Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut DIAPH2 1730 broad.mit.edu 37 X 96369882 96369882 + Nonsense_Mutation SNP T T G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chrX:96369882T>G ENST00000324765.8 + 21 2854 c.2507T>G c.(2506-2508)tTa>tGa p.L836* DIAPH2_ENST00000355827.4_Nonsense_Mutation_p.L836*|DIAPH2_ENST00000373061.3_Nonsense_Mutation_p.L836*|DIAPH2_ENST00000373054.4_Nonsense_Mutation_p.L832*|DIAPH2_ENST00000373049.4_Nonsense_Mutation_p.L836* O60879 DIAP2_HUMAN diaphanous-related formin 2 836 FH2. cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 CTTTTAGAGTTAGTTCTTCTT 0.353000 4 64 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169513703 169513703 + Silent SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:169513703G>A ENST00000367796.3 - 12 2022 c.1821C>T c.(1819-1821)ttC>ttT p.F607F F5_ENST00000367797.3_Silent_p.F602F P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 602 F5/8 type A 2.|Plastocyanin-like 4. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) CATCAAAGCAGAATCCAAGAG 0.428000 5 124 0 0 1 0 0 C20orf27 54976 broad.mit.edu 37 20 3735153 3735153 + Missense_Mutation SNP C C A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr20:3735153C>A ENST00000379772.3 - 5 1125 c.315G>T c.(313-315)aaG>aaT p.K105N C20orf27_ENST00000217195.8_Missense_Mutation_p.K130N NM_001258429.1 NP_001245358.1 Q9GZN8 CT027_HUMAN chromosome 20 open reading frame 27 105 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1) 7 AGTACTCACACTTGACACTAT 0.642000 8 55 0.000274275 0.000289061 1 1 0 KIDINS220 57498 broad.mit.edu 37 2 8891728 8891728 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr2:8891728C>T ENST00000256707.3 - 23 3239 c.3058G>A c.(3058-3060)Gaa>Aaa p.E1020K KIDINS220_ENST00000427284.1_Missense_Mutation_p.E1020K|KIDINS220_ENST00000418530.1_Missense_Mutation_p.E978K|KIDINS220_ENST00000473731.1_Missense_Mutation_p.E1020K NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 1020 activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane p.E1020K(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CCATCAATTTCAAGAAGTGGC 0.323000 9 63 0 0 1 0 0 GNAQ 2776 broad.mit.edu 37 9 80343552 80343552 + Missense_Mutation SNP C C G rs2013373 TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr9:80343552C>G ENST00000286548.4 - 6 989 c.767G>C c.(766-768)aGa>aCa p.R256T GNAQ_ENST00000397476.3_Missense_Mutation_p.R54T NM_002072.3 NP_002063.2 P50148 GNAQ_HUMAN guanine nucleotide binding protein (G protein), q polypeptide 256 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1) 302 GATAATTGTTCTAAAGAGAGC 0.348000 Mis uveal melanoma 15 125 0 0 1 0 0 SPP2 6694 broad.mit.edu 37 2 234959456 234959456 + Missense_Mutation SNP C C T rs145529777 TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr2:234959456C>T ENST00000168148.3 + 1 114 c.26C>T c.(25-27)aCg>aTg p.T9M SPP2_ENST00000373368.1_Missense_Mutation_p.T9M NM_006944.2 NP_008875.1 Q13103 SPP24_HUMAN secreted phosphoprotein 2, 24kDa 9 bone remodeling|skeletal system development extracellular region endopeptidase inhibitor activity breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 12 Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182) Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846) GAGAAGATGACGATGATGATG 0.433000 6 75 0 0 1 0 0 TNFAIP6 7130 broad.mit.edu 37 2 152222693 152222693 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr2:152222693G>A ENST00000243347.3 + 3 431 c.356G>A c.(355-357)aGg>aAg p.R119K NM_007115.3 NP_009046.2 P98066 TSG6_HUMAN tumor necrosis factor, alpha-induced protein 6 119 Link. cell adhesion|cell-cell signaling|inflammatory response|signal transduction hyaluronic acid binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.131) CGTCTCAATAGGAGTGAAAGA 0.418000 5 61 0 0 1 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175057 140175057 + Missense_Mutation SNP T T C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr5:140175057T>C ENST00000526136.1 + 1 508 c.508T>C c.(508-510)Tac>Cac p.Y170H PCDHA2_ENST00000520672.2_Missense_Mutation_p.Y170H|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.Y170H|PCDHA1_ENST00000504120.2_Intron NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTTCTCTCCTACAAGCTCAG 0.453000 9 79 0 0 1 0 0 IL7R 3575 broad.mit.edu 37 5 35876212 35876212 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr5:35876212C>T ENST00000303115.3 + 8 1133 c.1004C>T c.(1003-1005)tCt>tTt p.S335F IL7R_ENST00000343305.4_3'UTR NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 335 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) CTAGAAGAATCTGAGAAGCAG 0.478000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 4 43 0 0 1 0 0 NBEAL2 23218 broad.mit.edu 37 3 47049918 47049918 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr3:47049918G>A ENST00000450053.3 + 51 8044 c.7865G>A c.(7864-7866)cGt>cAt p.R2622H NBEAL2_ENST00000383740.2_Missense_Mutation_p.R871H|NBEAL2_ENST00000292309.5_Missense_Mutation_p.R2438H NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 2622 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) GCGTGGGAACGTCCTGGGGCC 0.612000 7 37 0 0 1 0 0 DEPTOR 64798 broad.mit.edu 37 8 121013828 121013828 + Silent SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr8:121013828G>A ENST00000286234.5 + 5 799 c.669G>A c.(667-669)cgG>cgA p.R223R DEPTOR_ENST00000518057.1_3'UTR|DEPTOR_ENST00000523492.1_Silent_p.R122R NM_022783.2 NP_073620.2 Q8TB45 DPTOR_HUMAN DEP domain containing MTOR-interacting protein 223 Poly-Arg. intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis intracellular protein binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 18 ACTTCCGGCGGAGGCGAAGAC 0.493000 9 54 0 0 1 0 0 ADRB1 153 broad.mit.edu 37 10 115804639 115804639 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr10:115804639G>A ENST00000369295.2 + 1 834 c.748G>A c.(748-750)Gag>Aag p.E250K NM_000684.2 NP_000675.1 P08588 ADRB1_HUMAN adrenoceptor beta 1 250 positive regulation of cAMP biosynthetic process integral to plasma membrane alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity large_intestine(4)|lung(1)|upper_aerodigestive_tract(1) 6 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0124)|all cancers(201;0.0298) Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246) GGTGTTCCGCGAGGCCCAGAA 0.692000 4 23 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72831193 72831193 + Silent SNP G G T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr16:72831193G>T ENST00000268489.5 - 9 6060 c.5388C>A c.(5386-5388)ctC>ctA p.L1796L ZFHX3_ENST00000397992.5_Silent_p.L882L NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 1796 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) AAGGGAAGAGGAGGTGCTGCT 0.582000 8 73 1.06961e-07 1.16172e-07 1 1 0 ZBTB41 360023 broad.mit.edu 37 1 197147643 197147643 + Splice_Site SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:197147643C>T ENST00000367405.4 - 6 1745 c.e6-1 ZBTB41_ENST00000467322.1_Splice_Site NM_194314.2 NP_919290.2 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 40 CAAAGTAGTTCTGCATTAAAA 0.313000 9 19 0 0 1 0 0 LPAR4 2846 broad.mit.edu 37 X 78011238 78011238 + Missense_Mutation SNP T T G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chrX:78011238T>G ENST00000435339.3 + 2 1258 c.872T>G c.(871-873)aTc>aGc p.I291S NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 TTTGCAAAGATCATGTACCCA 0.418000 7 87 0 0 1 0 0 HNF4G 3174 broad.mit.edu 37 8 76465354 76465354 + Silent SNP T T C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr8:76465354T>C ENST00000396423.2 + 5 661 c.537T>C c.(535-537)tcT>tcC p.S179S HNF4G_ENST00000354370.1_Silent_p.S142S NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 142 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) TCTGTGAATCTATGAAACAGC 0.363000 4 43 0 0 1 0 0 ZNF154 7710 broad.mit.edu 37 19 58216284 58216284 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr19:58216284C>T ENST00000512439.2 - 2 293 c.97G>A c.(97-99)Gag>Aag p.E33K AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF154_ENST00000426889.1_Missense_Mutation_p.E33K Q13106 ZN154_HUMAN zinc finger protein 154 33 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(7)|lung(3) 12 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;0.0257) CTTTGAGCCTCATCAAGGAGA 0.512000 20 89 0 0 1 0 0 YEATS2 55689 broad.mit.edu 37 3 183518262 183518262 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr3:183518262G>A ENST00000305135.5 + 24 3529 c.3334G>A c.(3334-3336)Gaa>Aaa p.E1112K NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 1112 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) AGTGAAGACTGAACCAGAAAC 0.478000 5 55 0 0 1 0 0 CACNA2D1 781 broad.mit.edu 37 7 81799874 81799874 + Missense_Mutation SNP C C A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr7:81799874C>A ENST00000356860.3 - 4 684 c.346G>T c.(346-348)Gat>Tat p.D116Y CACNA2D1_ENST00000423588.1_Missense_Mutation_p.D116Y|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.D116Y NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 116 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) ACTGCAAAATCTTCTCTCCAC 0.333000 13 86 1.5842e-08 1.73995e-08 1 1 0 CPNE6 9362 broad.mit.edu 37 14 24546088 24546088 + Splice_Site SNP A A T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr14:24546088A>T ENST00000397016.2 + 15 1477 c.1166A>T c.(1165-1167)gAg>gTg p.E389V CPNE6_ENST00000216775.2_Splice_Site_p.E389V|CPNE6_ENST00000537691.1_Splice_Site_p.E444V NM_001280558.1 NP_001267487.1 O95741 CPNE6_HUMAN copine VI (neuronal) 389 VWFA. lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport calcium ion binding|transporter activity endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 22 GBM - Glioblastoma multiforme(265;0.0184) TCACTCACAGAGATCTCAGGG 0.582000 3 39 0 0 1 0 0 RHBDD1 84236 broad.mit.edu 37 2 227732028 227732028 + Nonsense_Mutation SNP C C A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr2:227732028C>A ENST00000392062.2 + 5 1084 c.560C>A c.(559-561)tCa>tAa p.S187* RHBDD1_ENST00000341329.3_Nonsense_Mutation_p.S187* NM_001167608.1 NP_001161080.1 Q8TEB9 RHBD1_HUMAN rhomboid domain containing 1 187 integral to membrane serine-type endopeptidase activity breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248) Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175) CATTTATTCTCACCAGGGTAA 0.393000 10 131 4.68919e-08 5.10717e-08 1 1 0 MYO9A 4649 broad.mit.edu 37 15 72324869 72324869 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr15:72324869G>C ENST00000356056.5 - 3 1373 c.901C>G c.(901-903)Caa>Gaa p.Q301E RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000564571.1_Missense_Mutation_p.Q301E|MYO9A_ENST00000566885.1_5'UTR|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.Q301E|MYO9A_ENST00000424560.1_Missense_Mutation_p.Q301E NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 301 Myosin head-like 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TAATTTACTTGAATAAACTTC 0.343000 6 35 0 0 1 0 0 C2orf66 401027 broad.mit.edu 37 2 197674106 197674106 + Silent SNP G G T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr2:197674106G>T ENST00000342506.2 - 1 894 c.6C>A c.(4-6)atC>atA p.I2I NM_213608.2 NP_998773.1 Q6UXQ4 CB066_HUMAN chromosome 2 open reading frame 66 2 extracellular region endometrium(2)|large_intestine(2)|lung(4)|ovary(1) 9 AGCTGTCAATGATCATTGAGA 0.473000 14 76 6.72482e-11 7.49119e-11 1 1 0 TTN 7273 broad.mit.edu 37 2 179417407 179417407 + Nonsense_Mutation SNP C C A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr2:179417407C>A ENST00000589042.1 - 335 90444 c.90220G>T c.(90220-90222)Gaa>Taa p.E30074* TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E21201*|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E27506*|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E21134*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E21009*|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E28433*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 28433 Fibronectin type-III 119. 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) CACGTCTGTTCACCTTTACCT 0.448000 13 48 1.61879e-10 1.79815e-10 1 1 0 SLC7A10 56301 broad.mit.edu 37 19 33699809 33699809 + Silent SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr19:33699809C>T ENST00000253188.4 - 11 1706 c.1560G>A c.(1558-1560)tcG>tcA p.S520S NM_019849.2 NP_062823.1 Q9NS82 AAA1_HUMAN solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration integral to plasma membrane L-serine transmembrane transporter activity central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 18 Esophageal squamous(110;0.137) ATTGTGGCTTCGAGGGCTTGT 0.498000 3 15 0 0 1 0 0 PTBP1 5725 broad.mit.edu 37 19 804124 804124 + Silent SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr19:804124C>T ENST00000356948.6 + 4 627 c.204C>T c.(202-204)atC>atT p.I68I PTBP1_ENST00000394601.4_Silent_p.I68I|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000349038.4_Silent_p.I68I NM_002819.4 NP_002810.1 P26599 PTBP1_HUMAN polypyrimidine tract binding protein 1 68 RRM 1. negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4) 19 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) AGCTCCCCATCGACGTCACGG 0.572000 4 39 0 0 1 0 0 PHKA1 5255 broad.mit.edu 37 X 71800983 71800983 + Missense_Mutation SNP C C T rs140865522 byFrequency TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chrX:71800983C>T ENST00000373545.3 - 32 3853 c.3415G>A c.(3415-3417)Gca>Aca p.A1139T PHKA1_ENST00000373539.3_Missense_Mutation_p.A1198T|PHKA1_ENST00000373542.4_Missense_Mutation_p.A1181T|PHKA1_ENST00000339490.3_Missense_Mutation_p.A1168T|PHKA1_ENST00000541944.1_Missense_Mutation_p.A1109T P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 1181 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) ATGCCAGATGCGGGATCCTTT 0.488000 6 32 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 168830631 168830631 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr3:168830631C>G ENST00000464456.1 - 8 3157 c.1957G>C c.(1957-1959)Gaa>Caa p.E653Q MECOM_ENST00000264674.3_Missense_Mutation_p.E718Q|MECOM_ENST00000433243.2_Missense_Mutation_p.E654Q|MECOM_ENST00000468789.1_Missense_Mutation_p.E653Q|MECOM_ENST00000460814.1_Missense_Mutation_p.E653Q|MECOM_ENST00000392736.3_Missense_Mutation_p.E653Q|MECOM_ENST00000472280.1_Missense_Mutation_p.E654Q|MECOM_ENST00000494292.1_Missense_Mutation_p.E841Q NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 TTTAAAGCTTCAAGTGGGTCA 0.353000 6 78 0 0 1 0 0 HMHA1 23526 broad.mit.edu 37 19 1085775 1085775 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr19:1085775G>A ENST00000313093.2 + 23 3412 c.3181G>A c.(3181-3183)Gag>Aag p.E1061K HMHA1_ENST00000591169.1_3'UTR|HMHA1_ENST00000536472.1_Missense_Mutation_p.E929K|HMHA1_ENST00000543365.1_Missense_Mutation_p.E944K|HMHA1_ENST00000590214.1_Missense_Mutation_p.E1088K|HMHA1_ENST00000539243.2_Missense_Mutation_p.E1077K|HMHA1_ENST00000590577.1_Missense_Mutation_p.E696K|HMHA1_ENST00000586866.1_Missense_Mutation_p.E1065K NM_012292.3 NP_036424.2 Q92619 HMHA1_HUMAN histocompatibility (minor) HA-1 1061 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2) 16 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCAGCAGAGCGAGGCCAGCCT 0.692000 3 22 0 0 1 0 0 WDR96 80217 broad.mit.edu 37 10 105963513 105963513 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr10:105963513C>T ENST00000357060.3 - 8 1127 c.1012G>A c.(1012-1014)Gag>Aag p.E338K WDR96_ENST00000369720.1_Missense_Mutation_p.E269K|WDR96_ENST00000369719.1_Missense_Mutation_p.E269K|WDR96_ENST00000428666.1_Missense_Mutation_p.E339K|WDR96_ENST00000278064.2_Missense_Mutation_p.E269K NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 338 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 AGAAAATCCTCGATCATGTAA 0.328000 12 24 0 0 1 0 0 FOSB 2354 broad.mit.edu 37 19 45973911 45973911 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr19:45973911C>T ENST00000353609.3 + 2 743 c.151C>T c.(151-153)Ccc>Tcc p.P51S ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000590335.1_Missense_Mutation_p.P51S|FOSB_ENST00000591858.1_Intron|FOSB_ENST00000417353.2_Missense_Mutation_p.P51S|FOSB_ENST00000586615.1_Missense_Mutation_p.P2S|FOSB_ENST00000585836.1_Intron|FOSB_ENST00000592811.1_Missense_Mutation_p.P2S|FOSB_ENST00000592436.1_Missense_Mutation_p.P51S|FOSB_ENST00000443841.2_Intron NM_006732.2 NP_006723.2 P53539 FOSB_HUMAN FBJ murine osteosarcoma viral oncogene homolog B 51 behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1) 13 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242) CGGGGAAATGCCCGGTTCCTT 0.592000 4 131 0 0 1 0 0 ZSCAN22 342945 broad.mit.edu 37 19 58849961 58849961 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr19:58849961G>C ENST00000329665.4 + 3 892 c.745G>C c.(745-747)Gat>Cat p.D249H NM_181846.2 NP_862829.1 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 249 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2) 16 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) AGACAAATTTGATCTGGTGGA 0.542000 20 136 0 0 1 0 0 MEA1 4201 broad.mit.edu 37 6 42980715 42980715 + Nonsense_Mutation SNP C C A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr6:42980715C>A ENST00000244711.3 - 3 509 c.355G>T c.(355-357)Gag>Tag p.E119* NM_014623.2 NP_055438.1 Q16626 MEA1_HUMAN male-enhanced antigen 1 119 cell differentiation|male gonad development|spermatogenesis protein binding central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1) 6 Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) GCTCCCTCCTCATCTTCATCT 0.488000 9 70 0.00829132 0.00844246 1 1 0 NEUROD6 63974 broad.mit.edu 37 7 31378020 31378020 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr7:31378020C>T ENST00000297142.3 - 2 1185 c.863G>A c.(862-864)gGc>gAc p.G288D NM_022728.2 NP_073565.2 Q96NK8 NDF6_HUMAN neuronal differentiation 6 288 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.G288V(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 GTAATGCATGCCGTAATTGTA 0.493000 23 50 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183713484 183713484 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr4:183713484G>C ENST00000511685.1 + 26 5782 c.5659G>C c.(5659-5661)Gac>Cac p.D1887H TENM3_ENST00000406950.2_Missense_Mutation_p.D1887H teneurin transmembrane protein 3 CGATATGTGGGACCGCCTGTC 0.517000 5 57 0 0 1 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140811520 140811520 + Silent SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr5:140811520C>T ENST00000252085.3 + 1 1336 c.1194C>T c.(1192-1194)taC>taT p.Y398Y PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAAAATCTTACGGAAATTACT 0.428000 10 57 0 0 1 0 0 PDIA5 10954 broad.mit.edu 37 3 122808040 122808040 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr3:122808040C>T ENST00000316218.7 + 2 163 c.68C>T c.(67-69)tCt>tTt p.S23F NM_006810.3 NP_006801.1 Q14554 PDIA5_HUMAN protein disulfide isomerase family A, member 5 23 cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress endoplasmic reticulum lumen electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 21 GBM - Glioblastoma multiforme(114;0.0427) TGGCTGTCCTCTGCAAAGGTC 0.522000 5 53 0 0 1 0 0 ZNF177 7730 broad.mit.edu 37 19 9492324 9492324 + Silent SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr19:9492324G>C ENST00000541595.2 + 12 1466 c.837G>C c.(835-837)ctG>ctC p.L279L ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000343499.4_Silent_p.L279L|ZNF177_ENST00000434737.2_Silent_p.L439L|ZNF177_ENST00000589262.1_Silent_p.L439L|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000602738.1_Silent_p.L279L NM_001172650.2 NP_001166121.1 Q13360 ZN177_HUMAN zinc finger protein 177 279 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 CCTCTTGCCTGAGGGTACACG 0.433000 20 128 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19477075 19477075 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:19477075C>G ENST00000375267.2 - 49 7429 c.7426G>C c.(7426-7428)Gag>Cag p.E2476Q UBR4_ENST00000375254.3_Missense_Mutation_p.E2476Q|UBR4_ENST00000375226.2_Missense_Mutation_p.E2476Q|UBR4_ENST00000375217.2_Missense_Mutation_p.E2476Q Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 2476 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding p.E2476Q(1) 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) TGGTACCTCTCCAGGACAGTT 0.522000 17 84 0 0 1 0 0 GAK 2580 broad.mit.edu 37 4 861181 861181 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr4:861181G>A ENST00000314167.4 - 21 2545 c.2435C>T c.(2434-2436)tCc>tTc p.S812F GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.S733F NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 812 cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) GCTCTCCTTGGAAGAGGCATT 0.587000 4 49 0 0 1 0 0 KLF6 1316 broad.mit.edu 37 10 3824197 3824197 + Silent SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr10:3824197C>T ENST00000497571.1 - 2 572 c.312G>A c.(310-312)ctG>ctA p.L104L KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000542957.1_Silent_p.L104L|KLF6_ENST00000469435.1_Silent_p.L104L NM_001160124.1|NM_001300.5 NP_001153596.1|NP_001291.3 Q99612 KLF6_HUMAN Kruppel-like factor 6 104 B cell differentiation nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Colorectal(1;0.238) CATCTGAGTTCAGGCTGTTGG 0.517000 OREG0019980 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 234 0 0 1 0 0 CEP170 9859 broad.mit.edu 37 1 243349355 243349355 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:243349355C>T ENST00000366542.1 - 10 1343 c.1292G>A c.(1291-1293)aGa>aAa p.R431K CEP170_ENST00000366544.1_Intron|CEP170_ENST00000366543.1_Intron NM_014812.2 NP_055627.2 Q5SW79 CE170_HUMAN centrosomal protein 170kDa 431 centriole|microtubule|spindle NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 62 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) ATGCCCCCCTCTGTGATGCGC 0.423000 9 22 0 0 1 0 0 ZNF197 10168 broad.mit.edu 37 3 44685051 44685051 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr3:44685051G>C ENST00000396058.1 + 5 2596 c.2429G>C c.(2428-2430)aGa>aCa p.R810T RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000344387.4_Missense_Mutation_p.R810T|ZNF197_ENST00000383744.4_Intron O14709 ZN197_HUMAN zinc finger protein 197 810 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) GGACATCAGAGAATTCACACG 0.433000 8 85 0 0 1 0 0 MCM10 55388 broad.mit.edu 37 10 13213041 13213041 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr10:13213041G>C ENST00000378694.1 + 2 202 c.127G>C c.(127-129)Gat>Cat p.D43H MCM10_ENST00000484800.2_Missense_Mutation_p.D43H|MCM10_ENST00000378714.3_Missense_Mutation_p.D43H Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 43 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 CGACGCATTTGATGAGCTCTT 0.478000 35 226 0 0 1 0 0 HDAC6 10013 broad.mit.edu 37 X 48678570 48678570 + Silent SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chrX:48678570C>T ENST00000334136.5 + 23 2423 c.2245C>T c.(2245-2247)Ctg>Ttg p.L749L HDAC6_ENST00000376619.2_Silent_p.L749L|HDAC6_ENST00000444343.2_Silent_p.L763L Q9UBN7 HDAC6_HUMAN histone deacetylase 6 749 Histone deacetylase 2. aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 Vorinostat(DB02546) GGGGGATCCGCTGGGGGGCTG 0.572000 10 55 0 0 1 0 0 NEFM 4741 broad.mit.edu 37 8 24771450 24771450 + Silent SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr8:24771450G>A ENST00000221166.5 + 1 926 c.144G>A c.(142-144)gtG>gtA p.V48V GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000437366.2_Silent_p.V48V|NEFM_ENST00000518131.1_Silent_p.V48V|NEFM_ENST00000521540.1_3'UTR P07197 NFM_HUMAN neurofilament, medium polypeptide 48 Head. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) CCAGCACCGTGTCCTCCTCCT 0.687000 6 24 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91731955 91731955 + Silent SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr7:91731955C>T ENST00000359028.2 + 46 11382 c.11157C>T c.(11155-11157)ctC>ctT p.L3719L AKAP9_ENST00000356239.3_Silent_p.L3715L|AKAP9_ENST00000358100.2_Silent_p.L3665L Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 3719 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GAAAGGCTCTCATTTACCAGA 0.458000 T BRAF papillary thyroid 16 48 0 0 1 0 0 ESRRG 2104 broad.mit.edu 37 1 216850770 216850770 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:216850770C>G ENST00000391890.3 - 4 568 c.51G>C c.(49-51)aaG>aaC p.K17N ESRRG_ENST00000366938.2_Missense_Mutation_p.K17N|ESRRG_ENST00000487276.1_Missense_Mutation_p.K17N|ESRRG_ENST00000366940.2_Missense_Mutation_p.K17N|ESRRG_ENST00000463665.1_Missense_Mutation_p.K17N|ESRRG_ENST00000493603.1_Missense_Mutation_p.K17N|ESRRG_ENST00000360012.3_Missense_Mutation_p.K17N|ESRRG_ENST00000493748.1_Missense_Mutation_p.K17N|ESRRG_ENST00000366937.1_Missense_Mutation_p.K45N|ESRRG_ENST00000361525.3_Missense_Mutation_p.K17N|ESRRG_ENST00000361395.2_Missense_Mutation_p.K17N|ESRRG_ENST00000408911.3_Missense_Mutation_p.K40N|ESRRG_ENST00000359162.2_Missense_Mutation_p.K17N NM_001243515.1|NM_001243519.1 NP_001230444.1|NP_001230448.1 P62508 ERR3_HUMAN estrogen-related receptor gamma 40 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) AAGGTTCCGTCTTGATGAAGG 0.517000 13 17 0 0 1 0 0 MIB1 57534 broad.mit.edu 37 18 19395622 19395622 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr18:19395622G>A ENST00000261537.6 + 11 1789 c.1525G>A c.(1525-1527)Gaa>Aaa p.E509K MIB1_ENST00000578646.1_3'UTR NM_020774.2 NP_065825.1 Q86YT6 MIB1_HUMAN mindbomb E3 ubiquitin protein ligase 1 509 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) TTTTGGAGATGAAGGCGCTGT 0.378000 6 38 0 0 1 0 0 SEZ6 124925 broad.mit.edu 37 17 27284533 27284533 + Missense_Mutation SNP T T C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr17:27284533T>C ENST00000317338.12 - 12 2755 c.2327A>G c.(2326-2328)gAt>gGt p.D776G SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000442608.3_Missense_Mutation_p.D776G|SEZ6_ENST00000360295.9_Missense_Mutation_p.D776G|PIPOX_ENST00000583215.1_Intron Q53EL9 SEZ6_HUMAN seizure related 6 homolog (mouse) 776 Sushi 4. integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 29 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) GTGCTCCACATCTCCAGGATC 0.572000 3 19 0 0 1 0 0 FGF19 9965 broad.mit.edu 37 11 69514275 69514275 + Missense_Mutation SNP A A G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr11:69514275A>G ENST00000294312.3 - 3 1171 c.406T>C c.(406-408)Tcc>Ccc p.S136P NM_005117.2 NP_005108.1 O95750 FGF19_HUMAN fibroblast growth factor 19 136 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import|positive regulation of JNK cascade extracellular region fibroblast growth factor receptor binding|growth factor activity large_intestine(2)|lung(2)|skin(2) 6 all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) TGCTTCTCGGATCGGTACACA 0.552000 8 919 0 0 1 0 0 MTL5 9633 broad.mit.edu 37 11 68483325 68483325 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr11:68483325C>T ENST00000255087.5 - 7 1183 c.1000G>A c.(1000-1002)Gaa>Aaa p.E334K NM_004923.3 NP_004914.2 Q9Y4I5 MTL5_HUMAN metallothionein-like 5, testis-specific (tesmin) 334 cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis cytoplasm|nucleus|soluble fraction metal ion binding breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 15 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) TTAAACCGTTCAATATCATGA 0.353000 31 361 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32624119 32624119 + Silent SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr21:32624119C>T ENST00000286827.3 - 6 1821 c.1350G>A c.(1348-1350)aaG>aaA p.K450K TIAM1_ENST00000541036.1_Silent_p.K450K|TIAM1_ENST00000469412.1_5'UTR NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 450 PH 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 CCTTCTTGTTCTTCTTGTGCA 0.637000 6 65 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559207 140559207 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr5:140559207G>A ENST00000239444.2 + 1 1837 c.1592G>A c.(1591-1593)cGg>cAg p.R531Q NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 531 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R531Q(1) NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCGAGTTCCGGGTGGGCGCT 0.672000 15 82 0 0 1 0 0 TOR1B 27348 broad.mit.edu 37 9 132565547 132565547 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr9:132565547C>T ENST00000259339.2 + 1 116 c.56C>T c.(55-57)gCc>gTc p.A19V TOR1B_ENST00000486372.1_3'UTR NM_014506.1 NP_055321.1 O14657 TOR1B_HUMAN torsin family 1, member B (torsin B) 19 chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen ATP binding|nucleoside-triphosphatase activity|unfolded protein binding endometrium(3)|kidney(1)|large_intestine(1)|lung(7) 12 Ovarian(14;0.0586) CTGCTGGCGGCCCGAGTGGTG 0.726000 4 9 0 0 1 0 0 RIF1 55183 broad.mit.edu 37 2 152324596 152324596 + Missense_Mutation SNP C C A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr2:152324596C>A ENST00000243326.5 + 30 7166 c.6683C>A c.(6682-6684)tCc>tAc p.S2228Y RIF1_ENST00000430328.2_Missense_Mutation_p.S2228Y|RIF1_ENST00000428287.2_Missense_Mutation_p.S2228Y|RIF1_ENST00000444746.2_Missense_Mutation_p.S2228Y|RIF1_ENST00000453091.2_Missense_Mutation_p.S2228Y Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) Interaction with condensed chromosomes in telophase. cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) ATTGTTAGGTCCCATTCTTCC 0.393000 8 66 0.000157383 0.000166767 1 1 0 H6PD 9563 broad.mit.edu 37 1 9323957 9323957 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:9323957C>T ENST00000377403.2 + 5 1707 c.1405C>T c.(1405-1407)Cgg>Tgg p.R469W H6PD_ENST00000602477.1_Missense_Mutation_p.R480W NM_001282587.1|NM_004285.3 NP_001269516.1|NP_004276.2 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) 469 Glucose 1-dehydrogenase. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) CTTCCATGGCCGGAAGAATTT 0.602000 11 103 0 0 1 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41739487 41739487 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr22:41739487G>A ENST00000352645.4 + 13 1623 c.1366G>A c.(1366-1368)Ggc>Agc p.G456S ZC3H7B_ENST00000351589.4_Missense_Mutation_p.G456S NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 472 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CATCCTGCTCGGCCGGCTCCG 0.642000 4 44 0 0 1 0 0 RBM43 375287 broad.mit.edu 37 2 152107755 152107755 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr2:152107755G>C ENST00000331426.5 - 4 890 c.739C>G c.(739-741)Ctg>Gtg p.L247V NM_198557.2 NP_940959.1 Q6ZSC3 RBM43_HUMAN RNA binding motif protein 43 247 nucleotide binding|RNA binding endometrium(2)|large_intestine(3)|lung(2)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(221;0.131) TCCTGACTCAGAATGTGGAAT 0.378000 5 64 0 0 1 0 0 OTOL1 131149 broad.mit.edu 37 3 161214869 161214869 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr3:161214869C>G ENST00000327928.4 + 1 274 c.274C>G c.(274-276)Ctt>Gtt p.L92V NM_001080440.1 NP_001073909.1 A6NHN0 OTOL1_HUMAN otolin 1 92 collagen central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1) 27 AAACTTCACTCTTGACCCAGC 0.463000 4 93 0 0 1 0 0 CCDC96 257236 broad.mit.edu 37 4 7043426 7043426 + Nonsense_Mutation SNP C C A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr4:7043426C>A ENST00000310085.4 - 1 1302 c.1240G>T c.(1240-1242)Gag>Tag p.E414* RP11-367J11.2_ENST00000500031.1_RNA NM_153376.2 NP_699207.1 Q2M329 CCD96_HUMAN coiled-coil domain containing 96 414 endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1) 11 GTTTGGTTCTCAATCTTCAGC 0.453000 24 95 1.22574e-08 1.35385e-08 1 1 0 USP9X 8239 broad.mit.edu 37 X 41060386 41060386 + Silent SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chrX:41060386G>C ENST00000324545.8 + 31 5310 c.4677G>C c.(4675-4677)ctG>ctC p.L1559L USP9X_ENST00000378308.2_Silent_p.L1559L NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity p.L1552L(1) NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 TCGTGGGGCTGAAAAATGCCG 0.468000 5 58 0 0 1 0 0 GOLGA1 2800 broad.mit.edu 37 9 127650667 127650667 + Silent SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr9:127650667C>G ENST00000373555.4 - 19 2103 c.1770G>C c.(1768-1770)tcG>tcC p.S590S NM_002077.3 NP_002068 Q92805 GOGA1_HUMAN golgin A1 590 Golgi cisterna membrane NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 20 GCATGGCCCTCGAGGTCACCT 0.557000 20 44 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40084466 40084466 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr20:40084466C>G ENST00000373233.3 - 19 3160 c.2983G>C c.(2983-2985)Gag>Cag p.E995Q CHD6_ENST00000309279.7_Intron NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 995 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) CCTTTCCCCTCAGACTGGATG 0.483000 20 257 0 0 1 0 0 PPIG 9360 broad.mit.edu 37 2 170493929 170493929 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr2:170493929G>C ENST00000260970.3 + 14 2381 c.2161G>C c.(2161-2163)Gaa>Caa p.E721Q PPIG_ENST00000409714.3_Missense_Mutation_p.E706Q|PPIG_ENST00000448752.2_Missense_Mutation_p.E721Q NM_004792.2 NP_004783.2 Q13427 PPIG_HUMAN peptidylprolyl isomerase G (cyclophilin G) 721 protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1) 43 L-Proline(DB00172) AGTGGAAAAAGAAAACCAAAA 0.343000 8 44 0 0 1 0 0 CACNA1F 778 broad.mit.edu 37 X 49070723 49070723 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chrX:49070723C>G ENST00000376265.2 - 30 3698 c.3637G>C c.(3637-3639)Gag>Cag p.E1213Q CACNA1F_ENST00000323022.5_Missense_Mutation_p.E1202Q|CACNA1F_ENST00000376251.1_Missense_Mutation_p.E1148Q NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 1213 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) GCAGTCTGCTCATAGTGCTGC 0.532000 10 47 0 0 1 0 0 MAMSTR 284358 broad.mit.edu 37 19 49216635 49216635 + Silent SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr19:49216635C>G ENST00000318083.6 - 10 1200 c.1137G>C c.(1135-1137)ctG>ctC p.L379L MAMSTR_ENST00000594582.1_Silent_p.L211L|MAMSTR_ENST00000356751.4_Silent_p.L276L|MAMSTR_ENST00000377367.3_Silent_p.L211L|MAMSTR_ENST00000419611.1_Silent_p.L276L Q6ZN01 MASTR_HUMAN MEF2 activating motif and SAP domain containing transcriptional regulator 379 Pro-rich.|Ser-rich.|Transcription activation (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(1)|ovary(1) 2 GACCCCCGCTCAGGGCCTCCA 0.647000 OREG0025608 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 29 0 0 1 0 0 TCF25 22980 broad.mit.edu 37 16 89965217 89965217 + Silent SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr16:89965217C>T ENST00000263346.8 + 11 1214 c.1158C>T c.(1156-1158)atC>atT p.I386I TCF25_ENST00000263347.7_Silent_p.I151I NM_014972.2 NP_055787.1 Q9BQ70 TCF25_HUMAN transcription factor 25 (basic helix-loop-helix) 386 heart development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2) 18 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) TGCTGCTCATCGACCACCTGG 0.657000 8 34 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218745672 218745672 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr2:218745672G>A ENST00000171887.4 - 16 1455 c.1003C>T c.(1003-1005)Cgc>Tgc p.R335C TNS1_ENST00000430930.1_Missense_Mutation_p.R335C|TNS1_ENST00000419504.1_Missense_Mutation_p.R335C|TNS1_ENST00000310858.6_Missense_Mutation_p.R366C NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 335 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GAGTCCCAGCGGATGAGGGGG 0.612000 5 35 0 0 1 0 0 NBPF14 25832 broad.mit.edu 37 1 148008607 148008607 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:148008607C>T ENST00000369219.1 - 17 1997 c.1981G>A c.(1981-1983)Gaa>Aaa p.E661K Q5TI25 NBPFE_HUMAN neuroblastoma breakpoint family, member 14 661 NBPF 7. cytoplasm NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) TCTTCCACTTCTTGGTACTTT 0.428000 23 529 0 0 1 0 0 PNLIPRP3 119548 broad.mit.edu 37 10 118225615 118225615 + Nonsense_Mutation SNP G G T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr10:118225615G>T ENST00000369230.3 + 8 1008 c.862G>T c.(862-864)Gaa>Taa p.E288* NM_001011709.2 NP_001011709.2 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 288 lipid catabolic process extracellular region triglyceride lipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 all cancers(201;0.0131) ATTTTATGCTGAAAGCATTCT 0.318000 7 63 0.00307968 0.00317719 1 1 0 MARK1 4139 broad.mit.edu 37 1 220835326 220835326 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:220835326G>C ENST00000402574.1 + 17 2758 c.1756G>C c.(1756-1758)Gag>Cag p.E586Q MARK1_ENST00000366917.4_Missense_Mutation_p.E736Q|MARK1_ENST00000366918.4_Missense_Mutation_p.E699Q NM_018650.3 NP_061120.3 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 736 intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1) 63 GBM - Glioblastoma multiforme(131;0.0407) TGAGCAAAAAGAGAGATTTTT 0.433000 5 75 0 0 1 0 0 RFX7 64864 broad.mit.edu 37 15 56388201 56388201 + Silent SNP T T A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr15:56388201T>A ENST00000423270.1 - 9 1724 c.1725A>T c.(1723-1725)acA>acT p.T575T RFX7_ENST00000559447.2_Silent_p.T478T|RFX7_ENST00000422057.1_Silent_p.T478T|RFX7_ENST00000317318.6_Silent_p.T575T NM_022841.5 NP_073752.5 Q2KHR2 RFX7_HUMAN regulatory factor X, 7 478 regulation of transcription, DNA-dependent nucleus DNA binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 GTGCTCCGTCTGTATTACTTT 0.438000 3 27 0 0 1 0 0 ZNF236 7776 broad.mit.edu 37 18 74637250 74637250 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr18:74637250C>T ENST00000253159.8 + 22 3959 c.3761C>T c.(3760-3762)cCg>cTg p.P1254L ZNF236_ENST00000320610.9_Missense_Mutation_p.P1256L NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 1254 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) TTCAAATGCCCGCATTGCGAG 0.532000 5 42 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107049681 107049681 + Missense_Mutation SNP T T C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr2:107049681T>C ENST00000409886.3 - 16 2353 c.2266A>G c.(2266-2268)Aac>Gac p.N756D RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 756 intracellular transport binding p.N756D(6) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCACTATAGTTTTCGAGTTCC 0.373000 4 424 0 0 1 0 0 DCP1B 196513 broad.mit.edu 37 12 2061975 2061975 + Silent SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr12:2061975G>C ENST00000280665.6 - 7 1210 c.1131C>G c.(1129-1131)gcC>gcG p.A377A DCP1B_ENST00000397173.4_Silent_p.A275A|DCP1B_ENST00000540622.1_Silent_p.A251A|DCP1B_ENST00000541700.1_5'UTR NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 377 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) CAGCTGAGCTGGCAGGTGCTG 0.557000 14 55 0 0 1 0 0 OR6F1 343169 broad.mit.edu 37 1 247875357 247875357 + Missense_Mutation SNP C C A rs138204394 TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:247875357C>A ENST00000302084.2 - 1 748 c.701G>T c.(700-702)cGg>cTg p.R234L RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GGCTTTGCTCCGGCCACTGGC 0.527000 12 78 1.41608e-15 1.59564e-15 1 1 0 TBC1D10A 83874 broad.mit.edu 37 22 30722780 30722780 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr22:30722780C>G ENST00000215790.7 - 1 255 c.91G>C c.(91-93)Gac>Cac p.D31H TBC1D10A_ENST00000490449.1_5'UTR|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.D31H NM_031937.2 NP_114143.1 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 31 intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 GTTGCGGCGTCGGGGCCCTGG 0.706000 3 20 0 0 1 0 0 SCGB2A1 4246 broad.mit.edu 37 11 61978051 61978051 + Silent SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr11:61978051G>C ENST00000244930.4 + 2 286 c.222G>C c.(220-222)ctG>ctC p.L74L NM_002407.2 NP_002398.1 O75556 SG2A1_HUMAN secretoglobin, family 2A, member 1 74 extracellular region androgen binding breast(1)|kidney(1)|large_intestine(2)|lung(2) 6 ATAGAACTCTGAAAAACTTTG 0.418000 9 79 0 0 1 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156906710 156906710 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:156906710C>T ENST00000368194.3 - 40 5567 c.4528G>A c.(4528-4530)Gaa>Aaa p.E1510K ARHGEF11_ENST00000315174.8_Missense_Mutation_p.E886K|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.E1470K NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 1470 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTAGCTGCTTCTGTGTGGAAA 0.602000 7 66 0 0 1 0 0 KHDRBS1 10657 broad.mit.edu 37 1 32503557 32503557 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:32503557C>G ENST00000327300.7 + 6 1194 c.1027C>G c.(1027-1029)Cca>Gca p.P343A KHDRBS1_ENST00000307714.8_3'UTR|KHDRBS1_ENST00000492989.1_Missense_Mutation_p.P304A NM_006559.1 NP_006550.1 Q07666 KHDR1_HUMAN KH domain containing, RNA binding, signal transduction associated 1 343 Pro-rich. cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent membrane|nucleus DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 14 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GAGGGGTGCTCCAGCACCAAG 0.552000 9 73 0 0 1 0 0 PYGB 5834 broad.mit.edu 37 20 25259060 25259060 + Missense_Mutation SNP G G T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr20:25259060G>T ENST00000216962.4 + 8 1071 c.961G>T c.(961-963)Gac>Tac p.D321Y NM_002862.3 NP_002853.2 P11216 PYGB_HUMAN phosphorylase, glycogen; brain 321 glucose metabolic process|glycogen catabolic process cytoplasm glycogen phosphorylase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 31 Pyridoxal Phosphate(DB00114) CGGCTGCCGGGACCCTGTGAG 0.632000 8 51 5.68852e-11 6.3731e-11 1 1 0 AHR 196 broad.mit.edu 37 7 17375399 17375399 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr7:17375399G>C ENST00000242057.4 + 9 1792 c.1149G>C c.(1147-1149)caG>caC p.Q383H AHR_ENST00000492120.1_3'UTR NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 383 PAC. apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding p.Q383H(2) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) TTGTAACTCAGAGACCACTAA 0.348000 3 25 0 0 1 0 0 KIAA1033 23325 broad.mit.edu 37 12 105520099 105520099 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr12:105520099G>A ENST00000332180.5 + 12 1084 c.997G>A c.(997-999)Gat>Aat p.D333N NM_015275.1 NP_056090.1 Q2M389 WAHS7_HUMAN KIAA1033 333 endosome transport WASH complex breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 TCGAACTATTGATAAAAAGTT 0.294000 11 52 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 168830608 168830608 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr3:168830608C>G ENST00000464456.1 - 8 3180 c.1980G>C c.(1978-1980)ttG>ttC p.L660F MECOM_ENST00000264674.3_Missense_Mutation_p.L725F|MECOM_ENST00000433243.2_Missense_Mutation_p.L661F|MECOM_ENST00000468789.1_Missense_Mutation_p.L660F|MECOM_ENST00000460814.1_Missense_Mutation_p.L660F|MECOM_ENST00000392736.3_Missense_Mutation_p.L660F|MECOM_ENST00000472280.1_Missense_Mutation_p.L661F|MECOM_ENST00000494292.1_Missense_Mutation_p.L848F NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity p.L660F(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 GAGAAGGCCTCAAGTATTTCT 0.363000 6 83 0 0 1 0 0 AKR1E2 83592 broad.mit.edu 37 10 4883978 4883978 + Splice_Site SNP G G T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr10:4883978G>T ENST00000298375.7 + 7 753 c.682G>T c.(682-684)Gag>Tag p.E228* AKR1E2_ENST00000345253.5_Intron|AKR1E2_ENST00000525281.1_Intron|AKR1E2_ENST00000334019.4_Intron|AKR1E2_ENST00000532248.1_Intron NM_001040177.2 NP_001035267.1 Q96JD6 AKCL2_HUMAN aldo-keto reductase family 1, member E2 228 cytoplasm 1,5-anhydro-D-fructose reductase activity NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9) 15 TCTCTCTAGTGAGGGGGTTGA 0.488000 5 28 0.0293803 0.0297609 1 1 0 TRIM16 10626 broad.mit.edu 37 17 15539571 15539571 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr17:15539571C>T ENST00000455584.2 - 3 671 c.628G>A c.(628-630)Gag>Aag p.E210K TRIM16_ENST00000581224.1_5'UTR|TRIM16_ENST00000579219.1_5'UTR|TRIM16_ENST00000577886.1_5'UTR|TRIM16_ENST00000336708.7_Missense_Mutation_p.E210K|TRIM16_ENST00000416464.2_Missense_Mutation_p.E80K|TRIM16_ENST00000578237.1_Missense_Mutation_p.E210K GCTTTGACCTCTGACACCGAC 0.522000 5 46 0 0 1 0 0 OR2J3 442186 broad.mit.edu 37 6 29080385 29080385 + Missense_Mutation SNP G G T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr6:29080385G>T ENST00000377169.1 + 1 718 c.718G>T c.(718-720)Gtg>Ttg p.V240L NM_001005216.2 NP_001005216.2 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, member 3 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 GCTTCAGAAAGTGTTTGGAAC 0.453000 16 51 1.15088e-07 1.24652e-07 1 1 0 UBP1 7342 broad.mit.edu 37 3 33458307 33458307 + Silent SNP C C A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr3:33458307C>A ENST00000283629.3 - 3 814 c.285G>T c.(283-285)cgG>cgT p.R95R UBP1_ENST00000283628.5_Silent_p.R95R|UBP1_ENST00000447368.2_Silent_p.R95R NM_001128161.1|NM_014517.4 NP_001121633.1|NP_055332.3 Q9NZI7 UBIP1_HUMAN upstream binding protein 1 (LBP-1a) 95 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2) 23 TATCCAGCATCCGAATTTCAT 0.318000 3 43 0.115264 0.115857 1 1 0 SLC22A13 9390 broad.mit.edu 37 3 38317440 38317440 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr3:38317440C>G ENST00000311856.4 + 7 1139 c.1090C>G c.(1090-1092)Ctg>Gtg p.L364V SLC22A13_ENST00000450935.2_3'UTR NM_004256.3 NP_004247.2 Q9Y226 S22AD_HUMAN solute carrier family 22 (organic anion/urate transporter), member 13 364 integral to plasma membrane organic cation transmembrane transporter activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1) 20 KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067) GGACGTCTATCTGACGCAGCT 0.567000 6 27 0 0 1 0 0 ZBTB41 360023 broad.mit.edu 37 1 197147629 197147629 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:197147629C>T ENST00000367405.4 - 6 1758 c.1690G>A c.(1690-1692)Gaa>Aaa p.E564K ZBTB41_ENST00000467322.1_5'UTR NM_194314.2 NP_919290.2 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 564 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 40 CTCAAATGTTCTTTCAAAGTA 0.308000 10 24 0 0 1 0 0 N6AMT1 29104 broad.mit.edu 37 21 30257611 30257611 + Silent SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr21:30257611G>A ENST00000303775.5 - 1 82 c.57C>T c.(55-57)ttC>ttT p.F19F N6AMT1_ENST00000351429.3_Silent_p.F19F NM_013240.4 NP_037372 Q9Y5N5 HEMK2_HUMAN N-6 adenine-specific DNA methyltransferase 1 (putative) 19 positive regulation of cell growth protein complex nucleic acid binding|protein binding|protein methyltransferase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2) 12 ACACGTCGCTGAAGGCGCCGC 0.682000 6 57 0 0 1 0 0 VPS35 55737 broad.mit.edu 37 16 46696966 46696966 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr16:46696966G>C ENST00000299138.7 - 14 1814 c.1756C>G c.(1756-1758)Caa>Gaa p.Q586E NM_018206.4 NP_060676.2 Q96QK1 VPS35_HUMAN vacuolar protein sorting 35 homolog (S. cerevisiae) 586 protein transport|retrograde transport, endosome to Golgi cytosol|endosome|membrane protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1) 23 all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) AGTGCTCCTTGAAGAAAAAGT 0.418000 14 64 0 0 1 0 0 DPEP3 64180 broad.mit.edu 37 16 68011252 68011252 + Silent SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr16:68011252C>T ENST00000268793.4 - 7 1387 c.1014G>A c.(1012-1014)aaG>aaA p.K338K NM_001129758.1|NM_022357.3 NP_001123230.1|NP_071752.3 Q9H4B8 DPEP3_HUMAN dipeptidase 3 313 meiosis anchored to membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236) TGCCACCGTTCTTCTTCTAGA 0.567000 3 20 0 0 1 0 0 ZNF135 7694 broad.mit.edu 37 19 58578485 58578485 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr19:58578485G>C ENST00000506786.1 + 5 1061 c.507G>C c.(505-507)gaG>gaC p.E169D ZNF135_ENST00000359978.6_Missense_Mutation_p.E223D|ZNF135_ENST00000439855.2_Missense_Mutation_p.E211D|ZNF135_ENST00000401053.4_Missense_Mutation_p.E235D|ZNF135_ENST00000511556.1_Missense_Mutation_p.E223D|ZNF135_ENST00000313434.5_Missense_Mutation_p.E211D B4DHH9 B4DHH9_HUMAN zinc finger protein 135 223 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) GTGTAAAAGAGAAACCCTACA 0.473000 9 66 0 0 1 0 0 MORC3 23515 broad.mit.edu 37 21 37721669 37721669 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr21:37721669C>T ENST00000400485.1 + 9 1142 c.1066C>T c.(1066-1068)Cat>Tat p.H356Y MORC3_ENST00000487909.1_3'UTR NM_015358.2 NP_056173.1 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 356 cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization aggresome|intermediate filament cytoskeleton|PML body ATP binding|zinc ion binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 TAAGCCAACTCATAATAAACA 0.328000 3 30 0 0 1 0 0 SUZ12P1 440423 broad.mit.edu 37 17 29061941 29061941 + RNA SNP T T C rs112064181 by1000genomes TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr17:29061941T>C ENST00000582557.1 + 0 861 TAGATTTCTTTGAACTCGGAA 0.303000 4 152 0 0 1 0 0 ZNF655 79027 broad.mit.edu 37 7 99170672 99170672 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr7:99170672G>A ENST00000424881.1 + 4 1266 c.1046G>A c.(1045-1047)cGt>cAt p.R349H ZNF655_ENST00000493277.1_Missense_Mutation_p.R349H|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000394163.2_Missense_Mutation_p.R314H|GS1-259H13.10_ENST00000486324.1_Intron|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000252713.4_Missense_Mutation_p.R314H|GS1-259H13.10_ENST00000455905.1_Intron NM_001083956.1|NM_001085368.1 NP_001077425.1|NP_001078837.1 Q8N720 ZN655_HUMAN zinc finger protein 655 314 G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 16 all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) GTCTTCAGTCGTAGTGTCCAC 0.403000 79 55 0 0 1 0 0 LRP6 4040 broad.mit.edu 37 12 12332875 12332875 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr12:12332875C>G ENST00000261349.4 - 7 1490 c.1414G>C c.(1414-1416)Gag>Cag p.E472Q LRP6_ENST00000543091.1_Missense_Mutation_p.E472Q NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 472 Beta-propeller 2. 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 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|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding 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) GCTGCTCGCTCAATTTTCGGA 0.363000 8 62 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7580810 7580810 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr6:7580810G>A ENST00000379802.3 + 23 4728 c.4387G>A c.(4387-4389)Gta>Ata p.V1463I DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1463 Central fibrous rod domain. 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) AGAGGAGAGCGTAAGATATAA 0.443000 5 55 0 0 1 0 0 CTSZ 1522 broad.mit.edu 37 20 57581417 57581417 + Silent SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr20:57581417G>A ENST00000217131.5 - 2 385 c.267C>T c.(265-267)tgC>tgT p.C89C NM_001336.3 NP_001327.2 Q9UBR2 CATZ_HUMAN cathepsin Z 89 proteolysis endoplasmic reticulum|extracellular space|lysosome cysteine-type endopeptidase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4) 10 all_lung(29;0.00711) Colorectal(105;0.109) AGCAGGAGCCGCAGTATTGGG 0.632000 4 17 0 0 1 0 0 C5orf42 65250 broad.mit.edu 37 5 37183334 37183334 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr5:37183334G>A ENST00000274258.7 - 26 5179 c.1592C>T c.(1591-1593)tCa>tTa p.S531L C5orf42_ENST00000508244.1_Missense_Mutation_p.S1650L|C5orf42_ENST00000425232.2_Missense_Mutation_p.S1650L E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 1650 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) AACCAGTACTGATGATGAAAG 0.333000 6 42 0 0 1 0 0 SLC10A3 8273 broad.mit.edu 37 X 153717065 153717065 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chrX:153717065G>C ENST00000263512.4 - 2 713 c.215C>G c.(214-216)tCt>tGt p.S72C SLC10A3_ENST00000393586.1_Missense_Mutation_p.S127C|SLC10A3_ENST00000369649.4_Missense_Mutation_p.S72C|SLC10A3_ENST00000393587.4_Missense_Mutation_p.S72C NM_019848.3 NP_062822.1 P09131 P3_HUMAN solute carrier family 10, member 3 72 organic anion transport integral to membrane bile acid:sodium symporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CTCCATCACAGAGCCATCTCC 0.637000 12 95 0 0 1 0 0 PDE11A 50940 broad.mit.edu 37 2 178545577 178545577 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr2:178545577G>C ENST00000286063.6 - 16 2717 c.2400C>G c.(2398-2400)atC>atG p.I800M PDE11A_ENST00000358450.4_Missense_Mutation_p.I550M|PDE11A_ENST00000449286.2_Missense_Mutation_p.I442M|PDE11A_ENST00000389683.3_Missense_Mutation_p.I356M|PDE11A_ENST00000409504.1_Missense_Mutation_p.I442M NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) GATGGTTTTTGATGTTCCAAT 0.318000 Primary Pigmented Nodular Adrenocortical Disease, Familial 3 30 0 0 1 0 0 UMPS 7372 broad.mit.edu 37 3 124449419 124449419 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr3:124449419C>T ENST00000232607.2 + 1 207 c.101C>T c.(100-102)tCc>tTc p.S34F UMPS_ENST00000413078.2_5'UTR|UMPS_ENST00000538242.1_5'UTR|UMPS_ENST00000536109.1_5'UTR NM_000373.3 NP_000364.1 P11172 UMPS_HUMAN uridine monophosphate synthetase 34 OPRTase. 'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process cytosol|nucleus orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 16 GBM - Glioblastoma multiforme(114;0.146) GGGCTTTCCTCCCCCATCTAC 0.607000 8 56 0 0 1 0 0 SECISBP2 79048 broad.mit.edu 37 9 91972404 91972404 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr9:91972404G>A ENST00000375807.3 + 15 2263 c.2192G>A c.(2191-2193)cGc>cAc p.R731H SECISBP2_ENST00000339901.4_Missense_Mutation_p.R658H|SECISBP2_ENST00000534113.2_Missense_Mutation_p.R663H NM_001282688.1|NM_001282690.1|NM_024077.3 NP_001269617.1|NP_001269619.1|NP_076982.3 Q96T21 SEBP2_HUMAN SECIS binding protein 2 731 translation nucleus mRNA 3'-UTR binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2) 32 GCTCTCAACCGCAAAGCTCTG 0.507000 30 95 0 0 1 0 0 MTHFS 10588 broad.mit.edu 37 15 80137639 80137639 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr15:80137639G>C ENST00000258874.3 - 3 585 c.525C>G c.(523-525)ttC>ttG p.F175L ST20-MTHFS_ENST00000479961.1_Missense_Mutation_p.F151L NM_006441.3 NP_006432.1 P49914 MTHFS_HUMAN 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase) 175 folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process cytosol|Golgi apparatus|plasma membrane 5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding endometrium(3)|large_intestine(1)|liver(1) 5 all cancers(203;0.00467) TCTGTTCTTTGAAAGCCAACG 0.488000 29 76 0 0 1 0 0 SNCB 6620 broad.mit.edu 37 5 176053481 176053481 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr5:176053481C>T ENST00000310112.3 - 5 450 c.200G>A c.(199-201)gGa>gAa p.G67E SNCB_ENST00000393693.2_Missense_Mutation_p.G67E|SNCB_ENST00000506696.1_Missense_Mutation_p.G67E|SNCB_ENST00000510387.1_Missense_Mutation_p.G67E NM_001001502.1 NP_001001502.1 Q16143 SYUB_HUMAN synuclein, beta 67 4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4). calcium ion binding|phospholipase inhibitor activity breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 10 all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CACAGCTCCTCCCAGATGTGA 0.577000 4 31 0 0 1 0 0 LRRN3 54674 broad.mit.edu 37 7 110764585 110764585 + Nonsense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr7:110764585C>G ENST00000451085.1 + 4 2803 c.1757C>G c.(1756-1758)tCa>tGa p.S586* LRRN3_ENST00000308478.5_Nonsense_Mutation_p.S586*|LRRN3_ENST00000422987.3_Nonsense_Mutation_p.S586*|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron NM_001099660.1 NP_001093130.1 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 586 Fibronectin type-III. integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) CTGAATCCATCAACTGAGTAT 0.358000 5 39 0 0 1 0 0 CREG2 200407 broad.mit.edu 37 2 101971819 101971819 + Silent SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr2:101971819G>A ENST00000324768.5 - 3 758 c.621C>T c.(619-621)atC>atT p.I207I NM_153836.3 NP_722578.1 Q8IUH2 CREG2_HUMAN cellular repressor of E1A-stimulated genes 2 extracellular region FMN binding p.I207I(1) endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 10 CCGGATCAACGATGTTTTTTC 0.393000 4 21 0 0 1 0 0 RIF1 55183 broad.mit.edu 37 2 152276738 152276738 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr2:152276738G>C ENST00000243326.5 + 6 1021 c.538G>C c.(538-540)Gag>Cag p.E180Q RIF1_ENST00000430328.2_Missense_Mutation_p.E180Q|RIF1_ENST00000428287.2_Missense_Mutation_p.E180Q|RIF1_ENST00000444746.2_Missense_Mutation_p.E180Q|RIF1_ENST00000433166.2_Missense_Mutation_p.E180Q|RIF1_ENST00000453091.2_Missense_Mutation_p.E180Q Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) AATGGGAGAAGAGGCAGTGAG 0.413000 4 34 0 0 1 0 0 FXYD4 53828 broad.mit.edu 37 10 43871490 43871490 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr10:43871490G>C ENST00000476166.1 + 8 557 c.223G>C c.(223-225)Gag>Cag p.E75Q FXYD4_ENST00000480834.1_3'UTR NM_173160.2 NP_775183.1 P59646 FXYD4_HUMAN FXYD domain containing ion transport regulator 4 75 integral to membrane NS(1)|large_intestine(1)|lung(3) 5 TCCTGTACCTGAGAAGGCCAT 0.582000 8 53 0 0 1 0 0 LANCL2 55915 broad.mit.edu 37 7 55459488 55459488 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr7:55459488C>G ENST00000254770.2 + 2 785 c.207C>G c.(205-207)atC>atG p.I69M NM_018697.3 NP_061167.1 Q9NS86 LANC2_HUMAN LanC lantibiotic synthetase component C-like 2 (bacterial) 69 negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway cortical actin cytoskeleton|cytosol|nucleus|plasma membrane ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 25 Breast(14;0.0379) Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706) GATCTCAGATCATTCATAATT 0.368000 6 35 0 0 1 0 0 DHX35 60625 broad.mit.edu 37 20 37623488 37623488 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr20:37623488C>G ENST00000252011.3 + 8 640 c.607C>G c.(607-609)Cga>Gga p.R203G DHX35_ENST00000373325.2_Missense_Mutation_p.R203G|DHX35_ENST00000373323.4_Missense_Mutation_p.R172G NM_021931.3 NP_068750.2 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 203 Helicase ATP-binding. catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 40 Myeloproliferative disorder(115;0.00878) AGGGGATCTTCGATTGATTGT 0.398000 15 142 0 0 1 0 0 ZNF197 10168 broad.mit.edu 37 3 44684377 44684377 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr3:44684377G>C ENST00000396058.1 + 5 1922 c.1755G>C c.(1753-1755)caG>caC p.Q585H RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000344387.4_Missense_Mutation_p.Q585H|ZNF197_ENST00000383744.4_Intron O14709 ZN197_HUMAN zinc finger protein 197 585 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) TCTTACATCAGAGAGTCCACA 0.403000 8 87 0 0 1 0 0 C5orf42 65250 broad.mit.edu 37 5 37183433 37183433 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr5:37183433G>C ENST00000274258.7 - 26 5080 c.1493C>G c.(1492-1494)tCt>tGt p.S498C C5orf42_ENST00000508244.1_Missense_Mutation_p.S1617C|C5orf42_ENST00000425232.2_Missense_Mutation_p.S1617C E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 1617 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) AACAAAGCAAGAACCAGCTCT 0.333000 3 41 0 0 1 0 0 SLC24A2 25769 broad.mit.edu 37 9 19576938 19576938 + Silent SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr9:19576938C>T ENST00000341998.2 - 5 1273 c.1212G>A c.(1210-1212)ggG>ggA p.G404G SLC24A2_ENST00000286344.3_Silent_p.G387G NM_001193288.2|NM_020344.3 NP_001180217.1|NP_065077.1 Q9UI40 NCKX2_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 404 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) GGTTGGCAGCCCCATTCTGCC 0.542000 4 41 0 0 1 0 0 HR 55806 broad.mit.edu 37 8 21978696 21978696 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr8:21978696C>T ENST00000381418.4 - 10 3729 c.2249G>A c.(2248-2250)cGa>cAa p.R750Q HR_ENST00000312841.8_Missense_Mutation_p.R750Q NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated 750 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) CAGGGGCCCTCGGCCAGCACG 0.637000 6 94 0 0 1 0 0 CECR2 27443 broad.mit.edu 37 22 18028504 18028504 + Missense_Mutation SNP A A G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr22:18028504A>G ENST00000400573.5 + 17 3468 c.3461A>G c.(3460-3462)tAt>tGt p.Y1154C CECR2_ENST00000262608.8_Missense_Mutation_p.Y1155C|CECR2_ENST00000400585.2_Missense_Mutation_p.Y1012C Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|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) TTTCCCCGGTATCGCCCCCCA 0.572000 4 21 0 0 1 0 0 RNF133 168433 broad.mit.edu 37 7 122338241 122338241 + Silent SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr7:122338241C>T ENST00000340112.2 - 1 969 c.732G>A c.(730-732)gaG>gaA p.E244E CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron NM_139175.1 NP_631914.1 Q8WVZ7 RN133_HUMAN ring finger protein 133 244 endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 CTTCATCCCCCTCTTTTACTA 0.383000 4 132 0 0 1 0 0 GNAT3 346562 broad.mit.edu 37 7 80108170 80108170 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr7:80108170C>T ENST00000398291.3 - 4 541 c.448G>A c.(448-450)Gac>Aac p.D150N CD36_ENST00000435819.1_Intron NM_001102386.1 NP_001095856.1 A8MTJ3 GNAT3_HUMAN guanine nucleotide binding protein, alpha transducing 3 150 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(1)|large_intestine(2)|lung(5)|ovary(1) 9 GCTGCTGAGTCATTGAGCTGA 0.388000 8 51 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102124637 102124637 + Silent SNP C C A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr6:102124637C>A ENST00000369138.1 + 4 1171 c.681C>A c.(679-681)atC>atA p.I227I GRIK2_ENST00000369137.3_Silent_p.I227I|GRIK2_ENST00000358361.3_Silent_p.I227I|GRIK2_ENST00000421544.1_Silent_p.I227I|GRIK2_ENST00000318991.6_Silent_p.I227I|GRIK2_ENST00000413795.1_Silent_p.I227I|GRIK2_ENST00000369134.4_Silent_p.I178I NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 227 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) TTCATGTAATCTTTGATTGTA 0.338000 7 29 0.0293803 0.0297609 1 1 0 GPR161 23432 broad.mit.edu 37 1 168066295 168066295 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:168066295G>A ENST00000367838.1 - 5 863 c.550C>T c.(550-552)Cgg>Tgg p.R184W GPR161_ENST00000367835.1_Missense_Mutation_p.R184W|GPR161_ENST00000537209.1_Missense_Mutation_p.R204W|GPR161_ENST00000361697.2_Missense_Mutation_p.R184W|GPR161_ENST00000539777.1_Missense_Mutation_p.R106W|GPR161_ENST00000271357.5_Missense_Mutation_p.R184W|GPR161_ENST00000367836.1_Missense_Mutation_p.R52W|GPR161_ENST00000546300.1_Missense_Mutation_p.R70W NM_001267611.1|NM_153832.2 NP_001254540.1|NP_722561.1 Q8N6U8 GP161_HUMAN G protein-coupled receptor 161 184 multicellular organismal development integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 all_hematologic(923;0.215) CCAGGCTCCCGGTGCCAAGCA 0.587000 34 19 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153054128 153054128 + Silent SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr5:153054128G>A ENST00000285900.5 + 6 1111 c.768G>A c.(766-768)gtG>gtA p.V256V GRIA1_ENST00000518142.1_Silent_p.V176V|GRIA1_ENST00000518783.1_Silent_p.V266V|GRIA1_ENST00000448073.4_Silent_p.V266V|GRIA1_ENST00000521843.2_Silent_p.V187V|GRIA1_ENST00000340592.5_Silent_p.V256V NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 256 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 alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding 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) TCCAGCTGGTGAACTACACAG 0.512000 10 166 0 0 1 0 0 SMOX 54498 broad.mit.edu 37 20 4168019 4168019 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr20:4168019G>A ENST00000305958.4 + 7 1858 c.1633G>A c.(1633-1635)Gag>Aag p.E545K SMOX_ENST00000346595.2_Missense_Mutation_p.E180K|SMOX_ENST00000339123.6_Missense_Mutation_p.E492K|SMOX_ENST00000379460.2_Missense_Mutation_p.E545K|SMOX_ENST00000278795.3_Missense_Mutation_p.E522K NM_175839.2 NP_787033.1 Q9NWM0 SMOX_HUMAN spermine oxidase 545 polyamine biosynthetic process|xenobiotic metabolic process cytosol|nucleus polyamine oxidase activity breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1) 26 Spermine(DB00127) CCGCCTCATTGAGATGTACCG 0.627000 5 32 0 0 1 0 0 ZNF808 388558 broad.mit.edu 37 19 53057298 53057298 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr19:53057298G>A ENST00000359798.4 + 5 1309 c.1129G>A c.(1129-1131)Gag>Aag p.E377K NM_001039886.3 NP_001034975.2 Q8N4W9 ZN808_HUMAN zinc finger protein 808 377 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(8)|kidney(3)|lung(12)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) TAAGATTTGTGAGAAGGCTTT 0.378000 12 121 0 0 1 0 0 COPS3 8533 broad.mit.edu 37 17 17171213 17171213 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr17:17171213C>T ENST00000539941.2 - 5 575 c.367G>A c.(367-369)Gct>Act p.A123T COPS3_ENST00000268717.5_Missense_Mutation_p.A143T|COPS3_ENST00000439936.2_Missense_Mutation_p.A123T NM_001199125.1 NP_001186054.1 Q9UNS2 CSN3_HUMAN COP9 signalosome subunit 3 143 cullin deneddylation|response to light stimulus|signal transduction cytoplasm|signalosome protein binding NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 13 CAGAGATCAGCATGTATTGAG 0.448000 12 49 0 0 1 0 0 WAPAL 23063 broad.mit.edu 37 10 88259540 88259540 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr10:88259540G>C ENST00000298767.5 - 3 1932 c.1460C>G c.(1459-1461)tCc>tGc p.S487C NM_015045.2 NP_055860.1 Q7Z5K2 WAPL_HUMAN wings apart-like homolog (Drosophila) 487 Mediates interaction with the cohesin complex. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1) 31 AGGCTGCAAGGAGGGTGATGG 0.383000 13 57 0 0 1 0 0 N4BP2L2 10443 broad.mit.edu 37 13 33110366 33110366 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr13:33110366C>G ENST00000267068.3 - 2 963 c.799G>C c.(799-801)Gaa>Caa p.E267Q N4BP2L2_ENST00000446957.2_Missense_Mutation_p.E267Q|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000399396.3_Intron NM_014887.2 NP_055702.1 Q92802 N42L2_HUMAN NEDD4 binding protein 2-like 2 267 kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1) 16 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) GACTGCCATTCAGGCCTGAAA 0.408000 11 45 0 0 1 0 0 RUFY4 285180 broad.mit.edu 37 2 218947875 218947875 + Silent SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr2:218947875G>A ENST00000374155.3 + 10 1868 c.1458G>A c.(1456-1458)caG>caA p.Q486Q RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Silent_p.Q466Q Q6ZNE9 RUFY4_HUMAN RUN and FYVE domain containing 4 466 metal ion binding endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1) 10 Renal(207;0.0915) Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) AGCTGGAGCAGAAGCAACAGG 0.592000 3 23 0 0 1 0 0 OR6F1 343169 broad.mit.edu 37 1 247875356 247875356 + Silent SNP C C A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:247875356C>A ENST00000302084.2 - 1 749 c.702G>T c.(700-702)cgG>cgT p.R234R RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) AGGCTTTGCTCCGGCCACTGG 0.522000 12 77 1.41608e-15 1.59564e-15 1 1 0 GTPBP4 23560 broad.mit.edu 37 10 1060190 1060190 + Nonsense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr10:1060190C>T ENST00000360803.4 + 15 1628 c.1546C>T c.(1546-1548)Cag>Tag p.Q516* GTPBP4_ENST00000545048.1_Nonsense_Mutation_p.Q469*|GTPBP4_ENST00000538293.1_Nonsense_Mutation_p.Q400* NM_012341.2 NP_036473.2 Q9BZE4 NOG1_HUMAN GTP binding protein 4 516 negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1) 21 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) TTCTCAGGTTCAGAGGACAGT 0.368000 6 53 0 0 1 0 0 ZSWIM1 90204 broad.mit.edu 37 20 44512069 44512069 + Missense_Mutation SNP G G T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr20:44512069G>T ENST00000372523.1 + 2 933 c.838G>T c.(838-840)Gct>Tct p.A280S ZSWIM1_ENST00000372520.1_Missense_Mutation_p.A280S NM_080603.4 NP_542170.3 Q9BR11 ZSWM1_HUMAN zinc finger, SWIM-type containing 1 280 zinc ion binding breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 Myeloproliferative disorder(115;0.028) ACAAGGTATGGCTTCTCTGTT 0.542000 9 95 1.58986e-06 1.69846e-06 1 1 0 SPAG1 6674 broad.mit.edu 37 8 101253121 101253121 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr8:101253121G>C ENST00000388798.2 + 19 2843 c.2652G>C c.(2650-2652)atG>atC p.M884I SPAG1_ENST00000251809.3_Missense_Mutation_p.M884I NM_003114.4 NP_003105.2 Q07617 SPAG1_HUMAN sperm associated antigen 1 884 single fertilization cytoplasm GTP binding|hydrolase activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823) Breast(495;0.195) Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525) KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236) TCTTTTAGATGATGTTGACAC 0.313000 7 345 0 0 1 0 0 RANBP17 64901 broad.mit.edu 37 5 170692835 170692835 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr5:170692835C>T ENST00000523189.1 + 25 3091 c.2927C>T c.(2926-2928)cCa>cTa p.P976L RANBP17_ENST00000521759.1_3'UTR NM_022897.3 NP_075048.1 Q9H2T7 RBP17_HUMAN RAN binding protein 17 976 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CAGCAAAACCCAGATGTCCTG 0.488000 T TRD@ ALL 6 61 0 0 1 0 0 SLC16A7 9194 broad.mit.edu 37 12 60168919 60168919 + Silent SNP G G T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr12:60168919G>T ENST00000261187.4 + 4 1007 c.843G>T c.(841-843)tcG>tcT p.S281S SLC16A7_ENST00000543448.1_Silent_p.S182S|SLC16A7_ENST00000552024.1_Silent_p.S281S|SLC16A7_ENST00000547379.1_Silent_p.S281S|SLC16A7_ENST00000552432.1_Silent_p.S281S NM_004731.4 NP_004722.2 O60669 MOT2_HUMAN solute carrier family 16 (monocarboxylate transporter), member 7 281 integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1) 30 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) ATGAGTACTCGGCAGCTTTTC 0.383000 10 134 1.76689e-08 1.93517e-08 1 1 0 LCN12 286256 broad.mit.edu 37 9 139847415 139847415 + Silent SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr9:139847415C>T ENST00000371633.3 + 2 186 c.186C>T c.(184-186)aaC>aaT p.N62N NM_178536.3 NP_848631.2 Q6JVE5 LCN12_HUMAN lipocalin 12 62 lipid metabolic process extracellular region binding|transporter activity endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106) CGCTGCTGAACGCTTTCACCG 0.627000 19 85 0 0 1 0 0 LILRA3 11026 broad.mit.edu 37 19 54803223 54803223 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr19:54803223C>T ENST00000391745.1 - 8 821 c.505G>A c.(505-507)Gat>Aat p.D169N LILRA3_ENST00000251390.3_Missense_Mutation_p.D152N|LILRA3_ENST00000391744.3_Missense_Mutation_p.D152N leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ATGAAGCCATCAAATGCCACC 0.567000 11 59 0 0 1 0 0 CHIA 27159 broad.mit.edu 37 1 111857942 111857942 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:111857942C>T ENST00000369740.1 + 6 468 c.365C>T c.(364-366)tCa>tTa p.S122L CHIA_ENST00000430615.1_Missense_Mutation_p.S14L|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000451398.2_5'UTR|CHIA_ENST00000353665.6_Intron|CHIA_ENST00000343320.6_Missense_Mutation_p.S122L NM_001258001.1|NM_201653.3 NP_001244930.1|NP_970615.2 Q9BZP6 CHIA_HUMAN chitinase, acidic 122 apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) TTCATCACCTCAGTCATCAAA 0.547000 17 84 0 0 1 0 0 IL27RA 9466 broad.mit.edu 37 19 14150583 14150583 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr19:14150583G>A ENST00000263379.2 + 4 520 c.395G>A c.(394-396)cGg>cAg p.R132Q NM_004843.3 NP_004834.1 Q6UWB1 I27RA_HUMAN interleukin 27 receptor, alpha 132 cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 26 AACGCCCCCCGGCTGGGCCCT 0.627000 10 56 0 0 1 0 0 OR9Q2 219957 broad.mit.edu 37 11 57958200 57958200 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr11:57958200C>G ENST00000311591.3 + 1 295 c.238C>G c.(238-240)Cag>Gag p.Q80E NM_001005283.2 NP_001005283.1 Q8NGE9 OR9Q2_HUMAN olfactory receptor, family 9, subfamily Q, member 2 80 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Breast(21;0.0589) CATCATCCCTCAGATGCTGGC 0.582000 5 47 0 0 1 0 0 CXorf36 79742 broad.mit.edu 37 X 45051120 45051120 + Nonsense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chrX:45051120G>C ENST00000398000.2 - 2 448 c.374C>G c.(373-375)tCa>tGa p.S125* CXorf36_ENST00000377934.4_Nonsense_Mutation_p.S125*|RP11-342D14.1_ENST00000438181.1_RNA|CXorf36_ENST00000477281.1_5'UTR|RP11-342D14.1_ENST00000450527.1_RNA NM_176819.3 NP_789789.2 Q9H7Y0 CX036_HUMAN chromosome X open reading frame 36 125 extracellular region endometrium(1)|large_intestine(2)|lung(4) 7 TCTCCTGTCTGAGATCTCGTT 0.483000 11 70 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 70070975 70070975 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr6:70070975G>C ENST00000370598.1 + 29 4631 c.3810G>C c.(3808-3810)ttG>ttC p.L1270F BAI3_ENST00000546190.1_Missense_Mutation_p.L234F|BAI3_ENST00000238918.8_Missense_Mutation_p.L476F NM_001704.2 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1270 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) ATCCATGTTTGAAAAAAGAAA 0.403000 5 46 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11397296 11397296 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr5:11397296C>G ENST00000304623.8 - 6 648 c.459G>C c.(457-459)caG>caC p.Q153H CTNND2_ENST00000511377.1_Missense_Mutation_p.Q62H|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000359640.2_Missense_Mutation_p.Q153H|CTNND2_ENST00000458100.2_5'UTR NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 153 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 GAAGTGCACTCTGGGAGAGCA 0.507000 3 24 0 0 1 0 0 DHX38 9785 broad.mit.edu 37 16 72130728 72130728 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr16:72130728C>T ENST00000268482.3 + 3 840 c.331C>T c.(331-333)Cgg>Tgg p.R111W DHX38_ENST00000536867.1_Intron NM_014003.3 NP_054722.2 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 111 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 48 Ovarian(137;0.125) CAGACATTATCGGTCTGCTCG 0.537000 14 222 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12666697 12666697 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr17:12666697C>G ENST00000425538.1 + 14 2897 c.2697C>G c.(2695-2697)ttC>ttG p.F899L RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000343344.4_Missense_Mutation_p.F851L NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 851 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AAGACCTCTTCAATGCACATG 0.483000 4 34 0 0 1 0 0 FBLIM1 54751 broad.mit.edu 37 1 16101286 16101286 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:16101286C>G ENST00000375766.3 + 7 1525 c.885C>G c.(883-885)ttC>ttG p.F295L FBLIM1_ENST00000375771.1_Missense_Mutation_p.F295L|FBLIM1_ENST00000441801.2_Missense_Mutation_p.F295L|FBLIM1_ENST00000400773.1_Missense_Mutation_p.F198L|FBLIM1_ENST00000332305.5_Missense_Mutation_p.F198L NM_017556.2 NP_060026.2 Q8WUP2 FBLI1_HUMAN filamin binding LIM protein 1 295 LIM zinc-binding 2.|PLEKHC1-binding. cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle zinc ion binding large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 16 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138) TGGACGACTTCTACAGGTACG 0.622000 5 64 0 0 1 0 0 EMC4 51234 broad.mit.edu 37 15 34520658 34520658 + Silent SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr15:34520658G>A ENST00000267750.4 + 4 500 c.384G>A c.(382-384)caG>caA p.Q128Q EMC4_ENST00000559421.1_Intron|EMC4_ENST00000559078.1_Intron|EMC4_ENST00000249209.4_Intron|EMC4_ENST00000557879.1_3'UTR NM_016454.2 NP_057538.1 ER membrane protein complex subunit 4 GTTCAAGCCAGAAGTTTCTTC 0.428000 32 89 0 0 1 0 0 ZNF362 149076 broad.mit.edu 37 1 33764563 33764563 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:33764563C>G ENST00000539719.1 + 9 1349 c.1179C>G c.(1177-1179)caC>caG p.H393Q ZNF362_ENST00000373428.5_Missense_Mutation_p.H393Q NM_152493.2 NP_689706.2 Q5T0B9 ZN362_HUMAN zinc finger protein 362 393 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|large_intestine(4)|lung(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) TGTCCAAACACACGGTGGTGG 0.612000 OREG0013343 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 56 0 0 1 0 0 SLC23A2 9962 broad.mit.edu 37 20 4837816 4837816 + Silent SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr20:4837816C>T ENST00000379333.1 - 17 2147 c.1755G>A c.(1753-1755)aaG>aaA p.K585K SLC23A2_ENST00000338244.1_Silent_p.K585K|SLC23A2_ENST00000424750.2_Silent_p.K471K NM_203327.1 NP_976072.1 Q9UGH3 S23A2_HUMAN solute carrier family 23 (ascorbic acid transporter), member 2 585 L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 CCACACCCTTCTTCCATTTCC 0.433000 5 88 0 0 1 0 0 ZNF484 83744 broad.mit.edu 37 9 95609457 95609457 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr9:95609457G>A ENST00000395505.2 - 3 1596 c.1504C>T c.(1504-1506)Cgg>Tgg p.R502W ZNF484_ENST00000375495.3_Missense_Mutation_p.R538W|ZNF484_ENST00000332591.6_Missense_Mutation_p.R502W|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Missense_Mutation_p.R540W NM_001261459.1|NM_001261460.1 NP_001248388.1|NP_001248389.1 Q5JVG2 ZN484_HUMAN zinc finger protein 484 538 G -> D (in dbSNP:rs3739602). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2) 33 ATCCTGAGCCGAGACTTCCAG 0.398000 32 102 0 0 1 0 0 TRIM10 10107 broad.mit.edu 37 6 30121796 30121796 + Missense_Mutation SNP G G T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr6:30121796G>T ENST00000449742.2 - 7 1471 c.1396C>A c.(1396-1398)Ccc>Acc p.P466T TRIM10_ENST00000376704.3_Intron NM_006778.3 NP_006769.2 Q9UDY6 TRI10_HUMAN tripartite motif containing 10 466 B30.2/SPRY. cytoplasm zinc ion binding ovary(1) 1 CCAAAGAAGGGAATGACCTTC 0.547000 10 37 1.58986e-06 1.69846e-06 1 1 0 CYP2C18 1562 broad.mit.edu 37 10 96454792 96454792 + Missense_Mutation SNP A A T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr10:96454792A>T ENST00000285979.6 + 4 799 c.600A>T c.(598-600)aaA>aaT p.K200N CYP2C18_ENST00000339022.5_Missense_Mutation_p.K200N|CYP2C19_ENST00000464755.1_3'UTR NM_000772.2 NP_000763.1 cytochrome P450, family 2, subfamily C, polypeptide 18 NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 26 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) TGATGGAAAAATTCAATGAAA 0.388000 24 61 0 0 1 0 0 PABPC1 26986 broad.mit.edu 37 8 101717181 101717181 + Silent SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr8:101717181G>A ENST00000318607.5 - 13 2919 c.1791C>T c.(1789-1791)ctC>ctT p.L597L PABPC1_ENST00000519004.1_Silent_p.L552L|PABPC1_ENST00000522387.1_Silent_p.L565L NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 597 PABC. mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) CTGGAGACTCGAGCATATGAA 0.398000 9 386 0 0 1 0 0 PPP1R13B 23368 broad.mit.edu 37 14 104209113 104209113 + Missense_Mutation SNP C C A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr14:104209113C>A ENST00000202556.9 - 10 1480 c.1198G>T c.(1198-1200)Gtg>Ttg p.V400L PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_5'UTR NM_015316.2 NP_056131.2 Q96KQ4 ASPP1_HUMAN protein phosphatase 1, regulatory subunit 13B 400 apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) ACTGGTTTCACGGAAGAGCTA 0.493000 10 91 6.40141e-05 6.8015e-05 1 1 0 TRAV26-1 28657 broad.mit.edu 37 14 22592096 22592096 + RNA SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr14:22592096C>T ENST00000390455.3 + 0 390 CTCCCAGGGGCCACAGTATAT 0.453000 4 45 0 0 1 0 0 KIAA0513 9764 broad.mit.edu 37 16 85112027 85112027 + Silent SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr16:85112027C>T ENST00000566428.1 + 7 1420 c.789C>T c.(787-789)gaC>gaT p.D263D KIAA0513_ENST00000538274.1_Silent_p.D263D|KIAA0513_ENST00000567328.1_Silent_p.D263D|KIAA0513_ENST00000258180.3_Silent_p.D263D O60268 K0513_HUMAN KIAA0513 263 cytoplasm breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.234) TCAGGGAAGACGAGAACAAAC 0.592000 4 12 0 0 1 0 0 TEX2 55852 broad.mit.edu 37 17 62290563 62290563 + Nonsense_Mutation SNP C C A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr17:62290563C>A ENST00000258991.3 - 2 1099 c.1015G>T c.(1015-1017)Gaa>Taa p.E339* TEX2_ENST00000584379.1_Nonsense_Mutation_p.E339*|TEX2_ENST00000583097.1_Nonsense_Mutation_p.E339* Q8IWB9 TEX2_HUMAN testis expressed 2 339 signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) TTATTGCTTTCCAAGTGCCCA 0.473000 5 72 0.000602214 0.000627909 1 1 0 SRSF6 6431 broad.mit.edu 37 20 42088732 42088732 + Silent SNP T T C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr20:42088732T>C ENST00000244020.3 + 4 547 c.441T>C c.(439-441)aaT>aaC p.N147N NM_006275.5 NP_006266.2 Q13247 SRSF6_HUMAN serine/arginine-rich splicing factor 6 147 RRM 2. mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2) 5 AACGAACAAATGAGGGTGTAA 0.418000 3 58 0 0 1 0 0 OFD1 8481 broad.mit.edu 37 X 13753386 13753386 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chrX:13753386C>T ENST00000340096.6 + 2 359 c.32C>T c.(31-33)gCt>gTt p.A11V OFD1_ENST00000380567.1_5'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.A11V|OFD1_ENST00000398395.3_Missense_Mutation_p.A11V|OFD1_ENST00000490265.1_3'UTR NM_003611.2 NP_003602.1 O75665 OFD1_HUMAN oral-facial-digital syndrome 1 11 cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 25 TTTACCGTGGCTGATGTGTTG 0.473000 11 64 0 0 1 0 0 MED12 9968 broad.mit.edu 37 X 70338695 70338695 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chrX:70338695C>G ENST00000333646.6 + 1 290 c.91C>G c.(91-93)Cag>Gag p.Q31E MED12_ENST00000374080.3_Missense_Mutation_p.Q31E|MED12_ENST00000374102.1_Missense_Mutation_p.Q31E NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 31 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) GGACCCCAAACAGAAGGAGGT 0.682000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 3 18 0 0 1 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58563938 58563938 + Silent SNP C C A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr19:58563938C>A ENST00000282326.1 + 5 793 c.546C>A c.(544-546)ctC>ctA p.L182L NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 182 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CTACCCAGCTCCAGCAGAGTC 0.617000 9 39 3.09899e-07 3.34725e-07 1 1 0 RGS22 26166 broad.mit.edu 37 8 101014456 101014456 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr8:101014456G>C ENST00000360863.6 - 18 2958 c.2764C>G c.(2764-2766)Cca>Gca p.P922A RGS22_ENST00000523437.1_Missense_Mutation_p.P910A|RGS22_ENST00000523287.1_Missense_Mutation_p.P741A NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 922 RGS 1. 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) AGAGAAGCTGGACTGTTGGGT 0.323000 10 567 0 0 1 0 0 CLIC5 53405 broad.mit.edu 37 6 45870848 45870848 + Missense_Mutation SNP C C T rs147645217 TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr6:45870848C>T ENST00000185206.6 - 6 1362 c.1210G>A c.(1210-1212)Gcc>Acc p.A404T CLIC5_ENST00000339561.6_Missense_Mutation_p.A245T NM_001114086.1 NP_001107558.1 Q9NZA1 CLIC5_HUMAN chloride intracellular channel 5 404 female pregnancy actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center protein binding|voltage-gated chloride channel activity endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 13 AGGCGTTTGGCGACATCAGCG 0.572000 3 26 0 0 1 0 0 UBL4A 8266 broad.mit.edu 37 X 153714142 153714142 + Missense_Mutation SNP C C A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chrX:153714142C>A ENST00000369660.4 - 3 416 c.331G>T c.(331-333)Gat>Tat p.D111Y UBL4A_ENST00000369653.4_Missense_Mutation_p.D111Y|UBL4A_ENST00000477777.1_5'UTR NM_014235.3 NP_055050.1 P11441 UBL4A_HUMAN ubiquitin-like 4A 111 protein modification process|tail-anchored membrane protein insertion into ER membrane|transport BAT3 complex small conjugating protein ligase activity endometrium(5)|lung(1)|urinary_tract(1) 7 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CTGCTGGCATCTGCCGCACTG 0.627000 26 89 5.77227e-19 6.54191e-19 1 1 0 PCDHA13 56136 broad.mit.edu 37 5 140263026 140263026 + Silent SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr5:140263026G>A ENST00000289272.2 + 1 1173 c.1173G>A c.(1171-1173)ccG>ccA p.P391P PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.P391P|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 p.P391P(4) NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTTGACGCCGCATGTCCCCT 0.547000 4 139 0 0 1 0 0 SH2D1B 117157 broad.mit.edu 37 1 162368817 162368817 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:162368817C>G ENST00000367929.2 - 3 368 c.259G>C c.(259-261)Gaa>Caa p.E87Q SH2D1B_ENST00000359567.3_Intron NM_053282.4 NP_444512.2 O14796 SH21B_HUMAN SH2 domain containing 1B 87 SH2. kidney(1)|large_intestine(1)|lung(4)|pancreas(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) TTTGGTTTTTCAAATTTGGAG 0.398000 13 174 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105412943 105412943 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr14:105412943C>T ENST00000333244.5 - 7 8964 c.8845G>A c.(8845-8847)Gag>Aag p.E2949K AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2949 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) CTCGGGGCCTCGACGTCCACC 0.627000 20 223 0 0 1 0 0 MFI2 4241 broad.mit.edu 37 3 196749847 196749847 + Missense_Mutation SNP C C T rs147201042 byFrequency TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr3:196749847C>T ENST00000296350.5 - 5 738 c.625G>A c.(625-627)Gac>Aac p.D209N MFI2_ENST00000296351.4_Missense_Mutation_p.D209N NM_005929.5 NP_005920.2 P08582 TRFM_HUMAN antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 209 Transferrin-like 1. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1) 20 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) CCGCTGTAGTCGTAGTATCTC 0.632000 4 65 0 0 1 0 0 IGHG3 3502 broad.mit.edu 37 14 106237688 106237688 + RNA SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr14:106237688G>A ENST00000390551.2 - 0 54 TGTGCCCCCAGAGGTGCTCCT 0.667000 4 21 0 0 1 0 0 ZBTB8A 653121 broad.mit.edu 37 1 33058612 33058612 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:33058612G>A ENST00000373510.4 + 3 309 c.80G>A c.(79-81)aGt>aAt p.S27N RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Missense_Mutation_p.S27N NM_001040441.1 NP_001035531.1 Q96BR9 ZBT8A_HUMAN zinc finger and BTB domain containing 8A 27 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(2)|large_intestine(2)|lung(2)|prostate(1) 7 TGTGACTGCAGTATTCTAGTT 0.433000 8 66 0 0 1 0 0 FAM101B 359845 broad.mit.edu 37 17 293246 293246 + Missense_Mutation SNP G G T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr17:293246G>T ENST00000329099.4 - 2 143 c.144C>A c.(142-144)ttC>ttA p.F48L NM_182705.2 NP_874364.1 Q8N5W9 F101B_HUMAN family with sequence similarity 101, member B 118 Poly-Gly. breast(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)|urinary_tract(1) 13 Myeloproliferative disorder(207;0.204) UCEC - Uterine corpus endometrioid carcinoma (25;0.0216) CGTCGTCGATGAAGTGCCTCT 0.662000 4 39 1 1 1 1 0 IKBKE 9641 broad.mit.edu 37 1 206651598 206651598 + Missense_Mutation SNP G G T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:206651598G>T ENST00000367120.3 + 9 1281 c.908G>T c.(907-909)aGt>aTt p.S303I IKBKE_ENST00000537984.1_Missense_Mutation_p.S218I NM_001193322.1|NM_014002.3 NP_001180251.1|NP_054721.1 Q14164 IKKE_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon 303 Protein kinase. DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane|PML body ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2) 32 Breast(84;0.137) GCGGAGACCAGTGACATCCTG 0.612000 4 53 0.00024832 0.000262414 1 1 0 AP2M1 1173 broad.mit.edu 37 3 183901286 183901286 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr3:183901286C>G ENST00000382456.3 + 11 1498 c.1184C>G c.(1183-1185)tCt>tGt p.S395C EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000411763.2_Missense_Mutation_p.S422C|AP2M1_ENST00000292807.5_Missense_Mutation_p.S397C|AP2M1_ENST00000439647.1_Missense_Mutation_p.S395C|AP2M1_ENST00000461733.1_3'UTR NM_001025205.1 NP_001020376.1 Q96CW1 AP2M1_HUMAN adaptor-related protein complex 2, mu 1 subunit 397 MHD. axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane lipid binding|protein binding|transporter activity endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 18 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TTCGCGCCCTCTGGCCTCAAG 0.557000 5 41 0 0 1 0 0 LRRFIP1 9208 broad.mit.edu 37 2 238664806 238664806 + Silent SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr2:238664806G>A ENST00000244815.5 + 8 891 c.651G>A c.(649-651)ctG>ctA p.L217L LRRFIP1_ENST00000392000.4_Silent_p.L241L|LRRFIP1_ENST00000289175.6_Silent_p.L185L|LRRFIP1_ENST00000308482.9_Silent_p.L369L NM_004735.3 NP_004726.2 Q32MZ4 LRRF1_HUMAN leucine rich repeat (in FLII) interacting protein 1 241 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|cytoskeleton|nucleus DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 29 Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228) AGGAGGCCCTGAAGCAAAGAG 0.428000 3 52 0 0 1 0 0 SLC25A1 6576 broad.mit.edu 37 22 19163736 19163736 + Silent SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr22:19163736G>A ENST00000215882.5 - 9 999 c.843C>T c.(841-843)ccC>ccT p.P281P SLC25A1_ENST00000451283.1_Silent_p.P178P NM_005984.3 NP_005975.1 P53007 TXTP_HUMAN solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 281 gluconeogenesis|long-chain fatty-acyl-CoA biosynthetic process|mitochondrial citrate transport|triglyceride biosynthetic process integral to membrane|mitochondrial inner membrane citrate transmembrane transporter activity|protein binding cervix(1)|lung(1) 2 Colorectal(54;0.0993) all_lung(157;9.94e-09) Lung(27;0.124) GGCCCAGGCGGGGGACAGTGC 0.572000 4 61 0 0 1 0 0 TCF25 22980 broad.mit.edu 37 16 89965049 89965049 + Silent SNP C C A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr16:89965049C>A ENST00000263346.8 + 10 1163 c.1107C>A c.(1105-1107)ctC>ctA p.L369L TCF25_ENST00000263347.7_Silent_p.L134L NM_014972.2 NP_055787.1 Q9BQ70 TCF25_HUMAN transcription factor 25 (basic helix-loop-helix) 369 heart development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2) 18 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) ACTGCAAGCTCATCCTGAGGT 0.607000 13 56 1.5842e-08 1.73995e-08 1 1 0 PHYHD1 254295 broad.mit.edu 37 9 131702737 131702737 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr9:131702737G>C ENST00000372592.3 + 10 1480 c.547G>C c.(547-549)Gag>Cag p.E183Q PHYHD1_ENST00000487504.1_3'UTR|PHYHD1_ENST00000308941.5_Missense_Mutation_p.W175C|PHYHD1_ENST00000421063.2_Missense_Mutation_p.E162Q|PHYHD1_ENST00000353176.5_Missense_Mutation_p.E162Q NM_001100876.1 NP_001094346.1 phytanoyl-CoA dioxygenase domain containing 1 central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3) 10 TGCCACGCTGGAGAACGGCTG 0.642000 7 48 0 0 1 0 0 CPT1A 1374 broad.mit.edu 37 11 68527753 68527753 + Silent SNP C C A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr11:68527753C>A ENST00000265641.5 - 17 2236 c.2082G>T c.(2080-2082)gtG>gtT p.V694V CPT1A_ENST00000376618.2_Silent_p.V694V|CPT1A_ENST00000540367.1_Silent_p.V694V|CPT1A_ENST00000539743.1_Silent_p.V694V NM_001876.3 NP_001867.2 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A (liver) 694 carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) CAAACAGCTCCACTTGCTGCT 0.562000 37 187 2.59497e-14 2.91561e-14 1 1 0 ZNF197 10168 broad.mit.edu 37 3 44684309 44684309 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr3:44684309G>C ENST00000396058.1 + 5 1854 c.1687G>C c.(1687-1689)Gag>Cag p.E563Q RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000344387.4_Missense_Mutation_p.E563Q|ZNF197_ENST00000383744.4_Intron O14709 ZN197_HUMAN zinc finger protein 197 563 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) CCACAGTGCAGAGAACCCTTA 0.418000 7 116 0 0 1 0 0 MYEOV 26579 broad.mit.edu 37 11 69062897 69062897 + Nonsense_Mutation SNP G G T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr11:69062897G>T ENST00000308946.3 + 2 526 c.76G>T c.(76-78)Gaa>Taa p.E26* MYEOV_ENST00000535407.1_5'UTR|MYEOV_ENST00000441339.2_Nonsense_Mutation_p.E26* NM_138768.2 NP_620123.2 Q96EZ4 MYEOV_HUMAN myeloma overexpressed 26 endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1) 24 all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128) LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713) Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153) cctctgcctggaacagtctcc 0.592000 8 835 0.0381472 0.0385415 1 1 0 FASTKD5 60493 broad.mit.edu 37 20 3127577 3127577 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr20:3127577G>C ENST00000380266.3 - 2 2461 c.2140C>G c.(2140-2142)Ctc>Gtc p.L714V UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron NM_021826.4 NP_068598.1 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 714 RAP. apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2) 19 AGTCCAAGGAGATCCCTGGAG 0.552000 13 109 0 0 1 0 0 DCAF8 50717 broad.mit.edu 37 1 160209785 160209785 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:160209785G>A ENST00000368073.3 - 4 859 c.425C>T c.(424-426)tCa>tTa p.S142L DCAF8_ENST00000610139.1_Missense_Mutation_p.S142L|DCAF8_ENST00000326837.2_Missense_Mutation_p.S142L|DCAF8_ENST00000556710.1_Missense_Mutation_p.S296L|DCAF8_ENST00000368074.1_Missense_Mutation_p.S142L|DCAF8_ENST00000475733.1_Missense_Mutation_p.S142L|DCAF8_ENST00000608310.1_Missense_Mutation_p.S296L Q5TAQ9 DCAF8_HUMAN DDB1 and CUL4 associated factor 8 142 CUL4 RING ubiquitin ligase complex protein binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1) 33 TGATGTTTCTGAGGACACCCA 0.627000 9 42 0 0 1 0 0 NXF4 55999 broad.mit.edu 37 X 101818925 101818925 + RNA SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chrX:101818925G>A ENST00000360035.2 + 0 1209 NR_002216.1 endometrium(2)|lung(8) 10 GCTATGGCTGGAAGGGAACTC 0.557000 8 59 0 0 1 0 0 CHIT1 1118 broad.mit.edu 37 1 203194885 203194885 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:203194885C>T ENST00000367229.1 - 3 203 c.169G>A c.(169-171)Gcc>Acc p.A57T CHIT1_ENST00000535569.1_Missense_Mutation_p.A67T|CHIT1_ENST00000255427.3_Missense_Mutation_p.A57T|CHIT1_ENST00000484834.1_5'UTR NM_001270509.1|NM_003465.2 NP_001257438.1|NP_003456.1 Q13231 CHIT1_HUMAN chitinase 1 (chitotriosidase) 57 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2) 27 CCAGCGAAGGCGTAGATGAGG 0.572000 3 30 0 0 1 0 0 ITLN2 142683 broad.mit.edu 37 1 160920349 160920349 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:160920349G>C ENST00000368029.3 - 5 651 c.594C>G c.(592-594)atC>atG p.I198M ITLN2_ENST00000494442.1_5'UTR NM_080878.2 NP_543154.1 Q8WWU7 ITLN2_HUMAN intelectin 2 198 Fibrinogen C-terminal. signal transduction extracellular region receptor binding|sugar binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 19 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GTACCTGGTAGATGCCAAACA 0.557000 7 213 0 0 1 0 0 NGFRAP1 27018 broad.mit.edu 37 X 102632603 102632603 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chrX:102632603G>A ENST00000361298.4 + 3 519 c.154G>A c.(154-156)Gga>Aga p.G52R NGFRAP1_ENST00000372634.1_Missense_Mutation_p.G52R|NGFRAP1_ENST00000372635.1_Missense_Mutation_p.G62R|NGFRAP1_ENST00000372645.3_Missense_Mutation_p.G62R|NGFRAP1_ENST00000299872.7_Missense_Mutation_p.G62R NM_206915.1|NM_206917.1 NP_996798.1|NP_996800.1 Q00994 BEX3_HUMAN nerve growth factor receptor (TNFRSF16) associated protein 1 62 apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway cytosol|nucleus caspase regulator activity|metal ion binding NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1) 10 TGGGATGGGTGGAGATGGAGA 0.498000 10 377 0 0 1 0 0 PCDHGB4 8641 broad.mit.edu 37 5 140768264 140768264 + Silent SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr5:140768264G>A ENST00000519479.1 + 1 813 c.813G>A c.(811-813)gaG>gaA p.E271E PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron NM_003736.2|NM_018925.2|NM_032098.1 NP_003727.1|NP_061748.1|NP_115269.1 endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2) 37 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCAGGATGAGGGTGTCAATG 0.483000 5 71 0 0 1 0 0 LOC653786 653786 broad.mit.edu 37 16 22588015 22588015 + RNA SNP A A G rs460493 by1000genomes TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr16:22588015A>G ENST00000550753.1 + 0 2490 NR_003676.2 TGGCCTGAGCACATCGTCCTG 0.557000 4 50 0 0 1 0 0 PPIG 9360 broad.mit.edu 37 2 170493734 170493734 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr2:170493734G>C ENST00000260970.3 + 14 2186 c.1966G>C c.(1966-1968)Gaa>Caa p.E656Q PPIG_ENST00000409714.3_Missense_Mutation_p.E641Q|PPIG_ENST00000448752.2_Missense_Mutation_p.E656Q NM_004792.2 NP_004783.2 Q13427 PPIG_HUMAN peptidylprolyl isomerase G (cyclophilin G) 656 protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1) 43 L-Proline(DB00172) ACACAGAAAAGAAAATTCTGA 0.393000 7 46 0 0 1 0 0 KDM4B 23030 broad.mit.edu 37 19 5071030 5071030 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr19:5071030C>G ENST00000159111.4 + 7 854 c.636C>G c.(634-636)atC>atG p.I212M KDM4B_ENST00000536461.1_Missense_Mutation_p.I212M|KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000381759.4_Missense_Mutation_p.I212M NM_015015.2 NP_055830 O94953 KDM4B_HUMAN lysine (K)-specific demethylase 4B 212 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 GGTACGCCATCCCACCAGAGC 0.692000 3 19 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126412188 126412188 + Silent SNP C C A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr4:126412188C>A ENST00000394329.3 + 17 14224 c.14211C>A c.(14209-14211)acC>acA p.T4737T FAT4_ENST00000335110.5_Silent_p.T2978T NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4737 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ATGGTGACACCTGCCAACCTG 0.483000 11 52 2.80697e-09 3.10914e-09 1 1 0 IL21 59067 broad.mit.edu 37 4 123534024 123534024 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr4:123534024G>C ENST00000264497.3 - 4 477 c.420C>G c.(418-420)ttC>ttG p.F140L NM_001207006.2|NM_021803.3 NP_001193935.1|NP_068575.1 Q9HBE4 IL21_HUMAN interleukin 21 133 cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction extracellular space cytokine activity|interleukin-2 receptor binding NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3) 8 GAAGTGATTTGAATCTTTCTA 0.313000 5 28 0 0 1 0 0 CLIP3 25999 broad.mit.edu 37 19 36515504 36515504 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr19:36515504C>T ENST00000360535.4 - 7 939 c.712G>A c.(712-714)Gtc>Atc p.V238I CLIP3_ENST00000593074.1_Missense_Mutation_p.V238I|AC002116.7_ENST00000586962.1_RNA NM_015526.2 NP_056341.1 Q96DZ5 CLIP3_HUMAN CAP-GLY domain containing linker protein 3 238 chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane ganglioside binding|microtubule binding cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 23 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GGATCTGGGACCACCTCCGCC 0.627000 9 36 0 0 1 0 0 SYCP2 10388 broad.mit.edu 37 20 58489040 58489040 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr20:58489040C>T ENST00000357552.3 - 12 1045 c.820G>A c.(820-822)Gac>Aac p.D274N SYCP2_ENST00000371001.2_Missense_Mutation_p.D274N Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 274 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) CTTCTTTTGTCTCCAAGCATG 0.294000 11 35 0 0 1 0 0 NRK 203447 broad.mit.edu 37 X 105159728 105159728 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chrX:105159728G>C ENST00000428173.2 + 15 2662 c.2359G>C c.(2359-2361)Gag>Cag p.E787Q NRK_ENST00000243300.9_Missense_Mutation_p.E786Q Q7Z2Y5 NRK_HUMAN Nik related kinase 786 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 TAAGGTTCAAGAGAGATCTCC 0.328000 HNSCC(51;0.14) 7 71 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8665949 8665949 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr19:8665949C>G ENST00000270328.4 - 5 939 c.673G>C c.(673-675)Gag>Cag p.E225Q ADAMTS10_ENST00000597188.1_Missense_Mutation_p.E225Q|ADAMTS10_ENST00000596709.1_5'UTR Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 225 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 TGGCCACGCTCTGTTTCATTC 0.642000 3 45 0 0 1 0 0 E2F4 1874 broad.mit.edu 37 16 67232012 67232012 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr16:67232012G>C ENST00000379378.3 + 10 1287 c.1228G>C c.(1228-1230)Gtt>Ctt p.V410L NM_001950.3 NP_001941.2 Q16254 E2F4_HUMAN E2F transcription factor 4, p107/p130-binding 410 Transactivation (Potential). G1 phase of mitotic cell cycle transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2) 11 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325) TGATGTGCCTGTTCTCAACCT 0.582000 OREG0023875 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 108 0 0 1 0 0 GOT1L1 137362 broad.mit.edu 37 8 37797455 37797455 + Missense_Mutation SNP G G T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr8:37797455G>T ENST00000307599.4 - 1 192 c.93C>A c.(91-93)aaC>aaA p.N31K NM_152413.2 NP_689626.2 Q8NHS2 AATC2_HUMAN glutamic-oxaloacetic transaminase 1-like 1 31 biosynthetic process|cellular amino acid metabolic process cytoplasm pyridoxal phosphate binding|transaminase activity central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1) 14 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;1.37e-11) AGAATATCTTGTTCGGGTAAT 0.463000 3 16 0.115264 0.115857 1 1 0 GOLGB1 2804 broad.mit.edu 37 3 121395812 121395812 + Silent SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr3:121395812G>C ENST00000393667.3 - 17 9215 c.9105C>G c.(9103-9105)ctC>ctG p.L3035L GOLGB1_ENST00000340645.5_Silent_p.L3030L NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 3030 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) GCTGGGTCCTGAGAAGTTCTG 0.438000 4 49 0 0 1 0 0 TET3 200424 broad.mit.edu 37 2 74328835 74328835 + Silent SNP G G T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr2:74328835G>T ENST00000409262.3 + 9 4515 c.4515G>T c.(4513-4515)tcG>tcT p.S1505S NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 1505 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 AGCTGTGGTCGGACAGTGAAC 0.687000 8 71 0.00307968 0.00317719 1 1 0 KHDRBS1 10657 broad.mit.edu 37 1 32498934 32498934 + Splice_Site SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:32498934C>T ENST00000327300.7 + 4 937 c.770C>T c.(769-771)cCg>cTg p.P257L KHDRBS1_ENST00000307714.8_3'UTR|KHDRBS1_ENST00000492989.1_Splice_Site_p.P218L NM_006559.1 NP_006550.1 Q07666 KHDR1_HUMAN KH domain containing, RNA binding, signal transduction associated 1 257 cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent membrane|nucleus DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 14 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TTTCTAGTACCGGTAAGGAAA 0.433000 8 79 0 0 1 0 0 UNC5D 137970 broad.mit.edu 37 8 35453089 35453089 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr8:35453089G>C ENST00000287272.2 + 4 504 c.484G>C c.(484-486)Gaa>Caa p.E162Q UNC5D_ENST00000420357.1_Missense_Mutation_p.E162Q|UNC5D_ENST00000416672.1_Missense_Mutation_p.E162Q|UNC5D_ENST00000453357.2_Missense_Mutation_p.E157Q|UNC5D_ENST00000404895.2_Missense_Mutation_p.E162Q Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 162 Ig-like C2-type. 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) GAAAAACTTTGAACAAGACCC 0.453000 14 83 0 0 1 0 0 PPIL6 285755 broad.mit.edu 37 6 109714030 109714030 + Nonstop_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr6:109714030C>G ENST00000521072.2 - 8 1515 c.935G>C c.(934-936)tGa>tCa p.*312S PPIL6_ENST00000440797.2_Nonstop_Mutation_p.*338S|PPIL6_ENST00000424445.2_Nonstop_Mutation_p.*280S NM_173672.4 NP_775943.1 Q8IXY8 PPIL6_HUMAN peptidylprolyl isomerase (cyclophilin)-like 6 0 protein folding peptidyl-prolyl cis-trans isomerase activity large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548) Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259) ATATGAAAATCAAGCATAAGG 0.294000 6 44 0 0 1 0 0 CDKAL1 54901 broad.mit.edu 37 6 21231200 21231200 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr6:21231200C>T ENST00000274695.4 + 16 1837 c.1670C>T c.(1669-1671)gCg>gTg p.A557V CDKAL1_ENST00000476517.1_3'UTR|CDKAL1_ENST00000378610.1_Missense_Mutation_p.A557V|CDKAL1_ENST00000378624.4_Missense_Mutation_p.A466V NM_017774.3 NP_060244.2 Q5VV42 CDKAL_HUMAN CDK5 regulatory subunit associated protein 1-like 1 557 RNA modification integral to membrane 4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1) 29 all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227) OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248) CAAGACTGTGCGCTGAGGATG 0.468000 7 37 0 0 1 0 0 ZNF780B 163131 broad.mit.edu 37 19 40541682 40541682 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr19:40541682C>G ENST00000434248.1 - 5 1149 c.1084G>C c.(1084-1086)Gaa>Caa p.E362Q ZNF780B_ENST00000221355.6_Missense_Mutation_p.E214Q NM_001005851.2 NP_001005851.1 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 362 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TCCCTGCATTCAAAGGGCTTC 0.418000 6 105 0 0 1 0 0 PLCG2 5336 broad.mit.edu 37 16 81929465 81929465 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr16:81929465C>G ENST00000359376.3 + 13 1340 c.1126C>G c.(1126-1128)Cgg>Ggg p.R376G NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 376 PI-PLC X-box. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 TGGCTGGACGCGGACTACCAA 0.562000 4 88 0 0 1 0 0 UBA5 79876 broad.mit.edu 37 3 132394685 132394685 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr3:132394685C>T ENST00000356232.4 + 11 2121 c.1049C>T c.(1048-1050)tCa>tTa p.S350L UBA5_ENST00000494238.2_Missense_Mutation_p.S294L|UBA5_ENST00000473651.1_Intron|UBA5_ENST00000493720.2_Missense_Mutation_p.S350L|UBA5_ENST00000264991.4_Missense_Mutation_p.S294L NM_024818.3 NP_079094.1 Q9GZZ9 UBA5_HUMAN ubiquitin-like modifier activating enzyme 5 350 protein ufmylation aggresome|cytoplasm|nucleus ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 TCTGAGGTTTCAGAAGAGGAA 0.308000 3 24 0 0 1 0 0 ZBTB41 360023 broad.mit.edu 37 1 197128764 197128764 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:197128764C>T ENST00000367405.4 - 10 2523 c.2455G>A c.(2455-2457)Gac>Aac p.D819N ZBTB41_ENST00000467322.1_5'UTR NM_194314.2 NP_919290.2 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 819 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 40 CTCGGAGTGTCAGGCATCTGA 0.488000 24 45 0 0 1 0 0 KDM5B 10765 broad.mit.edu 37 1 202711820 202711820 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:202711820C>G ENST00000367265.3 - 17 3601 c.2437G>C c.(2437-2439)Gtt>Ctt p.V813L KDM5B_ENST00000367264.2_Missense_Mutation_p.V849L NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 813 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 TGCTGCGCAACAGAGGCACAC 0.448000 11 92 0 0 1 0 0 ZNF582 147948 broad.mit.edu 37 19 56896194 56896194 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr19:56896194G>A ENST00000301310.4 - 5 750 c.592C>T c.(592-594)Ccc>Tcc p.P198S ZNF582_ENST00000586929.1_Missense_Mutation_p.P198S NM_144690.1 NP_653291.1 Q96NG8 ZN582_HUMAN zinc finger protein 582 198 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0547) CATTTATAGGGTTTCTCATTA 0.323000 5 70 0 0 1 0 0 PRC1 9055 broad.mit.edu 37 15 91537642 91537642 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr15:91537642C>G ENST00000361188.5 - 1 1217 c.6G>C c.(4-6)agG>agC p.R2S PRC1_ENST00000361919.3_Missense_Mutation_p.R2S|PRC1_ENST00000394249.3_Missense_Mutation_p.R2S|PRC1_ENST00000442656.2_Missense_Mutation_p.R2S|PRC1_ENST00000556129.1_5'UTR O43663 PRC1_HUMAN protein regulator of cytokinesis 1 2 Dimerization. cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2) 25 Lung NSC(78;0.0987)|all_lung(78;0.175) CGCACCTTCTCCTCATGGCGG 0.682000 8 42 0 0 1 0 0 FRMD7 90167 broad.mit.edu 37 X 131212726 131212726 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chrX:131212726C>T ENST00000298542.4 - 12 1494 c.1319G>A c.(1318-1320)aGg>aAg p.R440K FRMD7_ENST00000370879.1_Missense_Mutation_p.R320K|FRMD7_ENST00000464296.1_Missense_Mutation_p.R425K NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 440 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) TAGAGAACTCCTCTCTGAAAA 0.438000 23 102 0 0 1 0 0 SH3KBP1 30011 broad.mit.edu 37 X 19554542 19554542 + Nonsense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chrX:19554542G>C ENST00000397821.3 - 18 2281 c.1991C>G c.(1990-1992)tCa>tGa p.S664* SH3KBP1_ENST00000379716.1_Nonsense_Mutation_p.S426*|SH3KBP1_ENST00000541422.1_Nonsense_Mutation_p.S403*|SH3KBP1_ENST00000379698.4_Nonsense_Mutation_p.S627* NM_031892.2 NP_114098.1 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 664 apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4) 29 TATTCATTTTGATTGTAGAGC 0.338000 17 78 0 0 1 0 0 ZNF654 55279 broad.mit.edu 37 3 88189890 88189890 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr3:88189890C>T ENST00000309495.5 + 1 1637 c.1430C>T c.(1429-1431)tCt>tTt p.S477F CGGBP1_ENST00000462901.1_Intron NM_018293.2 NP_060763.2 Q8IZM8 ZN654_HUMAN zinc finger protein 654 477 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3) 12 Lung NSC(201;0.0283) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) TTGCCAGTATCTCAGGCACCT 0.403000 13 102 0 0 1 0 0 KLHL6 89857 broad.mit.edu 37 3 183226087 183226087 + Missense_Mutation SNP C C A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr3:183226087C>A ENST00000341319.3 - 3 704 c.669G>T c.(667-669)aaG>aaT p.K223N NM_130446.2 NP_569713.2 Q8WZ60 KLHL6_HUMAN kelch-like family member 6 223 BACK. breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) ggtcatcactcttcaagatgt 0.502000 5 65 5.9392e-07 6.39732e-07 1 1 0 RGS3 5998 broad.mit.edu 37 9 116299150 116299150 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr9:116299150G>C ENST00000374140.2 + 20 2198 c.1989G>C c.(1987-1989)gaG>gaC p.E663D RGS3_ENST00000343817.5_Missense_Mutation_p.E382D|RGS3_ENST00000317613.6_Missense_Mutation_p.E551D|RGS3_ENST00000462143.1_5'UTR|RGS3_ENST00000350696.5_Missense_Mutation_p.E663D|RGS3_ENST00000394646.3_Missense_Mutation_p.E382D|RGS3_ENST00000374136.1_Missense_Mutation_p.E289D NM_001282923.1|NM_144488.4 NP_001269852.1|NP_652759.3 P49796 RGS3_HUMAN regulator of G-protein signaling 3 663 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 GCCTGTCGGAGAACATCGCCA 0.572000 16 33 0 0 1 0 0 B4GALNT1 2583 broad.mit.edu 37 12 58020596 58020596 + Silent SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr12:58020596G>A ENST00000341156.4 - 11 2117 c.1533C>T c.(1531-1533)gaC>gaT p.D511D B4GALNT1_ENST00000418555.2_Silent_p.D456D NM_001478.3 NP_001469.1 Q00973 B4GN1_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 1 511 lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1) 20 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) TCTGGCTCTCGTCCAGTGATC 0.577000 8 115 0 0 1 0 0 MYEOV 26579 broad.mit.edu 37 11 69062935 69062935 + Silent SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr11:69062935G>C ENST00000308946.3 + 2 564 c.114G>C c.(112-114)gtG>gtC p.V38V MYEOV_ENST00000535407.1_5'UTR|MYEOV_ENST00000441339.2_Silent_p.V38V NM_138768.2 NP_620123.2 Q96EZ4 MYEOV_HUMAN myeloma overexpressed 38 endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1) 24 all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128) LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713) Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153) TCCGTGGTGTGTCCTTCCTGA 0.567000 11 1322 0 0 1 0 0 EFCAB12 90288 broad.mit.edu 37 3 129137244 129137244 + Silent SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr3:129137244C>T ENST00000505956.1 - 3 696 c.534G>A c.(532-534)caG>caA p.Q178Q EFCAB12_ENST00000326085.3_Silent_p.Q178Q NM_207307.1 NP_997190.1 EF-hand calcium binding domain 12 GCAGCTGGAGCTGGGGCACCA 0.607000 5 17 0 0 1 0 0 GLRA3 8001 broad.mit.edu 37 4 175580279 175580279 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr4:175580279C>T ENST00000274093.3 - 8 1499 c.997G>A c.(997-999)Gag>Aag p.E333K GLRA3_ENST00000340217.5_Missense_Mutation_p.E333K NM_006529.2 NP_006520.2 O75311 GLRA3_HUMAN glycine receptor, alpha 3 333 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) GCTGCATACTCCAGAAGTGCT 0.368000 9 59 0 0 1 0 0 FBXO34 55030 broad.mit.edu 37 14 55818418 55818418 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr14:55818418G>C ENST00000313833.4 + 2 1555 c.1310G>C c.(1309-1311)aGa>aCa p.R437T FBXO34_ENST00000440021.1_Missense_Mutation_p.R437T NM_017943.3 NP_060413.2 Q9NWN3 FBX34_HUMAN F-box protein 34 437 p.R437I(1) breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3) 22 TGTATGAGCAGAGAGCTTGTG 0.433000 13 107 0 0 1 0 0 VPS8 23355 broad.mit.edu 37 3 184700418 184700418 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr3:184700418C>T ENST00000437079.3 + 41 3656 c.3485C>T c.(3484-3486)cCt>cTt p.P1162L VPS8_ENST00000446204.2_Missense_Mutation_p.P1070L|VPS8_ENST00000287546.4_Missense_Mutation_p.P1162L|VPS8_ENST00000436792.2_Missense_Mutation_p.P1160L NM_001009921.2 NP_001009921.1 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog (S. cerevisiae) 1162 zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) TCAGCCATTCCTCATCTACAC 0.398000 3 32 0 0 1 0 0 KANSL1 284058 broad.mit.edu 37 17 44110783 44110783 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr17:44110783C>T ENST00000262419.6 - 12 3180 c.2710G>A c.(2710-2712)Gag>Aag p.E904K KANSL1_ENST00000575318.1_Missense_Mutation_p.E840K|KANSL1_ENST00000574590.1_Missense_Mutation_p.E904K|KANSL1_ENST00000432791.1_Missense_Mutation_p.E904K|KANSL1_ENST00000572904.1_Missense_Mutation_p.E904K|KANSL1_ENST00000393476.3_Missense_Mutation_p.E198K NM_001193466.1 NP_001180395 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 904 MLL1 complex protein binding TCATTCTCCTCATCAGGACTC 0.488000 7 64 0 0 1 0 0 DDX20 11218 broad.mit.edu 37 1 112302068 112302068 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:112302068C>T ENST00000369702.4 + 3 1063 c.443C>T c.(442-444)tCt>tTt p.S148F DDX20_ENST00000536167.1_Intron NM_007204.4 NP_009135.4 Q9UHI6 DDX20_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 148 Helicase ATP-binding. assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1) 21 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CAGATACATTCTGTTATTACA 0.353000 18 52 0 0 1 0 0 SPAG16 79582 broad.mit.edu 37 2 214794779 214794779 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr2:214794779G>A ENST00000331683.5 + 12 1405 c.1310G>A c.(1309-1311)cGc>cAc p.R437H SPAG16_ENST00000374309.3_Missense_Mutation_p.R343H NM_024532.4 NP_078808.3 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 437 cilium assembly cilium axoneme|flagellar axoneme endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 56 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) GGACACAGCCGCGCAGTGTGG 0.438000 5 63 0 0 1 0 0 PLEKHG7 440107 broad.mit.edu 37 12 93162806 93162806 + Nonsense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr12:93162806C>T ENST00000344636.3 + 11 1166 c.982C>T c.(982-984)Cga>Tga p.R328* NM_001004330.2 NP_001004330.1 Q6ZR37 PKHG7_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 7 328 PH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1) 17 AAACAGATATCGACAGTGTAT 0.318000 9 100 0 0 1 0 0 LAD1 3898 broad.mit.edu 37 1 201355807 201355807 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:201355807C>G ENST00000391967.2 - 3 983 c.682G>C c.(682-684)Gag>Cag p.E228Q LAD1_ENST00000367313.3_Missense_Mutation_p.E242Q NM_005558.3 NP_005549.2 O00515 LAD1_HUMAN ladinin 1 228 8 X SEK repeats. basement membrane structural molecule activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2) 19 GACTTCTTCTCTGAGCTGTTT 0.502000 11 105 0 0 1 0 0 YARS 8565 broad.mit.edu 37 1 33256819 33256819 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:33256819G>C ENST00000373477.4 - 6 1536 c.628C>G c.(628-630)Ctg>Gtg p.L210V NM_003680.3 NP_003671.1 P54577 SYYC_HUMAN tyrosyl-tRNA synthetase 210 apoptosis|tyrosyl-tRNA aminoacylation cytosol|extracellular space|nucleus|soluble fraction ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) L-Tyrosine(DB00135) GGATTCATCAGATGGACCCGT 0.443000 12 170 0 0 1 0 0 VSIG10 54621 broad.mit.edu 37 12 118533470 118533470 + Nonsense_Mutation SNP C C A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr12:118533470C>A ENST00000359236.5 - 2 505 c.229G>T c.(229-231)Gag>Tag p.E77* VSIG10_ENST00000536905.1_5'UTR NM_019086.5 NP_061959.2 Q8N0Z9 VSI10_HUMAN V-set and immunoglobulin domain containing 10 77 Ig-like C2-type 1. integral to membrane endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1) 17 AAGCGAGGCTCAGCTGGCCGG 0.582000 3 18 0.004672 0.00476959 1 1 0 ANKRD28 23243 broad.mit.edu 37 3 15762520 15762520 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr3:15762520C>T ENST00000399451.2 - 8 1175 c.808G>A c.(808-810)Gaa>Aaa p.E270K ANKRD28_ENST00000383777.1_Missense_Mutation_p.E303K|ANKRD28_ENST00000497037.1_5'UTR NM_001195098.1|NM_001195099.1|NM_015199.3 NP_001182027.1|NP_001182028.1|NP_056014.2 O15084 ANR28_HUMAN ankyrin repeat domain 28 270 nucleoplasm protein binding breast(2)|endometrium(1)|large_intestine(2)|prostate(1) 6 AATCCTTTTTCATTCTTTTGA 0.403000 13 132 0 0 1 0 0 ERP44 23071 broad.mit.edu 37 9 102814809 102814809 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr9:102814809C>T ENST00000262455.6 - 4 375 c.176G>A c.(175-177)cGt>cAt p.R59H NM_015051.1 NP_055866.1 Q9BS26 ERP44_HUMAN endoplasmic reticulum protein 44 59 Thioredoxin. cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment protein binding|protein disulfide isomerase activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2) 19 CTGACTGAAACGACACCTATA 0.353000 4 40 0 0 1 0 0 HNRNPUL2 221092 broad.mit.edu 37 11 62488883 62488883 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr11:62488883C>T ENST00000301785.5 - 9 1687 c.1495G>A c.(1495-1497)Gag>Aag p.E499K HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.E499K NM_001079559.2 NP_001073027.1 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 2 499 cell killing nucleus ATP binding|nucleic acid binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 TCTGGCTCCTCGAGACCCTTC 0.438000 40 93 0 0 1 0 0 FGA 2243 broad.mit.edu 37 4 155505986 155505986 + Splice_Site SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr4:155505986C>G ENST00000302053.3 - 6 1970 c.e6-1 NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) TCATCACAGTCTAAAAAAAAA 0.363000 3 64 0 0 1 0 0 ABCB10 23456 broad.mit.edu 37 1 229667406 229667406 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:229667406C>T ENST00000344517.4 - 7 1454 c.1412G>A c.(1411-1413)aGa>aAa p.R471K NM_012089.2 NP_036221.2 Q9NRK6 ABCBA_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 10 471 R -> T (in a breast cancer sample; somatic mutation). integral to mitochondrial membrane|mitochondrial inner membrane ATP binding|oligopeptide-transporting ATPase activity p.R471T(1) breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2) 31 Breast(184;0.143)|Ovarian(103;0.249) Prostate(94;0.167) CTTGGGCTCTCTCTCCAGGAG 0.517000 16 35 0 0 1 0 0 BLM 641 broad.mit.edu 37 15 91328258 91328258 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr15:91328258G>A ENST00000355112.3 + 14 2888 c.2770G>A c.(2770-2772)Gat>Aat p.D924N BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Missense_Mutation_p.D924N NM_000057.2 NP_000048.1 P54132 BLM_HUMAN Bloom syndrome, RecQ helicase-like 924 Helicase C-terminal. double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) TGGCCTCAGTGATTCTGCCAG 0.433000 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 7 84 0 0 1 0 0 C20orf26 26074 broad.mit.edu 37 20 20056234 20056234 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr20:20056234C>G ENST00000245957.5 + 6 617 c.541C>G c.(541-543)Cct>Gct p.P181A C20orf26_ENST00000377306.1_Missense_Mutation_p.P181A|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.P181A|C20orf26_ENST00000377309.2_5'UTR NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 181 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) CAGCCACTATCCTCAGCTGCA 0.483000 13 120 0 0 1 0 0 POMGNT1 55624 broad.mit.edu 37 1 46657836 46657836 + Silent SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:46657836G>A ENST00000371992.1 - 17 2123 c.1473C>T c.(1471-1473)atC>atT p.I491I POMGNT1_ENST00000535522.1_Silent_p.I469I|POMGNT1_ENST00000371986.3_Silent_p.I491I|POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371984.3_Silent_p.I491I NM_001243766.1 NP_001230695 Q8WZA1 PMGT1_HUMAN protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 491 protein N-linked glycosylation|protein O-linked glycosylation Golgi membrane|integral to membrane|microsome alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(166;0.155) CGTCAGGGATGATGCACTCTC 0.567000 4 43 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23904747 23904747 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr13:23904747G>A ENST00000382298.3 - 10 13856 c.13268C>T c.(13267-13269)tCa>tTa p.S4423L SACS_ENST00000402364.1_Missense_Mutation_p.S3673L|SACS_ENST00000382292.3_Missense_Mutation_p.S4423L NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 4423 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein 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) CTGTCCGGCTGAAGGGGGGCA 0.448000 10 113 0 0 1 0 0 BCMO1 53630 broad.mit.edu 37 16 81279132 81279132 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr16:81279132G>A ENST00000258168.2 + 2 578 c.117G>A c.(115-117)atG>atA p.M39I BCMO1_ENST00000425577.2_Missense_Mutation_p.A14T|BCMO1_ENST00000564552.1_Missense_Mutation_p.M39I NM_017429.2 NP_059125.2 Q9HAY6 BCDO1_HUMAN beta-carotene 15,15'-monooxygenase 1 39 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1) 23 GGCCTGGGATGCACACAGTTG 0.547000 9 83 0 0 1 0 0 FUT1 2523 broad.mit.edu 37 19 49254077 49254077 + Silent SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr19:49254077G>A ENST00000310160.3 - 4 1436 c.462C>T c.(460-462)taC>taT p.Y154Y NM_000148.3 NP_000139.1 P19526 FUT1_HUMAN fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) 154 Y -> C (in Bombay H-).|Y -> H (in para-Bombay allele H5; dbSNP:rs55678037). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to plasma membrane|membrane fraction galactoside 2-alpha-L-fucosyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 17 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222) TCAAGTCCGCGTACTCCTCCG 0.617000 6 130 0 0 1 0 0 ERCC6L 54821 broad.mit.edu 37 X 71427661 71427661 + Missense_Mutation SNP G G T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chrX:71427661G>T ENST00000373657.1 - 3 1189 c.587C>A c.(586-588)gCa>gAa p.A196E PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.A319E Q2NKX8 ERC6L_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 319 Helicase ATP-binding. cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1) 38 Renal(35;0.156) TTTTATGATTGCCATTAAGTT 0.373000 8 134 0.00448238 0.00460003 1 1 0 WDR25 79446 broad.mit.edu 37 14 100992341 100992341 + Missense_Mutation SNP C C A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr14:100992341C>A ENST00000335290.6 + 5 1462 c.1236C>A c.(1234-1236)ttC>ttA p.F412L WDR25_ENST00000557502.1_3'UTR|WDR25_ENST00000402312.3_Missense_Mutation_p.F412L|WDR25_ENST00000542471.2_Missense_Mutation_p.F155L|WDR25_ENST00000554998.1_Missense_Mutation_p.F412L NM_024515.4 NP_078791.3 Q64LD2 WDR25_HUMAN WD repeat domain 25 412 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1) 20 Melanoma(154;0.212) CCTGGGATTTCCGGACCTCTG 0.532000 8 34 0.00448238 0.00460003 1 1 0 ACACB 32 broad.mit.edu 37 12 109617089 109617089 + Missense_Mutation SNP A A G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr12:109617089A>G ENST00000338432.7 + 10 1753 c.1634A>G c.(1633-1635)gAg>gGg p.E545G ACACB_ENST00000377848.3_Missense_Mutation_p.E545G|ACACB_ENST00000543080.1_3'UTR|ACACB_ENST00000377854.5_Missense_Mutation_p.E545G O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 545 ATP-grasp.|Biotin carboxylation. 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 cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|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) GCCATATTCGAGTTCATGGAG 0.577000 3 13 0 0 1 0 0 CEP350 9857 broad.mit.edu 37 1 179989198 179989198 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:179989198G>C ENST00000367607.3 + 12 2707 c.2289G>C c.(2287-2289)ttG>ttC p.L763F NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 763 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 CCCATCTCTTGAGTTTAGAGC 0.403000 14 144 0 0 1 0 0 LRRC8B 23507 broad.mit.edu 37 1 90049142 90049142 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:90049142C>G ENST00000330947.2 + 5 1293 c.933C>G c.(931-933)atC>atG p.I311M RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Missense_Mutation_p.I311M|LRRC8B_ENST00000439853.1_Missense_Mutation_p.I311M NM_001134476.1 NP_001127948.1 Q6P9F7 LRC8B_HUMAN leucine rich repeat containing 8 family, member B 311 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 26 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) TGGCAGAAATCTTTAAGGTCC 0.418000 10 129 0 0 1 0 0 RARRES1 5918 broad.mit.edu 37 3 158415544 158415544 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr3:158415544C>T ENST00000237696.5 - 6 1088 c.808G>A c.(808-810)Gag>Aag p.E270K NM_206963.1 NP_996846.1 P49788 TIG1_HUMAN retinoic acid receptor responder (tazarotene induced) 1 270 negative regulation of cell proliferation integral to membrane NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1) 9 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) Tretinoin(DB00755) GTCTGTAGCTCTTGACAGTGG 0.388000 19 97 0 0 1 0 0 RSL1D1 26156 broad.mit.edu 37 16 11931909 11931909 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr16:11931909C>T ENST00000571133.1 - 9 1280 c.1208G>A c.(1207-1209)cGt>cAt p.R403H RSL1D1_ENST00000542106.1_Missense_Mutation_p.R183H NM_015659.2 NP_056474.2 O76021 RL1D1_HUMAN ribosomal L1 domain containing 1 403 regulation of protein localization|translation large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 15 tttcttccCACGAGGTGTGCT 0.423000 27 275 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7580126 7580126 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr6:7580126C>G ENST00000379802.3 + 23 4044 c.3703C>G c.(3703-3705)Ctt>Gtt p.L1235V DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1235 Central fibrous rod domain. 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) TTCCAAAAATCTTAGAAACCA 0.403000 6 44 0 0 1 0 0 KIF21A 55605 broad.mit.edu 37 12 39751995 39751995 + Silent SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr12:39751995G>A ENST00000395670.3 - 8 1619 c.1200C>T c.(1198-1200)ctC>ctT p.L400L KIF21A_ENST00000361961.3_Silent_p.L400L|KIF21A_ENST00000361418.5_Silent_p.L400L|KIF21A_ENST00000541463.2_Silent_p.L400L|KIF21A_ENST00000544797.2_Silent_p.L400L Q7Z4S6 KI21A_HUMAN kinesin family member 21A 400 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) TGTACTCCATGAGCTCCATCT 0.398000 11 167 0 0 1 0 0 OR6X1 390260 broad.mit.edu 37 11 123624504 123624504 + Silent SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr11:123624504C>T ENST00000327930.2 - 1 749 c.723G>A c.(721-723)tcG>tcA p.S241S NM_001005188.1 NP_001005188.1 Q8NH79 OR6X1_HUMAN olfactory receptor, family 6, subfamily X, member 1 241 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) CTGTCAGGTGCGAGGCACAGG 0.463000 3 53 0 0 1 0 0 ZP2 7783 broad.mit.edu 37 16 21210163 21210163 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr16:21210163C>G ENST00000574002.1 - 18 2430 c.1948G>C c.(1948-1950)Gag>Cag p.E650Q AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Missense_Mutation_p.E650Q|ZP2_ENST00000574091.1_Missense_Mutation_p.E641Q Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 (sperm receptor) 650 binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) GTCATTTTCTCTGCTTCAGTG 0.488000 5 38 0 0 1 0 0 ZNF662 389114 broad.mit.edu 37 3 42956704 42956704 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr3:42956704G>C ENST00000541208.1 + 5 1508 c.1139G>C c.(1138-1140)aGa>aCa p.R380T KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.R406T|ZNF662_ENST00000440367.2_Missense_Mutation_p.R380T Q6ZS27 ZN662_HUMAN zinc finger protein 662 380 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R380K(1) breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.217) CGACATCAAAGAATCCATACT 0.463000 6 59 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19480387 19480387 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:19480387C>G ENST00000375267.2 - 45 6508 c.6505G>C c.(6505-6507)Gag>Cag p.E2169Q UBR4_ENST00000375254.3_Missense_Mutation_p.E2169Q|UBR4_ENST00000375226.2_Missense_Mutation_p.E2169Q|UBR4_ENST00000375217.2_Missense_Mutation_p.E2169Q Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 2169 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) TTCATCACCTCAGACCACTGG 0.488000 13 67 0 0 1 0 0 ZNF728 388523 broad.mit.edu 37 19 23159728 23159728 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr19:23159728C>G ENST00000594710.1 - 4 556 c.411G>C c.(409-411)ttG>ttC p.L137F NM_001267716.1 NP_001254645.1 zinc finger protein 728 GTGTAGTTGTCAAACTCTGGT 0.313000 4 58 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152085061 152085061 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:152085061C>T ENST00000368804.1 - 2 631 c.632G>A c.(631-633)cGa>cAa p.R211Q NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 211 keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCCCGCCTTCGCAGTTGCTC 0.567000 20 92 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71795388 71795388 + Missense_Mutation SNP G G T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr2:71795388G>T ENST00000258104.3 + 26 3007 c.2730G>T c.(2728-2730)aaG>aaT p.K910N DYSF_ENST00000409366.1_Missense_Mutation_p.K911N|DYSF_ENST00000394120.2_Missense_Mutation_p.K911N|DYSF_ENST00000409651.1_Missense_Mutation_p.K942N|DYSF_ENST00000410020.3_Missense_Mutation_p.K928N|DYSF_ENST00000410041.1_Missense_Mutation_p.K928N|DYSF_ENST00000409582.3_Missense_Mutation_p.K927N|DYSF_ENST00000413539.2_Missense_Mutation_p.K941N|DYSF_ENST00000429174.2_Missense_Mutation_p.K910N|DYSF_ENST00000409744.1_Missense_Mutation_p.K897N|DYSF_ENST00000409762.1_Missense_Mutation_p.K927N NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 910 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 TCACGGGCAAGATCAAGCTAC 0.607000 42 239 3.54909e-21 4.03399e-21 1 1 0 IQGAP1 8826 broad.mit.edu 37 15 91017158 91017158 + Nonsense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr15:91017158C>T ENST00000268182.5 + 21 2588 c.2464C>T c.(2464-2466)Cga>Tga p.R822* IQGAP1_ENST00000560738.1_Nonsense_Mutation_p.R250* NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 822 IQ 3. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) GCACCAAGCTCGAAAGCGCTA 0.488000 4 63 0 0 1 0 0 OR4K5 79317 broad.mit.edu 37 14 20389116 20389116 + Silent SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr14:20389116G>A ENST00000315915.4 + 1 376 c.351G>A c.(349-351)tcG>tcA p.S117S NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S117S(1) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TACTTGTTTCGATGGCCTATG 0.448000 9 275 0 0 1 0 0 MEX3A 92312 broad.mit.edu 37 1 156046778 156046778 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:156046778C>T ENST00000532414.2 - 2 1149 c.1150G>A c.(1150-1152)Gtg>Atg p.V384M NM_001093725.1 NP_001087194.1 A1L020 MEX3A_HUMAN mex-3 RNA binding family member A 384 cytoplasmic mRNA processing body|nucleus RNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(3) 9 Hepatocellular(266;0.158)|all_neural(408;0.195) GTCTCGGCCACGCCGTAGTAC 0.672000 3 20 0 0 1 0 0 ATP13A3 79572 broad.mit.edu 37 3 194165455 194165455 + Splice_Site SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr3:194165455G>A ENST00000439040.1 - 15 2349 c.1558C>T c.(1558-1560)Cga>Tga p.R520* ATP13A3_ENST00000256031.4_Splice_Site_p.R520* Q9H7F0 AT133_HUMAN ATPase type 13A3 520 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) AATATTTACCGTGCATTTTCC 0.318000 37 85 0 0 1 0 0 WDR11 55717 broad.mit.edu 37 10 122626229 122626229 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr10:122626229G>A ENST00000263461.6 + 8 1389 c.1143G>A c.(1141-1143)atG>atA p.M381I NM_018117.11 NP_060587.8 Q9BZH6 WDR11_HUMAN WD repeat domain 11 381 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5) 38 GCAGGGTCATGATATGGGAAC 0.443000 5 78 0 0 1 0 0 MCM10 55388 broad.mit.edu 37 10 13213119 13213119 + Missense_Mutation SNP G G A rs146076863 byFrequency TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr10:13213119G>A ENST00000378694.1 + 2 280 c.205G>A c.(205-207)Gac>Aac p.D69N MCM10_ENST00000484800.2_Missense_Mutation_p.D69N|MCM10_ENST00000378714.3_Missense_Mutation_p.D69N Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 69 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 AGAGACAAGAGACGAAAAGGA 0.478000 11 145 0 0 1 0 0 PTGES3L-AARSD1 100885850 broad.mit.edu 37 17 41107954 41107954 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr17:41107954C>G ENST00000421990.2 - 12 1566 c.1221G>C c.(1219-1221)aaG>aaC p.K407N AARSD1_ENST00000427569.2_Missense_Mutation_p.K233N|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.K316N|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.K346N|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.K407N NM_001136042.2 NP_001129514.2 TGGTTCTGTTCTTTTTCCCCT 0.478000 7 128 0 0 1 0 0 ABHD12 26090 broad.mit.edu 37 20 25281503 25281503 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr20:25281503G>A ENST00000339157.5 - 13 1447 c.1175C>T c.(1174-1176)tCg>tTg p.S392L ABHD12_ENST00000376542.3_Intron NM_001042472.2 NP_001035937.1 Q8N2K0 ABD12_HUMAN abhydrolase domain containing 12 392 integral to membrane acylglycerol lipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1) 12 CTCAGGCTCCGACTTCCCCAG 0.557000 3 23 0 0 1 0 0 AP1G2 8906 broad.mit.edu 37 14 24030568 24030568 + Missense_Mutation SNP C C A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr14:24030568C>A ENST00000308724.5 - 18 2685 c.1930G>T c.(1930-1932)Gac>Tac p.D644Y AP1G2_ENST00000397120.3_Missense_Mutation_p.D644Y|RP11-66N24.3_ENST00000555968.1_RNA NM_003917.2 NP_003908.1 O75843 AP1G2_HUMAN adaptor-related protein complex 1, gamma 2 subunit 644 interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport AP-1 adaptor complex|endosome membrane protein binding|protein transporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 28 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00672) GGGGAGGGGTCCAGATGGGGA 0.597000 5 43 0.000602214 0.000627909 1 1 0 OR4F6 390648 broad.mit.edu 37 15 102346600 102346600 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr15:102346600G>C ENST00000328882.4 + 1 699 c.678G>C c.(676-678)caG>caC p.Q226H NM_001005326.1 NP_001005326.1 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, member 6 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) TGACTGTTCAGAAAAAATCTT 0.348000 11 103 0 0 1 0 0 HLA-DPA1 3113 broad.mit.edu 37 6 33036808 33036808 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr6:33036808G>C ENST00000419277.1 - 4 745 c.616C>G c.(616-618)Ctc>Gtc p.L206V HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.L206V NM_001242524.1|NM_001242525.1 NP_001229453.1|NP_001229454.1 P20036 DPA1_HUMAN major histocompatibility complex, class II, DP alpha 1 206 Alpha-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2) 15 CAGTGCTTGAGGAGCGGCTGG 0.537000 10 95 0 0 1 0 0 PER3 8863 broad.mit.edu 37 1 7845511 7845511 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:7845511G>C ENST00000377532.3 + 2 363 c.139G>C c.(139-141)Gat>Cat p.D47H PER3_ENST00000377541.1_Missense_Mutation_p.D47H|PER3_ENST00000361923.2_Missense_Mutation_p.D47H P56645 PER3_HUMAN period circadian clock 3 47 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) TGAACAGCAAGATCGAAACAG 0.408000 3 37 0 0 1 0 0 RANBP6 26953 broad.mit.edu 37 9 6012363 6012363 + Nonsense_Mutation SNP A A T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr9:6012363A>T ENST00000259569.5 - 1 3255 c.3245T>A c.(3244-3246)tTa>tAa p.L1082* NM_001243202.1|NM_001243203.1|NM_012416.3 NP_001230131.1|NP_001230132.1|NP_036548.1 O60518 RNBP6_HUMAN RAN binding protein 6 1082 protein transport cytoplasm|nucleus binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) TTCCAACCATAAATCTTCAGA 0.363000 5 30 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179664232 179664232 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr2:179664232G>A ENST00000589042.1 - 6 1120 c.896C>T c.(895-897)cCg>cTg p.P299L TTN_ENST00000342175.6_Missense_Mutation_p.P299L|TTN_ENST00000342992.6_Missense_Mutation_p.P299L|TTN_ENST00000359218.5_Missense_Mutation_p.P299L|TTN_ENST00000460472.2_Missense_Mutation_p.P299L|TTN_ENST00000591111.1_Missense_Mutation_p.P299L|TTN_ENST00000360870.5_Missense_Mutation_p.P299L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 299 ZIS1. 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) AGATGGGGTCGGTGCCCGCAC 0.557000 4 43 0 0 1 0 0 ENPP2 5168 broad.mit.edu 37 8 120606089 120606089 + Silent SNP A A G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr8:120606089A>G ENST00000427067.2 - 12 1152 c.972T>C c.(970-972)ccT>ccC p.P324P ENPP2_ENST00000259486.6_Silent_p.P380P|ENPP2_ENST00000075322.6_Silent_p.P328P|ENPP2_ENST00000522826.1_Silent_p.P328P Q13822 ENPP2_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 2 328 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TTTCCCTCAGAGGATTTGTCA 0.423000 16 191 0 0 1 0 0 VPS35 55737 broad.mit.edu 37 16 46694554 46694554 + Nonsense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr16:46694554G>A ENST00000299138.7 - 17 2279 c.2221C>T c.(2221-2223)Cag>Tag p.Q741* NM_018206.4 NP_060676.2 Q96QK1 VPS35_HUMAN vacuolar protein sorting 35 homolog (S. cerevisiae) 741 protein transport|retrograde transport, endosome to Golgi cytosol|endosome|membrane protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1) 23 all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) TTTAAAACCTGAATTGTTACC 0.338000 6 47 0 0 1 0 0 KIF15 56992 broad.mit.edu 37 3 44854636 44854636 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr3:44854636G>C ENST00000326047.4 + 19 2496 c.2347G>C c.(2347-2349)Gaa>Caa p.E783Q KIF15_ENST00000425755.1_Missense_Mutation_p.E418Q NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 783 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) GAATGTCCTTGAAAAGCAGCT 0.343000 6 51 0 0 1 0 0 PPIG 9360 broad.mit.edu 37 2 170493671 170493671 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr2:170493671G>C ENST00000260970.3 + 14 2123 c.1903G>C c.(1903-1905)Gaa>Caa p.E635Q PPIG_ENST00000409714.3_Missense_Mutation_p.E620Q|PPIG_ENST00000448752.2_Missense_Mutation_p.E635Q NM_004792.2 NP_004783.2 Q13427 PPIG_HUMAN peptidylprolyl isomerase G (cyclophilin G) 635 Arg/Ser-rich (RS domain). protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1) 43 L-Proline(DB00172) AGAGAGAGAAGAAAGTCAAAG 0.428000 3 33 0 0 1 0 0 EPHB3 2049 broad.mit.edu 37 3 184297702 184297702 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr3:184297702G>A ENST00000330394.2 + 11 2604 c.2152G>A c.(2152-2154)Gcc>Acc p.A718T EIF2B5_ENST00000444495.1_Intron NM_004443.3 NP_004434.2 P54753 EPHB3_HUMAN EPH receptor B3 718 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity p.A718S(1) breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) GGAAAACTGCGCCCTGGACTC 0.577000 8 40 0 0 1 0 0 GON4L 54856 broad.mit.edu 37 1 155730356 155730356 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:155730356G>A ENST00000437809.1 - 24 5110 c.4988C>T c.(4987-4989)aCc>aTc p.T1663I GON4L_ENST00000368331.1_Missense_Mutation_p.T1663I|GON4L_ENST00000271883.5_Missense_Mutation_p.T1663I NM_001282856.1 NP_001269785.1 Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 1663 PAH 1. regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) CCGTCTCTGGGTACTTGACTC 0.463000 23 82 0 0 1 0 0 TMEM196 256130 broad.mit.edu 37 7 19765181 19765181 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr7:19765181C>G ENST00000405844.1 - 3 1110 c.415G>C c.(415-417)Gaa>Caa p.E139Q TMEM196_ENST00000405764.3_Missense_Mutation_p.E139Q|TMEM196_ENST00000422233.1_Missense_Mutation_p.E71Q|TMEM196_ENST00000493519.1_Missense_Mutation_p.E71Q|TMEM196_ENST00000433641.1_Missense_Mutation_p.E71Q Q5HYL7 TM196_HUMAN transmembrane protein 196 145 integral to membrane breast(1)|large_intestine(1)|lung(4) 6 TGCTCCCTTTCTGAGAACATC 0.502000 8 37 0 0 1 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86548557 86548557 + Missense_Mutation SNP T T C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr7:86548557T>C ENST00000450689.2 - 11 1654 c.1469A>G c.(1468-1470)aAc>aGc p.N490S KIAA1324L_ENST00000297222.6_Missense_Mutation_p.N250S|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.N323S|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.N490S|KIAA1324L_ENST00000490995.1_5'UTR NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 490 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) GATATGCAAGTTTAAGATCAG 0.373000 6 36 0 0 1 0 0 MCM10 55388 broad.mit.edu 37 10 13213179 13213179 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr10:13213179G>C ENST00000378694.1 + 2 340 c.265G>C c.(265-267)Gaa>Caa p.E89Q MCM10_ENST00000484800.2_Missense_Mutation_p.E89Q|MCM10_ENST00000378714.3_Missense_Mutation_p.E89Q Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 89 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 AGATGAAGAAGAAGTTCCCGC 0.478000 16 90 0 0 1 0 0 APLNR 187 broad.mit.edu 37 11 57004122 57004122 + Silent SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr11:57004122G>A ENST00000606794.1 - 1 553 c.357C>T c.(355-357)tgC>tgT p.C119C NM_005161.4 NP_005152.1 P35414 APJ_HUMAN apelin receptor 119 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 GGCCGGTGAGGCAGAAGACGC 0.622000 3 13 0 0 1 0 0 DPEP3 64180 broad.mit.edu 37 16 68010679 68010679 + Splice_Site SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr16:68010679C>G ENST00000268793.4 - 8 1467 c.e8-1 NM_001129758.1|NM_022357.3 NP_001123230.1|NP_071752.3 Q9H4B8 DPEP3_HUMAN dipeptidase 3 meiosis anchored to membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236) TCAAAGTGATCTAGGGTGGAG 0.572000 3 20 0 0 1 0 0 GJB5 2709 broad.mit.edu 37 1 35223551 35223551 + Missense_Mutation SNP A A G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:35223551A>G ENST00000338513.1 + 2 793 c.620A>G c.(619-621)tAc>tGc p.Y207C NM_005268.3 NP_005259.1 O95377 CXB5_HUMAN gap junction protein, beta 5, 31.1kDa 207 cell communication|epidermis development connexon complex|integral to membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 Myeloproliferative disorder(586;0.0393) GAGCTCATCTACCTGGTGAGC 0.547000 3 58 0 0 1 0 0 ASPHD2 57168 broad.mit.edu 37 22 26838528 26838528 + Silent SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr22:26838528G>A ENST00000215906.5 + 3 1428 c.990G>A c.(988-990)gcG>gcA p.A330A NM_020437.4 NP_065170.2 Q6ICH7 ASPH2_HUMAN aspartate beta-hydroxylase domain containing 2 330 peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1) 16 TGCATGCTGCGTTCCATGAAG 0.473000 4 44 0 0 1 0 0 LRRC8C 84230 broad.mit.edu 37 1 90180297 90180297 + Missense_Mutation SNP A A C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:90180297A>C ENST00000370454.4 + 3 2423 c.2168A>C c.(2167-2169)gAt>gCt p.D723A LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron NM_032270.4 NP_115646 Q8TDW0 LRC8C_HUMAN leucine rich repeat containing 8 family, member C 723 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 28 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) AGCCTTCCAGATGAACTCTAC 0.353000 13 56 0 0 1 0 0 LRG1 116844 broad.mit.edu 37 19 4538013 4538013 + Missense_Mutation SNP C C T rs148677930 byFrequency TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr19:4538013C>T ENST00000306390.6 - 2 1443 c.983G>A c.(982-984)cGc>cAc p.R328H CTB-50L17.14_ENST00000586020.1_Intron NM_052972.2 NP_443204.1 P02750 A2GL_HUMAN leucine-rich alpha-2-glycoprotein 1 328 LRRCT. extracellular region|membrane NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 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) CCCAGCACAGCGCGTGTCATT 0.592000 4 35 0 0 1 0 0 ARHGEF19 128272 broad.mit.edu 37 1 16534631 16534631 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:16534631C>G ENST00000270747.3 - 3 638 c.502G>C c.(502-504)Gag>Cag p.E168Q NM_153213.3 NP_694945.2 Q8IW93 ARHGJ_HUMAN Rho guanine nucleotide exchange factor (GEF) 19 168 regulation of actin cytoskeleton organization intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649) AGGGCCTGCTCTTGCACTACC 0.662000 3 40 0 0 1 0 0 ZSCAN22 342945 broad.mit.edu 37 19 58850342 58850342 + Missense_Mutation SNP G G T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr19:58850342G>T ENST00000329665.4 + 3 1273 c.1126G>T c.(1126-1128)Ggg>Tgg p.G376W NM_181846.2 NP_862829.1 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 376 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2) 16 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) GGTGCACACGGGGGAGCGGCC 0.587000 11 47 1.58986e-06 1.69846e-06 1 1 0 VPS35 55737 broad.mit.edu 37 16 46694559 46694559 + Missense_Mutation SNP G G T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr16:46694559G>T ENST00000299138.7 - 17 2274 c.2216C>A c.(2215-2217)aCa>aAa p.T739K NM_018206.4 NP_060676.2 Q96QK1 VPS35_HUMAN vacuolar protein sorting 35 homolog (S. cerevisiae) 739 protein transport|retrograde transport, endosome to Golgi cytosol|endosome|membrane protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1) 23 all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) AACCTGAATTGTTACCTACAA 0.343000 6 45 0.00116845 0.00121184 1 1 0 KIAA1407 57577 broad.mit.edu 37 3 113753890 113753890 + Missense_Mutation SNP C C T rs142468996 TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr3:113753890C>T ENST00000295878.3 - 6 846 c.700G>A c.(700-702)Gag>Aag p.E234K KIAA1407_ENST00000545063.1_Missense_Mutation_p.E65K NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 234 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 CTTTTCTTCTCTTCTTGCACC 0.473000 12 112 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21628248 21628248 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr7:21628248G>A ENST00000328843.6 + 11 1998 c.1967G>A c.(1966-1968)cGt>cAt p.R656H DNAH11_ENST00000409508.3_Missense_Mutation_p.R656H Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 656 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GCATCTCTCCGTTATCTGTAA 0.393000 Kartagener syndrome 7 49 0 0 1 0 0 DIAPH2 1730 broad.mit.edu 37 X 96203943 96203943 + Nonsense_Mutation SNP G G T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chrX:96203943G>T ENST00000324765.8 + 15 1866 c.1519G>T c.(1519-1521)Gaa>Taa p.E507* DIAPH2_ENST00000355827.4_Nonsense_Mutation_p.E507*|DIAPH2_ENST00000373061.3_Nonsense_Mutation_p.E507*|DIAPH2_ENST00000373054.4_Nonsense_Mutation_p.E503*|DIAPH2_ENST00000373049.4_Nonsense_Mutation_p.E507* O60879 DIAP2_HUMAN diaphanous-related formin 2 507 cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 GTTCGATGAAGAATTCACAGC 0.353000 4 54 0.150653 0.15104 1 1 0 ZNF709 163051 broad.mit.edu 37 19 12575559 12575559 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr19:12575559C>T ENST00000397732.3 - 4 1348 c.1177G>A c.(1177-1179)Gaa>Aaa p.E393K ZNF709_ENST00000428311.1_Missense_Mutation_p.E393K|CTD-3105H18.18_ENST00000598753.1_Intron NM_152601.3 NP_689814.1 Q8N972 ZN709_HUMAN zinc finger protein 709 393 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|upper_aerodigestive_tract(3) 6 TGTTTACATTCATAGGGTTTC 0.408000 19 185 0 0 1 0 0 GNL3L 54552 broad.mit.edu 37 X 54574791 54574791 + Missense_Mutation SNP C C T rs145095477 TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chrX:54574791C>T ENST00000336470.4 + 9 899 c.760C>T c.(760-762)Cgt>Tgt p.R254C GNL3L_ENST00000360845.2_Missense_Mutation_p.R254C NM_019067.5 NP_061940.1 Q9NVN8 GNL3L_HUMAN guanine nucleotide binding protein-like 3 (nucleolar)-like 254 ribosome biogenesis nucleolus GTP binding NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 30 CACCCACATTCGTGTGGGTGT 0.542000 5 30 0 0 1 0 0 SH3BP5 9467 broad.mit.edu 37 3 15301295 15301295 + Silent SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr3:15301295G>A ENST00000383791.3 - 6 862 c.642C>T c.(640-642)ctC>ctT p.L214L SH3BP5_ENST00000253688.5_Silent_p.L57L|SH3BP5-AS1_ENST00000420195.1_RNA|SH3BP5_ENST00000426925.1_Silent_p.L57L|SH3BP5_ENST00000408919.3_Silent_p.L57L NM_004844.4 NP_004835.2 O60239 3BP5_HUMAN SH3-domain binding protein 5 (BTK-associated) 214 intracellular signal transduction mitochondrion protein kinase inhibitor activity|SH3 domain binding NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 12 ACTTTGCCTTGAGTTCAAAAT 0.448000 13 102 0 0 1 0 0 FAM179A 165186 broad.mit.edu 37 2 29222194 29222194 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr2:29222194C>T ENST00000379558.4 + 4 638 c.287C>T c.(286-288)gCc>gTc p.A96V FAM179A_ENST00000403861.2_Missense_Mutation_p.A96V NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 96 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 AACCTCAGGGCCTTGTCTTTG 0.622000 3 8 0 0 1 0 0 PBRM1 55193 broad.mit.edu 37 3 52621369 52621369 + Splice_Site SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr3:52621369C>T ENST00000356770.4 - 18 3029 c.3027G>A c.(3025-3027)aaG>aaA p.K1009K PBRM1_ENST00000409114.3_Splice_Site_p.K1056K|PBRM1_ENST00000410007.1_Splice_Site_p.K1016K|PBRM1_ENST00000394830.3_Splice_Site_p.K1016K|PBRM1_ENST00000337303.4_Splice_Site_p.K1041K|PBRM1_ENST00000409057.1_Splice_Site_p.K1041K|PBRM1_ENST00000296302.7_Splice_Site_p.K1041K|PBRM1_ENST00000409767.1_Splice_Site_p.K1056K Q86U86 PB1_HUMAN polybromo 1 1041 BAH 1. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding 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) AGTTTCTTACCTTGACAAACA 0.308000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 6 50 0 0 1 0 0 CCDC108 255101 broad.mit.edu 37 2 219875692 219875692 + Silent SNP T T G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr2:219875692T>G ENST00000341552.5 - 25 4067 c.3984A>C c.(3982-3984)tcA>tcC p.S1328S CCDC108_ENST00000453220.1_Silent_p.S1328S|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000441968.1_Silent_p.S1328S NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 1328 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCACGGGCACTGAGCCACCAT 0.498000 4 34 0 0 1 0 0 PTOV1 53635 broad.mit.edu 37 19 50360312 50360312 + Silent SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr19:50360312C>T ENST00000391842.1 + 6 809 c.639C>T c.(637-639)atC>atT p.I213I PTOV1_ENST00000601675.1_Silent_p.I213I|PTOV1_ENST00000221557.9_Silent_p.I181I|PTOV1_ENST00000601638.1_Silent_p.I181I|PTOV1_ENST00000598325.1_3'UTR|AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000599732.1_Silent_p.I213I|PTOV1_ENST00000600603.1_Silent_p.I181I NM_017432.3 NP_059128.2 Q86YD1 PTOV1_HUMAN prostate tumor overexpressed 1 213 Interaction with FLOT1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|plasma membrane endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1) 16 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132) AGAAGAAGATCTTCATGGGCC 0.647000 19 179 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113702259 113702259 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr8:113702259C>T ENST00000297405.5 - 14 2237 c.1993G>A c.(1993-1995)Ggt>Agt p.G665S CSMD3_ENST00000352409.3_Missense_Mutation_p.G665S|CSMD3_ENST00000343508.3_Missense_Mutation_p.G625S|CSMD3_ENST00000455883.2_Missense_Mutation_p.G561S NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 665 Sushi 3. integral to membrane|plasma membrane p.G665R(1)|p.G625R(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 CCAGGATCACCACAACTTTCT 0.363000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 7 110 0 0 1 0 0 EMR2 30817 broad.mit.edu 37 19 14875382 14875382 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr19:14875382C>T ENST00000315576.3 - 11 1398 c.947G>A c.(946-948)gGg>gAg p.G316E EMR2_ENST00000392967.2_Missense_Mutation_p.G316E|EMR2_ENST00000353876.1_Missense_Mutation_p.G223E|EMR2_ENST00000392964.3_Missense_Mutation_p.G55E|EMR2_ENST00000594076.1_Missense_Mutation_p.G223E|EMR2_ENST00000594294.1_Missense_Mutation_p.G267E|EMR2_ENST00000353005.1_Missense_Mutation_p.G174E|EMR2_ENST00000346057.1_Missense_Mutation_p.G267E|EMR2_ENST00000392965.3_Missense_Mutation_p.G316E|EMR2_ENST00000595839.1_Missense_Mutation_p.G174E|EMR2_ENST00000601345.1_Missense_Mutation_p.G316E|EMR2_ENST00000596991.2_Missense_Mutation_p.G316E NM_013447.3 NP_038475.2 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone receptor-like 2 316 cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 48 CTCCAGGTCCCCAGGGGCCTC 0.617000 8 29 0 0 1 0 0 TXNDC2 84203 broad.mit.edu 37 18 9886621 9886621 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr18:9886621C>T ENST00000306084.6 + 2 344 c.145C>T c.(145-147)Ctc>Ttc p.L49F TXNDC2_ENST00000536353.2_5'UTR|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000357775.5_5'UTR NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 49 cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 CAACGTGCCTCTCCTGGCCCT 0.433000 5 31 0 0 1 0 0 ZAK 51776 broad.mit.edu 37 2 174130948 174130948 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr2:174130948C>G ENST00000375213.3 + 20 1951 c.1873C>G c.(1873-1875)Caa>Gaa p.Q625E MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.Q625E NM_016653.2 NP_057737.2 CATTAAGTATCAACAGATTAC 0.507000 4 28 0 0 1 0 0 KIAA1549 57670 broad.mit.edu 37 7 138603009 138603009 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr7:138603009C>T ENST00000440172.1 - 2 1411 c.1363G>A c.(1363-1365)Gtg>Atg p.V455M KIAA1549_ENST00000242365.4_Missense_Mutation_p.V405M|KIAA1549_ENST00000422774.1_Missense_Mutation_p.V455M NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 455 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 TCTTCCAGCACGGTCATGCAC 0.522000 O BRAF pilocytic astrocytoma 5 32 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179641888 179641888 + Missense_Mutation SNP T T A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr2:179641888T>A ENST00000589042.1 - 27 5026 c.4802A>T c.(4801-4803)tAt>tTt p.Y1601F TTN_ENST00000342175.6_Missense_Mutation_p.Y1555F|TTN_ENST00000342992.6_Missense_Mutation_p.Y1601F|TTN_ENST00000359218.5_Missense_Mutation_p.Y1555F|TTN_ENST00000460472.2_Missense_Mutation_p.Y1555F|TTN_ENST00000591111.1_Missense_Mutation_p.Y1601F|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.Y1601F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1337 Ig-like 7. 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) GATTTTGGGATATTTATGAGG 0.393000 12 88 0 0 1 0 0 MYEOV 26579 broad.mit.edu 37 11 69063240 69063240 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr11:69063240G>C ENST00000535407.1 + 2 792 c.149G>C c.(148-150)aGa>aCa p.R50T MYEOV_ENST00000308946.3_Missense_Mutation_p.R108T|MYEOV_ENST00000441339.2_Missense_Mutation_p.R108T Q96EZ4 MYEOV_HUMAN myeloma overexpressed 108 endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1) 24 all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128) LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713) Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153) GACCGGGAGAGAAACAAGGGA 0.632000 12 1582 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85695995 85695995 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr4:85695995G>A ENST00000322366.6 - 29 5139 c.4732C>T c.(4732-4734)Cct>Tct p.P1578S WDFY3_ENST00000295888.4_Missense_Mutation_p.P1578S Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 1578 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) TTGCTGCTAGGAAAACCTTGC 0.378000 19 50 0 0 1 0 0 BLM 641 broad.mit.edu 37 15 91328217 91328217 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr15:91328217G>C ENST00000355112.3 + 14 2847 c.2729G>C c.(2728-2730)aGa>aCa p.R910T BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Missense_Mutation_p.R910T NM_000057.2 NP_000048.1 P54132 BLM_HUMAN Bloom syndrome, RecQ helicase-like 910 Helicase C-terminal. double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) ACGTTACAGAGAGATGGGCTC 0.483000 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 12 113 0 0 1 0 0 PMFBP1 83449 broad.mit.edu 37 16 72174339 72174339 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr16:72174339C>T ENST00000537465.1 - 6 937 c.779G>A c.(778-780)cGa>cAa p.R260Q PMFBP1_ENST00000355636.6_Missense_Mutation_p.R115Q|PMFBP1_ENST00000237353.10_Missense_Mutation_p.R260Q Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 260 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) CAGCTTATTTCGAAGTTCTTG 0.463000 49 232 0 0 1 0 0 ST8SIA4 7903 broad.mit.edu 37 5 100147715 100147715 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr5:100147715C>G ENST00000231461.5 - 5 1226 c.916G>C c.(916-918)Gat>Cat p.D306H NM_005668.4 NP_005659.1 Q92187 SIA8D_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 306 axon guidance|N-glycan processing integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1) 25 all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203) COAD - Colon adenocarcinoma(37;0.00402) CCATTTAAATCCTTAGGGAAG 0.378000 14 61 0 0 1 0 0 ZSWIM1 90204 broad.mit.edu 37 20 44512080 44512080 + Silent SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr20:44512080C>T ENST00000372523.1 + 2 944 c.849C>T c.(847-849)ttC>ttT p.F283F ZSWIM1_ENST00000372520.1_Silent_p.F283F NM_080603.4 NP_542170.3 Q9BR11 ZSWM1_HUMAN zinc finger, SWIM-type containing 1 283 zinc ion binding breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 Myeloproliferative disorder(115;0.028) CTTCTCTGTTCCGTTACATGC 0.542000 8 90 0 0 1 0 0 GALNT14 79623 broad.mit.edu 37 2 31178533 31178533 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr2:31178533C>T ENST00000349752.5 - 6 1244 c.605G>A c.(604-606)tGt>tAt p.C202Y GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000356174.3_Missense_Mutation_p.C169Y|GALNT14_ENST00000324589.5_Missense_Mutation_p.C207Y|GALNT14_ENST00000406653.1_Missense_Mutation_p.C182Y|GALNT14_ENST00000420311.2_Missense_Mutation_p.C167Y NM_024572.3 NP_078848.2 Q96FL9 GLT14_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) 202 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) GTTCACCTCACAGTGGCTGTC 0.622000 5 34 0 0 1 0 0 MCM10 55388 broad.mit.edu 37 10 13213117 13213117 + Missense_Mutation SNP G G A rs141967915 TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr10:13213117G>A ENST00000378694.1 + 2 278 c.203G>A c.(202-204)aGa>aAa p.R68K MCM10_ENST00000484800.2_Missense_Mutation_p.R68K|MCM10_ENST00000378714.3_Missense_Mutation_p.R68K Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 68 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 GGAGAGACAAGAGACGAAAAG 0.473000 11 148 0 0 1 0 0 PGAM4 441531 broad.mit.edu 37 X 77224501 77224501 + Missense_Mutation SNP G G T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chrX:77224501G>T ENST00000458128.1 - 1 634 c.635C>A c.(634-636)aCt>aAt p.T212N ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron NM_001029891.2 NP_001025062.1 Q8N0Y7 PGAM4_HUMAN phosphoglycerate mutase family member 4 212 glycolysis 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity endometrium(2)|lung(4) 6 GGGAATACCAGTCGGCAGGTT 0.512000 13 164 6.72482e-11 7.49119e-11 1 1 0 PLK1S1 55857 broad.mit.edu 37 20 21209729 21209729 + RNA SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr20:21209729G>C ENST00000457464.1 + 0 1356 Q2M2Z5 KIZ_HUMAN polo-like kinase 1 substrate 1 spindle organization centrosome protein kinase binding TCAAAAGACAGATGCTTCTGT 0.463000 4 30 0 0 1 0 0 KCNA1 3736 broad.mit.edu 37 12 5020587 5020587 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr12:5020587G>A ENST00000382545.3 + 2 1150 c.43G>A c.(43-45)Gcc>Acc p.A15T KCNA1_ENST00000543874.2_Intron NM_000217.2 NP_000208.2 Q09470 KCNA1_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) 15 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity p.A15P(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) GGCTTCGGCCGCCCCGGGCCA 0.711000 3 28 0 0 1 0 0 VSTM2L 128434 broad.mit.edu 37 20 36560081 36560081 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr20:36560081G>A ENST00000373461.4 + 2 413 c.166G>A c.(166-168)Gag>Aag p.E56K VSTM2L_ENST00000373459.4_Intron|VSTM2L_ENST00000373458.3_Missense_Mutation_p.E56K NM_080607.2 NP_542174.1 Q96N03 VTM2L_HUMAN V-set and transmembrane domain containing 2 like 56 Ig-like. central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1) 8 Myeloproliferative disorder(115;0.00878) ACGGACGGGCGAGGACGTGGA 0.637000 39 91 0 0 1 0 0 LY9 4063 broad.mit.edu 37 1 160786645 160786645 + Missense_Mutation SNP T T A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:160786645T>A ENST00000368037.5 + 5 1448 c.1334T>A c.(1333-1335)aTc>aAc p.I445N LY9_ENST00000263285.6_Missense_Mutation_p.I445N|LY9_ENST00000368041.2_Intron|LY9_ENST00000392203.4_Intron|LY9_ENST00000341032.4_Intron|LY9_ENST00000368040.1_Missense_Mutation_p.I97N NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 Ig-like C2-type 2. cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TCTGAGAACATCTGTTCAGGT 0.478000 8 49 0 0 1 0 0 OXNAD1 92106 broad.mit.edu 37 3 16345055 16345055 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr3:16345055G>C ENST00000285083.5 + 9 1390 c.925G>C c.(925-927)Gag>Cag p.E309Q OXNAD1_ENST00000435829.2_Missense_Mutation_p.E327Q|OXNAD1_ENST00000606098.1_Missense_Mutation_p.E308Q|OXNAD1_ENST00000544043.1_Missense_Mutation_p.E327Q|OXNAD1_ENST00000605932.1_Missense_Mutation_p.E309Q NM_138381.3 NP_612390.1 Q96HP4 OXND1_HUMAN oxidoreductase NAD-binding domain containing 1 309 oxidoreductase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2) 13 CATTTGCTTTGAGAAGTGGTG 0.403000 4 36 0 0 1 0 0 ALG1L2 644974 broad.mit.edu 37 3 129813257 129813257 + RNA SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr3:129813257C>G ENST00000507643.1 + 0 403 C9J202 AG1L2_HUMAN biosynthetic process transferase activity, transferring glycosyl groups CAAAGGGCCTCTGAGGGAGTA 0.602000 6 41 0 0 1 0 0 TTLL12 23170 broad.mit.edu 37 22 43575866 43575866 + Silent SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr22:43575866C>G ENST00000216129.6 - 4 750 c.687G>C c.(685-687)ctG>ctC p.L229L NM_015140.3 NP_055955.1 Q14166 TTL12_HUMAN tubulin tyrosine ligase-like family, member 12 229 protein modification process tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 13 Ovarian(80;0.221)|Glioma(61;0.222) CCAGGTCCCTCAGGGGCCACA 0.662000 4 22 0 0 1 0 0 ZNF85 7639 broad.mit.edu 37 19 21131734 21131734 + Silent SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr19:21131734C>T ENST00000601023.1 + 2 883 c.237C>T c.(235-237)ctC>ctT p.L79L ZNF85_ENST00000345030.6_Silent_p.L105L|ZNF85_ENST00000328178.8_Silent_p.L138L Q03923 ZNF85_HUMAN zinc finger protein 85 138 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2) 20 ACCAATGTCTCACAGCTACCC 0.323000 5 98 0 0 1 0 0 ZBTB41 360023 broad.mit.edu 37 1 197169432 197169432 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:197169432G>C ENST00000367405.4 - 1 240 c.172C>G c.(172-174)Cca>Gca p.P58A ZBTB41_ENST00000467322.1_5'UTR NM_194314.2 NP_919290.2 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 58 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 40 CTCTGATCTGGAGAGGGAGGA 0.388000 4 40 0 0 1 0 0 FAM86B1 85002 broad.mit.edu 37 8 12042882 12042882 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr8:12042882C>T ENST00000321602.8 - 3 445 c.211G>A c.(211-213)Gaa>Aaa p.E71K FAM86B1_ENST00000533852.2_Intron|FAM86B1_ENST00000448228.2_Intron|FAM86B1_ENST00000534520.1_3'UTR Q8N7N1 F86B1_HUMAN family with sequence similarity 86, member B1 0 kidney(1)|prostate(1)|stomach(1) 3 STAD - Stomach adenocarcinoma(15;0.033) COAD - Colon adenocarcinoma(149;0.0965) CGTGGGGGTTCACCTAGCTCG 0.642000 9 46 0 0 1 0 0 OR4K5 79317 broad.mit.edu 37 14 20389033 20389033 + Missense_Mutation SNP G G A rs151215030 TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr14:20389033G>A ENST00000315915.4 + 1 293 c.268G>A c.(268-270)Gag>Aag p.E90K NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 90 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GAGTGCACACGAGACCATATC 0.428000 39 280 0 0 1 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 8 73 0 0 1 0 0 TENC1 23371 broad.mit.edu 37 12 53454336 53454336 + Missense_Mutation SNP A A G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr12:53454336A>G ENST00000314250.6 + 19 3055 c.2765A>G c.(2764-2766)gAa>gGa p.E922G TENC1_ENST00000314276.3_Missense_Mutation_p.E932G|TENC1_ENST00000549700.1_Missense_Mutation_p.E857G|TENC1_ENST00000451358.1_Missense_Mutation_p.E912G|TENC1_ENST00000546602.1_Missense_Mutation_p.E825G|TENC1_ENST00000552570.1_Missense_Mutation_p.E922G|TENC1_ENST00000379902.3_Missense_Mutation_p.E798G NM_170754.2 NP_736610.2 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase (tensin 2) 922 Pro-rich. 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 CAGGGCAAGGAAAGGTATGCA 0.617000 6 35 0 0 1 0 0 AMER1 139285 broad.mit.edu 37 X 63411958 63411958 + Silent SNP A A G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chrX:63411958A>G ENST00000330258.3 - 2 1481 c.1209T>C c.(1207-1209)gaT>gaC p.D403D AMER1_ENST00000403336.1_Silent_p.D403D|AMER1_ENST00000374869.3_Silent_p.D403D NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) CTAAGTCATCAtcttcttcct 0.507000 11 37 0 0 1 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73184366 73184366 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr4:73184366C>G ENST00000286657.4 - 10 1444 c.1408G>C c.(1408-1410)Gaa>Caa p.E470Q NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 470 Disintegrin. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CCAGGAAGTTCTGGGAGTTTA 0.378000 6 55 0 0 1 0 0 ADNP 23394 broad.mit.edu 37 20 49508334 49508334 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr20:49508334C>G ENST00000396029.3 - 5 3484 c.2917G>C c.(2917-2919)Gag>Cag p.E973Q ADNP_ENST00000349014.3_Missense_Mutation_p.E973Q|ADNP_ENST00000396032.3_Missense_Mutation_p.E973Q|ADNP_ENST00000371602.4_Missense_Mutation_p.E973Q NM_001282531.1|NM_015339.2 NP_001269460.1|NP_056154.1 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector homeobox 973 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2) 39 GGCCCACTCTCAGATGGAGAA 0.478000 10 168 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109617040 109617040 + Missense_Mutation SNP A A C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr12:109617040A>C ENST00000338432.7 + 10 1704 c.1585A>C c.(1585-1587)Aag>Cag p.K529Q ACACB_ENST00000377848.3_Missense_Mutation_p.K529Q|ACACB_ENST00000543080.1_3'UTR|ACACB_ENST00000377854.5_Missense_Mutation_p.K529Q O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 529 ATP-grasp.|Biotin carboxylation. 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 cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|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) GCGGCATCAGAAGATCGTTGA 0.592000 5 18 0 0 1 0 0 FRMD5 84978 broad.mit.edu 37 15 44166532 44166532 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr15:44166532C>T ENST00000417257.1 - 14 1440 c.1264G>A c.(1264-1266)Gag>Aag p.E422K FRMD5_ENST00000484674.1_Missense_Mutation_p.E328K|FRMD5_ENST00000402883.1_Missense_Mutation_p.E422K NM_032892.3 NP_116281.2 Q7Z6J6 FRMD5_HUMAN FERM domain containing 5 422 cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275) all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06) CTGTAGGCCTCGTCTGCAATC 0.597000 9 38 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30745886 30745886 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr16:30745886G>A ENST00000262518.4 + 31 7064 c.6679G>A c.(6679-6681)Gaa>Aaa p.E2227K SRCAP_ENST00000395059.2_Missense_Mutation_p.E2165K|SRCAP_ENST00000344771.4_Missense_Mutation_p.E2069K NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2227 Glu-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CTCTGCCCCTGAAGAGGAGGA 0.498000 9 75 0 0 1 0 0 MKNK1 8569 broad.mit.edu 37 1 47028503 47028503 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:47028503C>T ENST00000371946.4 - 11 944 c.781G>A c.(781-783)Gaa>Aaa p.E261K MKNK1_ENST00000371944.4_Missense_Mutation_p.E125K|MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000371945.4_Missense_Mutation_p.E220K|MKNK1_ENST00000428112.2_Missense_Mutation_p.E220K|MKNK1_ENST00000341183.5_Missense_Mutation_p.E220K NM_003684.5 NP_003675.2 Q9BUB5 MKNK1_HUMAN MAP kinase interacting serine/threonine kinase 1 261 Protein kinase. intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 13 Acute lymphoblastic leukemia(166;0.155) GCCATGTATTCTGCAGAGCCA 0.592000 5 16 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21075610 21075610 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr22:21075610C>G ENST00000255882.6 - 43 5178 c.5092G>C c.(5092-5094)Gat>Cat p.D1698H PI4KA_ENST00000572273.1_Missense_Mutation_p.D1640H|PI4KA_ENST00000414196.3_Missense_Mutation_p.D450H NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 1640 Pleckstrin homology (PH) domain conferring phosphoinositide binding specificity (By similarity). phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) CCCTCTTCATCTAGATAAATG 0.512000 10 37 0 0 1 0 0 MCM10 55388 broad.mit.edu 37 10 13213092 13213092 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr10:13213092G>A ENST00000378694.1 + 2 253 c.178G>A c.(178-180)Gat>Aat p.D60N MCM10_ENST00000484800.2_Missense_Mutation_p.D60N|MCM10_ENST00000378714.3_Missense_Mutation_p.D60N Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 60 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 AGAAGAGGCTGATGATGGAGA 0.468000 21 184 0 0 1 0 0 FZD8 8325 broad.mit.edu 37 10 35928822 35928822 + Silent SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr10:35928822C>T ENST00000374694.1 - 1 1540 c.1536G>A c.(1534-1536)tcG>tcA p.S512S NM_031866.2 NP_114072.1 Q9H461 FZD8_HUMAN frizzled family receptor 8 512 axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development cell projection|Golgi apparatus|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 11 GCTTGATGACCGAGCGGATGC 0.642000 5 29 0 0 1 0 0 GOLGB1 2804 broad.mit.edu 37 3 121396153 121396153 + Silent SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr3:121396153G>C ENST00000393667.3 - 16 9128 c.9018C>G c.(9016-9018)ctC>ctG p.L3006L GOLGB1_ENST00000340645.5_Silent_p.L3001L NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 3001 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) ATTGCACTTTGAGAGGCTGAG 0.373000 6 57 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117835997 117835997 + Missense_Mutation SNP T T A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr9:117835997T>A ENST00000350763.4 - 10 3510 c.3099A>T c.(3097-3099)agA>agT p.R1033S TNC_ENST00000346706.3_Missense_Mutation_p.R1033S|TNC_ENST00000341037.4_Missense_Mutation_p.R1033S|TNC_ENST00000345230.3_Missense_Mutation_p.R1033S|TNC_ENST00000423613.2_Missense_Mutation_p.R1033S|TNC_ENST00000537320.1_Missense_Mutation_p.R1033S|TNC_ENST00000340094.3_Missense_Mutation_p.R1033S|TNC_ENST00000535648.1_Missense_Mutation_p.R1033S|TNC_ENST00000542877.1_Missense_Mutation_p.R1033S NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1033 Fibronectin type-III 5. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 AAGTGGTGTTTCTTGGAAGCT 0.572000 7 38 0 0 1 0 0 ACAP1 9744 broad.mit.edu 37 17 7245741 7245741 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr17:7245741C>G ENST00000158762.3 + 5 498 c.292C>G c.(292-294)Cta>Gta p.L98V ACAP1_ENST00000573893.1_3'UTR NM_014716.3 NP_055531.1 Q15027 ACAP1_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 98 BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 TCAGGAGCTTCTAGATGCCAC 0.582000 7 36 0 0 1 0 0 OR4N2 390429 broad.mit.edu 37 14 20295790 20295790 + Missense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr14:20295790C>G ENST00000568211.1 + 1 183 c.183C>G c.(181-183)ttC>ttG p.F61L OR4N2_ENST00000315947.1_Missense_Mutation_p.F61L Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 61 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CCCTCTATTTCTTTCTGGGCA 0.458000 30 255 0 0 1 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140763839 140763839 + Nonsense_Mutation SNP C C G TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr5:140763839C>G ENST00000518325.1 + 1 1373 c.1373C>G c.(1372-1374)tCa>tGa p.S458* PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCATCCTACTCAGTCTACATC 0.517000 5 57 0 0 1 0 0 CAGE1 285782 broad.mit.edu 37 6 7378960 7378960 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr6:7378960G>C ENST00000502583.1 - 4 1141 c.577C>G c.(577-579)Cta>Gta p.L193V CAGE1_ENST00000296742.7_Missense_Mutation_p.L57V|CAGE1_ENST00000338150.4_Missense_Mutation_p.L193V|CAGE1_ENST00000379918.4_Missense_Mutation_p.L193V|CAGE1_ENST00000509324.1_Intron|CAGE1_ENST00000512086.1_Missense_Mutation_p.L193V NM_001170692.1 NP_001164163.1 Q8TC20 CAGE1_HUMAN cancer antigen 1 193 breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1) 19 Ovarian(93;0.0418) CAGTGGATTAGAGGCGGGCTT 0.438000 9 39 0 0 1 0 0 GMPPB 29925 broad.mit.edu 37 3 49759695 49759695 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr3:49759695G>A ENST00000480687.1 - 8 853 c.737C>T c.(736-738)tCa>tTa p.S246L GMPPB_ENST00000308375.6_Missense_Mutation_p.S246L|AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308388.6_Missense_Mutation_p.S246L Q9Y5P6 GMPPB_HUMAN GDP-mannose pyrophosphorylase B 246 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GCCAGGGCCTGAGCACAGCCG 0.582000 8 29 0 0 1 0 0 C11orf57 55216 broad.mit.edu 37 11 111953544 111953544 + Nonsense_Mutation SNP G G T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr11:111953544G>T ENST00000532163.1 + 6 1409 c.643G>T c.(643-645)Gaa>Taa p.E215* C11orf57_ENST00000393047.3_Nonsense_Mutation_p.E244*|C11orf57_ENST00000280352.9_Nonsense_Mutation_p.E243*|C11orf57_ENST00000420986.2_Nonsense_Mutation_p.E243* Q6ZUT1 CK057_HUMAN chromosome 11 open reading frame 57 243 Lys-rich. autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 12 all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521) GGAAAGTGAGGAAAGAGACAC 0.393000 5 32 1.23904e-05 1.32007e-05 1 1 0 ANO5 203859 broad.mit.edu 37 11 22301269 22301269 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr11:22301269G>C ENST00000324559.8 + 22 3017 c.2700G>C c.(2698-2700)atG>atC p.M900I NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 900 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 AGCATGTCATGATTGAGGAAA 0.363000 14 27 0 0 1 0 0 GPD1 2819 broad.mit.edu 37 12 50498482 50498482 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr12:50498482C>T ENST00000301149.3 + 2 399 c.167C>T c.(166-168)aCg>aTg p.T56M GPD1_ENST00000547190.1_3'UTR|GPD1_ENST00000548814.1_Missense_Mutation_p.T56M NM_001257199.1|NM_005276.3 NP_001244128.1|NP_005267.2 P21695 GPDA_HUMAN glycerol-3-phosphate dehydrogenase 1 (soluble) 56 glycerol-3-phosphate catabolic process|triglyceride biosynthetic process cytosol|glycerol-3-phosphate dehydrogenase complex glycerol-3-phosphate dehydrogenase|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 NADH(DB00157) ATCATCAACACGCAGCATGAG 0.552000 9 86 0 0 1 0 0 C1orf87 127795 broad.mit.edu 37 1 60476112 60476112 + Nonsense_Mutation SNP C C A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:60476112C>A ENST00000371201.3 - 9 1251 c.1144G>T c.(1144-1146)Gag>Tag p.E382* C1orf87_ENST00000450089.2_Nonsense_Mutation_p.E153* NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 382 calcium ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GTCAGCATCTCAACAAAATTC 0.383000 9 72 0.000442599 0.000465205 1 1 0 CHFR 55743 broad.mit.edu 37 12 133428265 133428265 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr12:133428265G>C ENST00000266880.7 - 13 1527 c.1464C>G c.(1462-1464)ttC>ttG p.F488L CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000443047.2_Missense_Mutation_p.F397L|CHFR_ENST00000432561.2_Missense_Mutation_p.F489L|CHFR_ENST00000537522.1_Missense_Mutation_p.F111L|CHFR_ENST00000315585.7_Missense_Mutation_p.F448L|CHFR_ENST00000450056.2_Missense_Mutation_p.F477L Q96EP1 CHFR_HUMAN checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase 489 cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) GCATGGGCTGGAAGCAGCAGG 0.677000 10 55 0 0 1 0 0 FGD2 221472 broad.mit.edu 37 6 36979561 36979561 + Missense_Mutation SNP A A T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr6:36979561A>T ENST00000274963.8 + 4 629 c.458A>T c.(457-459)aAc>aTc p.N153I NM_173558.3 NP_775829.2 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 153 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 ATCTTCTCCAACATCTCCTCC 0.592000 3 28 0 0 1 0 0 ZNF667 63934 broad.mit.edu 37 19 56969572 56969572 + Missense_Mutation SNP C C A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr19:56969572C>A ENST00000591790.1 - 4 1633 c.205G>T c.(205-207)Ggg>Tgg p.G69W ZNF667_ENST00000342634.3_Missense_Mutation_p.G162W|ZNF667_ENST00000292069.6_Missense_Mutation_p.G69W|ZNF667_ENST00000504904.3_Missense_Mutation_p.G69W Q5HYK9 ZN667_HUMAN zinc finger protein 667 69 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 38 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) GGTGCTTTCCCTTTCTCCAAT 0.493000 10 65 4.68919e-08 5.10717e-08 1 1 0 C20orf194 25943 broad.mit.edu 37 20 3362093 3362093 + Silent SNP T T C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr20:3362093T>C ENST00000252032.9 - 3 283 c.216A>G c.(214-216)ctA>ctG p.L72L NM_001009984.2 NP_001009984.1 Q5TEA3 CT194_HUMAN chromosome 20 open reading frame 194 72 NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 39 ACAAACCAAATAGAAGATAAT 0.408000 8 91 0 0 1 0 0 EGR4 1961 broad.mit.edu 37 2 73518797 73518797 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr2:73518797G>A ENST00000436467.2 - 2 1636 c.1249C>T c.(1249-1251)Cgc>Tgc p.R417C EGR4_ENST00000545030.1_Missense_Mutation_p.R520C B7ZKU3 B7ZKU3_HUMAN early growth response 4 416 intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CTGAAGTTGCGGAGGCAGATG 0.667000 6 45 0 0 1 0 0 DHDDS 79947 broad.mit.edu 37 1 26786594 26786594 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr1:26786594G>A ENST00000360009.2 + 8 801 c.724G>A c.(724-726)Gag>Aag p.E242K DHDDS_ENST00000526219.1_Missense_Mutation_p.E203K|DHDDS_ENST00000236342.7_Missense_Mutation_p.E242K|DHDDS_ENST00000525682.2_Missense_Mutation_p.E208K NM_024887.3|NM_205861.2 NP_079163.2|NP_995583.1 Q86SQ9 DHDDS_HUMAN dehydrodolichyl diphosphate synthase 242 protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups p.E242K(1) breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1) 15 all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239) GAACCTCTTCGAGGCCATCCT 0.493000 15 76 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218712887 218712889 + In_Frame_Del DEL GCT GCT - TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr2:218712887_218712889delGCT ENST00000171887.4 - 17 2428_2430 c.1976_1978delAGC c.(1975-1980)cagcct>cct p.Q659del TNS1_ENST00000419504.1_In_Frame_Del_p.Q659del|TNS1_ENST00000430930.1_In_Frame_Del_p.Q659del NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 659 Gln-rich. cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GGTGGGCGAGgctgctgctgctg 0.660 4 9 --- --- --- --- POC5 134359 broad.mit.edu 37 5 75003590 75003590 + Frame_Shift_Del DEL A A - TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr5:75003590delA ENST00000428202.2 - 3 384 c.195delT c.(193-195)tctfs p.S65fs POC5_ENST00000504862.1_5'UTR|POC5_ENST00000446329.2_Frame_Shift_Del_p.S40fs|POC5_ENST00000380475.2_5'UTR|POC5_ENST00000510798.1_5'UTR|POC5_ENST00000514838.2_Frame_Shift_Del_p.S65fs NM_001099271.1 NP_001092741.1 Q8NA72 POC5_HUMAN POC5 centriolar protein 65 cell cycle centriole breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 CATGAATTGTAGAAATTCTGA 0.318 2 4 --- --- --- --- DLX6 1750 broad.mit.edu 37 7 96635364 96635366 + In_Frame_Del DEL GCA GCA - rs34325324 TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr7:96635364_96635366delGCA ENST00000518156.2 + 1 505_507 c.75_77delGCA c.(73-78)gggcag>ggg p.Q44del DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6_ENST00000007660.5_In_Frame_Del_p.Q31del|DLX6-AS1_ENST00000430027.3_RNA P56179 DLX6_HUMAN distal-less homeobox 6 0 nervous system development|skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) TGGAGTTCGGgcagcagcagcag 0.640 2 4 --- --- --- --- WRN 7486 broad.mit.edu 37 8 30998998 30998999 + Frame_Shift_Ins INS - - CAAGGAT TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr8:30998998_30998999insCAAGGAT ENST00000298139.5 + 25 3269_3270 c.3020_3021insCAAGGAT c.(3019-3024)ggcaagfs p.-1010fs NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) TTTGGCACTGGCAAGGATCAAA 0.376 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 8 92 --- --- --- --- RGS22 26166 broad.mit.edu 37 8 100990176 100990177 + Frame_Shift_Ins INS - - G rs7841915 by1000genomes TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr8:100990176_100990177insG ENST00000360863.6 - 23 3681_3682 c.3487_3488insC c.(3487-3489)ttgfs p.L1163fs RGS22_ENST00000523437.1_Frame_Shift_Ins_p.L1151fs|RGS22_ENST00000523287.1_Frame_Shift_Ins_p.L982fs NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 1163 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) TAGGACTGCCAATTTTTTTTTC 0.312 8 402 --- --- --- --- RGS22 26166 broad.mit.edu 37 8 100990178 100990178 + Frame_Shift_Del DEL T T - TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr8:100990178delT ENST00000360863.6 - 23 3680 c.3486delA c.(3484-3486)aaafs p.K1162fs RGS22_ENST00000523437.1_Frame_Shift_Del_p.K1150fs|RGS22_ENST00000523287.1_Frame_Shift_Del_p.K981fs NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 1162 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) GGACTGCCAATTTTTTTTTCT 0.313 8 401 --- --- --- --- USP2-AS1 100499227 broad.mit.edu 37 11 119274142 119274142 + RNA DEL T T - rs66493459 TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr11:119274142delT ENST00000498979.2 + 0 273 USP2-AS1_ENST00000500970.1_RNA|USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000577297.1_RNA NR_034160.1 AGTGTTTAAGttttttttttt 0.343 2 4 --- --- --- --- ZNF878 729747 broad.mit.edu 37 19 12167098 12167098 + Frame_Shift_Del DEL C C - TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr19:12167098delC ENST00000602107.1 - 1 29 c.30delG c.(28-30)gggfs p.G10fs C9JN71 ZN878_HUMAN zinc finger protein 878 0 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 AAAGGTACAACCCCAGATAGG 0.547 2 4 --- --- --- --- ZNF45 7596 broad.mit.edu 37 19 44418711 44418711 + Frame_Shift_Del DEL C C - TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr19:44418711delC ENST00000269973.5 - 10 1967 c.877delG c.(877-879)gttfs p.V293fs ZNF45_ENST00000589703.1_Frame_Shift_Del_p.V293fs|RP11-15A1.2_ENST00000586247.1_RNA NM_003425.3 NP_003416.1 Q02386 ZNF45_HUMAN zinc finger protein 45 293 multicellular organismal development nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 17 TTCAGATGAACTTGAAGATAT 0.458 16 88 --- --- --- --- RIPK4 54101 broad.mit.edu 37 21 43165934 43165935 + Frame_Shift_Ins INS - - G rs144324321 TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37e1e847-4705-47f1-a991-da03d4841fdb 03166753-067b-4d05-a297-aca7c46ce2ca g.chr21:43165934_43165935insG ENST00000352483.2 - 7 1128_1129 c.1064_1065insC c.(1063-1065)ccgfs p.P355fs RIPK4_ENST00000542057.1_Frame_Shift_Ins_p.P244fs|RIPK4_ENST00000332512.3_Frame_Shift_Ins_p.P307fs|RIPK4_ENST00000544709.1_Frame_Shift_Ins_p.P244fs Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 307 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 TCCTGGGCTCCGGGGGGCTTTT 0.535 21 80 --- --- --- ---