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 WHAMMP3 339005 broad.mit.edu 37 15 23205094 23205094 + RNA SNP G G A TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr15:23205094G>A ENST00000400153.2 - 0 760 NR_003521.1 AGTACTGGAAGAACGTGGTTG 0.373000 4 23 0 0 1 0 0 DSPP 1834 broad.mit.edu 37 4 88535050 88535050 + Silent SNP C C T TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr4:88535050C>T ENST00000399271.1 + 5 1356 c.1236C>T c.(1234-1236)ggC>ggT p.G412G RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Silent_p.G412G NM_014208.3 NP_055023.2 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein 412 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) TGGGCAAAGGCAATGTCAAGA 0.443000 11 65 0 0 1 0 0 PTGDR 5729 broad.mit.edu 37 14 52735009 52735009 + Silent SNP C C T TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr14:52735009C>T ENST00000306051.2 + 1 579 c.477C>T c.(475-477)ttC>ttT p.F159F PTGDR_ENST00000553372.1_Silent_p.F159F NM_000953.2 NP_000944.1 Q13258 PD2R_HUMAN prostaglandin D2 receptor (DP) 159 integral to membrane|plasma membrane prostaglandin D receptor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Breast(41;0.0639)|all_epithelial(31;0.0887) Nedocromil(DB00716) TGAGCGCCTTCTCCCTGGCTT 0.637000 4 108 0 0 1 0 0 ATP8B1 5205 broad.mit.edu 37 18 55368320 55368320 + Missense_Mutation SNP T T C TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr18:55368320T>C ENST00000536015.1 - 6 624 c.505A>G c.(505-507)Atg>Gtg p.M169V RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.M169V|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000589147.1_5'UTR NM_005603.4 NP_005594.1 O43520 AT8B1_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 1 169 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) TCCTTATCCATTTTATGGCGA 0.393000 27 121 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579592 7579592 + Splice_Site SNP T T A TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr17:7579592T>A ENST00000420246.2 - 4 229 c.e4-2 TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.?(15)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CAAGGGGGACTGTAGATGGGT 0.597000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 6 232 0 0 1 0 0 CD1E 913 broad.mit.edu 37 1 158326628 158326628 + Missense_Mutation SNP C C T TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr1:158326628C>T ENST00000444681.2 + 5 1105 c.812C>T c.(811-813)tCg>tTg p.S271L CD1E_ENST00000368155.3_Missense_Mutation_p.S213L|CD1E_ENST00000368154.1_Missense_Mutation_p.S126L|CD1E_ENST00000368157.1_Missense_Mutation_p.S114L|CD1E_ENST00000368166.3_Missense_Mutation_p.S169L|CD1E_ENST00000368163.3_Missense_Mutation_p.S303L|CD1E_ENST00000368167.3_Missense_Mutation_p.S370L|CD1E_ENST00000368165.3_Missense_Mutation_p.S280L|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368160.3_Missense_Mutation_p.S358L|CD1E_ENST00000452291.2_Missense_Mutation_p.S181L|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368156.1_Missense_Mutation_p.S268L NM_001185114.1 NP_001172043.1 P15812 CD1E_HUMAN CD1e molecule 370 Ig-like. antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) GCACAAGTATCGTGGATCAAA 0.438000 10 112 0 0 1 0 0 IGSF11 152404 broad.mit.edu 37 3 118624539 118624539 + Missense_Mutation SNP G G A TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr3:118624539G>A ENST00000354673.2 - 7 984 c.604C>T c.(604-606)Cgg>Tgg p.R202W IGSF11_ENST00000491903.1_Missense_Mutation_p.R203W|IGSF11_ENST00000425327.2_Missense_Mutation_p.R202W|IGSF11_ENST00000441144.2_Missense_Mutation_p.R202W|IGSF11_ENST00000489689.1_Missense_Mutation_p.R203W|IGSF11_ENST00000393775.2_Missense_Mutation_p.R203W NM_152538.2 NP_689751.2 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 203 Ig-like C2-type. cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity p.R202W(2)|p.R203W(1) autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CTGATGTTCCGGATGGTGACT 0.473000 13 65 0 0 1 0 0 WHAMMP3 339005 broad.mit.edu 37 15 23205098 23205098 + RNA SNP G G A rs146035894 by1000genomes TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr15:23205098G>A ENST00000400153.2 - 0 756 NR_003521.1 CTGGAAGAACGTGGTTGCCAC 0.373000 4 23 0 0 1 0 0 SLC16A4 9122 broad.mit.edu 37 1 110931878 110931878 + Missense_Mutation SNP A A G TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr1:110931878A>G ENST00000369779.4 - 2 317 c.68T>C c.(67-69)aTt>aCt p.I23T SLC16A4_ENST00000541986.1_Silent_p.D5D|SLC16A4_ENST00000369781.4_Missense_Mutation_p.I23T|SLC16A4_ENST00000437429.2_Silent_p.D5D|SLC16A4_ENST00000472422.2_Missense_Mutation_p.I23T|SLC16A4_ENST00000497687.1_5'UTR|LAMTOR5-AS1_ENST00000590413.1_RNA NM_001201547.1|NM_004696.2 NP_001188476.1|NP_004687.1 O15374 MOT5_HUMAN solute carrier family 16, member 4 23 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2) 16 all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14) Pyruvic acid(DB00119) ATGAATCACAATCATCCATCC 0.448000 26 140 0 0 1 0 0 WDR83 84292 broad.mit.edu 37 19 12781579 12781579 + Missense_Mutation SNP T T A TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr19:12781579T>A ENST00000418543.3 + 7 799 c.450T>A c.(448-450)gaT>gaA p.D150E WDR83OS_ENST00000596731.1_5'UTR|WDR83OS_ENST00000600694.1_5'UTR|WDR83_ENST00000242796.4_Missense_Mutation_p.D150E NM_001099737.2 NP_001093207.1 Q9BRX9 WDR83_HUMAN WD repeat domain 83 150 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|cytoplasm breast(2)|large_intestine(1)|lung(1) 4 AGACGCTGGATGAGGCCAGAG 0.607000 5 33 0 0 1 0 0 WHAMMP3 339005 broad.mit.edu 37 15 23205108 23205108 + RNA SNP C C T TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr15:23205108C>T ENST00000400153.2 - 0 746 NR_003521.1 GTGGTTGCCACGGTAACTAAT 0.393000 4 22 0 0 1 0 0 HDAC5 10014 broad.mit.edu 37 17 42156002 42156002 + Silent SNP G G A TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr17:42156002G>A ENST00000225983.6 - 26 3521 c.3198C>T c.(3196-3198)gcC>gcT p.A1066A HDAC5_ENST00000336057.5_Silent_p.A980A|HDAC5_ENST00000393622.2_Silent_p.A1065A|HDAC5_ENST00000586802.1_Silent_p.A1065A Q9UQL6 HDAC5_HUMAN histone deacetylase 5 1065 B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 21 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) CCAGACCAGCGGCGAACTTCT 0.657000 30 253 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41550269 41550269 + Missense_Mutation SNP C C T TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr8:41550269C>T ENST00000396942.1 - 31 3838 c.3755G>A c.(3754-3756)cGa>cAa p.R1252Q ANK1_ENST00000396945.1_Missense_Mutation_p.R1252Q|ANK1_ENST00000379758.2_Missense_Mutation_p.R1252Q|ANK1_ENST00000289734.7_Missense_Mutation_p.R1252Q|ANK1_ENST00000265709.8_Missense_Mutation_p.R1293Q|ANK1_ENST00000347528.4_Missense_Mutation_p.R1252Q|ANK1_ENST00000352337.4_Missense_Mutation_p.R1252Q P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1252 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GCGCCCCTCTCGGGGGTCATT 0.552000 9 319 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16257187 16257187 + Missense_Mutation SNP C C A TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr1:16257187C>A ENST00000375759.3 + 11 4656 c.4452C>A c.(4450-4452)gaC>gaA p.D1484E NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 1484 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|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;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) AAAAGGTTGACTCTGCTCCAA 0.373000 9 80 3.86212e-05 4.20542e-05 1 1 0 BMS1P20 96610 broad.mit.edu 37 22 22664743 22664743 + RNA SNP G G A TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr22:22664743G>A ENST00000426066.1 + 0 924 NR_027293.1 CAGACTAAAGGCAAACAAGGA 0.498000 4 54 0 0 1 0 0 COL13A1 1305 broad.mit.edu 37 10 71690203 71690203 + Silent SNP C C A TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr10:71690203C>A ENST00000356340.3 + 28 2081 c.1545C>A c.(1543-1545)ggC>ggA p.G515G COL13A1_ENST00000520267.1_Silent_p.G458G|COL13A1_ENST00000398969.3_Silent_p.G458G|COL13A1_ENST00000357811.3_Silent_p.G493G|COL13A1_ENST00000398972.3_Silent_p.G515G|COL13A1_ENST00000517713.1_Silent_p.G493G|COL13A1_ENST00000398974.3_Silent_p.G503G|COL13A1_ENST00000398978.3_Silent_p.G515G|COL13A1_ENST00000398966.3_Silent_p.G493G|COL13A1_ENST00000522165.1_Silent_p.G496G|COL13A1_ENST00000398964.3_Silent_p.G486G|COL13A1_ENST00000398973.3_Silent_p.G515G|COL13A1_ENST00000520133.1_Silent_p.G464G|COL13A1_ENST00000398971.3_Silent_p.G515G|COL13A1_ENST00000398968.3_Silent_p.G496G|COL13A1_ENST00000354547.3_Silent_p.G493G Q5TAT6 CODA1_HUMAN collagen, type XIII, alpha 1 515 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) GTCCCCAAGGCCCCCCAGGAA 0.552000 8 38 5.18039e-06 5.76907e-06 1 1 0 DAB2IP 153090 broad.mit.edu 37 9 124528949 124528949 + Missense_Mutation SNP G G A TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr9:124528949G>A ENST00000408936.3 + 9 1819 c.1637G>A c.(1636-1638)cGc>cAc p.R546H DAB2IP_ENST00000259371.2_Missense_Mutation_p.R518H|DAB2IP_ENST00000309989.1_Missense_Mutation_p.R422H Q5VWQ8 DAB2P_HUMAN DAB2 interacting protein 546 Ras-GAP. activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 CCTGATGACCGCACTGCCCGC 0.627000 5 153 0 0 1 0 0 AGAP6 414189 broad.mit.edu 37 10 51754179 51754179 + Missense_Mutation SNP G G A TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr10:51754179G>A ENST00000374056.4 + 3 715 c.317G>A c.(316-318)tGt>tAt p.C106Y AGAP6_ENST00000412531.3_Missense_Mutation_p.C129Y C9IYN2 C9IYN2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 129 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2) 29 AGAAGCAACTGTACAAACCAT 0.284000 5 148 0 0 1 0 0 CHD2 1106 broad.mit.edu 37 15 93518176 93518176 + Missense_Mutation SNP C C G TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr15:93518176C>G ENST00000394196.4 + 20 3641 c.2573C>G c.(2572-2574)tCt>tGt p.S858C CHD2_ENST00000557381.1_Missense_Mutation_p.S858C NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 858 Helicase C-terminal. regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) GCAGATGGGTCTGAGGTATAC 0.413000 14 96 0 0 1 0 0 GPR125 166647 broad.mit.edu 37 4 22390104 22390104 + Nonsense_Mutation SNP C C A TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr4:22390104C>A ENST00000334304.5 - 19 3459 c.3190G>T c.(3190-3192)Gga>Tga p.G1064* GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 1064 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) GAGCTCCGTCCTGGGCAGCAA 0.517000 12 45 6.40141e-05 6.81889e-05 1 1 0 SCN11A 11280 broad.mit.edu 37 3 38938441 38938441 + Silent SNP G G A TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr3:38938441G>A ENST00000302328.3 - 14 2496 c.2298C>T c.(2296-2298)tgC>tgT p.C766C SCN11A_ENST00000444237.2_Silent_p.C766C|SCN11A_ENST00000456224.3_Silent_p.C766C|SCN11A_ENST00000450244.1_Silent_p.C766C NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 766 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TCCATTCCCCGCAGAGGATGC 0.468000 7 55 0 0 1 0 0 ZNF365 22891 broad.mit.edu 37 10 64382885 64382885 + Missense_Mutation SNP A A T TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr10:64382885A>T ENST00000410046.3 + 5 1284 c.1004A>T c.(1003-1005)cAt>cTt p.H335L ZNF365_ENST00000395251.1_Intron NM_199451.2 NP_955523.1 Q70YC4 TALAN_HUMAN zinc finger protein 365 152 breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Prostate(12;0.0297)|all_hematologic(501;0.228) ATAAACCACCATCTTTCGGGG 0.373000 35 239 0 0 1 0 0 PPM1A 5494 broad.mit.edu 37 14 60752348 60752348 + Nonsense_Mutation SNP C C T TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr14:60752348C>T ENST00000395076.4 + 3 1271 c.841C>T c.(841-843)Cga>Tga p.R281* PPM1A_ENST00000325642.3_Nonsense_Mutation_p.R354*|PPM1A_ENST00000325658.3_Nonsense_Mutation_p.R281*|PPM1A_ENST00000529574.1_Nonsense_Mutation_p.R281* NM_021003.4 NP_066283.1 P35813 PPM1A_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1A 281 cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway cytosol|nucleus|protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(108;0.046) CCAGGGAAGTCGAGACAACAT 0.398000 5 82 0 0 1 0 0 CAMSAP3 57662 broad.mit.edu 37 19 7670214 7670214 + Missense_Mutation SNP A A G TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr19:7670214A>G ENST00000446248.2 + 2 352 c.251A>G c.(250-252)tAc>tGc p.Y84C CAMSAP3_ENST00000160298.4_Missense_Mutation_p.Y84C NM_001080429.2 NP_001073898.1 Q9P1Y5 CAMP3_HUMAN calmodulin regulated spectrin-associated protein family, member 3 84 epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 GCCGAGCTCTACTGCAGAGCC 0.667000 23 122 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78604218 78604218 + Missense_Mutation SNP C C T TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr12:78604218C>T ENST00000397909.2 + 40 7252 c.7079C>T c.(7078-7080)tCg>tTg p.S2360L NAV3_ENST00000536525.2_Missense_Mutation_p.S2338L|NAV3_ENST00000541270.1_Missense_Mutation_p.S190L|NAV3_ENST00000228327.6_Missense_Mutation_p.S2338L|NAV3_ENST00000266692.7_Missense_Mutation_p.S2161L Q8IVL0 NAV3_HUMAN neuron navigator 3 2360 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 GCCAATTACTCGAGCACACAA 0.423000 HNSCC(70;0.22) 13 92 0 0 1 0 0 SPATA20 64847 broad.mit.edu 37 17 48628464 48628464 + Missense_Mutation SNP C C T TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr17:48628464C>T ENST00000006658.6 + 12 1609 c.1489C>T c.(1489-1491)Ctc>Ttc p.L497F SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Missense_Mutation_p.L437F|SPATA20_ENST00000356488.4_Missense_Mutation_p.L481F NM_022827.3 NP_073738.2 Q8TB22 SPT20_HUMAN spermatogenesis associated 20 481 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) GCGGACCTTGCTCAATTCAGG 0.637000 OREG0024568 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 43 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 163032513 163032513 + Silent SNP T T A TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr4:163032513T>A ENST00000306100.5 - 2 472 c.36A>T c.(34-36)ggA>ggT p.G12G FSTL5_ENST00000379164.4_Silent_p.G12G|FSTL5_ENST00000427802.2_Silent_p.G12G|FSTL5_ENST00000536695.1_Silent_p.G12G NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 12 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) GAAAAATGAATCCGAGAACCA 0.378000 5 70 0 0 1 0 0 SAG 6295 broad.mit.edu 37 2 234243614 234243614 + Silent SNP A A G TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr2:234243614A>G ENST00000409110.1 + 11 1043 c.813A>G c.(811-813)aaA>aaG p.K271K SAG_ENST00000449594.2_Silent_p.K137K NM_000541.4 NP_000532.2 P10523 ARRS_HUMAN S-antigen; retina and pineal gland (arrestin) 271 rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) CTAGAGAAAAAGTGCCACCAA 0.488000 16 95 0 0 1 0 0 GNA14 9630 broad.mit.edu 37 9 80144052 80144052 + Missense_Mutation SNP G G A TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr9:80144052G>A ENST00000341700.6 - 2 755 c.242C>T c.(241-243)aCc>aTc p.T81I NM_004297.3 NP_004288.1 O95837 GNA14_HUMAN guanine nucleotide binding protein (G protein), alpha 14 81 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 24 TTGCATGGCGGTGAATATGTT 0.453000 5 321 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 163032514 163032514 + Missense_Mutation SNP C C T TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr4:163032514C>T ENST00000306100.5 - 2 471 c.35G>A c.(34-36)gGa>gAa p.G12E FSTL5_ENST00000379164.4_Missense_Mutation_p.G12E|FSTL5_ENST00000427802.2_Missense_Mutation_p.G12E|FSTL5_ENST00000536695.1_Missense_Mutation_p.G12E NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 12 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) AAAAATGAATCCGAGAACCAA 0.378000 5 71 0 0 1 0 0 CHRNA9 55584 broad.mit.edu 37 4 40351422 40351422 + Missense_Mutation SNP C C T TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr4:40351422C>T ENST00000310169.2 + 4 1028 c.889C>T c.(889-891)Ccc>Tcc p.P297S NM_017581.3 NP_060051.2 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 (neuronal) 297 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) AGAAAATGTGCCCCTGATAGG 0.498000 4 146 0 0 1 0 0 DENND5B 160518 broad.mit.edu 37 12 31604900 31604900 + Missense_Mutation SNP G G A TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr12:31604900G>A ENST00000389082.5 - 5 1867 c.1603C>T c.(1603-1605)Cgg>Tgg p.R535W DENND5B_ENST00000306833.6_Missense_Mutation_p.R570W|DENND5B_ENST00000354285.4_Missense_Mutation_p.R557W|DENND5B_ENST00000536562.1_Missense_Mutation_p.R570W NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 535 dDENN. integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 ATCTGTTCCCGGTTGGTCAGC 0.378000 9 52 0 0 1 0 0 KL 9365 broad.mit.edu 37 13 33638061 33638061 + Missense_Mutation SNP G G T TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr13:33638061G>T ENST00000380099.3 + 5 2785 c.2777G>T c.(2776-2778)gGc>gTc p.G926V KL_ENST00000487852.1_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 926 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) CCGAGGTTTGGCCTCTATCGT 0.458000 26 148 3.6726e-16 4.18506e-16 1 1 0 TTN 7273 broad.mit.edu 37 2 179453918 179453918 + Missense_Mutation SNP G G A TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr2:179453918G>A ENST00000589042.1 - 304 62758 c.62534C>T c.(62533-62535)aCg>aTg p.T20845M TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T18277M|TTN_ENST00000342175.6_Missense_Mutation_p.T11972M|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T11780M|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T11905M|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T19204M|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19204 Fibronectin type-III 51. 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) GTTAGTTGCCGTAACTACATA 0.413000 14 102 0 0 1 0 0 MET 4233 broad.mit.edu 37 7 116397793 116397793 + Missense_Mutation SNP C C A TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr7:116397793C>A ENST00000397752.3 + 8 2267 c.2067C>A c.(2065-2067)caC>caA p.H689Q MET_ENST00000318493.6_Missense_Mutation_p.H689Q|MET_ENST00000436117.2_Missense_Mutation_p.H689Q NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 689 IPT/TIG 2. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) ATTCTAGACACATTTCAATTG 0.313000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 23 131 1.55469e-16 1.81381e-16 1 1 0 STXBP4 252983 broad.mit.edu 37 17 53156045 53156045 + Splice_Site SNP A A T TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr17:53156045A>T ENST00000376352.2 + 15 1512 c.e15-1 STXBP4_ENST00000434978.2_Splice_Site NM_178509.5 NP_848604.3 Q6ZWJ1 STXB4_HUMAN syntaxin binding protein 4 cytoplasm calcium ion binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 GTTTGTTGCTAGGCTATTCAA 0.289000 5 59 0 0 1 0 0 WNK3 65267 broad.mit.edu 37 X 54276495 54276495 + Missense_Mutation SNP C C T TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chrX:54276495C>T ENST00000354646.2 - 16 3083 c.2645G>A c.(2644-2646)cGt>cAt p.R882H WNK3_ENST00000375159.2_Missense_Mutation_p.R882H|WNK3_ENST00000375169.3_Missense_Mutation_p.R882H NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 882 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 CTGAGTCTCACGGTTTCTTAT 0.463000 4 7 0 0 1 0 0 PDXDC1 23042 broad.mit.edu 37 16 15111006 15111006 + Missense_Mutation SNP A A G TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr16:15111006A>G ENST00000396410.4 + 10 939 c.842A>G c.(841-843)tAt>tGt p.Y281C PDXDC1_ENST00000563679.1_Missense_Mutation_p.Y299C|PDXDC1_ENST00000569715.1_Missense_Mutation_p.Y254C|PDXDC1_ENST00000447912.2_Missense_Mutation_p.Y190C|PDXDC1_ENST00000450288.2_Missense_Mutation_p.Y253C|PDXDC1_ENST00000535621.2_Missense_Mutation_p.Y281C|PDXDC1_ENST00000455313.2_Missense_Mutation_p.Y258C|PDXDC1_ENST00000325823.7_Missense_Mutation_p.Y266C NM_015027.2 NP_055842.2 Q6P996 PDXD1_HUMAN pyridoxal-dependent decarboxylase domain containing 1 281 carboxylic acid metabolic process carboxy-lyase activity|protein binding|pyridoxal phosphate binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) GCTCTGGGTTATGTCTCCTCA 0.358000 34 462 0 0 1 0 0 KRT10 3858 broad.mit.edu 37 17 38978344 38978344 + Missense_Mutation SNP C C T TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr17:38978344C>T ENST00000269576.5 - 1 503 c.494G>A c.(493-495)cGg>cAg p.R165Q TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron NM_000421.3 NP_000412.3 P13645 K1C10_HUMAN keratin 10 165 Coil 1A.|Gly-rich.|Rod. epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) TTCCAGAGCCCGAACTTTGTC 0.483000 19 144 0 0 1 0 0 FAM166B 730112 broad.mit.edu 37 9 35562500 35562500 + Missense_Mutation SNP G G T TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr9:35562500G>T ENST00000399742.2 - 5 686 c.616C>A c.(616-618)Ctg>Atg p.L206M FAM166B_ENST00000492890.1_5'UTR NM_001099951.2|NM_001164310.1 NP_001093421.1|NP_001157782.1 A8MTA8 F166B_HUMAN family with sequence similarity 166, member B 206 kidney(3)|large_intestine(1)|lung(4)|ovary(1) 9 AATTCCTGCAGTGCCTGGTTG 0.587000 3 10 1 1 1 1 0 ATP13A5 344905 broad.mit.edu 37 3 193042744 193042744 + Missense_Mutation SNP G G A TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr3:193042744G>A ENST00000342358.4 - 14 1700 c.1583C>T c.(1582-1584)gCg>gTg p.A528V NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 528 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) GGCCATGGCCGCACACAGTGG 0.532000 19 128 0 0 1 0 0 AC073321.4 0 broad.mit.edu 37 2 217475010 217475010 + RNA DEL G G - TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr2:217475010delG ENST00000441803.1 + 0 195 ttttttttttGAAAGAAAGGC 0.393 2 4 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr3:151148114_151148116delCAG ENST00000474524.1 + 42 6369_6371 c.6331_6333delCAG c.(6331-6333)del p.Q2115del MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 2115 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.Q2111E(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGCAGACCCAGCAGCAGCAGC 0.527 7 104 --- --- --- --- TFCP2 7024 broad.mit.edu 37 12 51504700 51504700 + Frame_Shift_Del DEL A A - TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr12:51504700delA ENST00000307660.4 - 5 1244 c.524delT c.(523-525)tcfs p.F175fs TFCP2_ENST00000257915.5_Frame_Shift_Del_p.F175fs|TFCP2_ENST00000549867.1_Frame_Shift_Del_p.F175fs|TFCP2_ENST00000548115.1_Frame_Shift_Del_p.F175fs NM_001173453.1 NP_001166924.1 Q12800 TFCP2_HUMAN transcription factor CP2 175 DNA-binding. regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 23 GTCCCACAGGAACTCCACTGT 0.398 33 286 --- --- --- --- CSPG4P5 114817 broad.mit.edu 37 15 84957462 84957472 + RNA DEL GTGGCATCTGT GTGGCATCTGT - TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr15:84957462_84957472delGTGGCATCTGT ENST00000558801.1 - 0 7257_7267 CACTTGTAGGGTGGCATCTGTGTGCACTGGC 0.578 3 4 --- --- --- --- RRN3P2 653390 broad.mit.edu 37 16 29110406 29110406 + RNA DEL T T - TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr16:29110406delT ENST00000564580.1 + 0 1098 TTAAAAAATCTTTTTTTTTTT 0.299 8 65 --- --- --- --- INSM1 3642 broad.mit.edu 37 20 20349570 20349570 + Frame_Shift_Del DEL C C - TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23de294b-badb-40b1-ac77-e7e16ff23839 610127a0-b1b0-485f-acf0-cfcc55debe10 g.chr20:20349570delC ENST00000310227.1 + 1 806 c.659delC c.(658-660)gcfs p.A220fs NM_002196.2 NP_002187.1 Q01101 INSM1_HUMAN insulinoma-associated 1 220 Ala/Gly/Pro-rich. endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding liver(1)|lung(3)|ovary(1)|prostate(1) 6 READ - Rectum adenocarcinoma(2;0.0649) GCCCCGGGCGCCAAGAAGCCC 0.756 2 4 --- --- --- ---