) 20 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) AGCACTGGATGGAGGAGCAGT 0.507000 191 26 0 0 0.00128727 0 0 SNX25 83891 broad.mit.edu 37 4 186244723 186244723 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr4:186244723C>T uc003ixh.3 + 8 1215 c.1026C>T c.(1024-1026)ttC>ttT p.F342F SNX25_uc010ish.3_Silent_p.F113F|SNX25_uc003ixi.3_5'UTR NM_031953 NP_114159 Q9H3E2 SNX25_HUMAN Homo sapiens sorting nexin 25 (SNX25), mRNA. 342 RGS. cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2) 40 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) ATCAGAATTTCTTTGTGGAGA 0.303000 57 40 0 0 0.00170553 0 0 SLC22A6 9356 broad.mit.edu 37 11 62752150 62752150 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr11:62752150C>T uc001nwk.3 - 0 346 c.13G>A c.(13-15)Gac>Aac p.D5N SLC22A6_uc001nwl.3_Missense_Mutation_p.D5N|SLC22A6_uc001nwj.3_Missense_Mutation_p.D5N|SLC22A6_uc001nwm.3_Missense_Mutation_p.D5N NM_004790 NP_004781 Q4U2R8 S22A6_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA. 5 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 TGCAGGAGGTCATTAAAGGCC 0.647000 6 15 0 0 0.000566183 0 0 ALPI 248 broad.mit.edu 37 2 233323081 233323081 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:233323081C>T uc002vst.4 + 8 1223 c.1146C>T c.(1144-1146)tcC>tcT p.S382S ALPI_uc002vsu.4_Silent_p.S293S NM_001631 NP_001622 P09923 PPBI_HUMAN Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA. 382 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding p.S382S(2) NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) ATGTCTTCTCCTTTGGTGGCT 0.597000 9 11 0 0 0.000978159 0 0 MET 4233 broad.mit.edu 37 7 116339776 116339776 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:116339776C>T uc003vij.3 + 1 825 c.638C>T c.(637-639)tCg>tTg p.S213L MET_uc022akk.1_Missense_Mutation_p.S213L|MET_uc010lkh.3_Missense_Mutation_p.S213L|MET_uc011knc.1_Missense_Mutation_p.S213L|MET_uc011knd.2_Missense_Mutation_p.S213L|MET_uc011knf.2_Missense_Mutation_p.S213L|MET_uc011kne.2_Missense_Mutation_p.S213L|MET_uc011kng.1_Missense_Mutation_p.S213L|MET_uc011knh.1_Missense_Mutation_p.S213L|MET_uc011kni.2_Missense_Mutation_p.S213L|MET_uc003vii.1_Missense_Mutation_p.S232L|MET_uc010lkg.3_Missense_Mutation_p.S213L|MET_uc011kmz.1_Missense_Mutation_p.S213L|MET_uc011kna.1_Missense_Mutation_p.S213L|MET_uc011knb.1_Missense_Mutation_p.S213L NM_000245 NP_000236 P08581 MET_HUMAN Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA. 213 Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding p.S213L(2) NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) CCATTGCATTCGATATCAGTG 0.403000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 112 64 0 0 0.000781405 0 0 ZNF479 90827 broad.mit.edu 37 7 57187836 57187836 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:57187836C>T uc010kzo.3 - 4 1557 c.1286G>A c.(1285-1287)aGa>aAa p.R429K NM_033273 NP_150376 Q96JC4 ZN479_HUMAN Homo sapiens zinc finger protein 479 (ZNF479), mRNA. 429 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) AGTATGAATTCTCTTGTGGTC 0.433000 61 6 0 0 0.000673444 0 0 SYNE1 23345 broad.mit.edu 37 6 152621837 152621837 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr6:152621837G>A uc021zhb.1 - 90 17844 c.17621C>T c.(17620-17622)tCc>tTc p.S5874F SYNE1_uc003qos.4_Missense_Mutation_p.S398F|SYNE1_uc003qot.4_Missense_Mutation_p.S5803F|SYNE1_uc003qou.4_Missense_Mutation_p.S5874F|SYNE1_uc010kiy.1_Intron NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 5874 Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGGTGGAGAGGAAATCTCACT 0.532000 HNSCC(10;0.0054) 7 32 0 0 0.0024448 0 0 TXNDC16 57544 broad.mit.edu 37 14 52957711 52957711 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr14:52957711C>T uc001wzs.3 - 9 1218 c.769G>A c.(769-771)Gaa>Aaa p.E257K TXNDC16_uc010tqu.2_Missense_Mutation_p.E252K|TXNDC16_uc010aoe.3_Non-coding_Transcript NM_020784 NP_065835 Q9P2K2 TXD16_HUMAN Homo sapiens thioredoxin domain containing 16 (TXNDC16), transcript variant 1, mRNA. 257 cell redox homeostasis extracellular region breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1) 21 Breast(41;0.0716) TGAGGATCTTCAGCAACTTCA 0.333000 12 9 0 0 0.000978159 0 0 TRPC3 7222 broad.mit.edu 37 4 122846271 122846271 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr4:122846271G>A uc003ieg.2 - 2 1152 c.1078C>T c.(1078-1080)Ctg>Ttg p.L360L TRPC3_uc010inr.2_Silent_p.L287L|TRPC3_uc003ief.2_Silent_p.L287L|TRPC3_uc011cgl.1_Silent_p.L24L NM_001130698 NP_001124170 Q13507 TRPC3_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA. 275 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 TCTCCATTCAGAATGGCTTCT 0.448000 76 61 0 0 0.000781405 0 0 EXOC3 11336 broad.mit.edu 37 5 462278 462278 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr5:462278C>T uc003jba.3 + 8 1637 c.1509C>T c.(1507-1509)tcC>tcT p.S503S NM_007277 NP_009208 O60645 EXOC3_HUMAN Homo sapiens exocyst complex component 3 (EXOC3), mRNA. 514 exocytosis|protein transport breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1) 23 Ovarian(839;0.0563) Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) GCAGGGAATCCATAGTCAGTT 0.562000 16 22 0 0 0.00188189 0 0 MS4A1 931 broad.mit.edu 37 11 60230551 60230551 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr11:60230551C>T uc009yna.3 + 2 563 c.236C>T c.(235-237)cCc>cTc p.P79L MS4A1_uc009ymy.1_Missense_Mutation_p.P79L|MS4A1_uc009ymz.3_Missense_Mutation_p.P79L|MS4A1_uc010rlc.2_Intron|MS4A1_uc001npp.3_Missense_Mutation_p.P79L|MS4A1_uc001npq.3_Missense_Mutation_p.P79L NM_152866 NP_690605 P11836 CD20_HUMAN Homo sapiens membrane-spanning 4-domains, subfamily A, member 1 (MS4A1), transcript variant 1, mRNA. 79 Epitope 1. B cell activation|immune response integral to plasma membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081) ATCTATGCACCCATCTGTGTG 0.507000 21 54 0 0 0.000781405 0 0 KCNH2 3757 broad.mit.edu 37 7 150648062 150648062 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:150648062C>T uc003wic.3 - 7 2493 c.2092G>A c.(2092-2094)Gag>Aag p.E698K KCNH2_uc003wib.3_Missense_Mutation_p.E358K|KCNH2_uc011kux.2_Missense_Mutation_p.E602K|KCNH2_uc003wid.3_Missense_Mutation_p.E358K|KCNH2_uc003wie.3_Missense_Mutation_p.E698K NM_000238 NP_000229 Q12809 KCNH2_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA. 698 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) AAGTACTCCTCGAGGCGCTGG 0.652000 34 20 0 0 0.00278032 0 0 ZNF318 24149 broad.mit.edu 37 6 43322813 43322813 + Silent SNP T A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr6:43322813T>A uc003oux.3 - 3 2337 c.2259A>T c.(2257-2259)ccA>ccT p.P753P ZNF318_uc003ouw.3_Non-coding_Transcript NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN Homo sapiens zinc finger protein 318 (ZNF318), mRNA. 753 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CAGCAGTGTGTGGAAGTCTAA 0.532000 113 41 0 0 0.00222228 0 0 NPHP4 261734 broad.mit.edu 37 1 5937187 5937187 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:5937187C>T uc001alq.2 - 19 3051 c.2783G>A c.(2782-2784)gGg>gAg p.G928E NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Non-coding_Transcript|NPHP4_uc001alt.2_Non-coding_Transcript NM_015102 NP_055917 O75161 NPHP4_HUMAN Homo sapiens nephronophthisis 4 (NPHP4), mRNA. 928 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4) 47 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) CAAGTCTCCCCCGGCCTCCTG 0.662000 13 3 0 0 0.000602214 0 0 LRRC8A 56262 broad.mit.edu 37 9 131669831 131669831 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr9:131669831C>T uc004bwl.4 + 2 642 c.388C>T c.(388-390)Ctt>Ttt p.L130F LRRC8A_uc010myp.3_Missense_Mutation_p.L130F|LRRC8A_uc010myq.3_Missense_Mutation_p.L130F NM_019594 NP_062540 Q8IWT6 LRC8A_HUMAN Homo sapiens leucine rich repeat containing 8 family, member A (LRRC8A), transcript variant 2, mRNA. 130 pre-B cell differentiation integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 CTACCTGGTGCTTCTGCACAC 0.542000 43 16 0 0 0.000566183 0 0 KLF3 51274 broad.mit.edu 37 4 38690514 38690514 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr4:38690514C>T uc003gth.4 + 2 698 c.366C>T c.(364-366)tcC>tcT p.S122S KLF3_uc003gtg.2_Silent_p.S122S NM_016531 NP_057615 P57682 KLF3_HUMAN Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA. 122 Pro-rich. multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 18 TGCCGCTGTCCATGCCACCAG 0.637000 29 33 0 0 0.0024448 0 0 MTMR7 9108 broad.mit.edu 37 8 17206511 17206511 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:17206511C>T uc003wxm.3 - 4 787 c.548G>A c.(547-549)cGg>cAg p.R183Q MTMR7_uc003wxn.3_5'UTR NM_004686 NP_004677 Q9Y216 MTMR7_HUMAN Homo sapiens myotubularin related protein 7 (MTMR7), mRNA. 183 Myotubularin phosphatase. protein tyrosine phosphatase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 32 Colorectal(111;0.112) CCGTCTACTCCGGAATTTGGA 0.423000 97 79 0 0 0.000781405 0 0 RPN2 6185 broad.mit.edu 37 20 35833295 35833295 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr20:35833295C>T uc002xgp.3 + 5 985 c.681C>T c.(679-681)tcC>tcT p.S227S RPN2_uc010gfw.2_Silent_p.S70S|RPN2_uc002xgq.3_Silent_p.S195S|RPN2_uc021wdb.1_Silent_p.S9S NM_002951 NP_002942 P04844 RPN2_HUMAN Homo sapiens ribophorin II (RPN2), transcript variant 1, mRNA. 227 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|nucleus|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1) 24 Myeloproliferative disorder(115;0.00878) CTGAGCCATCCATTAAGGAGG 0.468000 84 44 0 0 0.000781405 0 0 TAS1R3 83756 broad.mit.edu 37 1 1267914 1267915 + Missense_Mutation DNP CC TT TT rs141843729 TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:1267914_1267915CC>TT uc010nyk.2 + 2 1003_1004 c.1003_1004CC>TT c.(1003-1005)ccc>TTc p.P335F NM_152228 NP_689414 Q7RTX0 TS1R3_HUMAN Homo sapiens taste receptor, type 1, member 3 (TAS1R3), mRNA. 335 detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) GCACGAGTTCCCCCAGTACGTG 0.693000 13 11 0 0 6.4e-05 0 0 HMGB4 127540 broad.mit.edu 37 1 34330176 34330176 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:34330176G>A uc021oky.1 + 0 384 c.384G>A c.(382-384)ggG>ggA p.G128G CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxp.3_Silent_p.G128G|HMGB4_uc001bxq.3_Silent_p.G54G NM_145205 NP_660206 B2R4X7 B2R4X7_HUMAN Homo sapiens high mobility group box 4 (HMGB4), transcript variant 1, mRNA. 128 nucleus DNA binding NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) AGGCCACAGGGAAGATGTGGT 0.542000 43 10 0 0 0.000673444 0 0 FAM49A 81553 broad.mit.edu 37 2 16743311 16743311 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:16743311C>T uc010exm.2 - 4 545 c.397G>A c.(397-399)Gaa>Aaa p.E133K FAM49A_uc002rck.2_Missense_Mutation_p.E133K NM_030797 NP_110424 Q9H0Q0 FA49A_HUMAN Homo sapiens family with sequence similarity 49, member A (FAM49A), mRNA. 133 intracellular breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088) GBM - Glioblastoma multiforme(3;0.00969) TGTAAAATTTCGGCAAACTCC 0.423000 27 19 0 0 0.00074312 0 0 APLP1 333 broad.mit.edu 37 19 36369819 36369819 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:36369819C>T uc002oce.3 + 14 1813 c.1675C>T c.(1675-1677)Cct>Tct p.P559S APLP1_uc010xsz.2_Missense_Mutation_p.P520S|APLP1_uc002ocf.3_Missense_Mutation_p.P560S|APLP1_uc002ocg.3_Missense_Mutation_p.P463S|APLP1_uc010xta.2_Missense_Mutation_p.P553S NM_005166 NP_005157 P51693 APLP1_HUMAN Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA. 559 apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AAGGGGTTTCCCTTTCCACTC 0.587000 38 39 0 0 0.00195071 0 0 PXDN 7837 broad.mit.edu 37 2 1642681 1642682 + Missense_Mutation DNP CC TT TT TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:1642681_1642682CC>TT uc002qxa.3 - 20 4206_4207 c.4142_4143GG>AA c.(4141-4143)ggg>gAA p.G1381E NM_012293 NP_036425 Q92626 PXDN_HUMAN Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA. 1381 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) AGTCATTTGTCCCAGATGCATC 0.550000 32 16 0 0 6.4e-05 0 0 EXO1 9156 broad.mit.edu 37 1 242042408 242042408 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:242042408C>T uc021plj.1 + 10 2186 c.1872C>T c.(1870-1872)ccC>ccT p.P624P EXO1_uc001hzh.3_Silent_p.P624P|EXO1_uc009xgq.3_Silent_p.P623P|EXO1_uc021plk.1_Silent_p.P624P NM_006027 NP_569082 Q9UQ84 EXO1_HUMAN Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA. 624 Interaction with MSH2. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2) 45 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) CGCCGAGCCCCTCTCCAAGCA 0.473000 Editing and processing nucleases 11 99 0 0 0.000781405 0 0 LTN1 26046 broad.mit.edu 37 21 30332977 30332977 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr21:30332977C>T uc002ymr.2 - 11 2366 c.2353G>A c.(2353-2355)Gat>Aat p.D785N NM_015565 NP_056380 O94822 LTN1_HUMAN Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA. 739 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 CCAAGGATATCGCCTTTGAGC 0.383000 15 7 0 0 0.000442599 0 0 RUNDC3B 154661 broad.mit.edu 37 7 87399955 87399955 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:87399955G>A uc003ujb.3 + 7 1150 c.739G>A c.(739-741)Gaa>Aaa p.E247K RUNDC3B_uc011khd.1_Missense_Mutation_p.E230K|RUNDC3B_uc011khe.2_Missense_Mutation_p.E230K|RUNDC3B_uc003ujc.3_Missense_Mutation_p.E230K|RUNDC3B_uc003ujd.3_Missense_Mutation_p.E152K NM_138290 NP_612147 Q96NL0 RUN3B_HUMAN Homo sapiens RUN domain containing 3B (RUNDC3B), transcript variant 1, mRNA. 247 p.E247K(2) breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2) 26 Esophageal squamous(14;0.00164) CAGTGGTAGCGAAAGCAGTAC 0.398000 15 25 0 0 0.00278032 0 0 C4orf22 255119 broad.mit.edu 37 4 81866034 81866034 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr4:81866034C>T uc010ijp.3 + 5 647 c.598C>T c.(598-600)Cca>Tca p.P200S C4orf22_uc003hmf.3_Missense_Mutation_p.P183S NM_001206997 NP_001193926 Q6V702 CD022_HUMAN Homo sapiens chromosome 4 open reading frame 22 (C4orf22), transcript variant 1, mRNA. 183 NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5) 15 TGCCGATAATCCAGAAGGCTT 0.328000 52 37 0 0 0.000814825 0 0 WRAP53 55135 broad.mit.edu 37 17 7606160 7606160 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr17:7606160G>A uc010vuh.2 + 8 1419 c.1264G>A c.(1264-1266)Gac>Aac p.D422N WRAP53_uc010vui.2_Missense_Mutation_p.D422N|WRAP53_uc002gip.3_Missense_Mutation_p.D422N|WRAP53_uc002gir.3_Missense_Mutation_p.D422N|WRAP53_uc002giq.3_Non-coding_Transcript|WRAP53_uc010cnl.3_Missense_Mutation_p.D389N|EFNB3_uc002gis.3_5'Flank NM_001143990 NP_060551 Q9BUR4 WAP53_HUMAN Homo sapiens WD repeat containing, antisense to TP53 (WRAP53), transcript variant 2, mRNA. 422 positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex RNA binding|protein binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2) 18 CTTCGATCTGGACCCGTGAGT 0.602000 24 10 0 0 0.000442599 0 0 KIR2DL2 3803 broad.mit.edu 37 GL000209.1 120503 120504 + Missense_Mutation DNP GG AA AA TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chrGL000209.1:120503_120504GG>AA uc010yie.2 + 3 466_467 c.455_456GG>AA c.(454-456)cgg>cAA p.R152Q KIR2DL2_uc021vdc.1_Intron|KIR2DL2_uc021vdd.1_Intron|KIR2DL2_uc002qty.3_Missense_Mutation_p.R149Q|KIR2DL2_uc002qum.3_Missense_Mutation_p.R152Q NM_014512 NP_055327 P43627 KI2L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 (KIR2DS1), mRNA. 152 Ig-like C2-type 2. regulation of immune response integral to membrane|plasma membrane receptor activity TGCAGCTCCCGGAGCTCCTATG 0.569000 62 66 0 0 6.4e-05 0 0 HK3 3101 broad.mit.edu 37 5 176311076 176311076 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr5:176311076G>A uc003mfa.3 - 13 2009 c.1917C>T c.(1915-1917)gtC>gtT p.V639V HK3_uc003mez.3_Silent_p.V195V NM_002115 NP_002106 P52790 HXK3_HUMAN Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA. 639 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACAGACTCACGACATCTTGGC 0.602000 37 74 0 0 0.000781405 0 0 UGT2A1 10941 broad.mit.edu 37 4 70512912 70512912 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr4:70512912G>A uc011caq.2 - 1 567 c.451C>T c.(451-453)Cca>Tca p.P151S UGT2A1_uc010ihu.3_Missense_Mutation_p.P151S|UGT2A1_uc003hem.4_Missense_Mutation_p.P151S|UGT2A1_uc010iht.3_Missense_Mutation_p.P151S NM_001252274 NP_001239203 Q9Y4X1 UD2A1_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA. 151 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 GGAAATACTGGATCAGACACC 0.428000 42 18 0 0 0.000566183 0 0 KIAA2018 205717 broad.mit.edu 37 3 113375998 113375998 + Nonsense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr3:113375998G>A uc003eam.3 - 6 4942 c.4531C>T c.(4531-4533)Caa>Taa p.Q1511* KIAA2018_uc003eal.3_Nonsense_Mutation_p.Q1455* NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN Homo sapiens KIAA2018 (KIAA2018), mRNA. 1511 Gln-rich. regulation of transcription, DNA-dependent membrane|nucleus DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 GTCCTCTGTTGGTGGACATTA 0.483000 13 64 0 0 0.000781405 0 0 HELZ 9931 broad.mit.edu 37 17 65124822 65124822 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr17:65124822G>A uc010wqk.2 - 23 3522 c.3335C>T c.(3334-3336)gCt>gTt p.A1112V HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.A1111V NM_014877 NP_055692 Homo sapiens helicase with zinc finger (HELZ), mRNA. NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) CAGTCTTAGAGCCCGGGGGAT 0.433000 210 45 0 0 0.000781405 0 0 ACD 65057 broad.mit.edu 37 16 67694201 67694201 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr16:67694201G>A uc002etq.4 - 0 518 c.181C>T c.(181-183)Cct>Tct p.P61S ACD_uc002etp.4_Missense_Mutation_p.P61S|ACD_uc002etr.4_Missense_Mutation_p.P61S|ACD_uc010vjt.1_Missense_Mutation_p.P51S|PARD6A_uc002ett.3_5'Flank|PARD6A_uc002ets.3_5'Flank NM_001082486 NP_001075955 Q96AP0 ACD_HUMAN Homo sapiens adrenocortical dysplasia homolog (mouse) (ACD), transcript variant 1, mRNA. 61 intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding p.P61S(2) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) CTCGGAAGAGGAAGCTCCTTC 0.736000 15 7 0 0 0.000274275 0 0 BNC1 646 broad.mit.edu 37 15 83932427 83932427 + Missense_Mutation SNP C T T rs149687703 TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr15:83932427C>T uc002bjt.1 - 3 1664 c.1576G>A c.(1576-1578)Gaa>Aaa p.E526K BNC1_uc010uos.1_Missense_Mutation_p.E514K NM_001717 NP_001708 Q01954 BNC1_HUMAN Homo sapiens basonuclin 1 (BNC1), mRNA. 526 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 AATGGCATTTCGTTTGAAATG 0.488000 28 40 0 0 0.00148497 0 0 OR4M1 441670 broad.mit.edu 37 14 20248994 20248994 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr14:20248994C>T uc010tku.2 + 0 513 c.513C>T c.(511-513)ccC>ccT p.P171P NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA. 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P171P(2) NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCTGTGGGCCCAATGAGTTAG 0.498000 124 32 0 0 0.00128727 0 0 RGMA 56963 broad.mit.edu 37 15 93595475 93595475 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr15:93595475C>T uc010urc.2 - 2 648 c.417G>A c.(415-417)ccG>ccA p.P139P RGMA_uc002bsq.2_Silent_p.P115P|RGMA_uc021svs.1_Silent_p.P115P|RGMA_uc021svt.1_Silent_p.P115P|RGMA_uc010boi.2_Silent_p.P22P|RGMA_uc002bsr.2_Silent_p.P22P|RGMA_uc021svu.1_Silent_p.P115P|RGMA_uc002bss.2_Silent_p.P131P NM_001166283 NP_001159761 Q96B86 RGMA_HUMAN Homo sapiens RGM domain family, member A (RGMA), transcript variant 1, mRNA. 131 axon guidance anchored to membrane|endoplasmic reticulum|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 9 Lung NSC(78;0.0542)|all_lung(78;0.0786) BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108) TGTCTCCGGCCGGTGGGAGCG 0.647000 31 29 0 0 0.000692331 0 0 LINC00477 144360 broad.mit.edu 37 12 24736653 24736653 + RNA SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:24736653G>A uc001rgb.1 - 0 c.450C>T Homo sapiens long intergenic non-protein coding RNA 477 (LINC00477), non-coding RNA. GCTCAGTGGGGAAGGAGGGTG 0.562000 37 38 0 0 0.00222228 0 0 HOXC5 3222 broad.mit.edu 37 12 54427019 54427019 + Missense_Mutation SNP A T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:54427019A>T uc001sew.3 + 0 188 c.113A>T c.(112-114)tAc>tTc p.Y38F HOXC5_uc001set.3_Intron|HOXC4_uc001seu.3_Intron|MIR615_uc021qyl.1_5'Flank NM_018953 NP_061826 Q00444 HXC5_HUMAN Homo sapiens homeobox C5 (HOXC5), transcript variant 1, mRNA. 38 regulation of transcription from RNA polymerase II promoter cell junction|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1) 12 GCATCCAGGTACTGCTACGGC 0.557000 30 30 0 0 0.00209593 0 0 RBFOX1 54715 broad.mit.edu 37 16 7568259 7568259 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr16:7568259C>T uc002cys.2 + 4 1126 c.138C>T c.(136-138)ccC>ccT p.P46P RBFOX1_uc010buf.1_Silent_p.P46P|RBFOX1_uc002cyr.1_Silent_p.P46P|RBFOX1_uc002cyt.2_Silent_p.P46P|RBFOX1_uc010uxz.1_Silent_p.P89P|RBFOX1_uc010uya.1_Silent_p.P82P|RBFOX1_uc002cyv.1_Silent_p.P46P|RBFOX1_uc010uyb.1_Silent_p.P46P|RBFOX1_uc002cyw.2_Silent_p.P66P|RBFOX1_uc002cyy.2_Silent_p.P66P|RBFOX1_uc002cyx.2_Silent_p.P66P|RBFOX1_uc010uyc.1_Silent_p.P66P NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA. 46 RNA splicing|RNA transport|mRNA processing nucleus|trans-Golgi network RNA binding|nucleotide binding|protein C-terminus binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 CCCCTCATCCCCACCCCGCGC 0.652000 72 25 0 0 0.00127121 0 0 OR52E2 119678 broad.mit.edu 37 11 5080256 5080256 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr11:5080256C>T uc010qyw.2 - 0 602 c.602G>A c.(601-603)gGt>gAt p.G201D NM_001005164 NP_001005164 Q8NGJ4 O52E2_HUMAN Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA. 201 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) GGCACATAAACCATAAATAAT 0.408000 7 26 0 0 0.000586117 0 0 NFASC 23114 broad.mit.edu 37 1 204944475 204944475 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:204944475G>A uc010prc.2 + 13 1865 c.336G>A c.(334-336)gtG>gtA p.V112V NFASC_uc001hbh.3_Silent_p.V545V|NFASC_uc010pqz.2_Silent_p.V539V|NFASC_uc001hbj.3_Silent_p.V545V|NFASC_uc010pra.2_Silent_p.V556V|NFASC_uc001hbi.3_Silent_p.V556V|NFASC_uc010prb.2_Silent_p.V556V|NFASC_uc001hbk.1_Silent_p.V366V O94856 NFASC_HUMAN Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA. 545 Ig-like C2-type 1. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) AGTGTCGGGTGAAGCACGACC 0.607000 OREG0014142 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 151 0 0 0.000781405 0 0 OR6X1 390260 broad.mit.edu 37 11 123624842 123624842 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr11:123624842G>A uc010rzy.2 - 0 385 c.385C>T c.(385-387)Cac>Tac p.H129Y NM_001005188 NP_001005188 Q8NH79 OR6X1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA. 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2) 23 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) GTGGGGTGGTGAAGGGGATTG 0.552000 8 28 0 0 0.000878237 0 0 TTN 7273 broad.mit.edu 37 2 179584835 179584835 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:179584835G>A uc021vsy.1 - 77 20027 c.19802C>T c.(19801-19803)tCa>tTa p.S6601L TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S3262L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 7528 Ig-like 47. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.V6601A(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATCAATGAATGAAATCCTGGT 0.428000 24 21 0 0 0.00188189 0 0 SACS 26278 broad.mit.edu 37 13 23939335 23939335 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr13:23939335G>A uc001uon.2 - 5 1016 c.427C>T c.(427-429)Ctt>Ttt p.L143F SACS_uc001uoo.2_5'UTR|SACS_uc001uoq.1_5'UTR NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA. 143 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TTTGACCAAAGAGTCTCTGTT 0.328000 48 35 0 0 0.000953801 0 0 MORC1 27136 broad.mit.edu 37 3 108690227 108690227 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr3:108690227G>A uc003dxl.3 - 24 2587 c.2500C>T c.(2500-2502)Cct>Tct p.P834S MORC1_uc011bhn.2_Missense_Mutation_p.P813S NM_014429 NP_055244 Q86VD1 MORC1_HUMAN Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA. 834 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TGATGCTCAGGAAAAAAATAC 0.403000 11 57 0 0 0.000781405 0 0 ITPKA 3706 broad.mit.edu 37 15 41795237 41795237 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr15:41795237C>T uc001znz.3 + 6 1329 c.1259C>T c.(1258-1260)aCc>aTc p.T420I NM_002220 NP_002211 P23677 IP3KA_HUMAN Homo sapiens inositol-trisphosphate 3-kinase A (ITPKA), mRNA. 420 signal transduction ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity kidney(1)|lung(3)|skin(1) 5 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) TTCGGCAAGACCACGCCCCTC 0.672000 23 5 0 0 0.000602214 0 0 OTOA 146183 broad.mit.edu 37 16 21771827 21771827 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr16:21771827C>T uc002djh.3 + 27 3387 c.3386C>T c.(3385-3387)cCc>cTc p.P1129L LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.P1050L|OTOA_uc002dji.3_Missense_Mutation_p.P805L|OTOA_uc010vbk.2_Missense_Mutation_p.P777L NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA. 1143 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) CTTGGTTGTCCCCTGCTGGTT 0.517000 76 12 0 0 0.00188189 0 0 MAT2B 27430 broad.mit.edu 37 5 162939023 162939023 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr5:162939023C>T uc003lzk.3 + 1 187 c.79C>T c.(79-81)Cct>Tct p.P27S MAT2B_uc003lzj.3_Missense_Mutation_p.P16S|MAT2B_uc003lzl.1_Missense_Mutation_p.P27S NM_013283 NP_037415 Q9NZL9 MAT2B_HUMAN Homo sapiens methionine adenosyltransferase II, beta (MAT2B), transcript variant 1, mRNA. 27 S-adenosylmethionine biosynthetic process|extracellular polysaccharide biosynthetic process|methylation|xenobiotic metabolic process cytosol|methionine adenosyltransferase complex|nucleus dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1) 14 Renal(175;0.000281) Medulloblastoma(196;0.0208)|all_neural(177;0.0765) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) AGTTAACATCCCTAATAGGAG 0.423000 30 61 0 0 0.000781405 0 0 TLE3 7090 broad.mit.edu 37 15 70358439 70358439 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr15:70358439G>A uc002asl.2 - 5 807 c.506C>T c.(505-507)tCc>tTc p.S169F TLE3_uc002ask.2_Missense_Mutation_p.S108F|TLE3_uc010ukd.1_Missense_Mutation_p.S157F|TLE3_uc010bil.1_Missense_Mutation_p.S164F|TLE3_uc002asn.2_Missense_Mutation_p.S164F|TLE3_uc002asm.2_Missense_Mutation_p.S164F|TLE3_uc002asp.2_Missense_Mutation_p.S164F|TLE3_uc002aso.2_Missense_Mutation_p.S164F|TLE3_uc010bim.1_Non-coding_Transcript NM_001105192 NP_001098662 Q04726 TLE3_HUMAN Homo sapiens transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) (TLE3), transcript variant 2, mRNA. 164 Gly/Pro-rich. Wnt receptor signaling pathway|organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CAGCAGCCCGGAGCTGCTCCC 0.667000 19 34 0 0 0.00148497 0 0 DEAF1 10522 broad.mit.edu 37 11 674772 674772 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr11:674772G>A uc001lqq.1 - 9 1960 c.1267C>T c.(1267-1269)Ctg>Ttg p.L423L DEAF1_uc009ycf.1_Non-coding_Transcript|DEAF1_uc021qbn.1_Silent_p.L334L NM_021008 NP_066288 O75398 DEAF1_HUMAN Homo sapiens deformed epidermal autoregulatory factor 1 (Drosophila) (DEAF1), mRNA. 423 Pro-rich. embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|extracellular region|nucleus protein binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075) AGCGCAGGCAGGGATGTCAAC 0.557000 18 61 0 0 0.000781405 0 0 OR2M2 391194 broad.mit.edu 37 1 248344023 248344023 + Missense_Mutation SNP A T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:248344023A>T uc010pzf.2 + 0 736 c.736A>T c.(736-738)Atg>Ttg p.M246L NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA. 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CTCTCACCTCATGGTGGTGGG 0.483000 299 13 0 0 0.00188189 0 0 USP6 9098 broad.mit.edu 37 17 5045413 5045413 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr17:5045413G>A uc002gau.1 + 23 3919 c.1689G>A c.(1687-1689)ggG>ggA p.G563G USP6_uc002gav.1_Silent_p.G563G|USP6_uc010ckz.1_Silent_p.G246G NM_004505 NP_004496 P35125 UBP6_HUMAN Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA. 563 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 TTATCTCAGGGAGACATCTTT 0.418000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 64 30 0 0 0.0024448 0 0 MKS1 54903 broad.mit.edu 37 17 56293562 56293562 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr17:56293562G>A uc002ivr.2 - 3 379 c.304C>T c.(304-306)Cct>Tct p.P102S MKS1_uc010wnq.2_5'UTR|MKS1_uc021uam.1_Missense_Mutation_p.P92S NM_017777 NP_060247 Q9NXB0 MKS1_HUMAN Homo sapiens Meckel syndrome, type 1 (MKS1), transcript variant 1, mRNA. 102 cilium assembly centrosome|cilium|microtubule basal body protein binding endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 TAATCCAAAGGACTCTGACAG 0.403000 40 72 0 0 0.000781405 0 0 EHD3 30845 broad.mit.edu 37 2 31483590 31483590 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:31483590C>T uc002rnu.3 + 3 1325 c.717C>T c.(715-717)tcC>tcT p.S239S EHD3_uc010ymt.2_Intron NM_014600 NP_055415 Q9NZN3 EHD3_HUMAN Homo sapiens EH-domain containing 3 (EHD3), mRNA. 239 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) TCATGTGGTCCTTGGGGAAGA 0.592000 28 8 0 0 0.000157383 0 0 NLK 51701 broad.mit.edu 37 17 26488234 26488234 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr17:26488234C>T uc010crj.3 + 3 905 c.693C>T c.(691-693)gtC>gtT p.V231V NM_016231 NP_057315 Q9UBE8 NLK_HUMAN Homo sapiens nemo-like kinase (NLK), mRNA. 231 Protein kinase. Wnt receptor signaling pathway|intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus ATP binding|MAP kinase activity|SH2 domain binding|magnesium ion binding|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1) 14 all_lung(13;0.000343)|Lung NSC(42;0.00184) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) AAATTATCGTCTCTCCTCAAC 0.393000 28 28 0 0 0.00178596 0 0 SLC17A9 63910 broad.mit.edu 37 20 61594002 61594002 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr20:61594002C>T uc002yea.4 + 4 708 c.524C>T c.(523-525)tCc>tTc p.S175F SLC17A9_uc002ydz.4_Missense_Mutation_p.S169F|SLC17A9_uc011aap.1_Missense_Mutation_p.S195F NM_022082 NP_071365 Q9BYT1 S17A9_HUMAN Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA. 175 exocytosis|transmembrane transport integral to membrane transporter activity endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 23 GCGGTGGGCTCCCTGCTCCTG 0.637000 88 25 0 0 0.000720815 0 0 SCMH1 22955 broad.mit.edu 37 1 41579008 41579008 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:41579008G>A uc001cgo.3 - 7 1031 c.662C>T c.(661-663)cCt>cTt p.P221L SCMH1_uc010ojr.2_Intron|SCMH1_uc001cgp.3_Missense_Mutation_p.P160L|SCMH1_uc001cgr.3_Missense_Mutation_p.P160L|SCMH1_uc001cgq.3_Missense_Mutation_p.P174L|SCMH1_uc001cgs.3_Missense_Mutation_p.P231L|SCMH1_uc001cgt.3_Missense_Mutation_p.P160L|SCMH1_uc010ojs.1_Non-coding_Transcript NM_001031694 NP_001165692 Q96GD3 SCMH1_HUMAN Homo sapiens sex comb on midleg homolog 1 (Drosophila) (SCMH1), transcript variant 1, mRNA. 221 anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162) Myeloproliferative disorder(586;0.0393) CCAGCCCACAGGGAAGATGTC 0.557000 38 60 0 0 0.000781405 0 0 HEPACAM2 253012 broad.mit.edu 37 7 92826826 92826826 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:92826826G>A uc011khy.2 - 5 1202 c.1179C>T c.(1177-1179)ttC>ttT p.F393F HEPACAM2_uc003uml.3_Silent_p.F358F|HEPACAM2_uc010lff.3_Silent_p.F358F|HEPACAM2_uc003umm.3_Silent_p.F370F NM_198151 NP_937794 A8MVW5 HECA2_HUMAN Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA. 370 integral to membrane p.A393D(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 TTTTCCATAGGAAGAGAAGAC 0.303000 61 31 0 0 0.00209593 0 0 ABCC9 10060 broad.mit.edu 37 12 21967600 21967600 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:21967600G>A uc001rfh.3 - 32 4100 c.4080C>T c.(4078-4080)ttC>ttT p.F1360F ABCC9_uc001rfi.1_Silent_p.F1360F NM_020297 NP_064693 O60706 ABCC9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA. 1360 ABC transporter 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CAACCATTCTGAAGAAAGCCA 0.403000 31 8 0 0 0.000274275 0 0 ABCC6 368 broad.mit.edu 37 16 16276311 16276311 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr16:16276311C>T uc002den.4 - 16 2242 c.2205G>A c.(2203-2205)gtG>gtA p.V735V ABCC6_uc010bvo.3_Non-coding_Transcript NM_001171 NP_001162 O95255 MRP6_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA. 735 ABC transporter 1. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) GGAAGCTGTCCACATCTGGCT 0.557000 19 26 0 0 0.001512 0 0 GDAP2 54834 broad.mit.edu 37 1 118420659 118420659 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:118420659G>A uc001ehf.3 - 12 1717 c.1418C>T c.(1417-1419)cCt>cTt p.P473L GDAP2_uc001ehg.3_Missense_Mutation_p.P473L NM_017686 NP_060156 Q9NXN4 GDAP2_HUMAN Homo sapiens ganglioside induced differentiation associated protein 2 (GDAP2), transcript variant 1, mRNA. 473 CRAL-TRIO. kidney(2)|large_intestine(3)|lung(9)|ovary(2) 16 all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295) Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194) GACAAAAGGAGGAAAGTCAAT 0.448000 24 20 0 0 0.00278032 0 0 TEX15 56154 broad.mit.edu 37 8 30704952 30704952 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:30704952C>T uc003xil.3 - 0 1582 c.1582G>A c.(1582-1584)Gaa>Aaa p.E528K NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN Homo sapiens testis expressed 15 (TEX15), mRNA. 528 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CTCAAAATTTCTATATTGTGG 0.318000 57 35 0 0 0.000814825 0 0 CLEC10A 10462 broad.mit.edu 37 17 6978516 6978516 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr17:6978516C>T uc002gek.3 - 8 1111 c.808G>A c.(808-810)Gac>Aac p.D270N CLEC10A_uc002gej.3_Missense_Mutation_p.D246N|CLEC10A_uc010clv.2_3'UTR NM_182906 NP_878910 Q8IUN9 CLC10_HUMAN Homo sapiens C-type lectin domain family 10, member A (CLEC10A), transcript variant 1, mRNA. 270 C-type lectin. endocytosis|innate immune response integral to membrane|plasma membrane sugar binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 CCCTGCCAGTCGTCTGGCTGG 0.597000 25 18 0 0 0.00121646 0 0 CRTC2 200186 broad.mit.edu 37 1 153920746 153920746 + Missense_Mutation SNP A C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:153920746A>C uc021pab.1 - 13 2080 c.1921T>G c.(1921-1923)Ttt>Gtt p.F641V DENND4B_uc001fdd.1_5'Flank|CRTC2_uc001fde.4_Non-coding_Transcript|CRTC2_uc001fdf.4_Missense_Mutation_p.F177V NM_181715 NP_859066 Q53ET0 CRTC2_HUMAN Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA. 641 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 27 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GACACCTCAAAGCCAGGCACT 0.582000 98 27 0 0 0.00178596 0 0 ZNF229 7772 broad.mit.edu 37 19 44934538 44934538 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:44934538G>A uc002oze.1 - 5 852 c.418C>T c.(418-420)Cat>Tat p.H140Y ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.H134Y NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN Homo sapiens zinc finger protein 229 (ZNF229), mRNA. 140 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) CACCCTTGATGGGGAGCAGCA 0.478000 72 27 0 0 0.001512 0 0 FAM192A 80011 broad.mit.edu 37 16 57188231 57188232 + Nonsense_Mutation DNP GG AA AA TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr16:57188231_57188232GG>AA uc021tiy.1 - 6 994_995 c.735_736CC>TT c.(733-738)ttccga>ttTTga p.R246* FAM192A_uc021tix.1_Non-coding_Transcript NM_024946 NP_079222 Q9GZU8 F192A_HUMAN Homo sapiens family with sequence similarity 192, member A (FAM192A), mRNA. 246 nucleus endometrium(2)|large_intestine(3)|lung(4)|prostate(2) 11 GTGTTGGTTCGGAAGATGGAGG 0.584000 35 12 0 0 6.4e-05 0 0 MPP7 143098 broad.mit.edu 37 10 28409268 28409268 + Missense_Mutation SNP G A A rs34411482 TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr10:28409268G>A uc001iua.1 - 11 1146 c.742C>T c.(742-744)Cca>Tca p.P248S MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.P248S|MPP7_uc009xla.2_Missense_Mutation_p.P248S|MPP7_uc010qdv.1_Non-coding_Transcript NM_173496 NP_775767 Q5T2T1 MPP7_HUMAN Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA. 248 SH3. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 TCCTTACATGGAATTGCCTTA 0.363000 56 43 0 0 0.000781405 0 0 MST1P2 11209 broad.mit.edu 37 1 16975082 16975082 + RNA SNP A G G TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:16975082A>G uc010och.2 + 6 c.1542A>G MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA. CCAGACCCAGATGGGGATAGC 0.612000 70 6 0 0 0.000673444 0 0 F3 2152 broad.mit.edu 37 1 94997936 94997936 + Missense_Mutation SNP T G G TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:94997936T>G uc001dqr.3 - 4 913 c.692A>C c.(691-693)aAc>aCc p.N231T F3_uc001dqp.2_Non-coding_Transcript|F3_uc001dqq.2_Intron|F3_uc001dqs.3_Intron NM_001993 NP_001984 P13726 TF_HUMAN Homo sapiens coagulation factor III (thromboplastin, tissue factor) (F3), transcript variant 1, mRNA. 231 activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade extracellular matrix|extracellular space|integral to membrane cell surface binding|phospholipid binding|protease binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7) 14 all_lung(203;0.00106)|Lung NSC(277;0.00475) all cancers(265;0.0232)|Epithelial(280;0.121) Coagulation factor VIIa(DB00036) ACTCTTCCGGTTAACTGTTCG 0.478000 53 18 0 0 0.00121646 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946384 16946384 + RNA SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:16946384C>T uc010ocf.2 - 2 c.514G>A CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA. TCGTCATGCTCCTGCTGCAGG 0.652000 18 5 0 0 0.00198382 0 0 DZANK1 55184 broad.mit.edu 37 20 18365132 18365133 + Missense_Mutation DNP GG AA AA TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr20:18365132_18365133GG>AA uc010zsa.2 - 20 2435_2436 c.2226_2227CC>TT c.(2224-2229)gacctt>gaTTtt p.L743F DZANK1_uc010zrz.2_Missense_Mutation_p.L262F|DZANK1_uc002wqp.4_Missense_Mutation_p.L434F|DZANK1_uc002wqr.4_Non-coding_Transcript|DZANK1_uc002wqs.4_Missense_Mutation_p.L610F|DZANK1_uc002wqq.4_Missense_Mutation_p.L724F NM_001099407 NP_001092877 Q9NVP4 CT012_HUMAN Homo sapiens double zinc ribbon and ankyrin repeat domains 1 (DZANK1), mRNA. 551 intracellular zinc ion binding NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10) 19 GAGGTGACAAGGTCATCTCCAG 0.525000 14 12 0 0 6.4e-05 0 0 P2RY4 5030 broad.mit.edu 37 X 69479145 69479145 + Silent SNP G A A rs146718292 byFrequency TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chrX:69479145G>A uc004dxz.1 - 0 510 c.330C>T c.(328-330)ttC>ttT p.F110F NM_002565 NP_002556 P51582 P2RY4_HUMAN Homo sapiens pyrimidinergic receptor P2Y, G-protein coupled, 4 (P2RY4), mRNA. 110 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled cervix(2)|endometrium(2)|large_intestine(8)|lung(6) 18 GAAAGCGGACGAACTTGCAGA 0.542000 5 18 0 0 0.000958276 0 0 METTL18 92342 broad.mit.edu 37 1 169762117 169762117 + Silent SNP T C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:169762117T>C uc001ggn.3 - 1 998 c.720A>G c.(718-720)gaA>gaG p.E240E C1orf112_uc001ggj.3_Intron|METTL18_uc021pen.1_Silent_p.E240E|C1orf112_uc001ggo.3_5'Flank|C1orf112_uc010plt.1_5'Flank|C1orf112_uc001ggp.3_5'Flank|C1orf112_uc001ggq.3_5'Flank|C1orf112_uc009wvt.3_5'Flank NM_033418 NP_219486 O95568 MET18_HUMAN Homo sapiens methyltransferase like 18 (METTL18), mRNA. 240 cytoplasm protein methyltransferase activity kidney(1)|large_intestine(3)|lung(4) 8 CATCATTTTCTTCATCTTCCA 0.358000 119 50 0 0 0.000781405 0 0 OTOP3 347741 broad.mit.edu 37 17 72943286 72943286 + Missense_Mutation SNP C G G TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr17:72943286C>G uc010wrr.2 + 5 1336 c.1336C>G c.(1336-1338)Ctc>Gtc p.L446V OTOP3_uc010wrq.2_Missense_Mutation_p.L428V NM_178233 NP_839947 Q7RTS5 OTOP3_HUMAN Homo sapiens otopetrin 3 (OTOP3), mRNA. 446 integral to membrane|intracellular zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_lung(278;0.151)|Lung NSC(278;0.185) GCATGAGCTGCTCAACCGCCT 0.617000 34 5 0 0 0.000602214 0 0 ARHGAP19 84986 broad.mit.edu 37 10 99023380 99023380 + Missense_Mutation SNP C G G TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr10:99023380C>G uc001knb.3 - 3 456 c.410G>C c.(409-411)cGa>cCa p.R137P ARHGAP19_uc001kmy.3_Non-coding_Transcript|ARHGAP19_uc001kna.3_Missense_Mutation_p.R128P|ARHGAP19_uc009xvj.3_Missense_Mutation_p.R137P|ARHGAP19_uc009xvi.3_Non-coding_Transcript|ARHGAP19_uc009xvk.3_Intron NM_032900 NP_116289 Q14CB8 RHG19_HUMAN Homo sapiens Rho GTPase activating protein 19 (ARHGAP19), transcript variant 1, mRNA. 137 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|nucleus GTPase activator activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1) 13 Colorectal(252;0.0854) Epithelial(162;7.65e-09)|all cancers(201;4.49e-07) ACCCTCTACTCGCAAGTCTGT 0.373000 13 29 0 0 0.00209593 0 0 NPC2 10577 broad.mit.edu 37 14 74951183 74951183 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr14:74951183G>A uc001xpy.3 - 2 405 c.298C>T c.(298-300)Cct>Tct p.P100S NPC2_uc010tus.2_Missense_Mutation_p.P100S NM_006432 NP_006423 P61916 NPC2_HUMAN Homo sapiens Niemann-Pick disease, type C2 (NPC2), mRNA. 100 cholesterol efflux|cholesterol homeostasis|glycolipid transport|intracellular cholesterol transport|phospholipid transport|regulation of isoprenoid metabolic process|response to virus extracellular region|lysosome cholesterol binding|enzyme binding breast(1)|endometrium(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(2) 7 BRCA - Breast invasive adenocarcinoma(234;0.00149) TTTTGGATAGGGCAGTTAATT 0.478000 43 23 0 0 0.00229938 0 0 CEP290 80184 broad.mit.edu 37 12 88486551 88486551 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:88486551G>A uc001tar.3 - 28 3712 c.3368C>T c.(3367-3369)gCt>gTt p.A1123V CEP290_uc001taq.3_Missense_Mutation_p.A183V NM_025114 NP_079390 O15078 CE290_HUMAN Homo sapiens centrosomal protein 290kDa (CEP290), mRNA. 1123 G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 CACACTATCAGCTAATTCATC 0.348000 125 34 0 0 0.00111076 0 0 COL15A1 1306 broad.mit.edu 37 9 101777809 101777809 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr9:101777809C>T uc004azb.1 + 9 1670 c.1464C>T c.(1462-1464)ccC>ccT p.P488P NM_001855 NP_001846 P39059 COFA1_HUMAN Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA. 488 4 X tandem repeats.|Nonhelical region 1 (NC1). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) GCCTGGCTCCCCTCACAGCCA 0.567000 21 21 0 0 0.00278032 0 0 C8orf76 84933 broad.mit.edu 37 8 124232387 124232387 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:124232387G>A uc003yqc.2 - 5 1151 c.1099C>T c.(1099-1101)Cca>Tca p.P367S NM_032847 NP_116236 Q96K31 CH076_HUMAN Homo sapiens chromosome 8 open reading frame 76 (C8orf76), mRNA. 367 binding NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4) 17 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) TTTTCAAATGGACAGAAATGG 0.383000 62 33 0 0 0.000953801 0 0 OR4L1 122742 broad.mit.edu 37 14 20528236 20528236 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr14:20528236G>A uc001vwn.1 + 0 33 c.33G>A c.(31-33)gaG>gaA p.E11E NM_001004717 NP_001004717 Q8NH43 OR4L1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA. 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E11*(1) central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) TAGTGACCGAGTTTATTTTAC 0.338000 72 29 0 0 0.00209593 0 0 LILRA5 353514 broad.mit.edu 37 19 54823302 54823302 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:54823302C>T uc002qfe.3 - 3 361 c.241G>A c.(241-243)Gag>Aag p.E81K LILRA5_uc002qff.3_Missense_Mutation_p.E69K|LILRA5_uc010yev.2_Missense_Mutation_p.E81K|LILRA5_uc010yew.2_Missense_Mutation_p.E69K|LILRA5_uc002qfg.1_Missense_Mutation_p.E81K|LILRA5_uc002qfh.1_Missense_Mutation_p.E69K NM_021250 NP_067073 A6NI73 LIRA5_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA. 81 Ig-like C2-type 1. innate immune response extracellular region|integral to membrane receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGCTTCCCTCTTTAACCAGA 0.592000 75 56 0 0 0.000781405 0 0 PTPRN2 5799 broad.mit.edu 37 7 157931004 157931004 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:157931004G>A uc003wno.3 - 6 1235 c.1114C>T c.(1114-1116)Cgt>Tgt p.R372C PTPRN2_uc003wnp.3_Missense_Mutation_p.R355C|PTPRN2_uc003wnq.3_Missense_Mutation_p.R372C|PTPRN2_uc003wnr.3_Missense_Mutation_p.R334C|PTPRN2_uc011kwa.2_Missense_Mutation_p.R395C NM_002847 NP_002838 Q92932 PTPR2_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA. 372 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.R372C(2) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) CTGTCTCCACGGAGGGTGGCC 0.677000 32 17 0 0 0.000958276 0 0 NLRC3 197358 broad.mit.edu 37 16 3604305 3604305 + Silent SNP C T T rs141569334 by1000genomes TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr16:3604305C>T uc010btn.3 - 8 2616 c.2205G>A c.(2203-2205)agG>agA p.R735R NLRC3_uc010bto.1_5'UTR NM_178844 NP_849172 Q7RTR2 NLRC3_HUMAN Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA. 735 I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CACCATCATCCCTAACGGTGT 0.592000 22 21 0 0 0.000720815 0 0 MAPK4 5596 broad.mit.edu 37 18 48190390 48190390 + Missense_Mutation SNP T G G TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr18:48190390T>G uc002lev.3 + 1 1062 c.62T>G c.(61-63)gTt>gGt p.V21G MAPK4_uc010xdm.2_Intron|MAPK4_uc010doz.3_Missense_Mutation_p.V21G NM_002747 NP_002738 P31152 MK04_HUMAN Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA. 21 Protein kinase. cell cycle ATP binding|MAP kinase activity lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) GGGCGCTTTGTTGACTTCCAA 0.597000 71 41 0 0 0.0025221 0 0 MYH4 4622 broad.mit.edu 37 17 10348605 10348605 + Silent SNP G A A rs149221663 TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr17:10348605G>A uc002gmn.3 - 35 5355 c.5244C>T c.(5242-5244)atC>atT p.I1748I AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 1748 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 CTTCCTGGACGATGTCCTCCA 0.468000 103 31 0 0 0.0024448 0 0 LRRC55 219527 broad.mit.edu 37 11 56949896 56949896 + Nonsense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr11:56949896C>T uc001njl.2 + 0 676 c.529C>T c.(529-531)Cag>Tag p.Q177* NM_001005210 NP_001005210 Q6ZSA7 LRC55_HUMAN Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA. 147 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2) 25 CGACATGTTCCAGGAGGCCCA 0.612000 3 12 0 0 0.000978159 0 0 FAM47A 158724 broad.mit.edu 37 X 34149691 34149691 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chrX:34149691G>A uc004ddg.3 - 0 757 c.705C>T c.(703-705)ctC>ctT p.L235L NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA. 235 Pro-rich. p.L235_H246delLRPEPPETGVSH(2) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 GCTCCGGGCGGAGATGGGACA 0.632000 8 30 0 0 0.0024448 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33956987 33956987 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:33956987C>T uc001bxj.4 + 5 1296 c.1129C>T c.(1129-1131)Cgc>Tgc p.R377C ZSCAN20_uc001bxk.2_Missense_Mutation_p.R323C|ZSCAN20_uc009vui.3_Missense_Mutation_p.R377C NM_145238 NP_660281 P17040 ZSC20_HUMAN Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA. 377 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) GGAGCAATGTCGCTATAGGGT 0.572000 55 46 0 0 0.000781405 0 0 GLT8D2 83468 broad.mit.edu 37 12 104388185 104388185 + Missense_Mutation SNP A G G TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:104388185A>G uc001tkh.1 - 8 1252 c.695T>C c.(694-696)gTt>gCt p.V232A GLT8D2_uc001tki.1_Missense_Mutation_p.V232A NM_031302 NP_112592 Q9H1C3 GL8D2_HUMAN Homo sapiens glycosyltransferase 8 domain containing 2 (GLT8D2), mRNA. 232 integral to membrane transferase activity, transferring glycosyl groups kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 CATGTTGGCAACAATCACACC 0.468000 40 16 0 0 0.000422831 0 0 TPTE 7179 broad.mit.edu 37 21 10996106 10996106 + RNA SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr21:10996106C>T uc002yis.1 - 11 c.2080G>A P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTGCCCAGTTCGACTTCTTTG 0.413000 54 10 0 0 0.000978159 0 0 TOX2 84969 broad.mit.edu 37 20 42680092 42680092 + Silent SNP C T T rs144641336 TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr20:42680092C>T uc010ggo.3 + 3 598 c.558C>T c.(556-558)atC>atT p.I186I TOX2_uc002xle.4_Silent_p.I144I|TOX2_uc010ggp.3_Silent_p.I144I|TOX2_uc002xlf.4_Silent_p.I195I|TOX2_uc010zwk.2_Silent_p.I64I NM_001098797 NP_116272 Q96NM4 TOX2_HUMAN Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA. 195 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.D185N(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) GGAGCAGCATCGCCCACAGCT 0.657000 19 18 0 0 0.000566183 0 0 AFAP1L1 134265 broad.mit.edu 37 5 148715246 148715246 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr5:148715246C>T uc003lqh.3 + 17 2375 c.2244C>T c.(2242-2244)atC>atT p.I748I AFAP1L1_uc010jgy.3_Intron|AFAP1L1_uc003lqi.2_Silent_p.I363I NM_152406 NP_689619 Q8TED9 AF1L1_HUMAN Homo sapiens actin filament associated protein 1-like 1 (AFAP1L1), transcript variant 1, mRNA. 748 protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCCATCCATCGTAGCCTCCA 0.502000 58 76 0 0 0.000781405 0 0 CHRND 1144 broad.mit.edu 37 2 233398938 233398938 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:233398938G>A uc002vsw.3 + 10 1261 c.1257G>A c.(1255-1257)cgG>cgA p.R419R CHRND_uc010zmg.2_Silent_p.R404R|CHRND_uc010zmh.2_Silent_p.R225R NM_000751 NP_000742 Q07001 ACHD_HUMAN Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA. 419 muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1) 34 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) CTGTAGGCCGGCCCCCAGCAA 0.607000 25 31 0 0 0.001512 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140180842 140180842 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr5:140180842C>T uc003lhf.2 + 0 60 c.60C>T c.(58-60)ctC>ctT p.L20L PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.L20L NM_018906 NP_061729 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA. 33 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTTCTGCTCCTCGCAGCCT 0.572000 24 84 0 0 0.000781405 0 0 C20orf132 140699 broad.mit.edu 37 20 35766354 35766354 + Missense_Mutation SNP A G G TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr20:35766354A>G uc010zvu.2 - 13 1599 c.1508T>C c.(1507-1509)gTt>gCt p.V503A C20orf132_uc002xgk.3_Missense_Mutation_p.V135A|C20orf132_uc002xgm.2_Missense_Mutation_p.V503A|C20orf132_uc002xgn.2_Missense_Mutation_p.V468A NM_152503 NP_689716 Q9H579 CT132_HUMAN Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA. 388 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1) 9 Myeloproliferative disorder(115;0.00878) GGCACAGATAACTCCCATAAT 0.398000 20 7 0 0 0.000274275 0 0 HAS1 3036 broad.mit.edu 37 19 52220346 52220346 + Missense_Mutation SNP C G G rs137939869 TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:52220346C>G uc002pxn.1 - 1 837 c.824G>C c.(823-825)cGg>cCg p.R275P HAS1_uc010epc.1_5'UTR|HAS1_uc010epd.1_Missense_Mutation_p.R233P|HAS1_uc002pxo.1_Missense_Mutation_p.R268P|HAS1_uc002pxp.1_Missense_Mutation_p.R267P NM_001523 NP_001514 Q92839 HAS1_HUMAN Homo sapiens hyaluronan synthase 1 (HAS1), mRNA. 268 cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 40 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) GTTAAGGATCCGCACGTCCCC 0.607000 32 10 0 0 0.00136819 0 0 PEAR1 375033 broad.mit.edu 37 1 156873774 156873774 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:156873774G>A uc001fqj.1 + 1 172 c.56G>A c.(55-57)gGa>gAa p.G19E PEAR1_uc009wsl.1_5'Flank|PEAR1_uc001fqk.1_5'Flank NM_001080471 NP_001073940 Q5VY43 PEAR1_HUMAN Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA. 19 integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CGGCTGGCTGGAACTCTCAAC 0.637000 111 55 0 0 0.000781405 0 0 C4orf21 55345 broad.mit.edu 37 4 113505255 113505255 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr4:113505255G>A uc003iau.3 - 14 4388 c.4177C>T c.(4177-4179)Cca>Tca p.P1393S C4orf21_uc003iav.3_Non-coding_Transcript NM_018392 NP_060862 Q86YA3 CD021_HUMAN Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA. 0 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) GAATATCCTGGAGTCACGTCC 0.383000 38 24 0 0 0.00278032 0 0 TTN 7273 broad.mit.edu 37 2 179439291 179439291 + Missense_Mutation SNP G C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:179439291G>C uc021vsy.1 - 274 64089 c.63864C>G c.(63862-63864)agC>agG p.S21288R MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S14983R|TTN_uc021vta.1_Missense_Mutation_p.S14916R|TTN_uc021vtb.1_Missense_Mutation_p.S14791R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 22215 Fibronectin type-III 54. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTAAAATGGGGCTTCCACCAT 0.433000 53 20 0 0 0.000958276 0 0 COL3A1 1281 broad.mit.edu 37 2 189868844 189868844 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:189868844G>A uc002uqj.1 + 38 2915 c.2798G>A c.(2797-2799)gGa>gAa p.G933E NM_000090 NP_000081 P02461 CO3A1_HUMAN Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA. 933 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GGAGAGAAGGGATCGCCTGGT 0.493000 30 12 0 0 0.00185496 0 0 PKD1L2 114780 broad.mit.edu 37 16 81208372 81208372 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr16:81208372C>T uc002fgh.1 - 15 2731 c.2731G>A c.(2731-2733)Gaa>Aaa p.E911K PKD1L2_uc002fgg.1_Non-coding_Transcript|PKD1L2_uc002fgi.3_Missense_Mutation_p.E226K|PKD1L2_uc002fgj.3_Missense_Mutation_p.E911K|PKD1L2_uc002fgk.1_Missense_Mutation_p.E53K|PKD1L2_uc002fgl.1_Missense_Mutation_p.E167K NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA. 911 REJ. neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding p.H910H(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CCCTGGCTTTCATGCTCTTGG 0.607000 12 4 0 0 0.00116845 0 0 RGL4 266747 broad.mit.edu 37 22 24038875 24038876 + Splice_Site DNP GG AA AA TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr22:24038875_24038876GG>AA uc002zxo.3 + 7 2418 c.1161_splice c.e7+1 p.K387_splice GUSBP11_uc002zxk.4_Intron|GUSBP11_uc010gua.3_Intron|GUSBP11_uc002zxl.4_Intron|GUSBP11_uc011aiz.2_Intron|GUSBP11_uc002zxm.3_Intron|RGL4_uc002zxn.3_Splice_Site_p.K387_splice|RGL4_uc002zxp.1_Splice_Site_p.K251_splice|RGL4_uc002zxq.3_Splice_Site_p.K251_splice Q8IZJ4 RGDSR_HUMAN Homo sapiens ral guanine nucleotide dissociation stimulator-like 4 (RGL4), mRNA. 387 Ras-GEF. small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle guanyl-nucleotide exchange factor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3) 15 GGCAGAAGAAGGTGAGTGAGCC 0.649000 17 11 0 0 6.4e-05 0 0 FBXO41 150726 broad.mit.edu 37 2 73492531 73492531 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:73492531C>T uc021vjh.1 - 3 1533 c.1443G>A c.(1441-1443)ggG>ggA p.G481G NM_001080410 NP_001073879 Q8TF61 FBX41_HUMAN Homo sapiens F-box protein 41 (FBXO41), mRNA. 481 intracellular protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1) 13 CACCCTCTTCCCCCTCAGTGC 0.701000 10 20 0 0 0.00121646 0 0 KLHL17 339451 broad.mit.edu 37 1 898587 898587 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:898587C>T uc001aca.2 + 6 1248 c.1141C>T c.(1141-1143)Cgg>Tgg p.R381W KLHL17_uc001acc.2_Non-coding_Transcript|KLHL17_uc010nyb.1_Silent_p.P129P NM_198317 NP_938073 Q6TDP4 KLH17_HUMAN Homo sapiens kelch-like 17 (Drosophila) (KLHL17), mRNA. 381 Interaction with F-actin (By similarity). actin cytoskeleton organization actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane protein complex scaffold central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GCGCCGGGCCCGGGTGGGAGT 0.706000 16 7 0 0 0.000157383 0 0 GABRG3 2567 broad.mit.edu 37 15 27572117 27572117 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr15:27572117C>T uc001zbg.2 + 3 686 c.432C>T c.(430-432)atC>atT p.I144I GABRG3_uc001zbf.3_Silent_p.I144I NM_033223 NP_150092 Q99928 GBRG3_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 3 (GABRG3), mRNA. 144 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4) 42 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) CTCACTGGATCACCACACCCA 0.448000 19 27 0 0 0.000720815 0 0 FOCAD 54914 broad.mit.edu 37 9 20988359 20988359 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr9:20988359G>A uc003zog.1 + 42 5298 c.4935G>A c.(4933-4935)ttG>ttA p.L1645L FOCAD_uc003zoh.1_Silent_p.L1081L NM_017794 NP_060264 Q5VW36 K1797_HUMAN Homo sapiens KIAA1797 (KIAA1797), mRNA. 1645 integral to membrane binding AGTGGCTCTTGGAACTGATGG 0.378000 30 21 0 0 0.00047179 0 0 OR56A5 390084 broad.mit.edu 37 11 5988893 5988893 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr11:5988893G>A uc010qzu.2 - 0 832 c.832C>T c.(832-834)Ctg>Ttg p.L278L NM_001146033 NP_001139505 P0C7T3 O56A5_HUMAN Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA. 278 integral to membrane|plasma membrane olfactory receptor activity ATGTTGAGCAGGATGGGGACA 0.522000 7 12 0 0 0.00244969 0 0 SERTAD4 56256 broad.mit.edu 37 1 210415306 210415306 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:210415306C>T uc001hhy.3 + 3 874 c.695C>T c.(694-696)tCt>tTt p.S232F SERTAD4_uc009xcw.3_Missense_Mutation_p.S232F NM_019605 NP_062551 Q9NUC0 SRTD4_HUMAN Homo sapiens SERTA domain containing 4 (SERTAD4), mRNA. 232 Ser-rich. protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127) tcctcttcctctccccctTTG 0.488000 38 46 0 0 0.00285205 0 0 BC101079 0 broad.mit.edu 37 15 102291841 102291841 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr15:102291841C>T uc010usj.2 + 2 208 c.149C>T c.(148-150)tCc>tTc p.S50F DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank Homo sapiens cDNA clone IMAGE:40009338. CTGGTGGACTCCTACATGGCC 0.547000 26 12 0 0 0.000308642 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72013120 72013120 + Missense_Mutation SNP T C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:72013120T>C uc001swo.2 - 26 5478 c.5119A>G c.(5119-5121)Aag>Gag p.K1707E NM_144982 NP_659419 O60293 ZC3H1_HUMAN Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA. 1707 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TTATTATACTTCTCAAACCCC 0.348000 30 10 0 0 0.00136819 0 0 NOS1 4842 broad.mit.edu 37 12 117696239 117696239 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:117696239C>T uc001twn.2 - 15 3205 c.2494G>A c.(2494-2496)Gaa>Aaa p.E832K NOS1_uc021ren.1_Missense_Mutation_p.E496K|NOS1_uc021reo.1_Missense_Mutation_p.E496K|NOS1_uc001twm.2_Missense_Mutation_p.E832K NM_001204218 NP_001191147 P29475 NOS1_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA. 832 Flavodoxin-like. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TGCCTCATTTCCATCAAAGCA 0.498000 30 17 0 0 0.00152264 0 0 FLG2 388698 broad.mit.edu 37 1 152328874 152328874 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:152328874G>A uc001ezw.4 - 2 1461 c.1388C>T c.(1387-1389)tCc>tTc p.S463F AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 463 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATAGCCCAAGGATTGACTTGA 0.507000 23 179 0 0 0.000781405 0 0 TMPRSS7 344805 broad.mit.edu 37 3 111797664 111797664 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr3:111797664G>A uc010hqb.2 + 14 2092 c.1922G>A c.(1921-1923)gGg>gAg p.G641E TMPRSS7_uc011bhr.1_Missense_Mutation_p.G496E NM_001042575 NP_001036040 Q7RTY8 TMPS7_HUMAN Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA. 767 Peptidase S1. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 TCCACCTACGGGATCATCACT 0.468000 8 43 0 0 0.000680045 0 0 SCN3A 6328 broad.mit.edu 37 2 165997446 165997446 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:165997446G>A uc002ucx.3 - 12 2226 c.1734C>T c.(1732-1734)ttC>ttT p.F578F SCN3A_uc002ucy.3_Silent_p.F578F|SCN3A_uc002ucz.3_Silent_p.F578F|SCN3A_uc002uda.1_Silent_p.F447F|SCN3A_uc002udb.1_Silent_p.F447F NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA. 578 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) CTCTGAAACTGAAAATGCTTG 0.463000 26 14 0 0 0.000308642 0 0 DLG4 1742 broad.mit.edu 37 17 7107068 7107068 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr17:7107068G>A uc010vtn.2 - 3 358 c.98C>T c.(97-99)tCc>tTc p.S33F DLG4_uc010vtm.2_Non-coding_Transcript|DLG4_uc010cly.3_Missense_Mutation_p.S90F|DLG4_uc002get.4_Missense_Mutation_p.S136F|DLG4_uc010vto.2_Missense_Mutation_p.S133F|DLG4_uc002geu.3_Missense_Mutation_p.S90F NM_001128827 NP_001122299 P78352 DLG4_HUMAN Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 2, mRNA. 93 axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein C-terminus binding|protein binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2) 18 GATGAAAATGGATGGGTCGTC 0.607000 23 27 0 0 0.000720815 0 0 PPP1R15A 23645 broad.mit.edu 37 19 49377269 49377269 + Nonsense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:49377269G>A uc002pky.4 + 1 1048 c.779G>A c.(778-780)tGg>tAg p.W260* NM_014330 NP_055145 O75807 PR15A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 15A (PPP1R15A), mRNA. 260 Glu-rich. apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus endoplasmic reticulum protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1) 23 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033) CCCAGGTCCTGGGAGTATCGT 0.562000 32 10 0 0 0.000673444 0 0 MGAM 8972 broad.mit.edu 37 7 141797419 141797419 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:141797419C>T uc003vwy.3 + 42 5085 c.5031C>T c.(5029-5031)ttC>ttT p.F1677F NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1677 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CTGCATATTTCCCTAGAGCCC 0.393000 32 42 0 0 0.000781405 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12884953 12884953 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:12884953G>A uc001auk.2 - 3 1354 c.1158C>T c.(1156-1158)ctC>ctT p.L386L NM_001146344 NP_001139816 O60813 PRA11_HUMAN Homo sapiens PRAME family member 11 (PRAMEF11), mRNA. 386 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 TGCTCCAGCAGAGAGTACCAT 0.502000 100 136 0 0 0.000781405 0 0 ADAM7 8756 broad.mit.edu 37 8 24346676 24346676 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:24346676C>T uc003xeb.3 + 11 1209 c.1096C>T c.(1096-1098)Cct>Tct p.P366S ADAM7_uc003xec.3_Missense_Mutation_p.P138S NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA. 366 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding p.P366H(1) NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) CTCTAGCATTCCTGCACTGAA 0.348000 42 31 0 0 0.00058488 0 0 DDX42 11325 broad.mit.edu 37 17 61889390 61889390 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr17:61889390G>A uc002jbu.3 + 14 1754 c.1497G>A c.(1495-1497)ggG>ggA p.G499G DDX42_uc002jbv.3_Silent_p.G499G|DDX42_uc002jbw.1_Silent_p.G235G|DDX42_uc002jbx.3_Silent_p.G235G|DDX42_uc002jby.3_Silent_p.G45G NM_007372 NP_987095 Q86XP3 DDX42_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA. 499 Helicase C-terminal. protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3) 46 CCTCTTCAGGGAGTGTCCTCC 0.458000 89 168 0 0 0.000781405 0 0 SLITRK6 84189 broad.mit.edu 37 13 86370073 86370073 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr13:86370073G>A uc001vll.1 - 1 1030 c.571C>T c.(571-573)Cgt>Tgt p.R191C SLITRK6_uc021rla.1_Missense_Mutation_p.R191C NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA. 191 integral to membrane p.R191C(2)|p.L190I(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TGATTTCCACGAAGATCTAGA 0.388000 110 66 0 0 0.000781405 0 0 TAGLN3 29114 broad.mit.edu 37 3 111732306 111732306 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr3:111732306G>A uc003dym.3 + 4 886 c.508G>A c.(508-510)Gga>Aga p.G170R TAGLN3_uc003dyl.3_Missense_Mutation_p.G170R|TAGLN3_uc003dyn.3_Missense_Mutation_p.G170R|TAGLN3_uc003dyo.3_Missense_Mutation_p.G170R NM_001008272 NP_037391 Q9UI15 TAGL3_HUMAN Homo sapiens transgelin 3 (TAGLN3), transcript variant 2, mRNA. 170 central nervous system development|muscle organ development endometrium(2)|lung(5)|urinary_tract(1) 8 GCTTCGCCAGGGACAGAACGT 0.557000 8 41 0 0 0.00148497 0 0 MST1P2 11209 broad.mit.edu 37 1 16975699 16975699 + RNA SNP A C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:16975699A>C uc010och.2 + 9 c.1848A>C MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA. GGGGGTCTCTAGTGAAGGAGC 0.587000 22 4 0 0 0.000274275 0 0 AK302879 0 broad.mit.edu 37 15 76074702 76074702 + Missense_Mutation SNP G C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr15:76074702G>C uc010umm.1 + 8 774 c.697G>C c.(697-699)Gag>Cag p.E233Q DNM1P35_uc021sqp.1_Intron|DQ582939_uc002bba.1_5'Flank|DQ582208_uc021sqs.1_5'Flank SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6; CCGGTGGCAGGAGAGGATGTG 0.488000 45 4 0 0 0.00116845 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74876892 74876892 + Nonsense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr11:74876892C>T uc001owb.3 + 3 741 c.346C>T c.(346-348)Cga>Tga p.R116* SLCO2B1_uc010rrq.2_Intron|SLCO2B1_uc010rrr.2_Intron|SLCO2B1_uc010rrs.2_5'UTR|SLCO2B1_uc001owc.3_5'UTR|SLCO2B1_uc001owd.3_Nonsense_Mutation_p.R94* NM_007256 NP_001138683 O94956 SO2B1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA. 116 sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity p.R116L(1) breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) GCACCGACCCCGAATGATTGG 0.572000 20 71 0 0 0.000781405 0 0 SUSD1 64420 broad.mit.edu 37 9 114905867 114905867 + Missense_Mutation SNP T C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr9:114905867T>C uc010mui.3 - 3 451 c.410A>G c.(409-411)cAt>cGt p.H137R MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Missense_Mutation_p.H137R|SUSD1_uc010muj.3_Missense_Mutation_p.H137R Q6UWL2 SUSD1_HUMAN Homo sapiens sushi domain containing 1 (SUSD1), mRNA. 137 EGF-like 3; calcium-binding (Potential). integral to membrane calcium ion binding p.H137Y(1) SUSD1/ROD1(2) central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 TCGCCCTCCATGCCTGCACAG 0.453000 187 24 0 0 0.000878237 0 0 RP1 6101 broad.mit.edu 37 8 55540307 55540307 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:55540307G>A uc003xsd.1 + 3 4013 c.3865G>A c.(3865-3867)Gat>Aat p.D1289N RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 1289 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TTATGGTGTGGATCAGACTTC 0.408000 121 77 0 0 0.000781405 0 0 NXF5 55998 broad.mit.edu 37 X 101096040 101096040 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chrX:101096040C>T uc011mrk.1 - 7 788 c.428G>A c.(427-429)cGa>cAa p.R143Q NXF5_uc004eih.1_Non-coding_Transcript|NXF5_uc004eii.1_Non-coding_Transcript|NXF5_uc004eij.1_Non-coding_Transcript|NXF5_uc004eik.1_Non-coding_Transcript|NXF5_uc004eil.1_Non-coding_Transcript NM_032946 NP_116564 Q9H1B4 NXF5_HUMAN Homo sapiens nuclear RNA export factor 5 (NXF5), transcript variant 1, mRNA. 143 mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding p.R143Q(2) breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1) 30 GCAGTTTCTTCGATTCAGGAT 0.522000 85 63 0 0 0.000781405 0 0 TTN 7273 broad.mit.edu 37 2 179495596 179495596 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:179495596C>T uc021vsy.1 - 186 36610 c.36385G>A c.(36385-36387)Gaa>Aaa p.E12129K MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E5824K|TTN_uc021vta.1_Missense_Mutation_p.E5757K|TTN_uc021vtb.1_Missense_Mutation_p.E5632K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 13056 Ig-like 80. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCAGAGATTTCGGTTTCAAAG 0.493000 62 17 0 0 0.000566183 0 0 PGD 5226 broad.mit.edu 37 1 10464254 10464254 + Missense_Mutation SNP T G G TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:10464254T>G uc001arc.3 + 4 457 c.367T>G c.(367-369)Ttt>Gtt p.F123V PGD_uc010oak.2_Missense_Mutation_p.F101V NM_002631 NP_002622 P52209 6PGD_HUMAN Homo sapiens phosphogluconate dehydrogenase (PGD), mRNA. 123 pentose-phosphate shunt, oxidative branch cytosol NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 14 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487) GGGAATTTTATTTGTGGGGAG 0.493000 48 31 0 0 0.00283554 0 0 SLC16A2 6567 broad.mit.edu 37 X 73751372 73751372 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chrX:73751372C>T uc004ebt.2 + 5 1992 c.1826C>T c.(1825-1827)cCt>cTt p.P609L SLC16A2_uc010nlr.1_3'UTR NM_006517 NP_006508 P36021 MOT8_HUMAN Homo sapiens solute carrier family 16, member 2 (monocarboxylic acid transporter 8) (SLC16A2), mRNA. 535 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity p.P609P(1) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 21 Pyruvic acid(DB00119) TCCCCCAACCCTGAGGAACCA 0.532000 12 14 0 0 0.00244969 0 0 CUX1 1523 broad.mit.edu 37 7 101845040 101845040 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:101845040G>A uc003uys.4 + 17 2623 c.2496G>A c.(2494-2496)aaG>aaA p.K832K CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Silent_p.K821K NM_001202543 NP_001189472 P39880 CUX1_HUMAN Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA. 821 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 GTGCCTGGAAGGACCACTGGT 0.672000 26 8 0 0 0.000274275 0 0 LEPR 3953 broad.mit.edu 37 1 66083769 66083769 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:66083769G>A uc001dci.3 + 15 2724 c.2335G>A c.(2335-2337)Gaa>Aaa p.E779K LEPR_uc001dcg.3_Missense_Mutation_p.E779K|LEPR_uc001dch.3_Missense_Mutation_p.E779K|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Missense_Mutation_p.E779K|LEPR_uc001dcj.3_Missense_Mutation_p.E779K|LEPR_uc001dck.3_Missense_Mutation_p.E779K NM_002303 NP_002294 P48357 LEPR_HUMAN Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA. 779 Fibronectin type-III 4. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) AAATCTTAATGAAGATGGTGA 0.313000 83 15 0 0 0.000566183 0 0 CRIP2 1397 broad.mit.edu 37 14 105944790 105944790 + Missense_Mutation SNP G C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr14:105944790G>C uc001yrd.1 + 2 211 c.142G>C c.(142-144)Gac>Cac p.D48H CRIP2_uc010tyr.1_Missense_Mutation_p.D122H|CRIP2_uc001yrc.2_Non-coding_Transcript|CRIP2_uc001yrf.1_Non-coding_Transcript|CRIP2_uc001yrg.2_Non-coding_Transcript NM_001312 NP_001303 P52943 CRIP2_HUMAN Homo sapiens cysteine-rich protein 2 (CRIP2), mRNA. 48 LIM zinc-binding 1. zinc ion binding lung(2) 2 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.235) TGCGCAGCATGACGGGAAGCC 0.741000 6 3 0 0 6.4e-05 0 0 STMN4 81551 broad.mit.edu 37 8 27098674 27098674 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:27098674G>A uc011lak.2 - 4 410 c.296C>T c.(295-297)tCc>tTc p.S99F STMN4_uc003xfj.3_Missense_Mutation_p.S99F|STMN4_uc011lai.2_Missense_Mutation_p.S99F|STMN4_uc011laj.2_Missense_Mutation_p.S63F|STMN4_uc003xfk.3_Missense_Mutation_p.S72F|STMN4_uc010luo.3_Missense_Mutation_p.S72F NM_030795 NP_110422 Q9H169 STMN4_HUMAN Homo sapiens stathmin-like 4 (STMN4), mRNA. 72 intracellular signal transduction endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1) 11 Ovarian(32;0.00167) UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142) CCCATCAAAGGAGGGTGGCTT 0.557000 67 69 0 0 0.000781405 0 0 LAMB4 22798 broad.mit.edu 37 7 107674720 107674720 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:107674720C>T uc010ljo.1 - 30 4835 c.4751G>A c.(4750-4752)gGa>gAa p.G1584E LAMB4_uc003vey.2_Missense_Mutation_p.G1584E|LAMB4_uc010ljp.1_Missense_Mutation_p.G553E NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN Homo sapiens laminin, beta 4 (LAMB4), mRNA. 1584 Domain I. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 GTTTGCCCGTCCTTGAGTGAT 0.333000 67 90 0 0 0.000781405 0 0 HERC3 8916 broad.mit.edu 37 4 89571022 89571022 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr4:89571022C>T uc003hrw.1 + 3 424 c.258C>T c.(256-258)atC>atT p.I86I HERC3_uc003hrv.3_Silent_p.I86I|HERC3_uc011cdn.1_5'UTR NM_014606 NP_055421 Q15034 HERC3_HUMAN Homo sapiens hect domain and RLD 3 (HERC3), mRNA. 86 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity p.I86M(2) NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2) 45 OV - Ovarian serous cystadenocarcinoma(123;0.000319) ATCAGCATATCATTCATGTGG 0.498000 60 28 0 0 0.001512 0 0 LOC442459 442459 broad.mit.edu 37 X 98975170 98975170 + RNA SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chrX:98975170C>T uc011mrd.1 - 7 c.1173G>A Homo sapiens X-ray repair complementing defective repair pseudogene (LOC442459), non-coding RNA. TCTTCTGTTTCCTCTTTCTCC 0.453000 2 16 0 0 0.000566183 0 0 SART3 9733 broad.mit.edu 37 12 108932790 108932790 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:108932790G>A uc001tmz.1 - 6 1217 c.982C>T c.(982-984)Cgc>Tgc p.R328C SART3_uc001tmy.1_5'UTR|SART3_uc009zux.1_5'UTR|SART3_uc010swx.1_Missense_Mutation_p.R328C|SART3_uc010swy.1_Missense_Mutation_p.R214C|SART3_uc010swz.1_Missense_Mutation_p.R328C|SART3_uc001tna.1_Non-coding_Transcript NM_014706 NP_055521 Q15020 SART3_HUMAN Homo sapiens squamous cell carcinoma antigen recognized by T cells 3 (SART3), mRNA. 328 RNA processing cytoplasm|nuclear speck RNA binding|nucleotide binding|protein binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1) 25 AACTGAATGCGAGCAGGATCG 0.453000 Porokeratosis 19 14 0 0 0.00185496 0 0 KCNS3 3790 broad.mit.edu 37 2 18113306 18113306 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:18113306C>T uc021veh.1 + 0 1031 c.1031C>T c.(1030-1032)tCc>tTc p.S344F KCNS3_uc002rcv.3_Missense_Mutation_p.S344F|KCNS3_uc002rcw.3_Missense_Mutation_p.S344F NM_002252 NP_002243 Q9BQ31 KCNS3_HUMAN Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA. 344 energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CTTATCTACTCCGTGGAGAAA 0.537000 34 31 0 0 0.00178596 0 0 TUBBP5 643224 broad.mit.edu 37 9 141070218 141070218 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr9:141070218C>T uc010ncq.3 + 3 1298 c.458C>T c.(457-459)tCc>tTc p.S153F Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA. AGCTCAAAATCCAGGAACGCT 0.617000 7 7 0 0 0.000274275 0 0 TNFRSF9 3604 broad.mit.edu 37 1 7998374 7998374 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:7998374C>T uc001aot.3 - 4 486 c.225G>A c.(223-225)agG>agA p.R75R NM_001561 NP_001552 Q07011 TNR9_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA. 75 induction of apoptosis|negative regulation of cell proliferation integral to plasma membrane binding|receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 Ovarian(185;0.0634)|all_lung(157;0.151) all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649) AACACTCCTTCCTGGTCCTGA 0.493000 48 11 0 0 0.00185496 0 0 OR2D3 120775 broad.mit.edu 37 11 6942547 6942547 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr11:6942547G>A uc010rav.2 + 0 315 c.315G>A c.(313-315)agG>agA p.R105R NM_001004684 NP_001004684 Q8NGH3 OR2D3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily D, member 3 (OR2D3), mRNA. 105 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1) 27 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TGGTAAAGAGGAAAACCATTT 0.418000 22 71 0 0 0.000781405 0 0 DNAH2 146754 broad.mit.edu 37 17 7671273 7671273 + Nonsense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr17:7671273G>A uc002giu.1 + 21 3745 c.3731G>A c.(3730-3732)tGg>tAg p.W1244* NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 1244 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) GAGGAGAACTGGAATGAGTGG 0.577000 16 14 0 0 0.00244969 0 0 G6PC2 57818 broad.mit.edu 37 2 169764518 169764518 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:169764518C>T uc002uem.3 + 4 1089 c.997C>T c.(997-999)Cta>Tta p.L333L G6PC2_uc002uen.3_3'UTR|G6PC2_uc010fpv.3_Silent_p.L217L NM_021176 NP_066999 Q9NQR9 G6PC2_HUMAN Homo sapiens glucose-6-phosphatase, catalytic, 2 (G6PC2), transcript variant 1, mRNA. 333 gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport endoplasmic reticulum membrane|integral to membrane glucose-6-phosphatase activity breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 13 ATCCATTCCCCTAACTGTGGT 0.423000 33 42 0 0 0.00222228 0 0 SLC25A48 153328 broad.mit.edu 37 5 135188281 135188281 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr5:135188281C>T uc003laz.1 + 3 364 c.192C>T c.(190-192)ttC>ttT p.F64F SLC25A48_uc003lba.3_Silent_p.F64F Q6ZT89 S2548_HUMAN Homo sapiens solute carrier family 25, member 48 (SLC25A48), nuclear gene encoding mitochondrial protein, mRNA. 64 transmembrane transport integral to membrane|mitochondrial inner membrane binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 GCATGTCCTTCCCCCTCGCCA 0.627000 119 24 0 0 0.000586117 0 0 UNC5CL 222643 broad.mit.edu 37 6 41001787 41001787 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr6:41001787G>A uc003opi.3 - 2 618 c.519C>T c.(517-519)ttC>ttT p.F173F UNC5CL_uc010jxe.1_Silent_p.F173F NM_173561 NP_775832 Q8IV45 UN5CL_HUMAN Homo sapiens unc-5 homolog C (C. elegans)-like (UNC5CL), mRNA. 173 ZU5. signal transduction cytoplasm|integral to membrane endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 13 Ovarian(28;0.0418)|Colorectal(47;0.196) AAGGCTTCAGGAAGGAGGCCC 0.617000 44 7 0 0 0.000157383 0 0 KIAA2013 90231 broad.mit.edu 37 1 11985629 11985629 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:11985629C>T uc001atl.2 - 0 857 c.666G>A c.(664-666)ggG>ggA p.G222G KIAA2013_uc001atk.3_Silent_p.G222G NM_138346 NP_612355 Q8IYS2 K2013_HUMAN Homo sapiens KIAA2013 (KIAA2013), mRNA. 222 integral to membrane endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 7 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CGGCAGTGGGCCCCACAGTCT 0.672000 10 12 0 0 0.00244969 0 0 ADAMTS4 9507 broad.mit.edu 37 1 161168006 161168006 + Missense_Mutation SNP A C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:161168006A>C uc001fyt.4 - 0 840 c.412T>G c.(412-414)Tcg>Gcg p.S138A ADAMTS4_uc001fyu.2_Missense_Mutation_p.S138A|NDUFS2_uc001fyv.3_5'Flank NM_005099 NP_005090 O75173 ATS4_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 4 (ADAMTS4), mRNA. 138 proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1) 43 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GATGCCACCGACTCCGGATCT 0.637000 43 22 0 0 0.00047179 0 0 PCLO 27445 broad.mit.edu 37 7 82785179 82785180 + Missense_Mutation DNP CC TT TT TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:82785179_82785180CC>TT uc003uhx.2 - 1 1066_1067 c.777_778GG>AA c.(775-780)cagggt>caAAgt p.G260S PCLO_uc003uhv.2_Missense_Mutation_p.G260S NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 260 Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TGGGTAGGACCCTGAATTGGCT 0.470000 36 28 0 0 6.4e-05 0 0 FAM120A 23196 broad.mit.edu 37 9 96323390 96323390 + Splice_Site SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr9:96323390G>A uc004atw.3 + 16 2832 c.2807_splice c.e16-1 p.G936_splice FAM120A_uc004aty.3_Splice_Site_p.G717_splice|FAM120A_uc004atz.3_Splice_Site_p.G584_splice|FAM120A_uc010mrg.3_Splice_Site_p.G203_splice|FAM120A_uc004aua.1_5'Flank NM_014612 NP_055427 Q9NZB2 F120A_HUMAN Homo sapiens family with sequence similarity 120A (FAM120A), mRNA. 936 RNA binding. cytoplasm|plasma membrane RNA binding endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 TTTTTATGCAGGAGTCCAACC 0.443000 51 17 0 0 0.000958276 0 0 NOTCH2 4853 broad.mit.edu 37 1 120458966 120458966 + Nonsense_Mutation SNP T A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:120458966T>A uc001eik.3 - 33 6676 c.6379A>T c.(6379-6381)Aag>Tag p.K2127* NM_024408 NP_077719 Q04721 NOTC2_HUMAN Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA. 2127 Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) CTACTACCCTTGGCATCCTTT 0.512000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 460 140 0 0 0.000781405 0 0 NLRP4 147945 broad.mit.edu 37 19 56369580 56369580 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:56369580C>T uc002qmd.4 + 2 1243 c.821C>T c.(820-822)tCc>tTc p.S274F NLRP4_uc002qmf.3_Missense_Mutation_p.S199F|NLRP4_uc010etf.3_Missense_Mutation_p.S105F NM_134444 NP_604393 Q96MN2 NALP4_HUMAN Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA. 274 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CCGGAGGCCTCCCTGCTCATC 0.567000 45 23 0 0 0.00278032 0 0 SFRP2 6423 broad.mit.edu 37 4 154702764 154702764 + Missense_Mutation SNP A T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr4:154702764A>T uc003inv.1 - 2 968 c.727T>A c.(727-729)Ttg>Atg p.L243M NM_003013 NP_003004 Q96HF1 SFRP2_HUMAN Homo sapiens secreted frizzled-related protein 2 (SFRP2), mRNA. 243 NTR. brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development cytoplasm|extracellular matrix|extracellular space|plasma membrane PDZ domain binding|Wnt receptor activity|Wnt-protein binding|fibronectin binding|integrin binding|receptor agonist activity breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 16 all_hematologic(180;0.093) Renal(120;0.117) GTGCACTGCAAGCTGTCTTTG 0.532000 47 27 0 0 0.000586117 0 0 RP1L1 94137 broad.mit.edu 37 8 10466326 10466327 + Missense_Mutation DNP CC AA AA TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:10466326_10466327CC>AA uc003wtc.3 - 3 5510_5511 c.5281_5282GG>TT c.(5281-5283)ggg>TTg p.G1761L NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 1761 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CTCTGCCTCCCCGAGTTTGGGA 0.624000 233 10 0 0 6.4e-05 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112694228 112694228 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr9:112694228C>T uc004bei.2 + 5 608 c.416C>T c.(415-417)tCc>tTc p.S139F PALM2-AKAP2_uc004beg.3_Intron|PALM2-AKAP2_uc004beh.4_Missense_Mutation_p.S139F|PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.S139F|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.S139F|PALM2-AKAP2_uc004bel.1_Intron NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA. 0 enzyme binding p.S138F(1) breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 TACATTTCCTCCCAGCTTCCC 0.542000 193 74 0 0 0.000781405 0 0 PCDHB10 56126 broad.mit.edu 37 5 140572167 140572167 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr5:140572167C>T uc003lix.3 + 0 216 c.42C>T c.(40-42)gtC>gtT p.V14V NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN Homo sapiens protocadherin beta 10 (PCDHB10), mRNA. 14 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAAGGCAAGTCCTGTTTCTTT 0.463000 72 93 0 0 0.000781405 0 0 FLI1 2313 broad.mit.edu 37 11 128680668 128680668 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr11:128680668C>T uc010sbu.2 + 8 1487 c.1144C>T c.(1144-1146)Cct>Tct p.P382S FLI1_uc010sbt.2_Missense_Mutation_p.P189S|FLI1_uc010sbv.2_Missense_Mutation_p.P349S|FLI1_uc009zci.3_Missense_Mutation_p.P316S NM_002017 NP_001161153 Q01543 FLI1_HUMAN Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA. 382 hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2569) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2) 31 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) GTACAAGTACCCTTCTGACAT 0.527000 T EWSR1 Ewing sarcoma 7 16 0 0 0.000422831 0 0 ZDHHC4 55146 broad.mit.edu 37 7 6624884 6624884 + Missense_Mutation SNP T C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:6624884T>C uc003sqi.3 + 7 1092 c.734T>C c.(733-735)cTt>cCt p.L245P ZDHHC4_uc003sql.3_Missense_Mutation_p.L245P|ZDHHC4_uc003sqj.3_Missense_Mutation_p.L245P|ZDHHC4_uc003sqh.3_Missense_Mutation_p.L245P NM_001134388 NP_060576 Q9NPG8 ZDHC4_HUMAN Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA. 245 integral to membrane acyltransferase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.1) ACGGTCTTTCTTATTCAGGTA 0.413000 35 27 0 0 0.00178596 0 0 ACSS3 79611 broad.mit.edu 37 12 81568698 81568698 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:81568698G>A uc001szl.1 + 7 1321 c.1230G>A c.(1228-1230)ggG>ggA p.G410G ACSS3_uc001szm.1_Silent_p.G409G|ACSS3_uc001szn.1_Silent_p.G92G NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA. 410 mitochondrion ATP binding|acetate-CoA ligase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 CAGCTTTGGGGAAGCAGTACT 0.448000 48 17 0 0 0.00121646 0 0 FMN2 56776 broad.mit.edu 37 1 240341305 240341305 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:240341305C>T uc010pye.2 + 2 2092 c.1867C>T c.(1867-1869)Cca>Tca p.P623S FMN2_uc010pyd.2_Missense_Mutation_p.P623S NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN Homo sapiens formin 2 (FMN2), mRNA. 623 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) TAGGCGAGTTCCATCCATGGG 0.458000 11 65 0 0 0.000781405 0 0 COL15A1 1306 broad.mit.edu 37 9 101778395 101778395 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr9:101778395C>T uc004azb.1 + 10 1847 c.1641C>T c.(1639-1641)atC>atT p.I547I NM_001855 NP_001846 P39059 COFA1_HUMAN Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA. 547 4 X tandem repeats.|Nonhelical region 1 (NC1). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) AAAGATGGATCACTCCAGTAA 0.592000 21 35 0 0 0.00111076 0 0 CD163L1 283316 broad.mit.edu 37 12 7596704 7596704 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:7596704G>A uc010sge.2 - 0 46 c.20C>T c.(19-21)tCg>tTg p.S7L CD163L1_uc001qsy.3_Missense_Mutation_p.S7L NM_174941 NP_777601 Q9NR16 C163B_HUMAN Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA. 7 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 AATATGCCACGAGTTTTGAGG 0.378000 43 14 0 0 0.000422831 0 0 ATP13A5 344905 broad.mit.edu 37 3 192993046 192993046 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr3:192993046C>T uc011bsq.2 - 29 3442 c.3442G>A c.(3442-3444)Gaa>Aaa p.E1148K NM_198505 NP_940907 Q4VNC0 AT135_HUMAN Homo sapiens ATPase type 13A5 (ATP13A5), mRNA. 1148 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding p.R1147R(1) NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) AATCCAAATTCTCTTTTGATC 0.413000 60 44 0 0 0.000781405 0 0 THRAP3 9967 broad.mit.edu 37 1 36754862 36754863 + Nonsense_Mutation DNP CC GT GT TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:36754862_36754863CC>GT uc001cae.4 + 4 1466_1467 c.1242_1243CC>GT c.(1240-1245)ctccga>ctGTga p.R415* THRAP3_uc001caf.4_Nonsense_Mutation_p.R415*|THRAP3_uc001cag.1_Nonsense_Mutation_p.R415* NM_005119 NP_005110 Q9Y2W1 TR150_HUMAN Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA. 415 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGTATAAGCTCCGAGATGACTT 0.436000 T USP6 aneurysmal bone cysts 34 38 0 0 6.4e-05 0 0 ACSS3 79611 broad.mit.edu 37 12 81536990 81536990 + Silent SNP T C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:81536990T>C uc001szl.1 + 4 976 c.885T>C c.(883-885)taT>taC p.Y295Y ACSS3_uc001szm.1_Silent_p.Y294Y NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA. 295 mitochondrion ATP binding|acetate-CoA ligase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 ACCCACTGTATATTCTTTACA 0.443000 50 9 0 0 0.000978159 0 0 ARL8A 127829 broad.mit.edu 37 1 202113662 202113662 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:202113662C>T uc001gxk.1 - 0 205 c.39G>A c.(37-39)aaG>aaA p.K13K NM_138795 NP_620150 Q96BM9 ARL8A_HUMAN Homo sapiens ADP-ribosylation factor-like 8A (ARL8A), transcript variant 1, mRNA. 13 cell division|chromosome segregation|mitosis|small GTPase mediated signal transduction late endosome membrane|lysosomal membrane|midbody|spindle midzone GTP binding|GTPase activity|alpha-tubulin binding|beta-tubulin binding large_intestine(1)|lung(2)|ovary(2)|skin(1) 6 AGAATAGGGCCTTGAACCAGT 0.662000 4 50 0 0 0.000781405 0 0 OR2L2 26246 broad.mit.edu 37 1 248202182 248202182 + Missense_Mutation SNP T A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:248202182T>A uc001idw.3 + 0 709 c.613T>A c.(613-615)Ttt>Att p.F205I OR2L13_uc001ids.3_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA. 205 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CAGCACCATCTTTCTTGTGCT 0.483000 201 46 0 0 0.000781405 0 0 OR4E2 26686 broad.mit.edu 37 14 22133973 22133973 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr14:22133973G>A uc010tmd.2 + 0 677 c.677G>A c.(676-678)cGa>cAa p.R226Q NM_001001912 NP_001001912 Q8NGC2 OR4E2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA. 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) GTTTCTCTTCGAAAACACTCA 0.502000 27 22 0 0 0.00188189 0 0 CCDC19 25790 broad.mit.edu 37 1 159863040 159863040 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:159863040C>T uc001fui.3 - 1 77 c.59G>A c.(58-60)aGg>aAg p.R20K CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_5'UTR|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_Missense_Mutation_p.R20K NM_012337 NP_036469 Q9UL16 CCD19_HUMAN Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA. 20 mitochondrion|soluble fraction endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 26 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) AGCCTTATTCCTTGACCTGTT 0.507000 26 160 0 0 0.000781405 0 0 SCN8A 6334 broad.mit.edu 37 12 52163097 52163097 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:52163097C>T uc001ryw.3 + 16 3528 c.3350C>T c.(3349-3351)tCg>tTg p.S1117L SCN8A_uc010snl.2_Missense_Mutation_p.S1117L NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA. 1117 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) AGCAGCGAGTCGGATCCTGAA 0.517000 22 12 0 0 0.00244969 0 0 CAV1 857 broad.mit.edu 37 7 116166591 116166591 + Missense_Mutation SNP A G G TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:116166591A>G uc003vif.2 + 1 321 c.43A>G c.(43-45)Acc>Gcc p.T15A CAV1_uc010lke.2_5'UTR|CAV1_uc010lkd.2_5'UTR|CAV1_uc003vig.2_5'UTR|CAV1_uc003vih.3_5'UTR|CAV1_uc010lkf.2_5'UTR NM_001753 NP_001166368 Q03135 CAV1_HUMAN Homo sapiens caveolin 1, caveolae protein, 22kDa (CAV1), transcript variant 1, mRNA. 15 T cell costimulation|blood coagulation|calcium ion transport|caveola assembly|cellular response to starvation|cholesterol homeostasis|cytosolic calcium ion homeostasis|inactivation of MAPK activity|interspecies interaction between organisms|leukocyte migration|lipid storage|maintenance of protein location in cell|mammary gland involution|membrane depolarization|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of endothelial cell proliferation|negative regulation of epithelial cell differentiation|negative regulation of nitric oxide biosynthetic process|negative regulation of peptidyl-serine phosphorylation|negative regulation of protein binding|negative regulation of transcription from RNA polymerase II promoter|nitric oxide homeostasis|nitric oxide metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of metalloenzyme activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of vasoconstriction|protein homooligomerization|receptor internalization|regulation of blood coagulation|regulation of fatty acid metabolic process|regulation of nitric-oxide synthase activity|regulation of smooth muscle contraction|response to calcium ion|response to estrogen stimulus|response to hypoxia|response to progesterone stimulus|skeletal muscle tissue development|triglyceride metabolic process|vasculogenesis|vesicle organization Golgi membrane|apical plasma membrane|basolateral plasma membrane|caveola|cytosol|endoplasmic reticulum|endosome|lipid particle|perinuclear region of cytoplasm cholesterol binding|nitric-oxide synthase binding|peptidase activator activity|protein binding|protein complex scaffold|receptor binding endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609) STAD - Stomach adenocarcinoma(10;0.00878) ACATCTCTACACCGTTCCCAT 0.592000 OREG0018273 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 28 0 0 0.00209593 0 0 CYP4B1 1580 broad.mit.edu 37 1 47282822 47282822 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:47282822C>T uc001cqn.4 + 8 1260 c.1176C>T c.(1174-1176)gtC>gtT p.V392V CYP4B1_uc001cqm.4_Silent_p.V391V|CYP4B1_uc009vym.3_Silent_p.V377V|CYP4B1_uc010omk.2_Silent_p.V228V NM_001099772 NP_001093242 P13584 CP4B1_HUMAN Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA. 391 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) GCAAGCCTGTCACCTTTGTGG 0.567000 30 29 0 0 0.00106085 0 0 SUFU 51684 broad.mit.edu 37 10 104264003 104264003 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr10:104264003C>T uc001kvy.2 + 0 285 c.94C>T c.(94-96)Ccg>Tcg p.P32S SUFU_uc001kvw.2_Missense_Mutation_p.P32S|SUFU_uc001kvx.3_Missense_Mutation_p.P32S|ACTR1A_uc001kvv.3_5'Flank|ACTR1A_uc010qqn.2_5'Flank|ACTR1A_uc010qqo.2_5'Flank NM_016169 NP_057253 Q9UMX1 SUFU_HUMAN Homo sapiens suppressor of fused homolog (Drosophila) (SUFU), transcript variant 1, mRNA. 32 negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development cytoplasm|nucleus identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 24 Colorectal(252;0.207) Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242) GCTCTTTCCCCCGGGACTGCA 0.716000 """D, F, S""" medulloblastoma medulloblastoma Medulloblastoma, associated with Germline SUFU Mutation 4 8 0 0 0.000157383 0 0 DBF4B 80174 broad.mit.edu 37 17 42828218 42828218 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr17:42828218C>T uc002ihf.3 + 13 1658 c.1445C>T c.(1444-1446)tCc>tTc p.S482F DBF4B_uc010wjc.2_Intron NM_145663 NP_663696 Q8NFT6 DBF4B_HUMAN Homo sapiens DBF4 homolog B (S. cerevisiae) (DBF4B), transcript variant 1, mRNA. 482 cell cycle nucleus nucleic acid binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5) 7 Prostate(33;0.0322) CAAGAAAACTCCTTTGCCCCG 0.587000 30 32 0 0 0.00058488 0 0 DENND1A 57706 broad.mit.edu 37 9 126214555 126214555 + Splice_Site SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr9:126214555G>A uc011lzm.1 - 15 1417 c.1203_splice c.e15+1 p.F401_splice DENND1A_uc011lzl.1_Splice_Site_p.F208_splice|DENND1A_uc004bny.1_Splice_Site_p.F172_splice|DENND1A_uc004bnz.1_Splice_Site_p.F433_splice|DENND1A_uc004boa.1_Splice_Site_p.F433_splice|DENND1A_uc004bob.1_Splice_Site_p.F403_splice|DENND1A_uc004boc.3_Splice_Site_p.F401_splice NM_020946 NP_065997 Q8TEH3 DEN1A_HUMAN Homo sapiens DENN/MADD domain containing 1A (DENND1A), transcript variant 1, mRNA. 433 cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 CAGTACTTACGAACTTGTAGA 0.378000 78 30 0 0 0.000692331 0 0 ESRRA 2101 broad.mit.edu 37 11 64074719 64074719 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr11:64074719C>T uc001nzq.1 + 1 245 c.68C>T c.(67-69)cCa>cTa p.P23L ESRRA_uc001nzr.1_Missense_Mutation_p.P23L|ESRRA_uc001nzs.1_Missense_Mutation_p.P23L NM_004451 NP_004442 P11474 ERR1_HUMAN Homo sapiens estrogen-related receptor alpha (ESRRA), mRNA. 23 Repressor domain. positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(4)|lung(8) 14 CCTGACAGTCCAAAGGGTTCC 0.647000 6 15 0 0 0.000422831 0 0 CACNA2D2 9254 broad.mit.edu 37 3 50431573 50431574 + Missense_Mutation DNP GA AT AT TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr3:50431573_50431574GA>AT uc003daq.3 - 3 469_470 c.431_432TC>AT c.(430-432)ttc>tAT p.F144Y CACNA2D2_uc003dap.3_Missense_Mutation_p.F144Y NM_001174051 NP_001167522 Q9NY47 CA2D2_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA. 144 energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) GTGCTTTCTGGAAGTTCTCTGC 0.589000 7 19 0 0 6.4e-05 0 0 RBBP6 5930 broad.mit.edu 37 16 24566945 24566945 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr16:24566945C>T uc002dmh.3 + 4 1398 c.358C>T c.(358-360)Ctg>Ttg p.L120L RBBP6_uc010vcb.1_5'UTR|RBBP6_uc002dmi.3_Silent_p.L120L|RBBP6_uc010bxr.3_Silent_p.L120L|RBBP6_uc002dmk.3_5'UTR NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA. 120 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) GACTGCCAATCTGGCTGAAGC 0.373000 52 52 0 0 0.000781405 0 0 SACS 26278 broad.mit.edu 37 13 23929489 23929489 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr13:23929489C>T uc001uon.2 - 7 1851 c.1262G>A c.(1261-1263)gGa>gAa p.G421E SACS_uc001uoo.2_Missense_Mutation_p.G274E|SACS_uc001uop.1_Missense_Mutation_p.G208E|SACS_uc001uoq.1_Missense_Mutation_p.G274E NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA. 421 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CATGGCTATTCCAATGATTGG 0.433000 65 29 0 0 0.00209593 0 0 OTOGL 283310 broad.mit.edu 37 12 80729888 80729888 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:80729888G>A uc001szd.3 + 37 4547 c.4541G>A c.(4540-4542)aGt>aAt p.S1514N NM_173591 NP_775862 Homo sapiens otogelin-like (OTOGL), mRNA. breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 CAAGTGAACAGTGATATCTGC 0.403000 14 21 0 0 0.00047179 0 0 PADI4 23569 broad.mit.edu 37 1 17682880 17682881 + Missense_Mutation DNP GG AA AA TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:17682880_17682881GG>AA uc001baj.2 + 12 1512_1513 c.1484_1485GG>AA c.(1483-1485)agg>aAA p.R495K NM_012387 NP_036519 Q9UM07 PADI4_HUMAN Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA. 495 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3) 26 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) GCCAGCCCCAGGTCCTGCTACA 0.609000 7 10 0 0 6.4e-05 0 0 KCNAB2 8514 broad.mit.edu 37 1 6142263 6142263 + Missense_Mutation SNP G C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:6142263G>C uc009vlv.2 + 5 753 c.210G>C c.(208-210)gaG>gaC p.E70D KCNAB2_uc001alv.2_Missense_Mutation_p.E70D|KCNAB2_uc001alw.2_Missense_Mutation_p.E56D|KCNAB2_uc001alx.2_Missense_Mutation_p.E70D|KCNAB2_uc001aly.2_Missense_Mutation_p.E103D|KCNAB2_uc009vlw.2_Missense_Mutation_p.E3D|KCNAB2_uc001alu.3_Missense_Mutation_p.E70D NM_001199861 NP_001186790 Q13303 KCAB2_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 2 (KCNAB2), transcript variant 4, mRNA. 70 cytoplasm|integral to membrane|juxtaparanode region of axon oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity large_intestine(1)|lung(4)|skin(3) 8 Ovarian(185;0.0634) all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211) Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649) AGATGGCAGAGCAGCTCATGA 0.582000 82 19 0 0 0.00152264 0 0 ESF1 51575 broad.mit.edu 37 20 13752051 13752052 + Missense_Mutation DNP CG AT AT TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr20:13752051_13752052CG>AT uc002woj.3 - 5 1436_1437 c.1328_1329CG>AT c.(1327-1329)ccg>cAT p.P443H ESF1_uc002wok.1_Missense_Mutation_p.P443H NM_016649 NP_057733 Q9H501 ESF1_HUMAN Homo sapiens ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) (ESF1), mRNA. 443 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1) 31 TAGCTGTTTCCGGAGAATCACA 0.337000 332 6 0 0 6.4e-05 0 0 CEP89 84902 broad.mit.edu 37 19 33444520 33444520 + Splice_Site SNP C A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:33444520C>A uc002nty.3 - 4 581 c.492_splice c.e4+1 p.Q164_splice CEP89_uc002ntx.3_Splice_Site|CEP89_uc010edg.3_Splice_Site|CEP89_uc002nua.3_Splice_Site_p.Q164_splice|CEP89_uc002nub.1_Splice_Site_p.Q56_splice NM_032816 NP_116205 Q96ST8 CEP89_HUMAN Homo sapiens centrosomal protein 89kDa (CEP89), mRNA. 164 centrosome|spindle pole breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 35 ATAGAAAACACCTGATTTCTG 0.463000 517 21 1.1804e-14 4.80494e-14 0.000586117 1 0 VN1R4 317703 broad.mit.edu 37 19 53770866 53770866 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:53770866C>T uc010ydu.2 - 0 53 c.53G>A c.(52-54)gGa>gAa p.G18E NM_173857 NP_776256 Q7Z5H5 VN1R4_HUMAN Homo sapiens vomeronasal 1 receptor 4 (VN1R4), mRNA. 18 response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 22 GBM - Glioblastoma multiforme(134;0.00294) CCCCAGGACTCCCACCACGGT 0.498000 HNSCC(26;0.072) 51 19 0 0 0.000958276 0 0 AKR1B15 441282 broad.mit.edu 37 7 134254185 134254185 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:134254185G>A uc011kpr.2 + 4 638 c.339G>A c.(337-339)gaG>gaA p.E113E NM_001080538 NP_001074007 C9JRZ8 AK1BF_HUMAN Homo sapiens aldo-keto reductase family 1, member B15 (AKR1B15), mRNA. 113 oxidoreductase activity endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1) 18 CTTTCTTTGAGAGACCCCTTG 0.463000 53 64 0 0 0.000781405 0 0 FRS3 10817 broad.mit.edu 37 6 41740577 41740577 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr6:41740577G>A uc003orc.1 - 4 618 c.374C>T c.(373-375)cCc>cTc p.P125L NM_006653 NP_006644 O43559 FRS3_HUMAN Homo sapiens fibroblast growth factor receptor substrate 3 (FRS3), mRNA. 125 fibroblast growth factor receptor signaling pathway plasma membrane fibroblast growth factor receptor binding|insulin receptor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) AAGCTCAGCGGGGTGGCTATT 0.572000 70 78 0 0 0.000781405 0 0 MCM6 4175 broad.mit.edu 37 2 136630274 136630274 + Missense_Mutation SNP A G G TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:136630274A>G uc002tuw.3 - 1 323 c.247T>C c.(247-249)Ttc>Ctc p.F83L NM_005915 NP_005906 Q14566 MCM6_HUMAN Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA. 83 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint MCM complex ATP binding|identical protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) TACCTATAGAACTCCTCTTGA 0.428000 40 13 0 0 0.00185496 0 0 SEMA5A 9037 broad.mit.edu 37 5 9044626 9044626 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr5:9044626G>A uc003jek.2 - 21 3676 c.2964C>T c.(2962-2964)ctC>ctT p.L988L NM_003966 NP_003957 Q13591 SEM5A_HUMAN Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA. 988 cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 AAGTATAGACGAGCAGGGTGA 0.562000 30 56 0 0 0.000781405 0 0 UVSSA 57654 broad.mit.edu 37 4 1360164 1360165 + Missense_Mutation DNP CC TT TT TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr4:1360164_1360165CC>TT uc003gde.4 + 7 1680_1681 c.1233_1234CC>TT c.(1231-1236)gtccct>gtTTct p.P412S UVSSA_uc010ibv.3_5'UTR NM_020894 NP_065945 Q2YD98 K1530_HUMAN Homo sapiens KIAA1530 (KIAA1530), mRNA. 412 TTGTGGAGGTCCCTGAGAAGGA 0.609000 124 63 0 0 6.4e-05 0 0 ABCC12 94160 broad.mit.edu 37 16 48117931 48117931 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr16:48117931C>T uc002efc.1 - 27 4228 c.3882G>A c.(3880-3882)ctG>ctA p.L1294L ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript NM_033226 NP_150229 Q96J65 MRP9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA. 1294 ABC transporter 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) TGTTCTGAACCAGGGTGTCAG 0.527000 76 23 0 0 0.00047179 0 0 ABRA 137735 broad.mit.edu 37 8 107782392 107782392 + Silent SNP C T T rs138488793 TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:107782392C>T uc003ymm.4 - 0 81 c.27G>A c.(25-27)ggG>ggA p.G9G NM_139166 NP_631905 Q8N0Z2 ABRA_HUMAN Homo sapiens actin-binding Rho activating protein (ABRA), mRNA. 9 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding p.S8I(1) breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2) 27 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) CTGGGCCCTCCCCGCTTTCCT 0.607000 87 13 0 0 0.000422831 0 0 ADCY8 114 broad.mit.edu 37 8 131848660 131848660 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:131848660G>A uc003ytd.4 - 11 2794 c.2538C>T c.(2536-2538)acC>acT p.T846T ADCY8_uc010mds.3_Silent_p.T715T NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 846 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) AAACTGCACAGGTCACCATGG 0.557000 HNSCC(32;0.087) 44 24 0 0 0.00278032 0 0 MRPS7 51081 broad.mit.edu 37 17 73259559 73259559 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr17:73259559C>T uc002jnm.4 + 3 711 c.478C>T c.(478-480)Ccc>Tcc p.P160S GGA3_uc002jnk.2_5'Flank|GGA3_uc002jni.2_5'Flank|GGA3_uc002jnj.2_5'Flank|GGA3_uc010wry.2_5'Flank|GGA3_uc010wrw.2_5'Flank|GGA3_uc010wrx.2_5'Flank|GGA3_uc010wrz.2_5'Flank NM_015971 NP_057055 Q9Y2R9 RT07_HUMAN Homo sapiens mitochondrial ribosomal protein S7 (MRPS7), nuclear gene encoding mitochondrial protein, mRNA. 160 translation cytosolic small ribosomal subunit|mitochondrion RNA binding|protein binding|structural constituent of ribosome breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2) 6 all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07) all cancers(21;3.02e-07)|Epithelial(20;2.92e-06) TGGGCTGGTACCCATCCTCAA 0.532000 250 56 0 0 0.000781405 0 0 PPP1R26 9858 broad.mit.edu 37 9 138377022 138377022 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr9:138377022C>T uc022bpi.1 + 0 666 c.666C>T c.(664-666)ttC>ttT p.F222F PPP1R26_uc004cfr.1_Silent_p.F222F NM_014811 NP_055626 Q5T8A7 K0649_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA. 222 nucleolus protein binding ATGACTCCTTCGAGCAGAGCA 0.552000 81 31 0 0 0.000692331 0 0 BRAF 673 broad.mit.edu 37 7 140453134 140453134 + Missense_Mutation SNP T C C rs121913377 TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:140453134T>C uc003vwc.4 - 14 1862 c.1801A>G c.(1801-1803)Aaa>Gaa p.K601E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 601 Protein kinase. K -> E (in colorectal cancer).|K -> Q (in CFC syndrome). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(25751)|p.V600?(377)|p.V600K(363)|p.K601E(117)|p.V600R(55)|p.V600_K601>E(30)|p.V600L(28)|p.V600D(24)|p.V600M(22)|p.V600A(12)|p.K601N(12)|p.V600G(11)|p.T599_V600insT(7)|p.K601del(5)|p.T599_R603>I(4)|p.K601Q(3)|p.T599_V600insTT(3)|p.V600Q(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.K601K(1)|p.K601L(1)|p.K601R(1)|p.V600V(1)|p.T599_V600insDFGLAT(1)|p.T599_V600insV(1)|p.K601I(1)|p.V600>DLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) CATCGAGATTTCACTGTAGCT 0.368000 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 49 55 0 0 0.000781405 0 0 MUSK 4593 broad.mit.edu 37 9 113449505 113449505 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr9:113449505G>A uc022blv.1 + 2 449 c.315G>A c.(313-315)gtG>gtA p.V105V MUSK_uc022blt.1_Silent_p.V105V|MUSK_uc004bez.2_Silent_p.V105V|MUSK_uc022blu.1_Silent_p.V105V NM_005592 NP_005583 O15146 MUSK_HUMAN Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA. 105 Ig-like 1. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 ACAATGGTGTGGGAGGAGCTG 0.502000 113 96 0 0 0.000781405 0 0 PRKAG2 51422 broad.mit.edu 37 7 151478268 151478268 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:151478268C>T uc003wkk.3 - 2 1047 c.436G>A c.(436-438)Ggc>Agc p.G146S PRKAG2_uc003wkj.3_Missense_Mutation_p.G102S|PRKAG2_uc010lqe.1_Non-coding_Transcript|PRKAG2_uc003wkm.1_Missense_Mutation_p.G146S NM_016203 NP_077747 Q9UGJ0 AAKG2_HUMAN Homo sapiens protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2), transcript variant a, mRNA. 146 ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process AMP-activated protein kinase complex|cytosol|nucleoplasm ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1) 26 all_neural(206;0.187) all_hematologic(28;0.0605) OV - Ovarian serous cystadenocarcinoma(82;0.00252) UCEC - Uterine corpus endometrioid carcinoma (81;0.185) AACCTGATGCCCCCGGGCGAG 0.592000 83 26 0 0 0.00127121 0 0 MARC1 64757 broad.mit.edu 37 1 220970049 220970049 + Missense_Mutation SNP T C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:220970049T>C uc001hmt.3 + 2 762 c.514T>C c.(514-516)Ttc>Ctc p.F172L MARC1_uc001hms.3_Missense_Mutation_p.F172L NM_022746 NP_073583 Q5VT66 MOSC1_HUMAN Homo sapiens mitochondrial amidoxime reducing component 1 (MARC1), nuclear gene encoding mitochondrial protein, mRNA. 172 molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding GATAACCAGCTTCCTGAAGTC 0.602000 57 9 0 0 0.000442599 0 0 PTPRB 5787 broad.mit.edu 37 12 71002959 71002959 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:71002959C>T uc001swb.4 - 1 245 c.215G>A c.(214-216)cGg>cAg p.R72Q PTPRB_uc010sto.2_Missense_Mutation_p.R72Q|PTPRB_uc010stp.2_Missense_Mutation_p.R72Q|PTPRB_uc001swc.4_Missense_Mutation_p.R290Q|PTPRB_uc001swa.4_Missense_Mutation_p.R290Q|PTPRB_uc001swd.4_Missense_Mutation_p.R289Q|PTPRB_uc009zrr.2_Missense_Mutation_p.R169Q|PTPRB_uc001swe.3_Missense_Mutation_p.R290Q NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 72 Fibronectin type-III 1. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GTTGTCTATCCGAAAGGTAGG 0.463000 39 21 0 0 0.00229938 0 0 SLC2A14 144195 broad.mit.edu 37 12 7972128 7972128 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:7972128C>T uc010sgh.2 - 7 1156 c.1135G>A c.(1135-1137)Gga>Aga p.G379R SLC2A14_uc001qtk.3_Missense_Mutation_p.G364R|SLC2A14_uc001qtl.3_Missense_Mutation_p.G341R|SLC2A14_uc001qtm.3_Missense_Mutation_p.G341R|SLC2A14_uc010sgg.2_Missense_Mutation_p.G255R|SLC2A14_uc001qtn.3_Missense_Mutation_p.G364R|SLC2A14_uc001qto.3_5'UTR NM_153449 NP_703150 Q8TDB8 GTR14_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA. 364 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 38 Kidney(36;0.0883) GCCATCCCTCCAAGGCCTATC 0.418000 52 49 0 0 0.000781405 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42442637 42442637 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr15:42442637C>T uc001zoz.3 - 8 911 c.819G>A c.(817-819)gaG>gaA p.E273E PLA2G4F_uc001zoy.3_5'Flank|PLA2G4F_uc001zpa.3_Silent_p.E24E|PLA2G4F_uc010bcr.3_Silent_p.E24E|PLA2G4F_uc010bcs.3_Silent_p.E60E NM_213600 NP_998765 Q68DD2 PA24F_HUMAN Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA. 273 phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) GGATGCCCCCCTCGCCCAGCT 0.617000 10 16 0 0 0.00188189 0 0 BCAM 4059 broad.mit.edu 37 19 45315444 45315444 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:45315444C>T uc002ozu.3 + 2 273 c.229C>T c.(229-231)Cgc>Tgc p.R77C BCAM_uc002ozt.1_Missense_Mutation_p.R77C NM_005581 NP_005572 P50895 BCAM_HUMAN Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA. 77 Ig-like V-type 1. R -> H (defines the Lu(a) antigen; dbSNP:rs28399653). cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) AGCTCGCCCCCGCCTAGCCTC 0.687000 32 32 0 0 0.00178596 0 0 EVPL 2125 broad.mit.edu 37 17 74005667 74005667 + Missense_Mutation SNP C T T rs147527679 TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr17:74005667C>T uc010wss.1 - 21 3913 c.3685G>A c.(3685-3687)Gag>Aag p.E1229K EVPL_uc002jqi.2_Missense_Mutation_p.E1207K|EVPL_uc010wst.1_Missense_Mutation_p.E677K NM_001988 NP_001979 Q92817 EVPL_HUMAN Homo sapiens envoplakin (EVPL), mRNA. 1207 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 ATCTCCTGCTCTGTCTCCGGA 0.622000 65 17 0 0 0.000566183 0 0 PCOLCE2 26577 broad.mit.edu 37 3 142567189 142567189 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr3:142567189G>A uc003evd.3 - 2 625 c.318C>T c.(316-318)ttC>ttT p.F106F NM_013363 NP_037495 Q9UKZ9 PCOC2_HUMAN Homo sapiens procollagen C-endopeptidase enhancer 2 (PCOLCE2), mRNA. 106 CUB 1. extracellular region collagen binding|heparin binding|peptidase activator activity NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 32 AAGTGCCACAGAAGCGGCCAA 0.527000 12 66 0 0 0.000781405 0 0 IMPA1 3612 broad.mit.edu 37 8 82571616 82571617 + Missense_Mutation DNP AA CC CC TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr8:82571616_82571617AA>CC uc003ych.2 - 8 930_931 c.803_804TT>GG c.(802-804)gtt>gGG p.V268G IMPA1_uc011lfq.1_Missense_Mutation_p.V327G|IMPA1_uc011lfr.1_3'UTR NM_005536 NP_005527 P29218 IMPA1_HUMAN Homo sapiens inositol(myo)-1(or 4)-monophosphatase 1 (IMPA1), transcript variant 1, mRNA. 268 inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction cytoplasm inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1) 18 Lithium(DB01356) GCAAAGGTATAACCTGAATTTC 0.376000 63 38 0 0 6.4e-05 0 0 HIST1H4K 8362 broad.mit.edu 37 6 27799023 27799023 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr6:27799023C>T uc003njr.3 - 0 283 c.283G>A c.(283-285)Ggc>Agc p.G95S NM_003541 NP_778224 P62805 H4_HUMAN Homo sapiens histone cluster 1, H4k (HIST1H4K), mRNA. 95 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1) 7 AGGGTGCGGCCCTGGCGCTTG 0.592000 32 21 0 0 0.00148497 0 0 LRP6 4040 broad.mit.edu 37 12 12315309 12315309 + Silent SNP C A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:12315309C>A uc001rah.4 - 9 2239 c.2097G>T c.(2095-2097)gtG>gtT p.V699V BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Silent_p.V699V NM_002336 NP_002327 O75581 LRP6_HUMAN Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA. 699 Beta-propeller 3. Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) CGAATTCTACCACATGTTCCA 0.443000 571 11 0.00185496 0.00741983 0.00185496 1 0 KRT76 51350 broad.mit.edu 37 12 53170566 53170566 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:53170566C>T uc001sax.3 - 0 564 c.510G>A c.(508-510)gtG>gtA p.V170V NM_015848 NP_056932 Q01546 K22O_HUMAN Homo sapiens keratin 76 (KRT76), mRNA. 170 Head. cytoskeleton organization keratin filament structural molecule activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GGTCGATCTCCACATTGAGGG 0.557000 33 6 0 0 0.000157383 0 0 RGPD4 285190 broad.mit.edu 37 2 108487515 108487515 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:108487515G>A uc010ywk.2 + 19 3137 c.3055G>A c.(3055-3057)Ggt>Agt p.G1019S RGPD4_uc002tdu.3_Missense_Mutation_p.G206S|RGPD4_uc010ywl.2_Non-coding_Transcript NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA. 1019 intracellular transport binding p.G1019S(2) breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 AAACACTTCCGGTGACTTTGA 0.388000 125 125 0 0 0.000781405 0 0 TCP10 6953 broad.mit.edu 37 6 167786842 167786842 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr6:167786842G>A uc003qvv.1 - 7 1008 c.796C>T c.(796-798)Cct>Tct p.P266S TCP10_uc003qvu.3_Intron NM_004610 NP_004601 Q12799 TCP10_HUMAN Homo sapiens t-complex 10 homolog (mouse) (TCP10), mRNA. 293 cytosol NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6) 18 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386) GGGTTTACAGGAAGATTCTGC 0.483000 31 14 0 0 0.000566183 0 0 SRRM2 23524 broad.mit.edu 37 16 2812281 2812281 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr16:2812281C>T uc002crk.3 + 10 2301 c.1752C>T c.(1750-1752)tcC>tcT p.S584S SRRM2_uc002crj.1_Silent_p.S488S|SRRM2_uc002crl.1_Silent_p.S584S|SRRM2_uc010bsu.1_Silent_p.S488S NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA. 584 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding p.S584F(1) breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 GGGGCAGGTCCCGCTCTAGAA 0.627000 13 8 0 0 0.000157383 0 0 HYDIN 54768 broad.mit.edu 37 16 70972659 70972659 + Splice_Site SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr16:70972659C>T uc002ezr.3 - 44 7002 c.6851_splice c.e44-1 p.E2284_splice NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 2285 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TGCTTGCGTTCTGTGAGGGGA 0.522000 26 5 0 0 0.00116845 0 0 ZNF257 113835 broad.mit.edu 37 19 22271596 22271596 + Missense_Mutation SNP G C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:22271596G>C uc010ecx.3 + 3 1213 c.1044G>C c.(1042-1044)gaG>gaC p.E348D ZNF257_uc010ecy.3_Missense_Mutation_p.E316D NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN Homo sapiens zinc finger protein 257 (ZNF257), mRNA. 348 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|lung(4) 6 all_lung(12;0.0961)|Lung NSC(12;0.103) AATGTGAAGAGTGTGGCAAAG 0.408000 11 16 0 0 0.00152264 0 0 MLL2 8085 broad.mit.edu 37 12 49428682 49428682 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:49428682G>A uc001rta.4 - 34 10268 c.10268C>T c.(10267-10269)cCc>cTc p.P3423L NM_003482 NP_003473 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA. 3423 Gln-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 CTTTGCAATGGGATCAATGAT 0.507000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 31 5 0 0 0.00116845 0 0 CECR2 27443 broad.mit.edu 37 22 18022035 18022035 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr22:18022035C>T uc010gqw.1 + 14 2131 c.2131C>T c.(2131-2133)Cct>Tct p.P711S CECR2_uc010gqv.1_Missense_Mutation_p.P572S|CECR2_uc002zml.2_Missense_Mutation_p.P572S NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA. 755 DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) AGGATTCATTCCTCCCCGGCA 0.562000 11 8 0 0 0.000274275 0 0 CHRM3 1131 broad.mit.edu 37 1 240072373 240072374 + Missense_Mutation DNP CC TT TT TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:240072373_240072374CC>TT uc021plc.1 + 0 1622_1623 c.1622_1623CC>TT c.(1621-1623)ccc>cTT p.P541L CHRM3_uc001hyp.3_Missense_Mutation_p.P541L NM_000740 NP_000731 P20309 ACM3_HUMAN Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA. 541 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) ACCGTGAACCCCGTGTGCTATG 0.485000 11 64 0 0 6.4e-05 0 0 UGT2B7 7364 broad.mit.edu 37 4 69962806 69962806 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr4:69962806C>T uc003heg.4 + 0 614 c.568C>T c.(568-570)Cct>Tct p.P190S UGT2B7_uc010ihq.3_Missense_Mutation_p.P190S NM_001074 NP_001065 P16662 UD2B7_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA. 190 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 ATTTATTTTCCCTCCTTCCTA 0.388000 61 36 0 0 0.00283554 0 0 NFATC2IP 84901 broad.mit.edu 37 16 28966005 28966005 + Splice_Site SNP T G G TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr16:28966005T>G uc002dru.3 + 3 593 c.578_splice c.e3+2 p.L193_splice NPIPL1_uc010vct.2_Intron|NFATC2IP_uc002drt.3_Intron NM_032815 NP_116204 Q8NCF5 NF2IP_HUMAN Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein (NFATC2IP), mRNA. 193 cytoplasm|nucleus breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2) 11 AGAGTTTCTGTGAGTGAGGCC 0.547000 13 33 0 0 0.000953801 0 0 PARD3B 117583 broad.mit.edu 37 2 206480438 206480438 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:206480438G>A uc002var.2 + 22 3726 c.3519G>A c.(3517-3519)caG>caA p.Q1173Q PARD3B_uc002vao.2_Silent_p.Q1072Q|PARD3B_uc002vap.2_Silent_p.Q1111Q|PARD3B_uc002vaq.2_Silent_p.Q1104Q NM_205863 NP_689739 Q8TEW8 PAR3L_HUMAN Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA. 1173 cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) CAGCCTATCAGGAAACAGGCA 0.622000 20 16 0 0 0.000422831 0 0 ANKAR 150709 broad.mit.edu 37 2 190602435 190602435 + Silent SNP A T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:190602435A>T uc002uqw.2 + 17 3538 c.3450A>T c.(3448-3450)gcA>gcT p.A1150A ANKAR_uc002uqu.3_Non-coding_Transcript|ANKAR_uc002uqx.2_Non-coding_Transcript|ANKAR_uc002uqy.2_Silent_p.A246A NM_144708 NP_653309 Q7Z5J8 ANKAR_HUMAN Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA. 1150 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) CAGGCTATGCATTAACACTTT 0.308000 18 6 0 0 0.00116845 0 0 DMXL1 1657 broad.mit.edu 37 5 118484982 118484982 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr5:118484982C>T uc010jcl.1 + 17 3641 c.3460C>T c.(3460-3462)Ctg>Ttg p.L1154L DMXL1_uc003ksd.2_Silent_p.L1154L|DMXL1_uc021ycw.1_Silent_p.L981L NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Homo sapiens Dmx-like 1 (DMXL1), mRNA. 1154 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) TTCTCATATCCTGACTGTAGG 0.393000 107 26 0 0 0.000586117 0 0 NELL2 4753 broad.mit.edu 37 12 45105169 45105169 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:45105169G>A uc010skz.1 - 11 1370 c.1245C>T c.(1243-1245)acC>acT p.T415T NELL2_uc001rof.3_Silent_p.T364T|NELL2_uc001rog.2_Silent_p.T365T|NELL2_uc001roh.2_Silent_p.T365T|NELL2_uc009zkd.2_Silent_p.T364T|NELL2_uc010sla.1_Silent_p.T388T|NELL2_uc001roi.1_Silent_p.T365T|NELL2_uc010slb.1_Silent_p.T364T|NELL2_uc001roj.2_Silent_p.T365T NM_001145107 NP_006150 Q99435 NELL2_HUMAN Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA. 365 EGF-like 1. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity p.R414fs*3(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) CAAGTTTCATGGTCTGGTCCT 0.398000 29 22 0 0 0.00229938 0 0 GRIN2B 2904 broad.mit.edu 37 12 13906626 13906626 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:13906626C>T uc001rbt.2 - 2 814 c.635G>A c.(634-636)gGa>gAa p.G212E NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 212 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CTTAGAATCTCCATCGTCCAG 0.473000 43 47 0 0 0.000781405 0 0 KCNT2 343450 broad.mit.edu 37 1 196395036 196395036 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:196395036C>T uc001gtd.1 - 10 1127 c.1067G>A c.(1066-1068)cGa>cAa p.R356Q KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.R356Q|KCNT2_uc001gtf.1_Missense_Mutation_p.R356Q|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.3_Missense_Mutation_p.R356Q|KCNT2_uc009wyv.1_Missense_Mutation_p.R331Q NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA. 356 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 GTAGATAACTCGTTGGGACCA 0.413000 82 22 0 0 0.00229938 0 0 ALOX15B 247 broad.mit.edu 37 17 7943218 7943218 + Splice_Site SNP A T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr17:7943218A>T uc002gju.3 + 3 484 c.368_splice c.e3-2 p.A123_splice ALOX15B_uc002gjv.3_Splice_Site_p.A123_splice|ALOX15B_uc002gjw.3_Splice_Site_p.A123_splice|ALOX15B_uc010vun.2_Splice_Site_p.A123_splice|ALOX15B_uc010cnp.3_Splice_Site NM_001141 NP_001132 O15296 LX15B_HUMAN Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA. 123 PLAT. induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation cytoplasm arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 24 CTTCTCCCACAGCCAAGGTGT 0.617000 30 32 0 0 0.00128727 0 0 GPR115 221393 broad.mit.edu 37 6 47675986 47675986 + Silent SNP A G G TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr6:47675986A>G uc003oyz.1 + 3 291 c.291A>G c.(289-291)gaA>gaG p.E97E GPR115_uc003oza.1_Silent_p.E40E|GPR115_uc003ozb.1_Silent_p.E40E NM_153838 NP_722580 Q8IZF3 GP115_HUMAN Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA. 40 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 AAAGCCCTGAAGGGAAACCCA 0.448000 29 17 0 0 0.00152264 0 0 KRT16P3 644945 broad.mit.edu 37 17 20406445 20406445 + RNA SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr17:20406445C>T uc002gxb.3 - 2 c.794G>A Homo sapiens keratin 16 pseudogene 3 (KRT16P3), non-coding RNA. CTTCCATCTCCATCTCCAGGT 0.642000 9 15 0 0 0.000566183 0 0 TTBK2 146057 broad.mit.edu 37 15 43045198 43045198 + Missense_Mutation SNP T C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr15:43045198T>C uc001zqo.2 - 13 2685 c.2246A>G c.(2245-2247)aAc>aGc p.N749S TTBK2_uc010bcy.2_Missense_Mutation_p.N680S NM_173500 NP_775771 Q6IQ55 TTBK2_HUMAN Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA. 749 cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) TTGAGATTTGTTACTTTCTCT 0.428000 127 56 0 0 0.000781405 0 0 CSRNP2 81566 broad.mit.edu 37 12 51461553 51461553 + Missense_Mutation SNP C A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:51461553C>A uc021qxx.1 - 3 1123 c.611G>T c.(610-612)cGa>cTa p.R204L CSRNP2_uc001rxu.2_Missense_Mutation_p.R204L NM_030809 NP_110436 Q9H175 CSRN2_HUMAN Homo sapiens cysteine-serine-rich nuclear protein 2 (CSRNP2), transcript variant 1, mRNA. 204 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 14 GCGGATGGCTCGAAGTTCTTG 0.572000 54 21 3.62473e-10 1.46993e-09 0.00188189 1 0 C8B 732 broad.mit.edu 37 1 57417792 57417792 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:57417792C>T uc001cyp.3 - 4 662 c.595G>A c.(595-597)Gga>Aga p.G199R C8B_uc010oon.2_Missense_Mutation_p.G137R|C8B_uc010ooo.2_Missense_Mutation_p.G147R NM_000066 NP_000057 P07358 CO8B_HUMAN Homo sapiens complement component 8, beta polypeptide (C8B), mRNA. 199 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 GGGGAGCATCCACCTGCATAA 0.483000 49 68 0 0 0.000781405 0 0 U2AF2 11338 broad.mit.edu 37 19 56171916 56171916 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:56171916C>T uc002qlu.3 + 3 1320 c.265C>T c.(265-267)Cgt>Tgt p.R89C U2AF2_uc002qlt.3_Missense_Mutation_p.R89C NM_007279 NP_009210 P26368 U2AF2_HUMAN Homo sapiens U2 small nuclear RNA auxiliary factor 2 (U2AF2), transcript variant 1, mRNA. 89 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex RNA binding|enzyme binding|nucleotide binding biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2) 21 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) GAAGAAGGTCCGTAAATACTG 0.637000 18 13 0 0 0.000308642 0 0 MYLK 4638 broad.mit.edu 37 3 123368037 123368037 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr3:123368037C>T uc003ego.3 - 24 4575 c.4293G>A c.(4291-4293)ccG>ccA p.P1431P MYLK_uc010hrr.3_5'UTR|MYLK_uc011bjv.2_Silent_p.P231P|MYLK_uc011bjw.2_Silent_p.P1431P|MYLK_uc003egp.3_Silent_p.P1362P|MYLK_uc003egq.3_Silent_p.P1431P|MYLK_uc003egr.3_Silent_p.P1362P|MYLK_uc003egs.3_Silent_p.P1255P NM_053025 NP_444253 Q15746 MYLK_HUMAN Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA. 1431 Actin-binding (calcium/calmodulin- insensitive) (By similarity). aorta smooth muscle tissue morphogenesis|muscle contraction cytosol ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CTTCATCCTTCGGCTCTGGGG 0.612000 9 38 0 0 0.00170553 0 0 C9orf139 401563 broad.mit.edu 37 9 139929162 139929162 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr9:139929162C>T uc004ckp.1 + 2 1743 c.229C>T c.(229-231)Cct>Tct p.P77S FUT7_uc004ckq.2_5'Flank NM_207511 NP_997394 Q6ZV77 CI139_HUMAN Homo sapiens chromosome 9 open reading frame 139 (C9orf139), mRNA. 77 cervix(1)|lung(2) 3 all_cancers(76;0.0893) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493) GGTGACCCGGCCTCTGGTGCC 0.657000 49 12 0 0 0.000978159 0 0 FGD6 55785 broad.mit.edu 37 12 95486565 95486565 + Nonsense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:95486565C>T uc001tdp.4 - 15 3881 c.3657G>A c.(3655-3657)tgG>tgA p.W1219* FGD6_uc009zsx.3_Nonsense_Mutation_p.W352*|FGD6_uc001tdq.1_Nonsense_Mutation_p.W255* NM_018351 NP_060821 Q6ZV73 FGD6_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA. 1219 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape Golgi apparatus|cytoskeleton|lamellipodium|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 TATCAGGAATCCAGATGGGAG 0.493000 31 12 0 0 0.00185496 0 0 ATP2C2 9914 broad.mit.edu 37 16 84488460 84488460 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr16:84488460G>A uc010chj.3 + 20 2106 c.2017G>A c.(2017-2019)Ggg>Agg p.G673R ATP2C2_uc002fhx.3_Missense_Mutation_p.G673R|ATP2C2_uc002fhy.3_Missense_Mutation_p.G690R|ATP2C2_uc002fhz.3_Missense_Mutation_p.G522R NM_014861 NP_055676 O75185 AT2C2_HUMAN Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA. 673 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 GGCCATGACTGGGGATGGGGT 0.622000 20 28 0 0 0.00058488 0 0 OBSCN 84033 broad.mit.edu 37 1 228401965 228401966 + Missense_Mutation DNP CC TT TT TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:228401965_228401966CC>TT uc009xez.1 + 3 1393_1394 c.1349_1350CC>TT c.(1348-1350)ccc>cTT p.P450L OBSCN_uc001hsn.3_Missense_Mutation_p.P450L|AK056556_uc001hsm.1_5'Flank NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 450 Ig-like 5. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CCGGTGGGCCCCGTCCACTGGC 0.693000 50 68 0 0 6.4e-05 0 0 TTN 7273 broad.mit.edu 37 2 179466211 179466211 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:179466211C>T uc021vsy.1 - 235 48034 c.47809G>A c.(47809-47811)Gac>Aac p.D15937N MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D9632N|TTN_uc021vta.1_Missense_Mutation_p.D9565N|TTN_uc021vtb.1_Missense_Mutation_p.D9440N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 16864 Fibronectin type-III 16. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.D15937N(1)|p.D9440N(1)|p.D9632N(1)|p.D9565N(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCTCCATCGTCGTCTGGCATC 0.453000 94 26 0 0 0.00106085 0 0 PLA2G5 5322 broad.mit.edu 37 1 20412659 20412659 + Missense_Mutation SNP G C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:20412659G>C uc001bcx.3 + 7 1080 c.217G>C c.(217-219)Ggc>Cgc p.G73R PLA2G5_uc001bcy.3_Missense_Mutation_p.G42R NM_000929 NP_000920 P39877 PA2G5_HUMAN Homo sapiens phospholipase A2, group V (PLA2G5), mRNA. 42 lipid catabolic process extracellular region calcium ion binding|calcium-dependent phospholipase A2 activity p.G42S(1) NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652) GACAAACTACGGCTTCTACGG 0.567000 30 37 0 0 0.00195071 0 0 KRT18P55 284085 broad.mit.edu 37 17 26604334 26604334 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr17:26604334G>A uc002has.3 - 2 628 c.141C>T c.(139-141)ctC>ctT p.L47L Homo sapiens keratin 18 pseudogene 55 (KRT18P55), non-coding RNA. GTAGTTGGTGGAGAGGGTGGA 0.557000 22 27 0 0 0.000878237 0 0 PSG5 5673 broad.mit.edu 37 19 43680131 43680131 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:43680131C>T uc002ovu.3 - 2 731 c.600G>A c.(598-600)agG>agA p.R200R PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Silent_p.R200R NM_002781 NP_002772 Q15238 PSG5_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA. 200 Ig-like C2-type 1. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) GAATGAGGATCCTGTTTTCAA 0.507000 119 36 0 0 0.000781405 0 0 RREB1 6239 broad.mit.edu 37 6 7230953 7230953 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr6:7230953C>T uc003mxb.3 + 9 3113 c.2621C>T c.(2620-2622)cCc>cTc p.P874L RREB1_uc021yky.1_Missense_Mutation_p.P874L|RREB1_uc003mxc.3_Missense_Mutation_p.P874L|RREB1_uc010jnx.3_Missense_Mutation_p.P874L|RREB1_uc021ykz.1_Missense_Mutation_p.P874L|RREB1_uc021yla.1_Intron NM_001003699 NP_001003699 Q92766 RREB1_HUMAN Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA. 874 Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CACAGGGGCCCCACCCAGCCT 0.647000 20 29 0 0 0.00178596 0 0 SLC9A2 6549 broad.mit.edu 37 2 103274328 103274328 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:103274328C>T uc002tca.3 + 1 737 c.595C>T c.(595-597)Ctc>Ttc p.L199F NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA. 199 integral to membrane|plasma membrane sodium:hydrogen antiporter activity p.G198C(1) breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 AGCATTCGGCCTCAGCGACAT 0.488000 112 37 0 0 0.00170553 0 0 LNX1 84708 broad.mit.edu 37 4 54374252 54374252 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr4:54374252C>T uc003hag.4 - 2 779 c.523G>A c.(523-525)Gac>Aac p.D175N PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Missense_Mutation_p.D79N|LNX1_uc003hah.4_Intron NM_001126328 NP_001119800 Q8TBB1 LNX1_HUMAN Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA. 175 cytoplasm zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4) 32 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) CCAGGCTCGTCTGTCATTAAG 0.632000 26 13 0 0 0.00244969 0 0 SLC8A1 6546 broad.mit.edu 37 2 40656001 40656001 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr2:40656001C>T uc002rrx.3 - 0 1444 c.1420G>A c.(1420-1422)Gaa>Aaa p.E474K SLC8A1_uc002rry.3_Missense_Mutation_p.E474K|SLC8A1_uc002rsb.2_Missense_Mutation_p.E474K|SLC8A1_uc002rrz.3_Missense_Mutation_p.E474K|SLC8A1_uc002rsa.3_Missense_Mutation_p.E474K|SLC8A1_uc002rsd.4_Missense_Mutation_p.E474K|SLC8A1_uc010fan.1_Missense_Mutation_p.E474K|SLC8A1_uc002rsc.1_Missense_Mutation_p.E474K NM_021097 NP_066920 P32418 NAC1_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA. 474 Calx-beta 1. cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) ACTCTGATTTCCTTCTGGGTA 0.408000 32 9 0 0 0.000274275 0 0 TULP1 7287 broad.mit.edu 37 6 35480623 35480623 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr6:35480623C>T uc003okv.4 - 0 25 c.13G>A c.(13-15)Gat>Aat p.D5N TULP1_uc003okw.4_Missense_Mutation_p.D5N|TULP1_uc021yyx.1_Missense_Mutation_p.D5N|TULP1_uc021yyy.1_Missense_Mutation_p.D5N NM_003322 NP_003313 O00294 TULP1_HUMAN Homo sapiens tubby like protein 1 (TULP1), mRNA. 5 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 AGGGTTTCATCCCGCAGAGGC 0.627000 45 25 0 0 0.00106085 0 0 POU2F2 5452 broad.mit.edu 37 19 42621408 42621408 + Silent SNP T A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:42621408T>A uc002osp.3 - 4 359 c.297A>T c.(295-297)ctA>ctT p.L99L POU2F2_uc002osn.3_Silent_p.L99L|POU2F2_uc002osq.3_Silent_p.L99L|POU2F2_uc002osr.2_Silent_p.L99L NM_001207025 NP_001193954 P09086 PO2F2_HUMAN Homo sapiens POU class 2 homeobox 2 (POU2F2), transcript variant 1, mRNA. 99 humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(69;0.059) TTACCCCAGCTAGCTGGCTGC 0.622000 71 15 0 0 0.000566183 0 0 UPK2 7379 broad.mit.edu 37 11 118828856 118828857 + Missense_Mutation DNP GG AA AA TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr11:118828856_118828857GG>AA uc001puh.3 + 4 521_522 c.468_469GG>AA c.(466-471)atggtg>atAAtg p.156_157MV>IM NM_006760 NP_006751 O00526 UPK2_HUMAN Homo sapiens uroplakin 2 (UPK2), mRNA. 156 cellular membrane organization|epithelial cell differentiation|multicellular organismal development integral to endoplasmic reticulum membrane|integral to plasma membrane kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 5 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;7.47e-05) CAGGGGGCATGGTGGTCATCAC 0.624000 13 25 0 0 6.4e-05 0 0 KCNN4 3783 broad.mit.edu 37 19 44273133 44273133 + Silent SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:44273133G>A uc002oxl.3 - 6 1497 c.1101C>T c.(1099-1101)tcC>tcT p.S367S NM_002250 NP_002241 O15554 KCNN4_HUMAN Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 (KCNN4), mRNA. 367 defense response voltage-gated potassium channel complex calcium-activated potassium channel activity|calmodulin binding biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0352) Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468) TGTCCACCATGGAGTTCACTT 0.572000 51 52 0 0 0.000781405 0 0 MMP17 4326 broad.mit.edu 37 12 132325220 132325221 + Missense_Mutation DNP CC TT TT TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:132325220_132325221CC>TT uc001ujc.1 + 3 624_625 c.525_526CC>TT c.(523-528)ttccac>ttTTac p.H176Y MMP17_uc001ujd.1_Missense_Mutation_p.H92Y NM_016155 NP_057239 Q9ULZ9 MMP17_HUMAN Homo sapiens matrix metallopeptidase 17 (membrane-inserted) (MMP17), mRNA. 176 proteolysis anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding endometrium(1)|large_intestine(3)|lung(1) 5 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05) CCCTGAACTTCCACGAGGTGGC 0.663000 57 17 0 0 6.4e-05 0 0 HEATR8 374977 broad.mit.edu 37 1 55167774 55167774 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:55167774C>T uc010ooe.1 + 19 3621 c.3297C>T c.(3295-3297)gtC>gtT p.V1099V HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ood.1_Silent_p.V617V|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Silent_p.V301V NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA. 1099 V -> D (in Ref. 2; CAH18687, 1; BAC87334 and 4; AAH29191). integral to membrane binding breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 CACGAGAGGTCGTGCGCTCCT 0.612000 19 5 0 0 0.00198382 0 0 NDRG3 57446 broad.mit.edu 37 20 35282027 35282027 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr20:35282027G>A uc002xfw.3 - 15 1166 c.1024C>T c.(1024-1026)Ccc>Tcc p.P342S NDRG3_uc002xfx.3_Missense_Mutation_p.P330S|NDRG3_uc010zvq.2_Missense_Mutation_p.P247S|NDRG3_uc010zvr.2_Missense_Mutation_p.P230S NM_032013 NP_114402 Q9UGV2 NDRG3_HUMAN Homo sapiens NDRG family member 3 (NDRG3), transcript variant 1, mRNA. 342 cell differentiation|negative regulation of cell growth|spermatogenesis cytoplasm endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Myeloproliferative disorder(115;0.00878) CGGCTGAAGGGACTTTCTCCA 0.562000 55 12 0 0 0.000308642 0 0 ANO2 57101 broad.mit.edu 37 12 5941659 5941659 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:5941659C>T uc001qnm.2 - 4 804 c.732G>A c.(730-732)atG>atA p.M244I ANO2_uc021qtt.1_Missense_Mutation_p.M248I NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN Homo sapiens anoctamin 2 (ANO2), mRNA. 249 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 AGAGGTTTTTCATCTTGTTGT 0.502000 35 39 0 0 0.0025221 0 0 SOX8 30812 broad.mit.edu 37 16 1033854 1033854 + Missense_Mutation SNP C A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr16:1033854C>A uc002ckn.3 + 1 664 c.549C>A c.(547-549)caC>caA p.H183Q LMF1_uc002ckk.2_5'Flank|LMF1_uc002ckm.1_5'Flank NM_014587 NP_055402 P57073 SOX8_HUMAN Homo sapiens SRY (sex determining region Y)-box 8 (SOX8), mRNA. 183 Sertoli cell development|adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|signal transduction|spermatogenesis|ureter morphogenesis cytoplasm|nucleus central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1) 10 Hepatocellular(780;0.00308) AAGCCGGCCACAGCGACTCCG 0.677000 6 14 4.36969e-10 1.76981e-09 0.00185496 1 0 RASSF2 9770 broad.mit.edu 37 20 4768401 4768401 + Splice_Site SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr20:4768401C>T uc002wld.3 - 9 746 c.692_splice c.e9-1 p.E231_splice RASSF2_uc002wlc.3_Intron|RASSF2_uc002wlf.3_Splice_Site_p.E231_splice NM_170774 NP_739580 P50749 RASF2_HUMAN Homo sapiens Ras association (RalGDS/AF-6) domain family member 2 (RASSF2), transcript variant 2, mRNA. 231 Ras-associating. cell cycle|signal transduction nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2) 34 TTCTGTTTCTCTGCAACCACA 0.532000 21 18 0 0 0.00121646 0 0 SOX30 11063 broad.mit.edu 37 5 157078445 157078445 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr5:157078445C>T uc003lxb.1 - 0 984 c.642G>A c.(640-642)acG>acA p.T214T SOX30_uc003lxc.1_Silent_p.T214T|SOX30_uc011dds.1_Intron NM_178424 NP_848511 O94993 SOX30_HUMAN Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA. 214 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 23 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CGGGTTCCTCCGTTTTGATCA 0.637000 37 85 0 0 0.000781405 0 0 IQUB 154865 broad.mit.edu 37 7 123092855 123092855 + Nonsense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:123092855C>T uc003vkn.3 - 12 2895 c.2318G>A c.(2317-2319)tGg>tAg p.W773* IQUB_uc011kny.2_Nonsense_Mutation_p.W106*|IQUB_uc003vko.3_Nonsense_Mutation_p.W773*|IQUB_uc010lkt.3_Non-coding_Transcript NM_178827 NP_849149 Q8NA54 IQUB_HUMAN Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA. 773 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 GTGATACTTCCATCTGATCTC 0.393000 30 37 0 0 0.00148497 0 0 KCNA1 3736 broad.mit.edu 37 12 5021551 5021551 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:5021551G>A uc001qnh.3 + 1 2112 c.1007G>A c.(1006-1008)gGg>gAg p.G336E KCNA1_uc021qts.1_Missense_Mutation_p.G336E NM_000217 NP_000208 Q09470 KCNA1_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA. 336 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity p.G336V(2)|p.I335I(1) NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CTCTTCATCGGGGTCATCCTG 0.552000 56 23 0 0 0.00188189 0 0 GHR 2690 broad.mit.edu 37 5 42718182 42718182 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr5:42718182C>T uc021xxv.1 + 8 1062 c.925C>T c.(925-927)Cca>Tca p.P309S GHR_uc003jmt.3_Missense_Mutation_p.P302S|GHR_uc003jmu.3_Missense_Mutation_p.P302S|GHR_uc003jmv.2_Missense_Mutation_p.P302S|GHR_uc021xxw.1_Missense_Mutation_p.P302S|GHR_uc021xxx.1_Missense_Mutation_p.P302S|GHR_uc021xxy.1_Missense_Mutation_p.P302S|GHR_uc021xxz.1_Missense_Mutation_p.P302S|GHR_uc021xya.1_Missense_Mutation_p.P302S|GHR_uc021xyb.1_Missense_Mutation_p.S293F|GHR_uc021xyc.1_Intron|GHR_uc011cpq.2_Missense_Mutation_p.P115S|GHR_uc021xyd.1_Missense_Mutation_p.P280S NM_001242399 NP_001229328 P10912 GHR_HUMAN Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA. 302 2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GCCCCCAGTTCCAGTTCCAAA 0.318000 52 13 0 0 0.000566183 0 0 OBSCN 84033 broad.mit.edu 37 1 228475527 228475527 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:228475527C>T uc009xez.1 + 35 9721 c.9677C>T c.(9676-9678)cCa>cTa p.P3226L OBSCN_uc001hsn.3_Missense_Mutation_p.P3226L|OBSCN_uc001hsq.1_Missense_Mutation_p.P482L NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 3226 Ig-like 32. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GTCCTGAGGCCAGGTGACAAA 0.637000 51 31 0 0 0.000814825 0 0 MUC16 94025 broad.mit.edu 37 19 8994416 8994416 + Splice_Site SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:8994416C>T uc002mkp.3 - 64 41679 c.41475_splice c.e64+1 p.L13825_splice MUC16_uc010dwi.3_Splice_Site|MUC16_uc010dwj.3_Splice_Site_p.L642_splice|MUC16_uc021uog.1_Splice_Site NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 13828 SEA 12. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGGGCTCTCACCAGGCCCTGA 0.562000 135 34 0 0 0.00111076 0 0 abParts 0 broad.mit.edu 37 22 23029786 23029786 + Splice_Site SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr22:23029786C>T uc021wml.1 + 181 c.9731_splice c.e181-2 abParts_uc021wmm.1_Intron Parts of antibodies, mostly variable regions. ACATAAACCCCTCCCCCTCTA 0.522000 45 4 0 0 0.000157383 0 0 KL 9365 broad.mit.edu 37 13 33635153 33635153 + Missense_Mutation SNP G A A TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr13:33635153G>A uc001uus.3 + 3 1945 c.1937G>A c.(1936-1938)gGa>gAa p.G646E KL_uc001uur.1_3'UTR NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN Homo sapiens klotho (KL), mRNA. 646 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) CCGAACCAAGGACTGCCGCGC 0.632000 54 32 0 0 0.00283554 0 0 EPHA7 2045 broad.mit.edu 37 6 94066482 94066482 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr6:94066482C>T uc003poe.3 - 4 1518 c.1277G>A c.(1276-1278)cGa>cAa p.R426Q EPHA7_uc003pof.3_Missense_Mutation_p.R426Q|EPHA7_uc011eac.2_Missense_Mutation_p.R426Q NM_004440 NP_004431 Q15375 EPHA7_HUMAN Homo sapiens EPH receptor A7 (EPHA7), mRNA. 426 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity p.R426*(1)|p.R426R(1) NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) CCTCTGGGATCGGCTTAAGTC 0.418000 10 28 0 0 0.00209593 0 0 DPY19L2P3 442524 broad.mit.edu 37 7 29771574 29771574 + RNA SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:29771574C>T uc003tai.3 + 8 c.650C>T Homo sapiens dpy-19-like 2 pseudogene 3 (C. elegans) (DPY19L2P3), transcript variant 1, non-coding RNA. ATGCTGTCTTCGCAGTGCCAT 0.398000 50 27 0 0 0.00106085 0 0 KIF22 3835 broad.mit.edu 37 16 29810978 29810978 + Silent SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr16:29810978C>T uc002dts.3 + 6 1043 c.1020C>T c.(1018-1020)atC>atT p.I340I BOLA2_uc010bzb.1_Intron|KIF22_uc010vdv.1_Silent_p.I272I|KIF22_uc010vdw.1_Silent_p.I272I NM_007317 NP_015556 Q14807 KIF22_HUMAN Homo sapiens kinesin family member 22 (KIF22), transcript variant 1, mRNA. 340 DNA repair|blood coagulation|microtubule-based movement|mitosis cytosol|kinetochore|microtubule|nucleus ATP binding|DNA binding|microtubule motor activity|protein binding endometrium(1)|large_intestine(1)|lung(11)|skin(1) 14 CCCACAGTATCCTTATTGCCA 0.557000 9 19 0 0 0.00152264 0 0 ADAD2 161931 broad.mit.edu 37 16 84228155 84228155 + Missense_Mutation SNP C T T TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr16:84228155C>T uc002fhq.2 + 2 856 c.742C>T c.(742-744)Ctc>Ttc p.L248F ADAD2_uc002fhr.2_Missense_Mutation_p.L176F|AK123582_uc002fhs.1_Missense_Mutation_p.G70R NM_139174 NP_631913 Q8NCV1 ADAD2_HUMAN Homo sapiens adenosine deaminase domain containing 2 (ADAD2), transcript variant 1, mRNA. 176 RNA processing intracellular adenosine deaminase activity|double-stranded RNA binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1) 13 GCTCTCTGCCCTCTGCTACAT 0.647000 12 5 0 0 0.000602214 0 0 GJC1 10052 broad.mit.edu 37 17 42882944 42882944 + Missense_Mutation SNP A C C TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr17:42882944A>C uc002ihj.3 - 1 753 c.242T>G c.(241-243)aTc>aGc p.I81S GJC1_uc002ihk.3_Missense_Mutation_p.I81S|GJC1_uc002ihl.3_Missense_Mutation_p.I81S|GJC1_uc021tyf.1_Missense_Mutation_p.I81S NM_005497 NP_005488 P36383 CXG1_HUMAN Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA. 81 cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport connexon complex|integral to membrane NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1) 19 Prostate(33;0.0959) CACCAGGATGATCTGGAACAC 0.512000 73 25 0 0 0.00278032 0 0 MEGF6 1953 broad.mit.edu 37 1 3425693 3425693 + Frame_Shift_Del DEL C - - TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:3425693delC uc001akl.3 - 11 1701 c.1474delG c.(1474-1476)gccfs p.A492fs MEGF6_uc001akk.3_Frame_Shift_Del_p.A387fs NM_001409 NP_001400 O75095 MEGF6_HUMAN Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA. 492 extracellular region calcium ion binding cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) TCCTCATCGGCCCCGACGTCG 0.687 --- 4 --- --- 2 --- KCNA10 3744 broad.mit.edu 37 1 111061179 111061180 + Frame_Shift_Del DEL CT - - TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr1:111061179_111061180delCT uc001dzt.1 - 0 618_619 c.230_231delAG c.(229-231)gagfs p.E77fs NM_005549 NP_005540 Q16322 KCA10_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA. 77 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1) 35 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) GGACCACTGGCTCAGGCCCTGG 0.550 --- 64 --- --- 25 --- MBD4 8930 broad.mit.edu 37 3 129155548 129155548 + Frame_Shift_Del DEL T - - TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr3:129155548delT uc003emh.1 - 2 1115 c.939delA c.(937-939)aaafs p.K313fs MBD4_uc003emi.1_Frame_Shift_Del_p.K313fs|MBD4_uc003emj.1_Frame_Shift_Del_p.K313fs|MBD4_uc003emk.1_Intron|MBD4_uc011bkw.1_Frame_Shift_Del_p.K313fs NM_003925 NP_003916 O95243 MBD4_HUMAN Homo sapiens methyl-CpG binding domain protein 4 (MBD4), mRNA. 313 depyrimidination nucleoplasm DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1) 22 ATGATCTTTCTTTTTTTTTTA 0.373 Base excision repair (BER), DNA glycosylases --- 121 --- --- 10 --- HLA-J 3137 broad.mit.edu 37 6 29977389 29977393 + Frame_Shift_Del DEL CTTCT - - TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr6:29977389_29977393delCTTCT uc021yty.1 + 4 435_439 c.417_421delCTTCT c.(415-423)gacttctctfs p.D139fs HLA-G_uc011dmb.2_3'UTR|ZNRD1-AS1_uc011dme.2_Intron|HLA-J_uc003nou.4_Non-coding_Transcript|HLA-J_uc003nov.4_Non-coding_Transcript|HLA-J_uc003rtl.4_Frame_Shift_Del_p.D136fs Homo sapiens major histocompatibility complex, class I, J (pseudogene) (HLA-J), non-coding RNA. AGAACCCTGACTTCTCTTTCTGCAA 0.488 --- 41 --- --- 11 --- PILRB 29990 broad.mit.edu 37 7 99943553 99943553 + RNA DEL T - - TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr7:99943553delT uc022ail.1 + 3 c.346delT Q9UKJ0 PILRB_HUMAN Homo sapiens paired immunoglobin-like type 2 receptor beta (PILRB), transcript variant 2, non-coding RNA. activation of transmembrane receptor protein tyrosine kinase activity integral to plasma membrane protein binding|receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGTGAAGGGATTTTTTTTTTT 0.413 --- 4 --- --- 2 --- MYBPC3 4607 broad.mit.edu 37 11 47357487 47357487 + Frame_Shift_Del DEL G - - TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr11:47357487delG uc021qis.1 - 25 2733 c.2678delC c.(2677-2679)ccafs p.P893fs MYBPC3_uc021qir.1_Frame_Shift_Del_p.P545fs|MYBPC3_uc010rhl.2_Non-coding_Transcript NM_000256 NP_000247 Q14896 MYPC3_HUMAN Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA. 892 Fibronectin type-III 2. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) CACGCGCTCTGGGGGCCGCCA 0.667 --- 4 --- --- 2 --- CHD4 1108 broad.mit.edu 37 12 6711546 6711546 + Frame_Shift_Del DEL T - - TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:6711546delT uc001qpo.3 - 2 382 c.218delA c.(217-219)aagfs p.K73fs CHD4_uc001qpn.3_Frame_Shift_Del_p.K73fs|CHD4_uc001qpp.3_Frame_Shift_Del_p.K70fs NM_001273 NP_001264 Q14839 CHD4_HUMAN Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA. 73 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NuRD complex|microtubule organizing center ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 ACTCACCTCCTTTTTTTGGCG 0.468 --- 334 --- --- 9 --- MLL2 8085 broad.mit.edu 37 12 49442494 49442494 + Frame_Shift_Del DEL A - - TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr12:49442494delA uc001rta.4 - 12 4079 c.4079delT c.(4078-4080)atgfs p.M1360fs NM_003482 NP_003473 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA. 1360 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 GGTATTCTGCATGGTGTCATC 0.458 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) --- 209 --- --- 43 --- TGIF1 7050 broad.mit.edu 37 18 3452223 3452223 + Frame_Shift_Del DEL T - - rs11571510 TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr18:3452223delT uc002klz.3 + 0 633 c.246delT c.(244-246)cctfs p.P82fs TGIF1_uc002klu.3_Intron|TGIF1_uc002klv.3_Intron|TGIF1_uc002klx.3_Intron|TGIF1_uc002klw.3_Intron|TGIF1_uc010dkm.1_Intron|TGIF1_uc002kly.3_Intron|TGIF1_uc002kma.3_Intron|TGIF1_uc002kmb.3_5'Flank NM_170695 NP_777480 Q15583 TGIF1_HUMAN Homo sapiens TGFB-induced factor homeobox 1 (TGIF1), transcript variant 1, mRNA. 82 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity p.P83fs*51(1) cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 Esophageal squamous(4;0.0859) Colorectal(8;0.0104) GCGCCCCCCCTCCTCCACCGG 0.766 --- 4 --- --- 9 --- IRGQ 126298 broad.mit.edu 37 19 44096700 44096703 + Frame_Shift_Del DEL GAGC - - TCGA-EB-A24D-01A-11D-A197-08 TCGA-EB-A24D-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c884037-49f9-41c3-b0e5-9cbcd545aeb7 9147bffe-0ece-4015-be88-2d7d440060c0 g.chr19:44096700_44096703delGAGC uc002oww.2 - 1 1465_1468 c.1347_1350delGCTC c.(1345-1350)gcgctcfs p.A449fs IRGQ_uc010eiv.2_Frame_Shift_Del_p.A449fs NM_001007561 NP_001007562 Q8WZA9 IRGQ_HUMAN Homo sapiens immunity-related GTPase family, Q (IRGQ), mRNA. 449 Ala-rich. protein binding endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3) 18 Prostate(69;0.0199) GGGCTGGGGGGAGCGCTCGCCGCA 0.730 --- 32 --- --- 10 ---