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 NAPSA 9476 broad.mit.edu 37 19 50862816 50862816 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr19:50862816C>T ENST00000253719.2 - 7 1088 c.880G>A c.(880-882)Gag>Aag p.E294K NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron NM_004851.1 NP_004842.1 O96009 NAPSA_HUMAN napsin A aspartic peptidase 294 proteolysis extracellular region aspartic-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183) CGGATCTCCTCAGTGGGTCCT 0.647000 14 51 0 0 0.001855 0 0 WNK4 65266 broad.mit.edu 37 17 40940726 40940726 + Missense_Mutation SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr17:40940726G>C ENST00000246914.5 + 11 2089 c.2068G>C c.(2068-2070)Gag>Cag p.E690Q NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 690 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) CAGAGTGGTTGAGTGCCAGCT 0.542000 14 43 0 0 0.001855 0 0 GPR75-ASB3 100302652 broad.mit.edu 37 2 53927562 53927562 + Missense_Mutation SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr2:53927562G>A ENST00000263634.3 - 8 1218 c.1084C>T c.(1084-1086)Cgc>Tgc p.R362C GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.R289C|ASB3_ENST00000406625.2_Missense_Mutation_p.R397C|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.R289C|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.R400C NM_016115.4 NP_057199.1 Q2TAI4 Q2TAI4_HUMAN 397 intracellular signal transduction AAAAAGTAGCGAAATATCGAA 0.353000 7 72 0 0 0.001984 0 0 NFE2L2 4780 broad.mit.edu 37 2 178095623 178095623 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr2:178095623C>T ENST00000397062.3 - 5 2262 c.1708G>A c.(1708-1710)Gat>Aat p.D570N NFE2L2_ENST00000464747.1_Missense_Mutation_p.D554N|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D547N|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D554N NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 570 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) CCATCTTCATCACGTAGCATG 0.378000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 18 107 0 0 0.007413 0 0 PHACTR3 116154 broad.mit.edu 37 20 58349449 58349449 + Nonsense_Mutation SNP G G T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr20:58349449G>T ENST00000371015.1 + 7 1545 c.1078G>T c.(1078-1080)Gag>Tag p.E360* PHACTR3_ENST00000359926.3_Nonsense_Mutation_p.E357*|PHACTR3_ENST00000395636.2_Nonsense_Mutation_p.E319*|PHACTR3_ENST00000395639.4_Nonsense_Mutation_p.E249*|PHACTR3_ENST00000355648.4_Nonsense_Mutation_p.E319*|PHACTR3_ENST00000361300.4_Nonsense_Mutation_p.E249*|PHACTR3_ENST00000541461.1_Nonsense_Mutation_p.E319* NM_080672.3 NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 360 nuclear matrix actin binding|protein phosphatase inhibitor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) TAAGGAATCTGAGGAGAACAA 0.517000 22 70 8.10497e-08 1.24125e-07 0.001523 1 0 OR5D13 390142 broad.mit.edu 37 11 55541619 55541619 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr11:55541619C>T ENST00000361760.1 + 1 706 c.706C>T c.(706-708)Cgc>Tgc p.R236C NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 236 R -> L (in dbSNP:rs7124871). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) TGCAAGTGGGCGCCAGAAAAC 0.408000 8 67 0 0 0.004482 0 0 INSRR 3645 broad.mit.edu 37 1 156821804 156821804 + Missense_Mutation SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr1:156821804G>A ENST00000368195.3 - 3 1213 c.817C>T c.(817-819)Cgc>Tgc p.R273C NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 273 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GTGACACAGCGCCAGGACTCA 0.662000 10 32 0 0 0.000978 0 0 SYT4 6860 broad.mit.edu 37 18 40853923 40853923 + Silent SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr18:40853923G>C ENST00000255224.3 - 2 839 c.471C>G c.(469-471)ctC>ctG p.L157L SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.L139L NM_020783.3 NP_065834.1 Q9H2B2 SYT4_HUMAN synaptotagmin IV 157 C2 1.|Phospholipid binding (Probable). cell junction|integral to membrane|synaptic vesicle membrane transporter activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 AGGAGAAGAAGAGAGTTCCCA 0.453000 5 33 0 0 0.000602 0 0 IGKV2D-29 28882 broad.mit.edu 37 2 89986900 89986900 + RNA SNP T T A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr2:89986900T>A ENST00000491977.1 + 0 211 TTTGTATTGGTACCTGCAGAA 0.557000 8 42 0 0 0.006214 0 0 ANKRD12 23253 broad.mit.edu 37 18 9255172 9255172 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr18:9255172C>T ENST00000383440.2 + 8 2095 c.1838C>T c.(1837-1839)tCa>tTa p.S613L ANKRD12_ENST00000400020.3_Missense_Mutation_p.S613L|ANKRD12_ENST00000262126.3_Missense_Mutation_p.S636L NM_001083625.2 NP_001077094.1 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 636 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 TTTGAAAATTcagattgcaca 0.274000 14 51 0 0 0.001855 0 0 TMEM132D 121256 broad.mit.edu 37 12 129694177 129694177 + Missense_Mutation SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr12:129694177G>A ENST00000422113.2 - 5 1657 c.1331C>T c.(1330-1332)aCg>aTg p.T444M RP11-669N7.3_ENST00000542578.1_lincRNA NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 444 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CGTCTTCCCCGTGAGGATGGC 0.592000 11 39 0 0 0.001368 0 0 ALDH9A1 223 broad.mit.edu 37 1 165664528 165664528 + Missense_Mutation SNP C C A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr1:165664528C>A ENST00000354775.4 - 2 592 c.288G>T c.(286-288)gaG>gaT p.E96D ALDH9A1_ENST00000461664.1_5'UTR|ALDH9A1_ENST00000538148.1_Missense_Mutation_p.E2D NM_000696.3 NP_000687.3 P49189 AL9A1_HUMAN aldehyde dehydrogenase 9 family, member A1 72 carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process cytosol|plasma membrane 3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 21 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) NADH(DB00157) TTCGGCAACGCTCCATGCCAG 0.398000 18 34 3.52763e-06 5.25545e-06 0.004990 1 0 UGT1A8 54576 broad.mit.edu 37 2 234527112 234527112 + Silent SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr2:234527112G>A ENST00000373450.4 + 1 822 c.759G>A c.(757-759)ttG>ttA p.L253L NM_019076.4 NP_061949.3 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008) TTTGGTTGTTGCGAACAGACT 0.428000 61 290 0 0 0.003610 0 0 CTNNB1 1499 broad.mit.edu 37 3 41266590 41266590 + Silent SNP A A G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr3:41266590A>G ENST00000349496.5 + 4 667 c.387A>G c.(385-387)tcA>tcG p.S129S CTNNB1_ENST00000453024.1_Silent_p.S122S|CTNNB1_ENST00000405570.1_Silent_p.S129S|CTNNB1_ENST00000396185.3_Silent_p.S129S|CTNNB1_ENST00000396183.3_Silent_p.S129S NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 129 adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.A5_Q143del(7)|p.Q28_H134del(5)|p.W25_I140del(3)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.M5_N141>D(2)|p.M1_V173del(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.H24_M131del(1)|p.I35_K170del(1)|p.E15_I140>V(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.P16_K133del(1) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) CTGAACCATCACAGATGCTGA 0.448000 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 15 48 0 0 0.002450 0 0 KMT2C 58508 broad.mit.edu 37 7 152012253 152012253 + Nonsense_Mutation SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr7:152012253G>C ENST00000355193.2 - 4 778 c.560C>G c.(559-561)tCa>tGa p.S187* KMT2C_ENST00000262189.6_Nonsense_Mutation_p.S187* lysine (K)-specific methyltransferase 2C TCGTGGTGCTGAGTTTTGCAT 0.353000 23 88 0 0 0.003954 0 0 HS6ST1 9394 broad.mit.edu 37 2 129025882 129025882 + Nonsense_Mutation SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr2:129025882G>A ENST00000259241.6 - 2 1103 c.1090C>T c.(1090-1092)Cag>Tag p.Q364* NM_004807.2 NP_004798.3 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 364 heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) CGCTCCAGCTGCCGCTTGTAC 0.672000 20 50 0 0 0.001882 0 0 PIGM 93183 broad.mit.edu 37 1 160001446 160001446 + Silent SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr1:160001446G>A ENST00000368090.2 - 1 337 c.84C>T c.(82-84)gcC>gcT p.A28A NM_145167.2 NP_660150.1 Q9H3S5 PIGM_HUMAN phosphatidylinositol glycan anchor biosynthesis, class M 28 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1) 17 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGGCGACTCTGGCTAGAAAGG 0.607000 30 77 0 0 0.006320 0 0 RWDD3 25950 broad.mit.edu 37 1 95710026 95710026 + Silent SNP C C A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr1:95710026C>A ENST00000429514.2 + 3 506 c.300C>A c.(298-300)ctC>ctA p.L100L RWDD3_ENST00000370202.4_Silent_p.L115L|RP11-57H12.5_ENST00000444665.1_RNA|RWDD3_ENST00000495272.1_3'UTR|RP11-57H12.6_ENST00000604534.1_3'UTR|RWDD3_ENST00000263893.6_Silent_p.L115L Q9Y3V2 RWDD3_HUMAN RWD domain containing 3 115 RWD. cytoplasm|nucleus protein binding kidney(1)|large_intestine(2)|lung(6)|ovary(1) 10 all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769) all cancers(265;0.112)|Epithelial(280;0.229) GGCATATCCTCAGCCAACCAG 0.443000 13 46 6.72482e-11 1.07108e-10 0.003163 1 0 PTPRD 5789 broad.mit.edu 37 9 8518241 8518241 + Missense_Mutation SNP T T G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr9:8518241T>G ENST00000381196.4 - 18 1693 c.1150A>C c.(1150-1152)Agt>Cgt p.S384R PTPRD_ENST00000486161.1_Missense_Mutation_p.S384R|PTPRD_ENST00000356435.5_Missense_Mutation_p.S384R|PTPRD_ENST00000355233.5_Missense_Mutation_p.S384R|PTPRD_ENST00000397606.3_Missense_Mutation_p.S374R|PTPRD_ENST00000397611.3_Missense_Mutation_p.S381R|PTPRD_ENST00000397617.3_Missense_Mutation_p.S374R|PTPRD_ENST00000540109.1_Missense_Mutation_p.S384R|PTPRD_ENST00000360074.4_Missense_Mutation_p.S371R|PTPRD_ENST00000537002.1_Missense_Mutation_p.S381R|PTPRD_ENST00000358503.5_Missense_Mutation_p.S371R NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 384 Fibronectin type-III 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GAGTAGGGACTTAGTCCAGCG 0.463000 TSP Lung(15;0.13) 24 159 0 0 0.003330 0 0 ODF2 4957 broad.mit.edu 37 9 131254985 131254985 + Missense_Mutation SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr9:131254985G>A ENST00000303890.5 + 18 2166 c.1581G>A c.(1579-1581)atG>atA p.M527I ODF2_ENST00000444119.2_Missense_Mutation_p.M527I|ODF2_ENST00000351030.3_Missense_Mutation_p.M546I|ODF2_ENST00000372807.5_Missense_Mutation_p.M546I|ODF2_ENST00000434106.2_Missense_Mutation_p.M551I|ODF2_ENST00000372791.3_Missense_Mutation_p.M532I|ODF2_ENST00000372814.3_Missense_Mutation_p.M595I|ODF2_ENST00000393533.2_Missense_Mutation_p.M551I|ODF2_ENST00000546203.1_Missense_Mutation_p.M532I|ODF2_ENST00000372796.4_Missense_Mutation_p.M551I|ODF2_ENST00000448249.3_Missense_Mutation_p.M470I NM_002540.4 NP_002531.3 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 551 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 37 CCTAGGTGATGAAGACCAGAT 0.483000 6 31 0 0 0.001168 0 0 XK 7504 broad.mit.edu 37 X 37586996 37586996 + Silent SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chrX:37586996C>T ENST00000378616.3 + 3 819 c.616C>T c.(616-618)Ctg>Ttg p.L206L TM4SF2_ENST00000465127.1_Intron NM_021083.2 NP_066569.1 P51811 XK_HUMAN X-linked Kx blood group (McLeod syndrome) 206 amino acid transport integral to membrane protein binding|transporter activity breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(315;0.175) AGTGAAGCCTCTGGCCTATGT 0.493000 10 39 0 0 0.000673 0 0 VWA8 23078 broad.mit.edu 37 13 42335296 42335296 + Silent SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr13:42335296G>C ENST00000379310.3 - 21 2462 c.2394C>G c.(2392-2394)ctC>ctG p.L798L VWA8_ENST00000281496.6_Silent_p.L798L NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 GGGGTCTGTTGAGCAGGTGAA 0.363000 22 80 0 0 0.002780 0 0 GPR115 221393 broad.mit.edu 37 6 47678616 47678616 + Silent SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr6:47678616C>G ENST00000283303.2 + 4 552 c.294C>G c.(292-294)ctC>ctG p.L98L GPR115_ENST00000371220.1_Silent_p.L155L|GPR115_ENST00000327753.3_Silent_p.L98L NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 98 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 TGGAAAAACTCTTTAAGGTGA 0.373000 9 39 0 0 0.000673 0 0 PCLO 27445 broad.mit.edu 37 7 82785588 82785588 + Missense_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr7:82785588C>G ENST00000423517.2 - 2 706 c.369G>C c.(367-369)caG>caC p.Q123H PCLO_ENST00000333891.8_Missense_Mutation_p.Q123H NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 123 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CAGGCAATTTCTGCTCTGACC 0.483000 15 76 0 0 0.004990 0 0 MPRIP 23164 broad.mit.edu 37 17 17061836 17061836 + Silent SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr17:17061836G>A ENST00000395811.5 + 14 1655 c.1566G>A c.(1564-1566)ccG>ccA p.P522P MPRIP_ENST00000444976.1_Silent_p.P484P|MPRIP_ENST00000395804.3_Silent_p.P522P|MPRIP_ENST00000341712.4_Silent_p.P522P NM_015134.3|NM_201274.3 NP_055949.2|NP_958431.2 Q6WCQ1 MPRIP_HUMAN myosin phosphatase Rho interacting protein 522 cytoplasm|cytoskeleton actin binding p.P522P(1) biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 TGGGGGAGCCGGACCCTGAGC 0.632000 9 42 0 0 0.006214 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502282 140502282 + Silent SNP C C A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr5:140502282C>A ENST00000194152.1 + 1 702 c.702C>A c.(700-702)atC>atA p.I234I NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 234 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding p.I234I(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCATGGACATCAATGACAATG 0.527000 23 105 3.62473e-10 5.71091e-10 0.001882 1 0 ALOX12 239 broad.mit.edu 37 17 6905118 6905118 + Missense_Mutation SNP C C A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr17:6905118C>A ENST00000251535.6 + 8 1202 c.1149C>A c.(1147-1149)caC>caA p.H383Q AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399540.2_3'UTR NM_000697.2 NP_000688.2 P18054 LOX12_HUMAN arachidonate 12-lipoxygenase 383 Lipoxygenase. anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation cytosol|sarcolemma arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1) 19 CAGGACTGCACCCCATCTTCA 0.488000 16 68 6.31663e-08 9.70766e-08 0.003163 1 0 APOB 338 broad.mit.edu 37 2 21230369 21230369 + Missense_Mutation SNP T T C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr2:21230369T>C ENST00000233242.1 - 26 9498 c.9371A>G c.(9370-9372)gAt>gGt p.D3124G NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3124 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GTTTAAGAAATCCAGATTTGC 0.378000 19 84 0 0 0.006122 0 0 JARID2 3720 broad.mit.edu 37 6 15508627 15508627 + Missense_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr6:15508627C>G ENST00000341776.2 + 12 3032 c.2788C>G c.(2788-2790)Cga>Gga p.R930G JARID2_ENST00000397311.3_Missense_Mutation_p.R758G|JARID2_ENST00000541660.1_Missense_Mutation_p.R892G NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 930 JmjC. central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) ATGCTGGTCTCGAGACCAAAA 0.463000 12 47 0 0 0.004007 0 0 SLC1A6 6511 broad.mit.edu 37 19 15061151 15061151 + Silent SNP G G T rs143528996 TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr19:15061151G>T ENST00000430939.2 - 9 1488 c.1359C>A c.(1357-1359)gcC>gcA p.A453A SLC1A6_ENST00000600144.1_Silent_p.A439A|SLC1A6_ENST00000221742.3_Silent_p.A517A P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 517 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) GCTCGATGACGGCCGCTCCAA 0.567000 16 49 3.45872e-05 5.08362e-05 0.004007 1 0 SKIV2L 6499 broad.mit.edu 37 6 31934521 31934521 + Silent SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr6:31934521C>T ENST00000375394.2 + 19 2351 c.2238C>T c.(2236-2238)ctC>ctT p.L746L SKIV2L_ENST00000544581.1_Silent_p.L553L NM_006929.4 NP_008860.4 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like (S. cerevisiae) 746 Helicase C-terminal. nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 AGTTCCGCCTCACGTACACTA 0.567000 23 124 0 0 0.003330 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130343462 130343462 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr11:130343462C>T ENST00000299164.2 + 8 2599 c.2599C>T c.(2599-2601)Cgg>Tgg p.R867W NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 867 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) GGTGGACTGCCGGGGCTCCGC 0.751000 5 24 0 0 0.001168 0 0 WDFY3 23001 broad.mit.edu 37 4 85701392 85701392 + Missense_Mutation SNP C C A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr4:85701392C>A ENST00000322366.6 - 26 4641 c.4234G>T c.(4234-4236)Gca>Tca p.A1412S WDFY3_ENST00000295888.4_Missense_Mutation_p.A1412S Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 1412 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) AGGATGGCTGCAGCTCCACCA 0.478000 29 61 2.47511e-08 3.81724e-08 0.001512 1 0 EPCAM 4072 broad.mit.edu 37 2 47604194 47604194 + Missense_Mutation SNP C C A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr2:47604194C>A ENST00000263735.4 + 5 891 c.533C>A c.(532-534)cCa>cAa p.P178Q EPCAM_ENST00000405271.1_Missense_Mutation_p.P206Q NM_002354.2 NP_002345.2 P16422 EPCAM_HUMAN epithelial cell adhesion molecule 178 positive regulation of cell proliferation apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction protein binding p.0?(2)|p.?(1) endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1) 15 CAACTGGATCCAAAATTTATC 0.333000 12 53 1.61879e-10 2.55968e-10 0.001368 1 0 USP33 23032 broad.mit.edu 37 1 78207408 78207408 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr1:78207408C>T ENST00000370793.1 - 3 414 c.68G>A c.(67-69)gGg>gAg p.G23E USP33_ENST00000528150.1_5'UTR|USP33_ENST00000370792.3_Missense_Mutation_p.G23E|USP33_ENST00000370794.3_5'UTR|USP33_ENST00000357428.1_Missense_Mutation_p.G23E NM_015017.4 NP_055832.3 Q8TEY7 UBP33_HUMAN ubiquitin specific peptidase 33 23 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 44 TTCCTGTTTCCCAAGACTTTC 0.289000 3 24 0 0 0.004672 0 0 ZNF624 57547 broad.mit.edu 37 17 16527194 16527194 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr17:16527194C>T ENST00000311331.7 - 6 1097 c.1006G>A c.(1006-1008)Gaa>Aaa p.E336K NM_020787.3 NP_065838.2 Q9P2J8 ZN624_HUMAN zinc finger protein 624 336 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 26 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) TTTCCACATTCATTACATTTA 0.368000 24 79 0 0 0.002780 0 0 LDLR 3949 broad.mit.edu 37 19 11213447 11213447 + Missense_Mutation SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr19:11213447G>C ENST00000558518.1 + 3 485 c.298G>C c.(298-300)Gac>Cac p.D100H LDLR_ENST00000455727.2_Missense_Mutation_p.D100H|LDLR_ENST00000545707.1_Missense_Mutation_p.D100H|LDLR_ENST00000558013.1_Missense_Mutation_p.D100H|LDLR_ENST00000557933.1_Missense_Mutation_p.D100H|LDLR_ENST00000535915.1_Intron NM_000527.4|NM_001195798.1 NP_000518.1|NP_001182727.1 P01130 LDLR_HUMAN low density lipoprotein receptor 100 LDL-receptor class A 2. cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity p.?(1) breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) CAACGGCTCAGACGAGCAAGG 0.592000 14 85 0 0 0.001855 0 0 HS3ST1 9957 broad.mit.edu 37 4 11400946 11400946 + Silent SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr4:11400946G>A ENST00000002596.5 - 2 1858 c.684C>T c.(682-684)atC>atT p.I228I NM_005114.2 NP_005105.1 O14792 HS3S1_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 1 228 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity p.I228I(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3) 15 CGACCTTTTGGATCTCAGGGA 0.557000 6 28 0 0 0.001168 0 0 DCP1B 196513 broad.mit.edu 37 12 2062350 2062350 + Missense_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr12:2062350C>G ENST00000280665.6 - 7 835 c.756G>C c.(754-756)caG>caC p.Q252H DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000541700.1_5'UTR NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 252 Poly-Gln. 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 p.Q252H(8) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) gctgctgctgctgGTGGAGAG 0.552000 3 91 0 0 0.004672 0 0 GIMAP5 55340 broad.mit.edu 37 7 150439312 150439312 + Missense_Mutation SNP A A G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr7:150439312A>G ENST00000358647.3 + 3 452 c.85A>G c.(85-87)Agg>Ggg p.R29G GIMAP5_ENST00000479556.1_3'UTR NM_018384.4 NP_060854.2 GTPase, IMAP family member 5 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ACCGGCATTGAGGATTATCCT 0.468000 3 60 0 0 0.004672 0 0 USP34 9736 broad.mit.edu 37 2 61483552 61483552 + Missense_Mutation SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr2:61483552G>C ENST00000398571.2 - 48 6264 c.6188C>G c.(6187-6189)tCt>tGt p.S2063C NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 2063 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) CCCACAATGAGAACAAGTATA 0.313000 9 44 0 0 0.006214 0 0 PASK 23178 broad.mit.edu 37 2 242065973 242065973 + Missense_Mutation SNP T T C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr2:242065973T>C ENST00000403638.3 - 10 2448 c.2357A>G c.(2356-2358)gAa>gGa p.E786G PASK_ENST00000544142.1_Missense_Mutation_p.E600G|PASK_ENST00000358649.4_Missense_Mutation_p.E786G|PASK_ENST00000539818.1_Missense_Mutation_p.E570G|PASK_ENST00000234040.4_Missense_Mutation_p.E786G|PASK_ENST00000405260.1_Missense_Mutation_p.E786G NM_001252124.1 NP_001239053.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 786 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) CGACCCCTGTTCCTGGAGACT 0.567000 22 65 0 0 0.002299 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 3 60 0 0 0.000248 0 0 ASIC5 51802 broad.mit.edu 37 4 156764841 156764841 + Missense_Mutation SNP G G T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr4:156764841G>T ENST00000537611.2 - 5 899 c.853C>A c.(853-855)Caa>Aaa p.Q285K NM_017419.2 NP_059115.1 Q9NY37 ACCN5_HUMAN acid-sensing (proton-gated) ion channel family member 5 285 integral to membrane|plasma membrane ACCTTCACTTGGCGGATGGTT 0.443000 19 71 1.37878e-21 2.27889e-21 0.003330 1 0 DMAP1 55929 broad.mit.edu 37 1 44685131 44685131 + Silent SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr1:44685131C>G ENST00000372289.2 + 7 1223 c.960C>G c.(958-960)gtC>gtG p.V320V DMAP1_ENST00000315913.5_Silent_p.V320V|DMAP1_ENST00000361745.6_Silent_p.V320V|DMAP1_ENST00000488433.1_3'UTR NM_019100.4 NP_061973.1 Q9NPF5 DMAP1_HUMAN DNA methyltransferase 1 associated protein 1 320 DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex DNA binding|protein binding breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Acute lymphoblastic leukemia(166;0.155) CTGCAGGTGTCACGCTGCGGA 0.582000 9 29 0 0 0.000673 0 0 MGEA5 10724 broad.mit.edu 37 10 103563684 103563684 + Missense_Mutation SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr10:103563684G>C ENST00000361464.3 - 7 1239 c.844C>G c.(844-846)Cat>Gat p.H282D MGEA5_ENST00000439817.1_Missense_Mutation_p.H282D|MGEA5_ENST00000357797.5_Missense_Mutation_p.H282D|MGEA5_ENST00000370094.3_Missense_Mutation_p.H282D NM_012215.3 NP_036347.1 O60502 NCOAT_HUMAN meningioma expressed antigen 5 (hyaluronidase) 282 glycoprotein catabolic process cytoplasm|nucleus histone acetyltransferase activity|hyalurononglucosaminidase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 23 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) TCATTAGCATGAATGTTATCC 0.398000 28 117 0 0 0.004656 0 0 GAL3ST4 79690 broad.mit.edu 37 7 99757817 99757817 + Missense_Mutation SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr7:99757817G>A ENST00000360039.4 - 4 1587 c.1195C>T c.(1195-1197)Cgc>Tgc p.R399C GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R399C|GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.R337C NM_024637.4 NP_078913.3 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 399 cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane|membrane fraction 3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCCTCTCGGCGAGCCCGGAGC 0.612000 36 102 0 0 0.004289 0 0 RBKS 64080 broad.mit.edu 37 2 28050554 28050554 + Missense_Mutation SNP C C A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr2:28050554C>A ENST00000302188.3 - 7 1427 c.675G>T c.(673-675)ttG>ttT p.L225F RBKS_ENST00000444339.2_Missense_Mutation_p.L225F NM_022128.1 NP_071411.1 Q9H477 RBSK_HUMAN ribokinase 225 D-ribose metabolic process ATP binding|ribokinase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 7 Acute lymphoblastic leukemia(172;0.155) AGCCCCTTTTCAAGAGCACTA 0.512000 17 60 2.23348e-06 3.33879e-06 0.004007 1 0 BMP7 655 broad.mit.edu 37 20 55750064 55750064 + Splice_Site SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr20:55750064C>G ENST00000395863.3 - 5 1464 c.e5-1 BMP7_ENST00000460817.1_Splice_Site|BMP7_ENST00000395864.3_Splice_Site|BMP7_ENST00000450594.2_Splice_Site NM_001719.2 NP_001710.1 P18075 BMP7_HUMAN bone morphogenetic protein 7 BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) CTGCTGTTCTCTGCATTGACA 0.537000 4 6 0 0 0.000602 0 0 UGT2B28 54490 broad.mit.edu 37 4 70152481 70152481 + Silent SNP A A G rs141618560 TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr4:70152481A>G ENST00000335568.5 + 3 884 c.882A>G c.(880-882)gaA>gaG p.E294E UGT2B28_ENST00000511240.1_Silent_p.E294E NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 294 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.E294E(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) AAATGGAGGAATTTGTACAGA 0.393000 4 99 0 0 0.001984 0 0 ULK2 9706 broad.mit.edu 37 17 19748690 19748690 + Splice_Site SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr17:19748690G>A ENST00000395544.4 - 7 969 c.469_splice c.e7-1 p.A157_splice ULK2_ENST00000361658.2_Splice_Site_p.A157_splice NM_014683.3 NP_055498.3 Q8IYT8 ULK2_HUMAN unc-51 like autophagy activating kinase 2 157 Protein kinase. signal transduction ATP binding|protein binding|protein serine/threonine kinase activity large_intestine(1)|skin(4)|stomach(1) 6 all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186) ACCAAAATCCGCTATTTCACA 0.413000 8 22 0 0 0.004482 0 0 SLC24A1 9187 broad.mit.edu 37 15 65916745 65916745 + Silent SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr15:65916745G>A ENST00000261892.6 + 2 614 c.327G>A c.(325-327)gaG>gaA p.E109E SLC24A1_ENST00000339868.6_Silent_p.E109E|SLC24A1_ENST00000546330.1_Silent_p.E109E|SLC24A1_ENST00000537259.1_Silent_p.E109E|SLC24A1_ENST00000544319.2_Silent_p.E109E|SLC24A1_ENST00000399033.4_Silent_p.E109E NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 109 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 TGACAGTGGAGAATATCCCCA 0.493000 4 21 0 0 0.000248 0 0 EIF3M 10480 broad.mit.edu 37 11 32615458 32615458 + Missense_Mutation SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr11:32615458G>C ENST00000531120.1 + 6 643 c.580G>C c.(580-582)Gag>Cag p.E194Q EIF3M_ENST00000524896.1_Missense_Mutation_p.E62Q NM_006360.4 NP_006351.2 Q7L2H7 EIF3M_HUMAN eukaryotic translation initiation factor 3, subunit M 194 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 Breast(20;0.109) AAGTTACACAGAGGACAATGC 0.398000 12 26 0 0 0.000978 0 0 HSPD1 3329 broad.mit.edu 37 2 198363463 198363463 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr2:198363463C>T ENST00000388968.3 - 2 377 c.110G>A c.(109-111)cGa>cAa p.R37Q HSPD1_ENST00000345042.2_Missense_Mutation_p.R37Q|HSPD1_ENST00000544407.1_Missense_Mutation_p.R37Q NM_002156.4 NP_002147.2 P10809 CH60_HUMAN heat shock 60kDa protein 1 (chaperonin) 37 'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1) 17 Epithelial(96;0.225) CATTAAGGCTCGGGCATCTGC 0.463000 16 85 0 0 0.004990 0 0 NLRP12 91662 broad.mit.edu 37 19 54318203 54318203 + Missense_Mutation SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr19:54318203G>A ENST00000324134.6 - 2 497 c.329C>T c.(328-330)tCa>tTa p.S110L NLRP12_ENST00000391773.1_Missense_Mutation_p.S110L|NLRP12_ENST00000391772.1_Missense_Mutation_p.S110L|NLRP12_ENST00000535162.1_Missense_Mutation_p.S110L|NLRP12_ENST00000345770.5_Missense_Mutation_p.S110L|NLRP12_ENST00000351894.4_Missense_Mutation_p.S110L|NLRP12_ENST00000354278.3_Missense_Mutation_p.S110L|NLRP12_ENST00000391775.3_Missense_Mutation_p.S110L NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 110 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) AAGGCATGTTGACTGGTTCCC 0.517000 26 78 0 0 0.003954 0 0 ARHGAP4 393 broad.mit.edu 37 X 153178184 153178184 + Silent SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chrX:153178184G>C ENST00000370028.3 - 13 1689 c.1632C>G c.(1630-1632)ctC>ctG p.L544L ARHGAP4_ENST00000370016.1_Silent_p.L483L|ARHGAP4_ENST00000350060.5_Silent_p.L504L|ARHGAP4_ENST00000537206.1_Silent_p.L481L|ARHGAP4_ENST00000393721.1_Silent_p.L326L NM_001164741.1 NP_001158213.1 P98171 RHG04_HUMAN Rho GTPase activating protein 4 504 Rho-GAP. apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTCCCCCAAAGAGTCTCTGGT 0.552000 33 115 0 0 0.006230 0 0 SYNE1 23345 broad.mit.edu 37 6 152470722 152470722 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr6:152470722C>T ENST00000367255.5 - 136 25133 c.24532G>A c.(24532-24534)Gag>Aag p.E8178K SYNE1_ENST00000354674.4_Missense_Mutation_p.E333K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E8107K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E8178K|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000423061.1_Missense_Mutation_p.E8107K|SYNE1_ENST00000539504.1_Missense_Mutation_p.E333K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E7790K|SYNE1_ENST00000356820.4_Missense_Mutation_p.E2702K NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8178 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TCCAAGGGCTCACTCTTTTCT 0.478000 HNSCC(10;0.0054) 20 62 0 0 0.007413 0 0 COL1A2 1278 broad.mit.edu 37 7 94057185 94057185 + Missense_Mutation SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr7:94057185G>C ENST00000297268.6 + 49 3985 c.3514G>C c.(3514-3516)Gag>Cag p.E1172Q NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 1172 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CAGCCACCCAGAGTGGAGCAG 0.468000 HNSCC(75;0.22) 4 27 0 0 0.000248 0 0 RABEP2 79874 broad.mit.edu 37 16 28925721 28925721 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr16:28925721C>T ENST00000358201.4 - 5 1318 c.730G>A c.(730-732)Ggc>Agc p.G244S RABEP2_ENST00000357573.6_Missense_Mutation_p.G244S|RABEP2_ENST00000544477.1_Missense_Mutation_p.G173S NM_024816.2 NP_079092.2 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 244 endocytosis|protein transport early endosome growth factor activity|GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 16 GAGCTGCTGCCGACCCCACCG 0.672000 10 35 0 0 0.000673 0 0 COL6A2 1292 broad.mit.edu 37 21 47549243 47549243 + Silent SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr21:47549243C>T ENST00000357838.4 + 28 2677 c.2595C>T c.(2593-2595)gcC>gcT p.A865A COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000397763.1_Silent_p.A865A|COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000300527.4_Intron NM_058174.2 NP_478054.2 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 0 Nonhelical region.|VWFA 3. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) AGGACCCGGCCGCCTACTCCC 0.657000 21 100 0 0 0.001523 0 0 ABHD14A 25864 broad.mit.edu 37 3 52014456 52014456 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr3:52014456C>T ENST00000273596.3 + 4 513 c.445C>T c.(445-447)Cgg>Tgg p.R149W ABHD14B_ENST00000483233.1_Intron|ABHD14A-ACY1_ENST00000463937.1_Intron|ABHD14A_ENST00000491470.1_Intron|ACY1_ENST00000458031.2_Intron NM_015407.4 NP_056222.2 Q9BUJ0 ABHEA_HUMAN abhydrolase domain containing 14A 149 cytoplasm|integral to membrane hydrolase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1) 6 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) AGAGGCAGGGCGGGCAGCGCT 0.637000 25 45 0 0 0.001512 0 0 SKIV2L 6499 broad.mit.edu 37 6 31934894 31934894 + Silent SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr6:31934894G>C ENST00000375394.2 + 20 2567 c.2454G>C c.(2452-2454)ctG>ctC p.L818L SKIV2L_ENST00000544581.1_Silent_p.L625L NM_006929.4 NP_008860.4 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like (S. cerevisiae) 818 nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 GGGAGGAACTGACAGAGACCC 0.537000 16 77 0 0 0.006122 0 0 TRPM1 4308 broad.mit.edu 37 15 31358388 31358388 + Silent SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr15:31358388G>A ENST00000542188.1 - 6 1045 c.732C>T c.(730-732)tcC>tcT p.S244S TRPM1_ENST00000397795.2_Silent_p.S205S|TRPM1_ENST00000256552.6_Silent_p.S227S NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 205 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) AGTGGGTGTGGGAGTTGTTGA 0.537000 16 94 0 0 0.001523 0 0 SOX5 6660 broad.mit.edu 37 12 23998941 23998941 + Missense_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr12:23998941C>G ENST00000546136.1 - 2 420 c.418G>C c.(418-420)Gag>Cag p.E140Q SOX5_ENST00000537393.1_Missense_Mutation_p.E118Q|SOX5_ENST00000381381.2_Missense_Mutation_p.E140Q|SOX5_ENST00000541536.1_Missense_Mutation_p.E140Q|SOX5_ENST00000441133.2_Missense_Mutation_p.E118Q|SOX5_ENST00000541847.1_Missense_Mutation_p.E143Q|SOX5_ENST00000451604.2_Missense_Mutation_p.E153Q|SOX5_ENST00000309359.1_Missense_Mutation_p.E140Q|SOX5_ENST00000545921.1_Missense_Mutation_p.E143Q P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 153 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 TTGATGAGCTCTTCCATTTTC 0.438000 17 85 0 0 0.007413 0 0 DPYD 1806 broad.mit.edu 37 1 97564048 97564048 + Silent SNP G G T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr1:97564048G>T ENST00000370192.3 - 21 2863 c.2763C>A c.(2761-2763)atC>atA p.I921I DPYD-AS1_ENST00000422980.1_RNA NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 921 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TTTTTACCTTGATGGTAGGAA 0.289000 22 68 5.35047e-06 7.94409e-06 0.003330 1 0 SLX4 84464 broad.mit.edu 37 16 3656656 3656656 + Missense_Mutation SNP C C G rs148887586 TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr16:3656656C>G ENST00000294008.3 - 3 1219 c.579G>C c.(577-579)ttG>ttC p.L193F NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 193 Interaction with C20orf94, ERCC4 and MSH2. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 CTGCTGTTGTCAAACAGGAAG 0.512000 Direct reversal of damage 41 143 0 0 0.007835 0 0 ACSL4 2182 broad.mit.edu 37 X 108926454 108926454 + Missense_Mutation SNP A A T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chrX:108926454A>T ENST00000340800.2 - 4 766 c.262T>A c.(262-264)Tcc>Acc p.S88T ACSL4_ENST00000348502.6_Missense_Mutation_p.S47T|ACSL4_ENST00000469796.2_Missense_Mutation_p.S88T NM_022977.2 NP_075266.1 O60488 ACSL4_HUMAN acyl-CoA synthetase long-chain family member 4 88 fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2) 22 Icosapent(DB00159)|Troglitazone(DB00197) CCAAACTTGGATACAGCATGG 0.413000 35 140 0 0 0.004289 0 0 CFTR 1080 broad.mit.edu 37 7 117149168 117149168 + Missense_Mutation SNP T T A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr7:117149168T>A ENST00000003084.6 + 3 377 c.245T>A c.(244-246)aTg>aAg p.M82K CFTR_ENST00000454343.1_Missense_Mutation_p.M82K NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 82 ABC transmembrane type-1 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TGGAGATTTATGTTCTATGGA 0.318000 Cystic Fibrosis 22 103 0 0 0.001882 0 0 KCNQ2 3785 broad.mit.edu 37 20 62039880 62039880 + Missense_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr20:62039880C>G ENST00000354587.3 - 16 1973 c.1797G>C c.(1795-1797)caG>caC p.Q599H KCNQ2_ENST00000344462.3_Missense_Mutation_p.Q587H|KCNQ2_ENST00000359125.2_Missense_Mutation_p.Q591H|KCNQ2_ENST00000357249.2_Missense_Mutation_p.Q573H|KCNQ2_ENST00000430658.1_Missense_Mutation_p.Q560H|KCNQ2_ENST00000370224.1_Missense_Mutation_p.Q599H|KCNQ2_ENST00000370226.1_Missense_Mutation_p.Q561H|KCNQ2_ENST00000359689.1_Missense_Mutation_p.Q591H|KCNQ2_ENST00000360480.3_Missense_Mutation_p.Q563H O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 597 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) GCCCCACGATCTGGTCCACTC 0.697000 3 18 0 0 0.004672 0 0 ATG16L1 55054 broad.mit.edu 37 2 234186223 234186223 + Missense_Mutation SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr2:234186223G>A ENST00000392017.4 + 10 1221 c.964G>A c.(964-966)Gat>Aat p.D322N ATG16L1_ENST00000498620.1_3'UTR|ATG16L1_ENST00000373525.5_Missense_Mutation_p.D178N|ATG16L1_ENST00000347464.5_Missense_Mutation_p.D159N|ATG16L1_ENST00000392018.1_Missense_Mutation_p.D339N|ATG16L1_ENST00000392020.4_Missense_Mutation_p.D303N NM_001190266.1|NM_001190267.1|NM_030803.6 NP_001177195.1|NP_001177196.1|NP_110430.5 Q676U5 A16L1_HUMAN autophagy related 16-like 1 (S. cerevisiae) 322 autophagic vacuole assembly|protein homooligomerization|protein transport autophagic vacuole|pre-autophagosomal structure membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1) 25 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539) Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11) GGATGCACATGATGGGGAAGT 0.522000 15 48 0 0 0.003163 0 0 EHF 26298 broad.mit.edu 37 11 34668200 34668200 + Silent SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr11:34668200C>G ENST00000257831.3 + 3 433 c.312C>G c.(310-312)ctC>ctG p.L104L EHF_ENST00000450654.2_Silent_p.L104L|EHF_ENST00000530286.1_Silent_p.L104L|EHF_ENST00000527935.1_Silent_p.L104L|EHF_ENST00000531728.1_Silent_p.L104L|EHF_ENST00000533754.1_Silent_p.L104L|EHF_ENST00000531794.1_Silent_p.L126L NM_012153.5 NP_036285.2 Q9NZC4 EHF_HUMAN ets homologous factor 104 PNT. cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NFIA/EHF(2) autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1) 17 all_hematologic(20;0.117) Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235) GGCAGCTCCTCTACAGCAACT 0.552000 316 140 0 0 0.003610 0 0 CXCR2 3579 broad.mit.edu 37 2 219000052 219000052 + Silent SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr2:219000052G>A ENST00000318507.2 + 3 955 c.528G>A c.(526-528)ctG>ctA p.L176L NM_001557.3 NP_001548.1 P25025 CXCR2_HUMAN chemokine (C-X-C motif) receptor 2 176 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1) 22 CCTTGCTCCTGGCCCTGCCTG 0.532000 18 32 0 0 0.007413 0 0 APOBEC1 339 broad.mit.edu 37 12 7818459 7818459 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr12:7818459C>T ENST00000229304.4 - 1 30 c.10G>A c.(10-12)Gag>Aag p.E4K NM_001644.3 NP_001635.2 P41238 ABEC1_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 4 cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing nucleoplasm cytidine deaminase activity|RNA binding|zinc ion binding kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1) 17 TTACCTTTCTCAGAAGTCATG 0.488000 24 126 0 0 0.003954 0 0 RRAGB 10325 broad.mit.edu 37 X 55757890 55757890 + Silent SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chrX:55757890C>T ENST00000374941.4 + 5 976 c.387C>T c.(385-387)agC>agT p.S129S RRAGB_ENST00000474757.1_3'UTR|RRAGB_ENST00000262850.7_Silent_p.S157S NM_006064.4 NP_006055.3 Q5VZM2 RRAGB_HUMAN Ras-related GTP binding B 157 cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction Golgi apparatus|lysosome|nucleus GTP binding|protein binding breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1) 14 ATGTGGAGAGCCGCGAACTGG 0.433000 3 19 0 0 0.004672 0 0 PSG7 5676 broad.mit.edu 37 19 43428917 43428917 + RNA SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr19:43428917G>C ENST00000406070.2 - 0 1399 NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) cttgctctttgaggttccatg 0.418000 18 63 0 0 0.001523 0 0 MAP3K1 4214 broad.mit.edu 37 5 56152466 56152466 + Silent SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr5:56152466C>T ENST00000399503.3 + 2 522 c.522C>T c.(520-522)caC>caT p.H174H AC008937.2_ENST00000415589.1_RNA NM_005921.1 NP_005912.1 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase 174 cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1) 57 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) AAGGGTTGCACAAGATGGATG 0.403000 9 62 0 0 0.004482 0 0 UCP3 7352 broad.mit.edu 37 11 73717291 73717291 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr11:73717291C>T ENST00000314032.4 - 3 812 c.260G>A c.(259-261)cGc>cAc p.R87H UCP3_ENST00000426995.2_Missense_Mutation_p.R87H|UCP3_ENST00000348534.4_Missense_Mutation_p.R87H NM_003356.3 NP_003347.1 P55916 UCP3_HUMAN uncoupling protein 3 (mitochondrial, proton carrier) 87 mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange integral to membrane|mitochondrial inner membrane binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 12 Breast(11;2.08e-05) GCTCATCTGGCGCTGCAGGCC 0.647000 8 33 0 0 0.004482 0 0 USP1 7398 broad.mit.edu 37 1 62905655 62905655 + Missense_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr1:62905655C>G ENST00000339950.4 + 2 932 c.117C>G c.(115-117)ttC>ttG p.F39L USP1_ENST00000371146.1_Missense_Mutation_p.F39L NM_003368.4 NP_003359.3 O94782 UBP1_HUMAN ubiquitin specific peptidase 1 39 DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process nucleoplasm cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 19 all_neural(321;0.0281) BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535) CTTTGGATTTCACAGATTCTC 0.318000 15 74 0 0 0.004007 0 0 SYN2 6854 broad.mit.edu 37 3 12209896 12209896 + RNA SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr3:12209896C>T ENST00000432424.2 + 0 1248 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 TGGGTGGACACCTGCTCTGAG 0.522000 9 20 0 0 0.004482 0 0 FAM89A 375061 broad.mit.edu 37 1 231155686 231155686 + Missense_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr1:231155686C>G ENST00000366654.4 - 2 512 c.478G>C c.(478-480)Gac>Cac p.D160H FAM89A_ENST00000494111.1_5'UTR NM_198552.2 NP_940954.1 Q96GI7 FA89A_HUMAN family with sequence similarity 89, member A 160 endometrium(1)|upper_aerodigestive_tract(1) 2 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) GGGCCTCGGTCCCTCCTGTCG 0.587000 27 66 0 0 0.007291 0 0 ZNF449 203523 broad.mit.edu 37 X 134493848 134493848 + Missense_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chrX:134493848C>G ENST00000339249.4 + 4 731 c.591C>G c.(589-591)ttC>ttG p.F197L NM_152695.5 NP_689908.3 Q6P9G9 ZN449_HUMAN zinc finger protein 449 197 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) ACATGAACTTCTCATTGGAGA 0.363000 33 91 0 0 0.005524 0 0 SLC8A3 6547 broad.mit.edu 37 14 70518746 70518746 + Silent SNP G G T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr14:70518746G>T ENST00000381269.2 - 5 2745 c.1992C>A c.(1990-1992)ccC>ccA p.P664P SLC8A3_ENST00000394330.2_Silent_p.P21P|SLC8A3_ENST00000216568.7_Silent_p.P35P|SLC8A3_ENST00000534137.1_Silent_p.P661P|SLC8A3_ENST00000528359.1_Silent_p.P662P|SLC8A3_ENST00000356921.2_Silent_p.P658P|SLC8A3_ENST00000533541.1_Silent_p.P21P|SLC8A3_ENST00000357887.3_Silent_p.P662P NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 664 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) CTTCTAGTTTGGGGTGTTCAC 0.428000 27 59 1.7367e-05 2.56119e-05 0.006320 1 0 GLI1 2735 broad.mit.edu 37 12 57864291 57864291 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr12:57864291C>T ENST00000228682.2 + 12 1859 c.1768C>T c.(1768-1770)Cgg>Tgg p.R590W GLI1_ENST00000543426.1_Missense_Mutation_p.R462W|GLI1_ENST00000546141.1_Missense_Mutation_p.R549W NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 590 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) CTACCTGCTTCGGGCAAGATA 0.632000 13 63 0 0 0.001855 0 0 KIF5C 3800 broad.mit.edu 37 2 149793866 149793866 + Missense_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr2:149793866C>G ENST00000435030.1 + 4 728 c.360C>G c.(358-360)atC>atG p.I120M KIF5C_ENST00000414838.2_Missense_Mutation_p.I25M O60282 KIF5C_HUMAN kinesin family member 5C 120 Kinesin-motor. microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(221;0.108) TTGACCATATCTACTCCATGG 0.483000 2 7 0 0 0.004672 0 0 IGKV3-11 28914 broad.mit.edu 37 2 89326865 89326865 + RNA SNP T T G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr2:89326865T>G ENST00000483158.1 - 0 194 AAGTAGCTGCTAACACTCTGA 0.562000 27 83 0 0 0.004656 0 0 SIK3 23387 broad.mit.edu 37 11 116728595 116728595 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr11:116728595C>T ENST00000375300.1 - 20 3447 c.3442G>A c.(3442-3444)Gaa>Aaa p.E1148K SIK3_ENST00000434315.2_Missense_Mutation_p.E929K|SIK3_ENST00000292055.4_Missense_Mutation_p.E1090K|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000375288.1_Missense_Mutation_p.E425K|SIK3_ENST00000446921.2_Missense_Mutation_p.E1088K|SIK3_ENST00000542607.1_Missense_Mutation_p.E1030K Q9Y2K2 SIK3_HUMAN SIK family kinase 3 1090 cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 ATCCCCAATTCTTGGGCATGA 0.507000 12 57 0 0 0.001855 0 0 DIRC2 84925 broad.mit.edu 37 3 122514336 122514336 + Missense_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr3:122514336C>G ENST00000261038.5 + 1 695 c.297C>G c.(295-297)atC>atG p.I99M NM_032839.2 NP_116228.1 Q96SL1 DIRC2_HUMAN disrupted in renal carcinoma 2 99 transport integral to membrane endometrium(2)|large_intestine(1)|lung(14)|prostate(1) 18 GBM - Glioblastoma multiforme(114;0.0614) GGGGGCCCATCGGCTTCCTGC 0.692000 5 23 0 0 0.001168 0 0 ARID3B 10620 broad.mit.edu 37 15 74883672 74883672 + Silent SNP T T C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr15:74883672T>C ENST00000346246.5 + 6 1293 c.1062T>C c.(1060-1062)ctT>ctC p.L354L NM_006465.2 NP_006456.1 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B (BRIGHT-like) 354 Interaction with RB1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.L354L(1) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 CCCCTGCCCTTCTCTCCCCAC 0.647000 3 134 0 0 0.001168 0 0 ODF2 4957 broad.mit.edu 37 9 131254993 131254993 + Missense_Mutation SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr9:131254993G>A ENST00000303890.5 + 18 2174 c.1589G>A c.(1588-1590)aGa>aAa p.R530K ODF2_ENST00000444119.2_Missense_Mutation_p.R530K|ODF2_ENST00000351030.3_Missense_Mutation_p.R549K|ODF2_ENST00000372807.5_Missense_Mutation_p.R549K|ODF2_ENST00000434106.2_Missense_Mutation_p.R554K|ODF2_ENST00000372791.3_Missense_Mutation_p.R535K|ODF2_ENST00000372814.3_Missense_Mutation_p.R598K|ODF2_ENST00000393533.2_Missense_Mutation_p.R554K|ODF2_ENST00000546203.1_Missense_Mutation_p.R535K|ODF2_ENST00000372796.4_Missense_Mutation_p.R554K|ODF2_ENST00000448249.3_Missense_Mutation_p.R473K NM_002540.4 NP_002531.3 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 554 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 37 ATGAAGACCAGATTGGAGGCT 0.473000 6 29 0 0 0.001168 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21377664 21377664 + Missense_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr12:21377664C>G ENST00000256958.2 + 14 1852 c.1756C>G c.(1756-1758)Cta>Gta p.L586V NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 586 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) AGGAGGAATTCTAGCTCCAAT 0.358000 21 67 0 0 0.002780 0 0 TP53 7157 broad.mit.edu 37 17 7576855 7576855 + Nonsense_Mutation SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr17:7576855G>A ENST00000420246.2 - 9 1123 c.991C>T c.(991-993)Cag>Tag p.Q331* TP53_ENST00000445888.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000413465.2_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 331 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Q331*(23)|p.0?(8)|p.Q331fs*6(2)|p.?(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) CTTAGTACCTGAAGGGTGAAA 0.448000 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) 12 51 0 0 0.001855 0 0 LAMC3 10319 broad.mit.edu 37 9 133967145 133967145 + Missense_Mutation SNP C C A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr9:133967145C>A ENST00000361069.4 + 28 4832 c.4699C>A c.(4699-4701)Ctg>Atg p.L1567M LAMC3_ENST00000480883.1_3'UTR NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 1567 Domain II and I. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) TCTGCACAGCCTGCCCGAGAA 0.637000 11 28 1.08611e-07 1.64607e-07 0.000978 1 0 C16orf46 123775 broad.mit.edu 37 16 81095518 81095518 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr16:81095518C>T ENST00000378611.4 - 3 551 c.436G>A c.(436-438)Gca>Aca p.A146T C16orf46_ENST00000299578.5_Missense_Mutation_p.A146T|C16orf46_ENST00000444657.3_5'UTR|RP11-303E16.8_ENST00000564536.1_RNA NM_001100873.1 NP_001094343.1 Q6P387 CP046_HUMAN chromosome 16 open reading frame 46 146 NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1) 18 TCGCTAATTGCCCTGGAAGCA 0.572000 5 188 0 0 0.001168 0 0 SLC12A5 57468 broad.mit.edu 37 20 44675031 44675031 + Silent SNP G G T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr20:44675031G>T ENST00000454036.1 + 14 1888 c.1812G>T c.(1810-1812)ctG>ctT p.L604L SLC12A5_ENST00000539566.1_3'UTR|SLC12A5_ENST00000243964.3_Silent_p.L581L NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 604 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) TGCAGACGCTGCTGAGGACAC 0.567000 14 65 6.72482e-11 1.07108e-10 0.003163 1 0 GAS2L2 246176 broad.mit.edu 37 17 34072759 34072759 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr17:34072759C>T ENST00000254466.6 - 6 1784 c.1757G>A c.(1756-1758)cGg>cAg p.R586Q GAS2L2_ENST00000587565.1_Missense_Mutation_p.R570Q NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 586 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AGGTGTGTACCGCCCCTCCTG 0.582000 20 90 0 0 0.007413 0 0 TENM2 57451 broad.mit.edu 37 5 167419991 167419991 + Silent SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr5:167419991C>T ENST00000519204.1 + 4 745 c.627C>T c.(625-627)ttC>ttT p.F209F TENM2_ENST00000403607.2_Silent_p.F163F|TENM2_ENST00000545108.1_Silent_p.F330F|TENM2_ENST00000518659.1_Silent_p.F330F|TENM2_ENST00000520393.1_3'UTR|TENM2_ENST00000520394.1_Silent_p.F139F teneurin transmembrane protein 2 CACCCTTGTTCAGCAGCTCTT 0.567000 22 52 0 0 0.001882 0 0 MXRA5 25878 broad.mit.edu 37 X 3238066 3238066 + Missense_Mutation SNP C C A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chrX:3238066C>A ENST00000217939.6 - 5 5814 c.5660G>T c.(5659-5661)tGg>tTg p.W1887L NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1887 Ig-like C2-type 3. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) AACCTTTGTCCAAGTAACGAA 0.393000 16 58 0.00074312 0.00107421 0.006122 1 0 AQR 9716 broad.mit.edu 37 15 35189848 35189848 + Missense_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr15:35189848C>G ENST00000156471.5 - 21 2527 c.2302G>C c.(2302-2304)Gat>Cat p.D768H NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 768 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) GTGTCTTCATCTTCCACATCC 0.378000 19 33 0 0 0.007413 0 0 RNASE4 6038 broad.mit.edu 37 14 21167749 21167749 + Silent SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr14:21167749C>T ENST00000555835.1 + 2 895 c.219C>T c.(217-219)ttC>ttT p.F73F RP11-903H12.3_ENST00000554286.1_lincRNA|RNASE4_ENST00000397995.2_Silent_p.F73F|RNASE4_ENST00000304704.4_Silent_p.F73F|RNASE4_ENST00000555597.1_Silent_p.F73F|AL163636.6_ENST00000553909.1_RNA NM_002937.3 NP_002928.1 P34096 RNAS4_HUMAN ribonuclease, RNase A family, 4 73 mRNA cleavage extracellular region nucleic acid binding|pancreatic ribonuclease activity central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1) 6 all_cancers(95;0.00304) Epithelial(56;5.13e-07)|all cancers(55;4.73e-06) GBM - Glioblastoma multiforme(265;0.0133) TCAACACCTTCATCCATGAAG 0.478000 26 109 0 0 0.003954 0 0 DAPK1 1612 broad.mit.edu 37 9 90296352 90296352 + Nonsense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr9:90296352C>T ENST00000469640.2 + 20 2410 c.2035C>T c.(2035-2037)Cga>Tga p.R679* DAPK1_ENST00000472284.1_Nonsense_Mutation_p.R679*|DAPK1_ENST00000408954.3_Nonsense_Mutation_p.R679*|DAPK1_ENST00000358077.5_Nonsense_Mutation_p.R679*|DAPK1_ENST00000491893.1_Nonsense_Mutation_p.R679* P53355 DAPK1_HUMAN death-associated protein kinase 1 679 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 CCAGCAGCTCCGACCCACACA 0.502000 Chronic Lymphocytic Leukemia, Familial Clustering of 32 136 0 0 0.004289 0 0 PCLO 27445 broad.mit.edu 37 7 82763968 82763968 + Silent SNP T T C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr7:82763968T>C ENST00000423517.2 - 3 3235 c.2898A>G c.(2896-2898)caA>caG p.Q966Q PCLO_ENST00000333891.8_Silent_p.Q966Q NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 912 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGGCAGGGGCTTGTTTCATTG 0.507000 9 41 0 0 0.006214 0 0 SLC24A1 9187 broad.mit.edu 37 15 65918077 65918077 + Silent SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr15:65918077C>T ENST00000261892.6 + 2 1946 c.1659C>T c.(1657-1659)ctC>ctT p.L553L SLC24A1_ENST00000339868.6_Silent_p.L553L|SLC24A1_ENST00000546330.1_Silent_p.L553L|SLC24A1_ENST00000537259.1_Silent_p.L553L|SLC24A1_ENST00000544319.2_Silent_p.L553L|SLC24A1_ENST00000399033.4_Silent_p.L553L NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 553 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 TCCTCAACCTCACCTGGTGGC 0.517000 25 104 0 0 0.003330 0 0 PLCB1 23236 broad.mit.edu 37 20 8717816 8717816 + Missense_Mutation SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr20:8717816G>A ENST00000378641.3 + 20 2660 c.2185G>A c.(2185-2187)Gaa>Aaa p.E729K PLCB1_ENST00000378637.2_Missense_Mutation_p.E729K|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.E729K NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 729 C2. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 TGTCTGGGAAGAAGAACCTAT 0.378000 6 42 0 0 0.001168 0 0 PIK3R5 23533 broad.mit.edu 37 17 8790443 8790443 + Silent SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr17:8790443G>C ENST00000447110.1 - 12 1999 c.1875C>G c.(1873-1875)ctC>ctG p.L625L PIK3R5_ENST00000584803.1_Silent_p.L625L|PIK3R5_ENST00000581552.1_Silent_p.L625L NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 625 platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 GCAGGTGCATGAGGCCCAGTA 0.622000 8 37 0 0 0.003080 0 0 CDKN2A 1029 broad.mit.edu 37 9 21974696 21974696 + Missense_Mutation SNP T T C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr9:21974696T>C ENST00000304494.5 - 1 401 c.131A>G c.(130-132)tAc>tGc p.Y44C CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.Y44C|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.Y44C|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.Y44C NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 44 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(25)|p.0(1)|p.V28_V51del(1)|p.Y44fs*76(1)|p.Y44S(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CCTCCGACCGTAACTATTCGG 0.687000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 38 135 0 0 0.004878 0 0 CATSPER3 347732 broad.mit.edu 37 5 134305780 134305780 + Missense_Mutation SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr5:134305780G>C ENST00000282611.6 + 2 336 c.250G>C c.(250-252)Gag>Cag p.E84Q CATSPER3_ENST00000511235.1_3'UTR NM_178019.2 NP_821138.1 Q86XQ3 CTSR3_HUMAN cation channel, sperm associated 3 84 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CAGACTTCTTGAGGTAAGCAG 0.333000 15 81 0 0 0.003163 0 0 ZFYVE9 9372 broad.mit.edu 37 1 52729530 52729530 + Nonsense_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr1:52729530C>G ENST00000287727.3 + 5 2436 c.2264C>G c.(2263-2265)tCa>tGa p.S755* ZFYVE9_ENST00000357206.2_Nonsense_Mutation_p.S755*|ZFYVE9_ENST00000361625.1_Nonsense_Mutation_p.S755*|ZFYVE9_ENST00000371591.1_Nonsense_Mutation_p.S755* NM_004799.2 NP_004790.2 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 755 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 53 ATCTGCCATTCAGTGCTAATG 0.418000 5 23 0 0 0.001168 0 0 VPS13D 55187 broad.mit.edu 37 1 12336511 12336511 + Silent SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr1:12336511C>T ENST00000358136.3 + 19 2996 c.2866C>T c.(2866-2868)Ctg>Ttg p.L956L VPS13D_ENST00000356315.4_Silent_p.L956L NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 956 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GCAGCTCCTCCTGGCGGAATT 0.498000 OREG0013110 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 57 0 0 0.000673 0 0 TTN 7273 broad.mit.edu 37 2 179397871 179397871 + Missense_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr2:179397871C>G ENST00000589042.1 - 358 103695 c.103471G>C c.(103471-103473)Gaa>Caa p.E34491Q TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25551Q|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25618Q|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E32850Q|TTN_ENST00000460472.2_Missense_Mutation_p.E25426Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31923Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591867.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32850 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E25551Q(1)|p.E25618Q(1)|p.E25426Q(1)|p.E31921Q(1)|p.E31923Q(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGTACACTTTCAGTTCCAGAA 0.433000 41 131 0 0 0.005524 0 0 CYP2C19 1557 broad.mit.edu 37 10 96541716 96541716 + Missense_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr10:96541716C>G ENST00000371321.3 + 5 863 c.781C>G c.(781-783)Cgg>Ggg p.R261G CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 261 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) CAACAACCCTCGGGACTTTAT 0.353000 22 47 0 0 0.002299 0 0 CYP27B1 1594 broad.mit.edu 37 12 58158990 58158990 + Missense_Mutation SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr12:58158990G>C ENST00000228606.4 - 4 803 c.594C>G c.(592-594)atC>atG p.I198M RP11-571M6.13_ENST00000546609.1_RNA NM_000785.3 NP_000776.1 O15528 CP27B_HUMAN cytochrome P450, family 27, subfamily B, polypeptide 1 198 bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process mitochondrial outer membrane calcidiol 1-monooxygenase activity|electron carrier activity|heme binding central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1) 15 all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294) Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153) GAACCGCGGCGATGCCTTGTC 0.692000 OREG0021953 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 32 0 0 0.001168 0 0 UMODL1 89766 broad.mit.edu 37 21 43531075 43531075 + Silent SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr21:43531075C>T ENST00000400427.1 + 11 1923 c.1527C>T c.(1525-1527)ctC>ctT p.L509L UMODL1_ENST00000408989.2_Silent_p.L581L|UMODL1_ENST00000408910.2_Silent_p.L581L|UMODL1_ENST00000400424.1_Silent_p.L509L NM_001199527.1 NP_001186456.1 Q5DID0 UROL1_HUMAN uromodulin-like 1 576 EGF-like 2; calcium-binding (Potential). cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 CAGCAGCCCTCGGCCTAGAGA 0.657000 12 32 0 0 0.001368 0 0 AURKC 6795 broad.mit.edu 37 19 57746747 57746747 + Nonsense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr19:57746747C>T ENST00000302804.7 + 7 1078 c.892C>T c.(892-894)Cga>Tga p.R298* AURKC_ENST00000598785.1_Nonsense_Mutation_p.R264*|AURKC_ENST00000599062.1_Nonsense_Mutation_p.R295*|AURKC_ENST00000448930.1_Nonsense_Mutation_p.R264*|AURKC_ENST00000415300.2_Nonsense_Mutation_p.R279* NM_001015878.1 NP_001015878.1 Q9UQB9 AURKC_HUMAN aurora kinase C 298 cell cycle|cytokinesis condensed chromosome|cytoplasm|midbody|spindle midzone ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1) 25 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122) GGCCCACTCCCGAAGGGTGCT 0.622000 21 75 0 0 0.001882 0 0 ILDR2 387597 broad.mit.edu 37 1 166891884 166891884 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr1:166891884C>T ENST00000271417.3 - 8 1212 c.1157G>A c.(1156-1158)cGc>cAc p.R386H ILDR2_ENST00000469934.2_Missense_Mutation_p.R386H|ILDR2_ENST00000526687.1_Missense_Mutation_p.R278H|ILDR2_ENST00000528703.1_Missense_Mutation_p.R327H|ILDR2_ENST00000529071.1_Missense_Mutation_p.R367H|ILDR2_ENST00000525740.1_Missense_Mutation_p.R259H|ILDR2_ENST00000529387.1_Intron NM_199351.2 NP_955383.1 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 2 386 integral to membrane p.R386L(1) NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 TGAGGGCCCGCGGCTTGCCCC 0.582000 47 225 0 0 0.002852 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94652141 94652141 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr1:94652141C>T ENST00000260526.6 - 16 1876 c.1694G>A c.(1693-1695)cGa>cAa p.R565Q ARHGAP29_ENST00000482481.1_5'UTR NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 565 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) TGGAAGTTTTCGATGAAAGTC 0.388000 36 97 0 0 0.005524 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45566526 45566526 + Missense_Mutation SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr18:45566526G>A ENST00000588982.1 - 3 1454 c.953C>T c.(952-954)cCg>cTg p.P318L ZBTB7C_ENST00000586438.1_Missense_Mutation_p.P318L|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.P318L|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.P318L|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.P318L A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 318 Pro-rich. intracellular nucleic acid binding|zinc ion binding p.P318L(1) endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 AGGCCCCCCCGGCAGGTCAGG 0.617000 4 61 0 0 0.000602 0 0 PGAP1 80055 broad.mit.edu 37 2 197767387 197767387 + Silent SNP T T A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr2:197767387T>A ENST00000354764.3 - 5 843 c.729A>T c.(727-729)ggA>ggT p.G243G PGAP1_ENST00000409475.1_Silent_p.G243G|PGAP1_ENST00000409188.1_Silent_p.G201G|PGAP1_ENST00000485830.1_5'UTR NM_024989.3 NP_079265.2 Q75T13 PGAP1_HUMAN post-GPI attachment to proteins 1 243 attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1) 40 AATCCCGGAATCCTCCAGCTA 0.358000 14 54 0 0 0.004007 0 0 C9orf152 401546 broad.mit.edu 37 9 112963671 112963671 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr9:112963671C>T ENST00000400613.4 - 2 886 c.277G>A c.(277-279)Gag>Aag p.E93K C9orf152_ENST00000473442.1_Intron NM_001012993.2 NP_001013011.2 Q5JTZ5 CI152_HUMAN chromosome 9 open reading frame 152 93 NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 GAATCTGCCTCTTCCAGGGAC 0.547000 13 57 0 0 0.002450 0 0 LRRC37A 9884 broad.mit.edu 37 17 44408455 44408455 + Missense_Mutation SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr17:44408455G>C ENST00000320254.5 + 9 3815 c.3812G>C c.(3811-3813)aGa>aCa p.R1271T ARL17B_ENST00000575698.1_Intron|ARL17B_ENST00000570618.1_Intron|ARL17B_ENST00000434041.2_Intron|LRRC37A_ENST00000496930.1_Missense_Mutation_p.R309T|ARL17B_ENST00000575960.1_Intron|LRRC37A_ENST00000393465.3_Missense_Mutation_p.R1271T NM_014834.4 NP_055649.4 A6NMS7 L37A1_HUMAN leucine rich repeat containing 37A 1271 integral to membrane endometrium(1)|lung(2)|pancreas(6)|prostate(1)|skin(1) 11 Melanoma(429;0.211) BRCA - Breast invasive adenocarcinoma(366;0.232) GTGAGAGACAGATCGAAAGAC 0.468000 16 54 0 0 0.004990 0 0 TMEM8B 51754 broad.mit.edu 37 9 35853523 35853523 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr9:35853523C>T ENST00000377988.2 + 13 2393 c.1105C>T c.(1105-1107)Cgg>Tgg p.R369W TMEM8B_ENST00000377991.4_Missense_Mutation_p.R369W NM_001042590.2 NP_001036055.1 A6NDV4 TMM8B_HUMAN transmembrane protein 8B 369 cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1) 7 CGTCCGCCGCCGGCACTGCTA 0.607000 18 50 0 0 0.006122 0 0 WNK3 65267 broad.mit.edu 37 X 54337720 54337720 + Missense_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chrX:54337720C>G ENST00000354646.2 - 3 980 c.542G>C c.(541-543)cGa>cCa p.R181P WNK3_ENST00000375159.2_Missense_Mutation_p.R181P|WNK3_ENST00000375169.3_Missense_Mutation_p.R181P NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 181 Protein kinase. 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 GGTTAACTTTCGGTCCTGAAA 0.378000 8 18 0 0 0.004482 0 0 MTBP 27085 broad.mit.edu 37 8 121473491 121473491 + Missense_Mutation SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr8:121473491G>C ENST00000305949.1 + 9 1018 c.973G>C c.(973-975)Gag>Cag p.E325Q NM_022045.3 NP_071328.2 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa 325 cell cycle arrest NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) TATTGAATTTGAGTTGTATCC 0.323000 13 42 0 0 0.004007 0 0 LIF 3976 broad.mit.edu 37 22 30639779 30639779 + Missense_Mutation SNP C C A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr22:30639779C>A ENST00000249075.3 - 3 625 c.470G>T c.(469-471)aGc>aTc p.S157I LIF_ENST00000403987.3_3'UTR NM_002309.4 NP_002300.1 P15018 LIF_HUMAN leukemia inhibitory factor 157 immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding breast(1)|lung(3)|skin(3) 7 Epithelial(10;0.171) GTGGTACTTGCTGCACAGGCG 0.607000 24 59 1.17739e-12 1.90295e-12 0.005443 1 0 MUC5B 727897 broad.mit.edu 37 11 1271681 1271681 + Missense_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr11:1271681C>G ENST00000447027.1 + 31 13638 c.13580C>G c.(13579-13581)gCc>gGc p.A4527G MUC5B_ENST00000529681.1_Missense_Mutation_p.A4524G Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4524 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) AGCTTTACAGCCATCCCCTCC 0.627000 41 71 0 0 0.003610 0 0 FBXO46 23403 broad.mit.edu 37 19 46215504 46215504 + Missense_Mutation SNP T T C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr19:46215504T>C ENST00000317683.3 - 2 1383 c.1250A>G c.(1249-1251)gAc>gGc p.D417G NM_001080469.1 NP_001073938.1 Q6PJ61 FBX46_HUMAN F-box protein 46 417 protein binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1) 15 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201) CGGGGGCCCGTCCGGCCCGCG 0.726000 10 22 0 0 0.006214 0 0 CDH17 1015 broad.mit.edu 37 8 95172204 95172204 + Nonsense_Mutation SNP T T A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr8:95172204T>A ENST00000027335.3 - 12 1670 c.1546A>T c.(1546-1548)Aaa>Taa p.K516* CDH17_ENST00000441892.2_Nonsense_Mutation_p.K302*|CDH17_ENST00000450165.2_Nonsense_Mutation_p.K516* NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 516 Cadherin 5. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) TTTACCTTTTTAATTATGACA 0.378000 8 81 0 0 0.003080 0 0 UNC13C 440279 broad.mit.edu 37 15 54305735 54305735 + Missense_Mutation SNP A A T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr15:54305735A>T ENST00000545554.1 + 1 635 c.635A>T c.(634-636)aAg>aTg p.K212M UNC13C_ENST00000537900.1_Missense_Mutation_p.K212M|UNC13C_ENST00000260323.11_Missense_Mutation_p.K212M Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 212 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) ATAAGAAGTAAGTCTTTGGAC 0.438000 23 96 0 0 0.003330 0 0 ZNF676 163223 broad.mit.edu 37 19 22363886 22363886 + Missense_Mutation SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr19:22363886G>C ENST00000397121.2 - 3 950 c.633C>G c.(631-633)atC>atG p.I211M NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 211 KFSILTKHKVIHT -> WSSSLTEHKRIHA (in Ref. 2; BAC05174). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) GTTTAGTAAGGATTGAGAACT 0.353000 14 78 0 0 0.004990 0 0 ANKHD1 54882 broad.mit.edu 37 5 139825539 139825539 + Missense_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr5:139825539C>G ENST00000297183.6 + 6 1250 c.1126C>G c.(1126-1128)Cta>Gta p.L376V ANKHD1_ENST00000394722.3_Missense_Mutation_p.L365V|ANKHD1_ENST00000360839.2_Missense_Mutation_p.L376V|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.L376V|ANKHD1_ENST00000394723.3_Missense_Mutation_p.L376V NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAAAGTGCTCTAACACTTGC 0.348000 7 21 0 0 0.001984 0 0 IFT140 9742 broad.mit.edu 37 16 1614075 1614075 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr16:1614075C>T ENST00000426508.2 - 17 2353 c.1990G>A c.(1990-1992)Gaa>Aaa p.E664K IFT140_ENST00000439987.2_5'UTR NM_014714.3 NP_055529.2 Q96RY7 IF140_HUMAN intraflagellar transport 140 homolog (Chlamydomonas) 664 breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1) 53 Hepatocellular(780;0.219) TGCACGGCTTCGCATACAAAC 0.577000 14 58 0 0 0.001855 0 0 ATP8A1 10396 broad.mit.edu 37 4 42416643 42416643 + Splice_Site SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr4:42416643C>T ENST00000381668.5 - 36 3629 c.e36+1 ATP8A1_ENST00000264449.10_Splice_Site NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) CAAATACTCACGGAGCAGATT 0.388000 24 82 0 0 0.002780 0 0 TUBA3C 7278 broad.mit.edu 37 13 19753481 19753481 + Splice_Site SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr13:19753481C>T ENST00000400113.3 - 2 330 c.226_splice c.e2+1 p.D76_splice NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 76 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity p.D76N(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) GAGCACCTACCGACCACAGTG 0.587000 7 67 0 0 0.001984 0 0 PXDNL 137902 broad.mit.edu 37 8 52252221 52252221 + Missense_Mutation SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr8:52252221G>C ENST00000356297.4 - 21 4209 c.4109C>G c.(4108-4110)gCg>gGg p.A1370G PXDNL_ENST00000543296.1_Intron NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1370 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CTGAATTTCCGCTGCAAACGT 0.368000 21 108 0 0 0.002299 0 0 SYNJ1 8867 broad.mit.edu 37 21 34037326 34037326 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr21:34037326C>T ENST00000382499.2 - 18 2317 c.2318G>A c.(2317-2319)cGa>cAa p.R773Q SYNJ1_ENST00000382491.3_Missense_Mutation_p.R729Q|SYNJ1_ENST00000357345.3_Missense_Mutation_p.R734Q|SYNJ1_ENST00000433931.2_Missense_Mutation_p.R773Q|SYNJ1_ENST00000322229.7_Missense_Mutation_p.R734Q NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 734 Catalytic (Potential). inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 GAGATCGATTCGATAGTTGAA 0.348000 7 44 0 0 0.001984 0 0 C2orf50 130813 broad.mit.edu 37 2 11284117 11284117 + Silent SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr2:11284117G>A ENST00000381585.3 + 3 651 c.369G>A c.(367-369)acG>acA p.T123T C2orf50_ENST00000405022.3_Silent_p.T123T Q96LR7 CB050_HUMAN chromosome 2 open reading frame 50 123 breast(1)|large_intestine(1)|upper_aerodigestive_tract(1) 3 all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134) CCAGTTCCACGAACCAGGTTG 0.582000 10 61 0 0 0.000673 0 0 IL4I1 259307 broad.mit.edu 37 19 50393181 50393181 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr19:50393181C>T ENST00000595948.1 - 10 2136 c.1516G>A c.(1516-1518)Gcc>Acc p.A506T IL4I1_ENST00000391826.2_Missense_Mutation_p.A484T|IL4I1_ENST00000341114.3_Missense_Mutation_p.A506T NM_001258018.1 NP_001244947.1 Q96RQ9 OXLA_HUMAN interleukin 4 induced 1 484 lysosome L-amino-acid oxidase activity endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169) TGCGGGTAGGCGGTGTGCTCG 0.667000 OREG0025629 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 18 0 0 0.001168 0 0 NIN 51199 broad.mit.edu 37 14 51233551 51233551 + Missense_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr14:51233551C>G ENST00000245441.5 - 13 1682 c.1492G>C c.(1492-1494)Gag>Cag p.E498Q NIN_ENST00000389868.3_Missense_Mutation_p.E498Q|NIN_ENST00000324330.9_Missense_Mutation_p.E498Q|NIN_ENST00000453196.1_Missense_Mutation_p.E498Q|NIN_ENST00000530997.2_Missense_Mutation_p.E498Q|NIN_ENST00000382041.3_Missense_Mutation_p.E498Q|NIN_ENST00000382043.4_Missense_Mutation_p.E498Q NM_020921.3 NP_065972.3 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 498 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) GTCAGATTCTCATATTCTGCC 0.358000 T PDGFRB MPD 50 81 0 0 0.003610 0 0 SMARCD2 6603 broad.mit.edu 37 17 61910724 61910724 + Silent SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr17:61910724G>C ENST00000448276.2 - 11 1639 c.1374C>G c.(1372-1374)ctC>ctG p.L458L SMARCD2_ENST00000323347.10_Silent_p.L410L|SMARCD2_ENST00000225742.9_Silent_p.L383L NM_001098426.1 NP_001091896.1 Q92925 SMRD2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 458 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex protein binding|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1) 8 TGCTAAAACTGAGCATGAAAT 0.537000 23 64 0 0 0.002299 0 0 EIF4G1 1981 broad.mit.edu 37 3 184039136 184039136 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr3:184039136C>T ENST00000342981.4 + 9 1178 c.764C>T c.(763-765)tCa>tTa p.S255L EIF4G1_ENST00000434061.2_Missense_Mutation_p.S59L|EIF4G1_ENST00000435046.2_Missense_Mutation_p.S59L|EIF4G1_ENST00000319274.6_Missense_Mutation_p.S255L|EIF4G1_ENST00000392537.2_Missense_Mutation_p.S168L|EIF4G1_ENST00000411531.1_Missense_Mutation_p.S215L|EIF4G1_ENST00000441154.1_Missense_Mutation_p.S91L|EIF4G1_ENST00000350481.5_Missense_Mutation_p.S91L|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000427845.1_Missense_Mutation_p.S168L|EIF4G1_ENST00000424196.1_Missense_Mutation_p.S262L|EIF4G1_ENST00000352767.3_Missense_Mutation_p.S262L|EIF4G1_ENST00000382330.3_Missense_Mutation_p.S262L|EIF4G1_ENST00000346169.2_Missense_Mutation_p.S255L|EIF4G1_ENST00000414031.1_Missense_Mutation_p.S215L NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 255 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CATAGCCCTTCAGAATCCCAG 0.577000 23 99 0 0 0.002299 0 0 OTOF 9381 broad.mit.edu 37 2 26688665 26688665 + Silent SNP C C A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr2:26688665C>A ENST00000272371.2 - 38 4800 c.4674G>T c.(4672-4674)acG>acT p.T1558T OTOF_ENST00000402415.3_Silent_p.T868T|OTOF_ENST00000403946.3_Silent_p.T1558T|OTOF_ENST00000338581.6_Silent_p.T791T|OTOF_ENST00000339598.3_Silent_p.T791T NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1558 C2 4. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACACAGCCACCGTCAGCATGG 0.572000 11 51 1.08611e-07 1.64607e-07 0.000978 1 0 MAGEC2 51438 broad.mit.edu 37 X 141290746 141290746 + Missense_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chrX:141290746C>G ENST00000247452.3 - 3 1375 c.1028G>C c.(1027-1029)aGa>aCa p.R343T NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 343 cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) GGCCTGGACTCTCTCTTCCAC 0.453000 HNSCC(46;0.14) 30 135 0 0 0.001512 0 0 DFNB31 25861 broad.mit.edu 37 9 117187294 117187294 + Missense_Mutation SNP C C T rs138164522 TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr9:117187294C>T ENST00000362057.3 - 5 1345 c.1177G>A c.(1177-1179)Gat>Aat p.D393N DFNB31_ENST00000265134.6_Missense_Mutation_p.D10N|DFNB31_ENST00000374059.3_Missense_Mutation_p.D42N NM_001173425.1|NM_015404.3 NP_001166896.1|NP_056219.3 Q9P202 WHRN_HUMAN deafness, autosomal recessive 31 393 inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GTTGTGAGATCGCCAAGAAAC 0.537000 30 90 0 0 0.007291 0 0 CTSF 8722 broad.mit.edu 37 11 66332076 66332076 + Missense_Mutation SNP C C A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr11:66332076C>A ENST00000310325.5 - 11 1383 c.1274G>T c.(1273-1275)aGc>aTc p.S425I NM_003793.3 NP_003784.2 Q9UBX1 CATF_HUMAN cathepsin F 425 proteolysis lysosome cysteine-type endopeptidase activity endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 19 GAGCCAAGGGCTGCAGAGGGG 0.627000 9 3 0.000673444 0.000976717 0.000673 1 0 IQUB 154865 broad.mit.edu 37 7 123097516 123097516 + Silent SNP G G T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr7:123097516G>T ENST00000466202.1 - 12 2688 c.2112C>A c.(2110-2112)tcC>tcA p.S704S RP11-332K15.1_ENST00000419832.1_RNA|IQUB_ENST00000324698.6_Silent_p.S704S Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 704 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 ACCACTCCAGGGATTTATTCC 0.453000 24 112 8.24728e-16 1.34788e-15 0.004656 1 0 CDADC1 81602 broad.mit.edu 37 13 49852553 49852553 + Missense_Mutation SNP C C A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr13:49852553C>A ENST00000251108.6 + 7 1231 c.1118C>A c.(1117-1119)tCt>tAt p.S373Y CDADC1_ENST00000444959.1_Missense_Mutation_p.S175Y NM_001193478.1|NM_030911.3 NP_001180407.1|NP_112173.1 Q9BWV3 CDAC1_HUMAN cytidine and dCMP deaminase domain containing 1 373 hydrolase activity|zinc ion binding p.S373Y(1) endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 16 Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216) CCTGTTGGATCTGAGTATGCT 0.413000 34 115 4.31634e-10 6.77618e-10 0.002445 1 0 TPK1 27010 broad.mit.edu 37 7 144380027 144380027 + Missense_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr7:144380027C>G ENST00000360057.3 - 4 262 c.160G>C c.(160-162)Gat>Cat p.D54H TPK1_ENST00000538212.2_Missense_Mutation_p.M8I|TPK1_ENST00000378099.3_Missense_Mutation_p.D54H|TPK1_ENST00000549981.1_5'UTR NM_022445.3 NP_071890.2 Q9H3S4 TPK1_HUMAN thiamin pyrophosphokinase 1 54 thiamine diphosphate biosynthetic process cytosol ATP binding|kinase activity|thiamine diphosphokinase activity large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2) 19 Thiamine(DB00152) TCGGTGATATCATATAAGCGG 0.378000 42 142 0 0 0.001951 0 0 SCN11A 11280 broad.mit.edu 37 3 38991702 38991702 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr3:38991702C>T ENST00000302328.3 - 1 350 c.152G>A c.(151-153)cGg>cAg p.R51Q SCN11A_ENST00000444237.2_Missense_Mutation_p.R51Q|SCN11A_ENST00000456224.3_Missense_Mutation_p.R51Q|SCN11A_ENST00000450244.1_Missense_Mutation_p.R51Q NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 51 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) AAGCTGAGGCCGAGGCTGGGG 0.522000 13 157 0 0 0.003163 0 0 XIRP1 165904 broad.mit.edu 37 3 39227860 39227860 + Missense_Mutation SNP C C G rs139499086 by1000genomes TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr3:39227860C>G ENST00000340369.3 - 2 3305 c.3077G>C c.(3076-3078)gGa>gCa p.G1026A XIRP1_ENST00000396251.1_Missense_Mutation_p.G1026A|XIRP1_ENST00000421646.1_Intron NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1026 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CCCTTTCTGTCCAGAGTGACT 0.607000 14 56 0 0 0.002450 0 0 ATP2B4 493 broad.mit.edu 37 1 203696681 203696681 + Silent SNP G G A rs113186728 byFrequency TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr1:203696681G>A ENST00000357681.5 + 20 4414 c.3291G>A c.(3289-3291)ctG>ctA p.L1097L ATP2B4_ENST00000391954.2_Silent_p.L1061L|ATP2B4_ENST00000367218.3_Silent_p.L1097L|ATP2B4_ENST00000466407.1_3'UTR|ATP2B4_ENST00000367219.3_Silent_p.L1085L|ATP2B4_ENST00000341360.2_Silent_p.L1097L NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 1097 Calmodulin-binding subdomain A. ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) TCCGGGGCCTGAACCGTATCC 0.562000 32 75 0 0 0.001786 0 0 ATN1 1822 broad.mit.edu 37 12 7047686 7047686 + Missense_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr12:7047686C>G ENST00000356654.4 + 7 2797 c.2560C>G c.(2560-2562)Ctg>Gtg p.L854V ATN1_ENST00000396684.2_Missense_Mutation_p.L854V NM_001007026.1 NP_001007027.1 P54259 ATN1_HUMAN atrophin 1 854 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 ATGCCCATCTCTGGGCCCAGT 0.607000 OREG0021641 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 42 0 0 0.006214 0 0 SPNS2 124976 broad.mit.edu 37 17 4436304 4436304 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr17:4436304C>T ENST00000329078.3 + 7 1178 c.968C>T c.(967-969)tCg>tTg p.S323L NM_001124758.1 NP_001118230.1 Q8IVW8 SPNS2_HUMAN spinster homolog 2 (Drosophila) 323 lipid transport|transmembrane transport integral to membrane large_intestine(3)|lung(1)|prostate(1)|skin(1) 6 CTGGCCACGTCGGCTGTCTCC 0.662000 15 51 0 0 0.002450 0 0 RMDN3 55177 broad.mit.edu 37 15 41030186 41030186 + Missense_Mutation SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr15:41030186G>A ENST00000260385.6 - 8 2169 c.1102C>T c.(1102-1104)Ctt>Ttt p.L368F RMDN3_ENST00000338376.3_Missense_Mutation_p.L368F|RMDN3_ENST00000558560.1_5'UTR regulator of microtubule dynamics 3 CTGCCAAGAAGAAAGTGAGCC 0.458000 38 164 0 0 0.007835 0 0 NBAS 51594 broad.mit.edu 37 2 15629092 15629092 + Missense_Mutation SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr2:15629092G>A ENST00000281513.5 - 12 1034 c.1009C>T c.(1009-1011)Cac>Tac p.H337Y NBAS_ENST00000441750.1_Missense_Mutation_p.H337Y NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 337 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 CCTGAGAAGTGAATGGCTGCC 0.448000 14 62 0 0 0.001855 0 0 FZD9 8326 broad.mit.edu 37 7 72849297 72849297 + Silent SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr7:72849297C>G ENST00000344575.3 + 1 1189 c.960C>G c.(958-960)ctC>ctG p.L320L NM_003508.2 NP_003499.1 O00144 FZD9_HUMAN frizzled family receptor 9 320 B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1) 14 Lung NSC(55;0.0659)|all_lung(88;0.152) TCCTACTGCTCTACTACTTCG 0.667000 14 62 0 0 0.002450 0 0 HIST1H2BH 8345 broad.mit.edu 37 6 26252092 26252092 + Missense_Mutation SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr6:26252092G>C ENST00000356350.2 + 1 214 c.214G>C c.(214-216)Gag>Cag p.E72Q NM_003524.2 NP_003515.1 Q93079 H2B1H_HUMAN histone cluster 1, H2bh 72 nucleosome assembly nucleosome|nucleus DNA binding NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 17 CGATATCTTCGAGCGCATCGC 0.577000 22 142 0 0 0.001882 0 0 CLEC4F 165530 broad.mit.edu 37 2 71043722 71043722 + Missense_Mutation SNP A A G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr2:71043722A>G ENST00000272367.2 - 4 867 c.791T>C c.(790-792)gTc>gCc p.V264A CLEC4F_ENST00000426626.1_Missense_Mutation_p.V264A NM_001258027.1|NM_173535.2 NP_001244956.1|NP_775806.2 Q8N1N0 CLC4F_HUMAN C-type lectin domain family 4, member F 264 endocytosis integral to membrane receptor activity|sugar binding endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 37 CAAGTCATTGACACTATCTAG 0.428000 29 85 0 0 0.007291 0 0 SLC8B1 80024 broad.mit.edu 37 12 113758155 113758155 + Silent SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr12:113758155G>A ENST00000552014.1 - 8 1190 c.675C>T c.(673-675)gtC>gtT p.V225V SLC24A6_ENST00000202831.3_Silent_p.V225V|SLC24A6_ENST00000553238.1_Intron|SLC24A6_ENST00000546737.1_Intron Q6J4K2 NCKX6_HUMAN 225 response to stimulus|sodium ion transport integral to membrane|plasma membrane calcium:cation antiporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1) 16 ATGCCAGGGTGACCCTGCCAC 0.602000 44 159 0 0 0.003214 0 0 WDR52 55779 broad.mit.edu 37 3 113152421 113152421 + Missense_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr3:113152421C>G ENST00000393845.2 - 2 157 c.91G>C c.(91-93)Gaa>Caa p.E31Q WDR52_ENST00000295868.2_Missense_Mutation_p.E31Q|WDR52-AS1_ENST00000498480.1_RNA NM_001164496.1 NP_001157968.1 Q96MT7 WDR52_HUMAN WD repeat domain 52 31 breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 CATCTTGATTCTGATTTAGAA 0.313000 17 65 0 0 0.006122 0 0 IL18R1 8809 broad.mit.edu 37 2 102984411 102984411 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr2:102984411C>T ENST00000409599.1 + 4 541 c.185C>T c.(184-186)tCa>tTa p.S62L IL18R1_ENST00000233957.1_Missense_Mutation_p.S62L|IL18R1_ENST00000334376.3_Missense_Mutation_p.S62L Q13478 IL18R_HUMAN interleukin 18 receptor 1 62 Ig-like C2-type 1. innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity p.S62L(1) breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 AGCAGTGGATCACAGGAACAT 0.443000 15 45 0 0 0.002450 0 0 GNAL 2774 broad.mit.edu 37 18 11752499 11752499 + Missense_Mutation SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr18:11752499G>A ENST00000423027.3 + 1 388 c.67G>A c.(67-69)Gag>Aag p.E23K GNAL_ENST00000269162.5_Missense_Mutation_p.E23K|GNAL_ENST00000535121.1_Missense_Mutation_p.E23K|GNAL_ENST00000334049.6_Intron P38405 GNAL_HUMAN guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type 23 activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission heterotrimeric G-protein complex adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1) 12 AGAACGACGCGAGGCCAACAA 0.612000 18 71 0 0 0.006122 0 0 MX1 4599 broad.mit.edu 37 21 42824567 42824567 + Missense_Mutation SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr21:42824567G>C ENST00000398600.2 + 18 2554 c.1529G>C c.(1528-1530)aGa>aCa p.R510T MX1_ENST00000455164.2_Missense_Mutation_p.R510T|MX1_ENST00000398598.3_Missense_Mutation_p.R510T|MX1_ENST00000288383.6_Missense_Mutation_p.R487T NM_001144925.1 NP_001138397.1 P20591 MX1_HUMAN myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) 510 induction of apoptosis|response to virus|type I interferon-mediated signaling pathway cytosol GTP binding|GTPase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 27 Prostate(19;3.18e-07)|all_epithelial(19;0.0277) GAAGACATTAGAGCAGAACAA 0.428000 17 71 0 0 0.006122 0 0 COL4A3BP 10087 broad.mit.edu 37 5 74722220 74722220 + Silent SNP A A T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr5:74722220A>T ENST00000380494.5 - 5 1109 c.816T>A c.(814-816)tcT>tcA p.S272S COL4A3BP_ENST00000261415.7_Silent_p.S144S|COL4A3BP_ENST00000405807.4_Silent_p.S144S NM_001130105.1 NP_001123577.1 Q9Y5P4 C43BP_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) binding protein 144 ER to Golgi ceramide transport|immune response cytosol|endoplasmic reticulum membrane|Golgi apparatus ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1) 16 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;1e-53) TGGATGTTGCAGAGTAGCCAC 0.398000 6 82 0 0 0.004482 0 0 GRP 2922 broad.mit.edu 37 18 56897646 56897646 + Missense_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr18:56897646C>G ENST00000529320.2 + 3 468 c.374C>G c.(373-375)tCt>tGt p.S125C GRP_ENST00000256857.2_Silent_p.L131L|GRP_ENST00000420468.2_Intron NM_001012513.1 NP_001012531.1 P07492 GRP_HUMAN gastrin-releasing peptide 0 neuropeptide signaling pathway extracellular space neuropeptide hormone activity large_intestine(1)|lung(3) 4 Colorectal(73;0.0946) TTGGTAGACTCTCTGCTCCAG 0.423000 13 59 0 0 0.002450 0 0 DMD 1756 broad.mit.edu 37 X 32366610 32366610 + Missense_Mutation SNP G G T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chrX:32366610G>T ENST00000357033.4 - 38 5567 c.5361C>A c.(5359-5361)aaC>aaA p.N1787K DMD_ENST00000378677.2_Missense_Mutation_p.N1783K NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 1787 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GTATATCTGAGTTAAACTGCT 0.333000 9 40 1.12685e-05 1.66743e-05 0.004482 1 0 OR13A1 79290 broad.mit.edu 37 10 45799190 45799190 + Silent SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr10:45799190C>T ENST00000553795.1 - 4 989 c.681G>A c.(679-681)gtG>gtA p.V227V OR13A1_ENST00000374401.2_Silent_p.V227V|OR13A1_ENST00000536058.1_Silent_p.V227V NM_001004297.2 NP_001004297.2 Q8NGR1 O13A1_HUMAN olfactory receptor, family 13, subfamily A, member 1 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1) 19 TCAGGAAGTTCACTATGCCGT 0.552000 14 83 0 0 0.003163 0 0 IGKV2D-29 28882 broad.mit.edu 37 2 89986918 89986918 + RNA SNP C C A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr2:89986918C>A ENST00000491977.1 + 0 229 GAAGCCAGGCCAGCCTCCACA 0.532000 11 49 6.40141e-05 9.37732e-05 0.000978 1 0 PLA2G4D 283748 broad.mit.edu 37 15 42375422 42375422 + Missense_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr15:42375422C>G ENST00000290472.3 - 8 740 c.646G>C c.(646-648)Gag>Cag p.E216Q NM_178034.3 NP_828848.3 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD (cytosolic) 216 phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) AGCTCTGTCTCTAGGGCTGCC 0.632000 10 37 0 0 0.006214 0 0 C9orf171 389799 broad.mit.edu 37 9 135413023 135413023 + Missense_Mutation SNP G G T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr9:135413023G>T ENST00000343036.2 + 5 716 c.668G>T c.(667-669)cGg>cTg p.R223L C9orf171_ENST00000393216.2_Missense_Mutation_p.R187L NM_207417.1 NP_997300.1 Q6ZQR2 CI171_HUMAN chromosome 9 open reading frame 171 223 p.R223Q(1) large_intestine(7)|lung(9)|ovary(4)|prostate(3) 23 CTGCAGCACCGGTACCTGCAG 0.572000 21 94 5.45024e-15 8.87437e-15 0.003330 1 0 CELSR1 9620 broad.mit.edu 37 22 46780555 46780555 + Missense_Mutation SNP G G T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr22:46780555G>T ENST00000262738.3 - 20 6767 c.6768C>A c.(6766-6768)ttC>ttA p.F2256L NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 2256 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CCGTAAAGTTGAACTTGTCAA 0.522000 7 37 0.000274275 0.000400442 0.004482 1 0 CYP4B1 1580 broad.mit.edu 37 1 47264771 47264771 + Silent SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr1:47264771C>T ENST00000271153.4 + 1 54 c.18C>T c.(16-18)ctC>ctT p.L6L CYP4B1_ENST00000371919.4_Silent_p.L6L|CYP4B1_ENST00000371923.4_Silent_p.L6L|CYP4B1_ENST00000546128.1_Intron P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, polypeptide 1 6 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) CCAGCTTCCTCTCCCTGAGCT 0.572000 4 22 0 0 0.000248 0 0 AHI1 54806 broad.mit.edu 37 6 135787271 135787271 + Nonsense_Mutation SNP C C A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr6:135787271C>A ENST00000367800.4 - 5 646 c.430G>T c.(430-432)Gaa>Taa p.E144* AHI1_ENST00000327035.6_Nonsense_Mutation_p.E144*|AHI1_ENST00000457866.2_Nonsense_Mutation_p.E144* NM_001134830.1 NP_001128302.1 Q8N157 AHI1_HUMAN Abelson helper integration site 1 144 adherens junction|cilium|microtubule basal body NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1) 37 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) TCAGGAGTTTCCGGTTTCAGG 0.438000 37 107 3.03874e-20 5.00364e-20 0.003271 1 0 HNRNPUL2 221092 broad.mit.edu 37 11 62484600 62484600 + Missense_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr11:62484600C>G ENST00000301785.5 - 11 2034 c.1842G>C c.(1840-1842)gaG>gaC p.E614D RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.E614D NM_001079559.2 NP_001073027.1 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 2 614 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 CTTCCTCCTTCTCCAGCTCCC 0.498000 3 41 0 0 0.004672 0 0 TRIP12 9320 broad.mit.edu 37 2 230653558 230653558 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr2:230653558C>T ENST00000283943.5 - 31 4747 c.4569G>A c.(4567-4569)atG>atA p.M1523I TRIP12_ENST00000389044.4_Missense_Mutation_p.M1571I|TRIP12_ENST00000389045.3_Missense_Mutation_p.M1253I NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1523 K-box. protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) TGTTTCCTGTCATGATTACTA 0.378000 32 92 0 0 0.003271 0 0 ZNF714 148206 broad.mit.edu 37 19 21300910 21300910 + Nonsense_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr19:21300910C>G ENST00000596143.1 + 5 1765 c.1440C>G c.(1438-1440)taC>taG p.Y480* ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron NM_182515.3 NP_872321.2 Q96N38 ZN714_HUMAN zinc finger protein 714 481 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|urinary_tract(2) 18 AGAAATCTTACAAATGTGAAG 0.393000 10 35 0 0 0.000978 0 0 TJP1 7082 broad.mit.edu 37 15 30008860 30008860 + Missense_Mutation SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr15:30008860G>A ENST00000346128.6 - 23 4631 c.4157C>T c.(4156-4158)cCa>cTa p.P1386L TJP1_ENST00000400011.2_Missense_Mutation_p.P1310L|TJP1_ENST00000356107.6_Missense_Mutation_p.P1386L|TJP1_ENST00000545208.2_Missense_Mutation_p.P1306L NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 1386 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) AGAATGCGCTGGCTTTGCAGG 0.408000 12 43 0 0 0.001855 0 0 SLC7A13 157724 broad.mit.edu 37 8 87230021 87230021 + Missense_Mutation SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr8:87230021G>A ENST00000297524.3 - 3 960 c.857C>T c.(856-858)tCa>tTa p.S286L SLC7A13_ENST00000520624.1_5'UTR|SLC7A13_ENST00000419776.2_Missense_Mutation_p.S277L NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 286 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 CCATGCTAATGAGGGAAAAGC 0.333000 27 73 0 0 0.004656 0 0 INO80 54617 broad.mit.edu 37 15 41350928 41350928 + Nonsense_Mutation SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr15:41350928G>A ENST00000361937.3 - 16 2318 c.1894C>T c.(1894-1896)Cag>Tag p.Q632* INO80_ENST00000401393.3_Nonsense_Mutation_p.Q632* Q9ULG1 INO80_HUMAN INO80 complex subunit 632 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase ATP-binding. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 ACCACCAGCTGATAGCTGGTA 0.453000 21 71 0 0 0.002299 0 0 MCM3AP 8888 broad.mit.edu 37 21 47665030 47665030 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr21:47665030C>T ENST00000397708.1 - 24 4983 c.4729G>A c.(4729-4731)Gaa>Aaa p.E1577K MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1577K|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000414659.1_RNA O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 1577 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) ATCCCGTCTTCGACGTACTGA 0.542000 16 56 0 0 0.004990 0 0 ACRC 93953 broad.mit.edu 37 X 70824232 70824232 + Missense_Mutation SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chrX:70824232G>A ENST00000373695.1 + 7 1642 c.1105G>A c.(1105-1107)Gat>Aat p.D369N ACRC_ENST00000373696.3_Missense_Mutation_p.D369N Q96QF7 ACRC_HUMAN acidic repeat containing 369 nucleus autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) TTCATCTGATGATGCTGGTGA 0.483000 11 43 0 0 0.000673 0 0 PRC1 9055 broad.mit.edu 37 15 91522476 91522476 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr15:91522476C>T ENST00000361188.5 - 8 2230 c.1019G>A c.(1018-1020)cGg>cAg p.R340Q PRC1_ENST00000361919.3_Missense_Mutation_p.R340Q|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Missense_Mutation_p.R340Q|PRC1_ENST00000442656.2_Missense_Mutation_p.R299Q O43663 PRC1_HUMAN protein regulator of cytokinesis 1 340 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) GTTTTTTAACCGCACAATCTC 0.413000 8 66 0 0 0.003080 0 0 RASA2 5922 broad.mit.edu 37 3 141292835 141292835 + Nonsense_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr3:141292835C>G ENST00000286364.3 + 14 1444 c.1409C>G c.(1408-1410)tCa>tGa p.S470* RASA2_ENST00000452898.1_Nonsense_Mutation_p.S470* Q15283 RASA2_HUMAN RAS p21 protein activator 2 470 Ras-GAP. intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm metal ion binding|Ras GTPase activator activity NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 34 ATTGTAAAATCAAGTATGAGC 0.348000 7 36 0 0 0.001984 0 0 CSNK1E 1454 broad.mit.edu 37 22 38690154 38690154 + Silent SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr22:38690154G>A ENST00000396832.1 - 9 1439 c.1179C>T c.(1177-1179)ctC>ctT p.L393L CSNK1E_ENST00000359867.3_Silent_p.L393L|CSNK1E_ENST00000403904.1_Silent_p.L393L|CSNK1E_ENST00000400206.2_Silent_p.L393L NM_152221.2 NP_689407.1 P49674 KC1E_HUMAN casein kinase 1, epsilon 393 DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 Melanoma(58;0.045) GCCGCCCAGTGAGGTCTGAGG 0.647000 6 38 0 0 0.001168 0 0 CXCR2 3579 broad.mit.edu 37 2 218999995 218999995 + Missense_Mutation SNP G G C rs146545386 TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr2:218999995G>C ENST00000318507.2 + 3 898 c.471G>C c.(469-471)caG>caC p.Q157H NM_001557.3 NP_001548.1 P25025 CXCR2_HUMAN chemokine (C-X-C motif) receptor 2 157 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1) 22 CACTGACCCAGAAGCGCTACT 0.527000 15 36 0 0 0.003163 0 0 FZD9 8326 broad.mit.edu 37 7 72849453 72849453 + Silent SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr7:72849453C>T ENST00000344575.3 + 1 1345 c.1116C>T c.(1114-1116)gtC>gtT p.V372V NM_003508.2 NP_003499.1 O00144 FZD9_HUMAN frizzled family receptor 9 372 B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1) 14 Lung NSC(55;0.0659)|all_lung(88;0.152) AGACCATCGTCATCCTGACCC 0.662000 24 42 0 0 0.002299 0 0 TTC32 130502 broad.mit.edu 37 2 20101573 20101573 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr2:20101573C>T ENST00000333610.3 - 1 174 c.43G>A c.(43-45)Gcc>Acc p.A15T TTC32_ENST00000402414.1_Missense_Mutation_p.A15T NM_001008237.1 NP_001008238.1 Q5I0X7 TTC32_HUMAN tetratricopeptide repeat domain 32 15 identical protein binding kidney(2)|large_intestine(1)|lung(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGAGCCTGGGCGAGTGTTAGG 0.597000 10 82 0 0 0.000673 0 0 MARS2 92935 broad.mit.edu 37 2 198570406 198570406 + Missense_Mutation SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr2:198570406G>C ENST00000282276.6 + 1 320 c.277G>C c.(277-279)Gac>Cac p.D93H AC011997.1_ENST00000409845.1_Intron NM_138395.3 NP_612404.1 Q96GW9 SYMM_HUMAN methionyl-tRNA synthetase 2, mitochondrial 93 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 22 L-Methionine(DB00134) CACTGGTACCGACGAGCACGG 0.667000 8 26 0 0 0.003080 0 0 ZNF430 80264 broad.mit.edu 37 19 21240040 21240040 + Missense_Mutation SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr19:21240040G>C ENST00000261560.5 + 5 1107 c.926G>C c.(925-927)aGa>aCa p.R309T NM_001172671.1|NM_025189.3 NP_001166142.1|NP_079465.3 Q9H8G1 ZN430_HUMAN zinc finger protein 430 309 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 ACACATAAAAGAATTCATACT 0.398000 21 75 0 0 0.002299 0 0 PKDREJ 10343 broad.mit.edu 37 22 46657509 46657509 + Missense_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr22:46657509C>G ENST00000253255.5 - 1 1710 c.1711G>C c.(1711-1713)Gct>Cct p.A571P NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 571 REJ. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) ATTCCTTTAGCTGGATTAATT 0.368000 7 51 0 0 0.001984 0 0 FOXJ3 22887 broad.mit.edu 37 1 42744162 42744162 + Missense_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr1:42744162C>G ENST00000372572.1 - 5 537 c.226G>C c.(226-228)Gat>Cat p.D76H FOXJ3_ENST00000372573.1_Missense_Mutation_p.D76H|FOXJ3_ENST00000361776.1_Missense_Mutation_p.D76H|FOXJ3_ENST00000361346.1_Missense_Mutation_p.D76H|FOXJ3_ENST00000545068.1_Missense_Mutation_p.D76H NM_001198851.1 NP_001185780.1 Q9UPW0 FOXJ3_HUMAN forkhead box J3 76 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GGTTTCCCATCTTTGTGCTGT 0.388000 15 78 0 0 0.003163 0 0 TBC1D9 23158 broad.mit.edu 37 4 141543569 141543569 + Missense_Mutation SNP T T A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr4:141543569T>A ENST00000442267.2 - 21 3655 c.3581A>T c.(3580-3582)cAg>cTg p.Q1194L NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 1194 intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) CGCCGTGCCCTGGCCGCTCCG 0.667000 6 32 0 0 0.001168 0 0 RIPK4 54101 broad.mit.edu 37 21 43161791 43161791 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr21:43161791C>T ENST00000352483.2 - 9 1770 c.1706G>A c.(1705-1707)cGg>cAg p.R569Q RIPK4_ENST00000544709.1_Missense_Mutation_p.R458Q|RIPK4_ENST00000332512.3_Missense_Mutation_p.R521Q|RIPK4_ENST00000542057.1_Missense_Mutation_p.R458Q Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 521 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity p.R569Q(1)|p.R521Q(1) 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 CAACAGCAGCCGTGTGCTAGA 0.627000 9 44 0 0 0.006214 0 0 LLGL2 3993 broad.mit.edu 37 17 73564865 73564865 + Missense_Mutation SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr17:73564865G>C ENST00000392550.3 + 12 1384 c.1267G>C c.(1267-1269)Gat>Cat p.D423H LLGL2_ENST00000167462.5_Missense_Mutation_p.D423H|LLGL2_ENST00000577200.1_Missense_Mutation_p.D423H NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) 423 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) GTGGCCAATTGATGGTGGCAC 0.597000 6 40 0 0 0.001168 0 0 DUSP6 1848 broad.mit.edu 37 12 89745576 89745576 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr12:89745576C>T ENST00000279488.7 - 1 1472 c.241G>A c.(241-243)Gag>Aag p.E81K DUSP6_ENST00000308385.6_Missense_Mutation_p.E81K NM_001946.2 NP_001937.2 Q16828 DUS6_HUMAN dual specificity phosphatase 6 81 Rhodanese. dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity large_intestine(5)|lung(8)|skin(2)|urinary_tract(1) 16 TCCCGGTCCTCGCCGCGCGTG 0.677000 4 28 0 0 0.000602 0 0 COQ5 84274 broad.mit.edu 37 12 120941685 120941685 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr12:120941685C>T ENST00000288532.6 - 7 926 c.886G>A c.(886-888)Gag>Aag p.E296K COQ5_ENST00000445328.2_Missense_Mutation_p.E222K NM_032314.3 NP_115690.3 Q5HYK3 COQ5_HUMAN coenzyme Q5 homolog, methyltransferase (S. cerevisiae) 296 ubiquinone biosynthetic process mitochondrion methyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3) 20 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCCTTGAACTCTTCCTGAAAC 0.413000 20 70 0 0 0.007413 0 0 RAB8B 51762 broad.mit.edu 37 15 63481934 63481934 + Silent SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr15:63481934C>T ENST00000321437.4 + 1 267 c.111C>T c.(109-111)ttC>ttT p.F37F RAB8B_ENST00000448330.2_Silent_p.F37F NM_016530.2 NP_057614.1 Q92930 RAB8B_HUMAN RAB8B, member RAS oncogene family 37 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 9 ACACCACCTTCATCTCCACCA 0.647000 9 35 0 0 0.000673 0 0 SCAND3 114821 broad.mit.edu 37 6 28554275 28554275 + Missense_Mutation SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr6:28554275G>A ENST00000452236.2 - 1 837 c.220C>T c.(220-222)Cgg>Tgg p.R74W SCAND3_ENST00000530247.1_Intron NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 74 SCAN box. DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 CAAAGTTCCCGCAGTTGACTC 0.542000 17 77 0 0 0.006122 0 0 BCL11A 53335 broad.mit.edu 37 2 60687704 60687704 + Missense_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr2:60687704C>G ENST00000335712.6 - 4 2570 c.2343G>C c.(2341-2343)caG>caC p.Q781H BCL11A_ENST00000358510.4_Missense_Mutation_p.Q747H|BCL11A_ENST00000538214.1_Missense_Mutation_p.Q747H|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Intron NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 781 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) GCTTGCTACTCTGGGCACAGG 0.493000 T IGH@ B-CLL 22 71 0 0 0.001882 0 0 DNMT1 1786 broad.mit.edu 37 19 10254621 10254621 + Silent SNP G G A rs150359172 by1000genomes TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr19:10254621G>A ENST00000340748.4 - 28 3124 c.2889C>T c.(2887-2889)ccC>ccT p.P963P DNMT1_ENST00000359526.4_Silent_p.P979P|DNMT1_ENST00000540357.1_Silent_p.P963P P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 963 chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) CCTCATCCACGGGCTCCTTCC 0.562000 25 141 0 0 0.004656 0 0 XKR3 150165 broad.mit.edu 37 22 17288845 17288845 + Nonsense_Mutation SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr22:17288845G>C ENST00000331428.5 - 2 221 c.119C>G c.(118-120)tCa>tGa p.S40* NM_175878.3 NP_787074.2 Q5GH77 XKR3_HUMAN XK, Kell blood group complex subunit-related family, member 3 40 integral to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) GAGAACAGTTGAGAAGATAAT 0.388000 15 59 0 0 0.004007 0 0 RABL3 285282 broad.mit.edu 37 3 120413005 120413005 + Missense_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr3:120413005C>G ENST00000273375.3 - 6 630 c.601G>C c.(601-603)Gat>Cat p.D201H RABL3_ENST00000483733.1_Intron|RABL3_ENST00000491398.1_5'UTR NM_173825.3 NP_776186.2 Q5HYI8 RABL3_HUMAN RAB, member of RAS oncogene family-like 3 201 Small GTPase-like. small GTPase mediated signal transduction GTP binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10) 17 GBM - Glioblastoma multiforme(114;0.151) ATTACCTTATCAAAAAACCTA 0.299000 33 95 0 0 0.004289 0 0 OR1S1 219959 broad.mit.edu 37 11 57982300 57982300 + Silent SNP G G T rs139788490 TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr11:57982300G>T ENST00000309433.6 + 1 84 c.84G>T c.(82-84)ctG>ctT p.L28L NM_001004458.1 NP_001004458.1 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, member 1 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3) 48 Breast(21;0.0589) TCATTCTCCTGGGATTTTTCA 0.423000 10 108 1.76689e-08 2.73463e-08 0.006214 1 0 ZFP3 124961 broad.mit.edu 37 17 4996049 4996049 + Missense_Mutation SNP G G T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr17:4996049G>T ENST00000318833.3 + 2 1586 c.1250G>T c.(1249-1251)gGa>gTa p.G417V NM_153018.2 NP_694563.1 Q96NJ6 ZFP3_HUMAN ZFP3 zinc finger protein 417 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1) 20 ATTCATACTGGAGAGAAACCC 0.428000 15 63 2.61681e-11 4.19841e-11 0.002450 1 0 KIAA0319 9856 broad.mit.edu 37 6 24596166 24596166 + Missense_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr6:24596166C>G ENST00000535378.1 - 4 1351 c.709G>C c.(709-711)Gag>Cag p.E237Q KIAA0319_ENST00000537886.1_Missense_Mutation_p.E246Q|KIAA0319_ENST00000430948.2_Missense_Mutation_p.E201Q|KIAA0319_ENST00000378214.3_Missense_Mutation_p.E246Q|KIAA0319_ENST00000543707.1_Missense_Mutation_p.E246Q NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 246 negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 TCCAACACCTCTCCTGAAGAT 0.527000 20 91 0 0 0.001216 0 0 FAM169A 26049 broad.mit.edu 37 5 74077286 74077286 + Nonstop_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr5:74077286C>G ENST00000389156.4 - 13 2102 c.2012G>C c.(2011-2013)tGa>tCa p.*671S FAM169A_ENST00000510496.1_Nonstop_Mutation_p.*611S|FAM169A_ENST00000380515.3_3'UTR NM_015566.2 NP_056381.1 Q9Y6X4 F169A_HUMAN family with sequence similarity 169, member A 0 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 27 CTTCTTCCTTCAGGTCAGCTT 0.388000 29 120 0 0 0.002096 0 0 NSD1 64324 broad.mit.edu 37 5 176721768 176721768 + Missense_Mutation SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr5:176721768G>C ENST00000439151.2 + 23 7444 c.7399G>C c.(7399-7401)Gag>Cag p.E2467Q NSD1_ENST00000361032.4_Missense_Mutation_p.E2364Q|NSD1_ENST00000347982.4_Missense_Mutation_p.E2198Q|NSD1_ENST00000354179.4_Missense_Mutation_p.E2198Q NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 2467 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) TCGCCAGAAGGAGCGGGCAGC 0.502000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 13 60 0 0 0.002450 0 0 ATP11C 286410 broad.mit.edu 37 X 138871517 138871517 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chrX:138871517C>T ENST00000370557.1 - 13 2364 c.1337G>A c.(1336-1338)gGa>gAa p.G446E ATP11C_ENST00000361648.2_Missense_Mutation_p.G449E|ATP11C_ENST00000370543.1_Missense_Mutation_p.G449E|ATP11C_ENST00000359686.2_Missense_Mutation_p.G449E|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000327569.3_Missense_Mutation_p.G449E Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C 449 ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) TGTTAAAGTTCCATCAGTTTG 0.328000 11 44 0 0 0.001368 0 0 MGAT5 4249 broad.mit.edu 37 2 135093845 135093845 + Missense_Mutation SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr2:135093845G>A ENST00000409645.1 + 6 883 c.631G>A c.(631-633)Gat>Aat p.D211N MGAT5_ENST00000281923.2_Missense_Mutation_p.D211N Q09328 MGT5A_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase 211 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3) 36 BRCA - Breast invasive adenocarcinoma(221;0.0964) CGAAGAAGCTGATCATAATTC 0.363000 11 20 0 0 0.000978 0 0 LZTFL1 54585 broad.mit.edu 37 3 45874556 45874556 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr3:45874556C>T ENST00000296135.6 - 5 616 c.442G>A c.(442-444)Gaa>Aaa p.E148K LZTFL1_ENST00000536047.1_Missense_Mutation_p.E131K|LZTFL1_ENST00000490463.1_5'UTR|LZTFL1_ENST00000539217.1_Missense_Mutation_p.E144K NM_001276378.1|NM_020347.2 NP_001263307.1|NP_065080.1 Q9NQ48 LZTL1_HUMAN leucine zipper transcription factor-like 1 148 endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 8 BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208) TTTAGGAGTTCTGCTGTTCCA 0.383000 9 80 0 0 0.004482 0 0 MACF1 23499 broad.mit.edu 37 1 39826464 39826464 + Splice_Site SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr1:39826464G>C ENST00000564288.1 + 48 13021 c.e48-1 MACF1_ENST00000289893.4_Splice_Site|MACF1_ENST00000317713.7_Splice_Site|MACF1_ENST00000539005.1_Splice_Site|MACF1_ENST00000361689.2_Splice_Site|MACF1_ENST00000372915.3_Splice_Site|MACF1_ENST00000476350.1_Splice_Site|MACF1_ENST00000567887.1_Splice_Site|MACF1_ENST00000545844.1_Splice_Site Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TGATTTTTCAGATTCCATACT 0.348000 8 36 0 0 0.006214 0 0 TP53 7157 broad.mit.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr17:7578212G>A ENST00000420246.2 - 6 769 c.637C>T c.(637-639)Cga>Tga p.R213* TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 213 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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) ACACTATGTCGAAAAGTGTTT 0.532000 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) 8 25 0 0 0.004482 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125299536 125299536 + Silent SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chrX:125299536G>A ENST00000538699.1 - 2 452 c.372C>T c.(370-372)gaC>gaT p.D124D DCAF12L2_ENST00000360028.2_Silent_p.D124D NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 124 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 CTGACTGCACGTCCACCACAA 0.642000 11 91 0 0 0.000673 0 0 TSGA10 80705 broad.mit.edu 37 2 99695250 99695250 + Missense_Mutation SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr2:99695250G>C ENST00000393483.3 - 12 1598 c.754C>G c.(754-756)Cag>Gag p.Q252E TSGA10_ENST00000478090.1_Intron|TSGA10_ENST00000539964.1_Missense_Mutation_p.Q252E|TSGA10_ENST00000542655.1_Missense_Mutation_p.Q252E|TSGA10_ENST00000410001.1_Missense_Mutation_p.Q252E|TSGA10_ENST00000355053.4_Missense_Mutation_p.Q252E NM_025244.2 NP_079520.1 Q9BZW7 TSG10_HUMAN testis specific, 10 252 spermatogenesis cytoplasm|nuclear membrane NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 34 TCTTCTCGCTGTGCAATATTT 0.328000 4 32 0 0 0.000248 0 0 VASH2 79805 broad.mit.edu 37 1 213147383 213147383 + Silent SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr1:213147383C>T ENST00000366968.4 + 8 1121 c.771C>T c.(769-771)ccC>ccT p.P257P VASH2_ENST00000366965.2_Silent_p.P278P|VASH2_ENST00000366966.2_Silent_p.P257P|VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366967.2_Silent_p.P218P|VASH2_ENST00000517399.1_Silent_p.P322P NM_001136474.1 NP_001129946.1 Q86V25 VASH2_HUMAN vasohibin 2 322 positive regulation of angiogenesis|positive regulation of endothelial cell proliferation cytoplasm endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986) AGGCAAGCCCCCCGAGGAGGC 0.577000 5 56 0 0 0.001168 0 0 CACNA1E 777 broad.mit.edu 37 1 181727186 181727186 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr1:181727186C>T ENST00000526775.1 + 30 4541 c.4376C>T c.(4375-4377)cCg>cTg p.P1459L CACNA1E_ENST00000358338.5_Missense_Mutation_p.P1410L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.P1478L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.P1429L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1459L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P1478L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.P1085L NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1478 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.P1478L(2) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GTGGTGTCTCCGTCCTTTGAG 0.557000 20 85 0 0 0.007413 0 0 SHC3 53358 broad.mit.edu 37 9 91653163 91653163 + Silent SNP G G T rs146503115 TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr9:91653163G>T ENST00000375835.4 - 11 1707 c.1401C>A c.(1399-1401)ccC>ccA p.P467P SHC3_ENST00000375830.1_Silent_p.P15P|SHC3_ENST00000375831.1_Silent_p.P15P NM_016848.5 NP_058544.3 Q92529 SHC3_HUMAN SHC (Src homology 2 domain containing) transforming protein 3 467 CH1. central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol protein binding|signal transducer activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3) 28 TGCTTAACACGGGCCCCAAGG 0.502000 19 69 2.4624e-09 3.82457e-09 0.001216 1 0 RAB23 51715 broad.mit.edu 37 6 57075104 57075104 + Missense_Mutation SNP C C A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr6:57075104C>A ENST00000317483.3 - 2 694 c.75G>T c.(73-75)atG>atT p.M25I RAB23_ENST00000468148.1_Missense_Mutation_p.M25I NM_016277.3 NP_057361.3 Q9ULC3 RAB23_HUMAN RAB23, member RAS oncogene family 25 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 8 Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) ATCGCTGAATCATACTTGATT 0.378000 21 79 7.45023e-12 1.19971e-11 0.001523 1 0 EHBP1L1 254102 broad.mit.edu 37 11 65349905 65349905 + Missense_Mutation SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr11:65349905G>C ENST00000309295.4 + 9 2027 c.1762G>C c.(1762-1764)Gaa>Caa p.E588Q NM_001099409.1 NP_001092879.1 Q8N3D4 EH1L1_HUMAN EH domain binding protein 1-like 1 588 Glu-rich. central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 CCAGGAGAAAGAAGTTGAGGG 0.562000 8 43 0 0 0.003080 0 0 ZNF536 9745 broad.mit.edu 37 19 30935952 30935952 + Missense_Mutation SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr19:30935952G>A ENST00000355537.3 + 2 1630 c.1483G>A c.(1483-1485)Gtg>Atg p.V495M NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 495 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CCTCAATCTCGTGCCGCCGCT 0.657000 18 66 0 0 0.007413 0 0 ABCA4 24 broad.mit.edu 37 1 94526123 94526123 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr1:94526123C>T ENST00000370225.3 - 14 2216 c.2130G>A c.(2128-2130)atG>atA p.M710I ABCA4_ENST00000535735.1_Missense_Mutation_p.M710I NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 710 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GGAAGATGCTCATCGACATGA 0.463000 20 75 0 0 0.001523 0 0 LRBA 987 broad.mit.edu 37 4 151271210 151271210 + Silent SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr4:151271210C>G ENST00000535741.1 - 48 7769 c.7296G>C c.(7294-7296)gtG>gtC p.V2432V LRBA_ENST00000510413.1_Silent_p.V2432V|LRBA_ENST00000507224.1_Silent_p.V2432V|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000357115.3_Silent_p.V2443V P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 2443 BEACH. endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) AGTAATAGAACACATTGAGGG 0.413000 8 34 0 0 0.003080 0 0 PTRF 284119 broad.mit.edu 37 17 40557194 40557194 + Silent SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr17:40557194G>A ENST00000357037.5 - 2 1103 c.684C>T c.(682-684)cgC>cgT p.R228R NM_012232.5 NP_036364.2 Q6NZI2 PTRF_HUMAN polymerase I and transcript release factor 228 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm protein binding|rRNA primary transcript binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134) BRCA - Breast invasive adenocarcinoma(366;0.193) AGTCGTCCACGCGCCGCAGGC 0.612000 27 111 0 0 0.004656 0 0 MEIS3 56917 broad.mit.edu 37 19 47910822 47910822 + Splice_Site SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr19:47910822C>G ENST00000331559.5 - 9 1250 c.807_splice c.e9-1 p.R270_splice MEIS3_ENST00000441740.2_Intron|MEIS3_ENST00000561293.1_Splice_Site_p.R287_splice|MEIS3_ENST00000561096.1_Intron|MEIS3_ENST00000560253.1_Intron|MEIS3_ENST00000559524.1_Splice_Site_p.R287_splice|MEIS3_ENST00000558555.1_Intron NM_020160.2 NP_064545.1 Q99687 MEIS3_HUMAN Meis homeobox 3 286 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2) 20 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223) TTCTGAGCGTCTCTGCGCTCC 0.662000 4 7 0 0 0.000248 0 0 SLITRK4 139065 broad.mit.edu 37 X 142717244 142717244 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chrX:142717244C>T ENST00000381779.4 - 2 1906 c.1681G>A c.(1681-1683)Gag>Aag p.E561K SLITRK4_ENST00000356928.1_Missense_Mutation_p.E561K|SLITRK4_ENST00000338017.4_Missense_Mutation_p.E561K NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 561 LRRCT 2. integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) ACAGGCGTCTCACATTTCAGT 0.458000 35 123 0 0 0.003271 0 0 HIST2H3D 653604 broad.mit.edu 37 1 149785051 149785051 + Silent SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr1:149785051C>G ENST00000331491.1 - 1 185 c.186G>C c.(184-186)ctG>ctC p.L62L NM_001123375.2 NP_001116847.1 Q71DI3 H32_HUMAN histone cluster 2, H3d 62 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding|protein binding biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3) 7 GCTTGCGGATCAGCAGCTCCG 0.692000 12 29 0 0 0.007413 0 0 MARS2 92935 broad.mit.edu 37 2 198570421 198570421 + Missense_Mutation SNP A A C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr2:198570421A>C ENST00000282276.6 + 1 335 c.292A>C c.(292-294)Aag>Cag p.K98Q AC011997.1_ENST00000409845.1_Intron NM_138395.3 NP_612404.1 Q96GW9 SYMM_HUMAN methionyl-tRNA synthetase 2, mitochondrial 98 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 22 L-Methionine(DB00134) GCACGGGCTGAAGATTCAGCA 0.672000 8 31 0 0 0.003080 0 0 LRRC66 339977 broad.mit.edu 37 4 52860807 52860807 + Missense_Mutation SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr4:52860807G>C ENST00000343457.3 - 4 2387 c.2381C>G c.(2380-2382)tCt>tGt p.S794C NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 794 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 ATCAGTGTCAGAGGCATTTTC 0.473000 4 32 0 0 0.000248 0 0 ANKRD35 148741 broad.mit.edu 37 1 145560245 145560245 + Missense_Mutation SNP G G A rs146006151 byFrequency TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr1:145560245G>A ENST00000355594.4 + 8 818 c.731G>A c.(730-732)cGg>cAg p.R244Q ANKRD35_ENST00000544626.1_3'UTR NM_144698.3 NP_653299.3 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 244 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GCCCTGAGCCGGCGGCGGCGG 0.552000 17 62 0 0 0.007413 0 0 DYNC1LI1 51143 broad.mit.edu 37 3 32612233 32612233 + Silent SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr3:32612233G>A ENST00000273130.4 - 1 133 c.30C>T c.(28-30)ttC>ttT p.F10F DYNC1LI1_ENST00000432458.2_Silent_p.F10F NM_016141.3 NP_057225.2 Q9Y6G9 DC1L1_HUMAN dynein, cytoplasmic 1, light intermediate chain 1 10 cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole ATP binding|motor activity kidney(2)|large_intestine(1)|lung(3)|ovary(1) 7 GAGAAGAACCGAAGGAGCCGA 0.672000 5 21 0 0 0.001168 0 0 FHOD1 29109 broad.mit.edu 37 16 67272351 67272351 + Splice_Site SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr16:67272351C>T ENST00000258201.4 - 4 621 c.e4-1 FHOD1_ENST00000567687.1_Intron NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) TACAGCTTTTCTGCAAAAGGT 0.502000 4 21 0 0 0.000248 0 0 DPYD 1806 broad.mit.edu 37 1 98039322 98039322 + Missense_Mutation SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr1:98039322G>A ENST00000370192.3 - 11 1433 c.1333C>T c.(1333-1335)Cct>Tct p.P445S NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 445 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) GTACCTTTAGGATCACTCAGA 0.398000 24 77 0 0 0.003330 0 0 HFM1 164045 broad.mit.edu 37 1 91727882 91727882 + Missense_Mutation SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr1:91727882G>C ENST00000370425.3 - 38 4252 c.4154C>G c.(4153-4155)tCt>tGt p.S1385C HFM1_ENST00000370424.3_Missense_Mutation_p.S1064C|HFM1_ENST00000294696.5_3'UTR|HFM1_ENST00000462405.1_5'UTR NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 1385 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) GTTTTTTTCAGAGAAAGTAAA 0.279000 21 84 0 0 0.001523 0 0 TRAK1 22906 broad.mit.edu 37 3 42229593 42229593 + Silent SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr3:42229593C>T ENST00000327628.5 + 5 937 c.537C>T c.(535-537)acC>acT p.T179T TRAK1_ENST00000449246.1_Silent_p.T105T|TRAK1_ENST00000396175.1_Silent_p.T121T|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000341421.3_Silent_p.T121T NM_001042646.2 NP_001036111.1 Q9UPV9 TRAK1_HUMAN trafficking protein, kinesin binding 1 179 HAP1 N-terminal. endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 AGTTCTACACCAGCGCTGCGG 0.577000 22 136 0 0 0.002780 0 0 C2orf53 339779 broad.mit.edu 37 2 27360067 27360067 + Silent SNP A A G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr2:27360067A>G ENST00000335524.3 - 3 1656 c.1131T>C c.(1129-1131)ccT>ccC p.P377P NM_178553.3 NP_848648.2 Q53SZ7 CB053_HUMAN chromosome 2 open reading frame 53 377 cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCGAGGTGGAGGCCCGGAGA 0.607000 3 111 0 0 0.004672 0 0 PLK1 5347 broad.mit.edu 37 16 23698820 23698820 + Missense_Mutation SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr16:23698820G>A ENST00000300093.4 + 6 1178 c.1067G>A c.(1066-1068)cGg>cAg p.R356Q CTD-2196E14.5_ENST00000566143.1_RNA NM_005030.3 NP_005021.2 P53350 PLK1_HUMAN polo-like kinase 1 356 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(48;0.0156) GAGCGTCCCCGGGAAAAAGAA 0.592000 10 136 0 0 0.000978 0 0 PCDH1 5097 broad.mit.edu 37 5 141243981 141243981 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr5:141243981C>T ENST00000287008.3 - 3 2062 c.1915G>A c.(1915-1917)Gga>Aga p.G639R PCDH1_ENST00000456271.1_Missense_Mutation_p.G627R|PCDH1_ENST00000536585.1_Missense_Mutation_p.G617R|PCDH1_ENST00000394536.3_Missense_Mutation_p.G639R|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR NM_032420.2 NP_115796.2 Q08174 PCDH1_HUMAN protocadherin 1 639 Cadherin 6. cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) CCCTTGTCTCCATCAATGACA 0.517000 16 62 0 0 0.004007 0 0 CNNM2 54805 broad.mit.edu 37 10 104678683 104678683 + Missense_Mutation SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr10:104678683G>C ENST00000369878.3 + 1 570 c.446G>C c.(445-447)cGa>cCa p.R149P CNNM2_ENST00000433628.2_Missense_Mutation_p.R149P|CNNM2_ENST00000369875.3_Missense_Mutation_p.R149P NM_017649.4 NP_060119.3 Q9H8M5 CNNM2_HUMAN cyclin M2 149 ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) GGCCCCCAGCGATGCGGCATC 0.692000 36 114 0 0 0.003755 0 0 SLC26A8 116369 broad.mit.edu 37 6 35980126 35980126 + Missense_Mutation SNP C C T rs116146081 by1000genomes TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr6:35980126C>T ENST00000490799.1 - 3 565 c.212G>A c.(211-213)cGa>cAa p.R71Q SLC26A8_ENST00000394602.2_Missense_Mutation_p.R71Q|SLC26A8_ENST00000355574.2_Missense_Mutation_p.R71Q NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 71 cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 AAGCACGCATCGTAGGAACCT 0.463000 17 94 0 0 0.007413 0 0 NCAM2 4685 broad.mit.edu 37 21 22710789 22710789 + Missense_Mutation SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr21:22710789G>A ENST00000400546.1 + 8 1228 c.979G>A c.(979-981)Gag>Aag p.E327K NCAM2_ENST00000535285.1_Missense_Mutation_p.E352K|NCAM2_ENST00000284894.7_Missense_Mutation_p.E185K NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 327 Ig-like C2-type 4. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) TGCGGAAGGGGAGCCTATTCC 0.388000 8 16 0 0 0.003080 0 0 OSBPL3 26031 broad.mit.edu 37 7 24905839 24905839 + Silent SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr7:24905839G>A ENST00000313367.2 - 6 850 c.399C>T c.(397-399)gtC>gtT p.V133V OSBPL3_ENST00000352860.1_Silent_p.V133V|OSBPL3_ENST00000431825.2_Silent_p.V133V|OSBPL3_ENST00000353930.1_Silent_p.V133V|OSBPL3_ENST00000396431.1_Silent_p.V133V|OSBPL3_ENST00000409069.1_Silent_p.V133V|OSBPL3_ENST00000396429.1_Silent_p.V133V NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 133 PH. lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 ACTCATCAAAGACTTCTTCTG 0.388000 14 40 0 0 0.003163 0 0 PPP2R3A 5523 broad.mit.edu 37 3 135720623 135720623 + Missense_Mutation SNP C C A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr3:135720623C>A ENST00000264977.3 + 2 900 c.283C>A c.(283-285)Ccc>Acc p.P95T PPP2R3A_ENST00000490467.1_Intron NM_001190447.1|NM_002718.4 NP_001177376.1|NP_002709.2 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', alpha 95 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CACAGGCATACCCAGGGTCAA 0.423000 9 45 7.48243e-07 1.12236e-06 0.006214 1 0 TTN 7273 broad.mit.edu 37 2 179450071 179450071 + Missense_Mutation SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr2:179450071G>A ENST00000589042.1 - 309 64624 c.64400C>T c.(64399-64401)cCa>cTa p.P21467L TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P12527L|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P12594L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P19826L|TTN_ENST00000460472.2_Missense_Mutation_p.P12402L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P18899L|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19826 Fibronectin type-III 55. 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) GATCTTTGGTGGCACTGAAAG 0.398000 25 97 0 0 0.003330 0 0 FEZF1 389549 broad.mit.edu 37 7 121943869 121943869 + Missense_Mutation SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr7:121943869G>A ENST00000442488.2 - 1 690 c.623C>T c.(622-624)gCg>gTg p.A208V FEZF1_ENST00000427185.2_Missense_Mutation_p.A158V|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.A208V NM_001024613.2|NM_001160264.1 NP_001019784.2|NP_001153736.1 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 208 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1) 25 TTTCTCCACCGCCGGGACCAC 0.527000 17 54 0 0 0.006122 0 0 HEATR4 399671 broad.mit.edu 37 14 73989500 73989500 + Silent SNP G G A rs150475805 TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr14:73989500G>A ENST00000553558.1 - 3 678 c.357C>T c.(355-357)ttC>ttT p.F119F HEATR4_ENST00000334988.2_Silent_p.F119F|HEATR4_ENST00000560393.1_Silent_p.F72F NM_001220484.1 NP_001207413.1 HEAT repeat containing 4 breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719) CCAGGAACTTGAAGCTAACAG 0.488000 16 78 0 0 0.003163 0 0 ROBO1 6091 broad.mit.edu 37 3 78696802 78696802 + Missense_Mutation SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr3:78696802G>C ENST00000436010.2 - 18 3696 c.2699C>G c.(2698-2700)cCg>cGg p.P900R ROBO1_ENST00000495273.1_Intron|ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000464233.1_Missense_Mutation_p.P939R Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 939 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) GGTAAAAGACGGGACTGAAAA 0.343000 61 232 0 0 0.003610 0 0 PEAK1 79834 broad.mit.edu 37 15 77473623 77473623 + Missense_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr15:77473623C>G ENST00000560626.2 - 4 1121 c.646G>C c.(646-648)Gaa>Caa p.E216Q PEAK1_ENST00000312493.4_Missense_Mutation_p.E216Q|PEAK1_ENST00000558305.1_Missense_Mutation_p.E216Q Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 216 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding CTAATCACTTCTGTGCTCCCA 0.458000 34 126 0 0 0.004878 0 0 CTNS 1497 broad.mit.edu 37 17 3550808 3550808 + Silent SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr17:3550808C>T ENST00000046640.3 + 4 725 c.132C>T c.(130-132)ctC>ctT p.L44L CTNS_ENST00000414524.2_Intron|CTNS_ENST00000381870.3_Silent_p.L44L|CTNS_ENST00000488623.1_3'UTR|CTNS_ENST00000399306.2_Silent_p.L44L|CTNS_ENST00000441220.2_Intron NM_004937.2 NP_004928.2 O60931 CTNS_HUMAN cystinosin, lysosomal cystine transporter 44 ATP metabolic process|brain development|cognition|glutathione metabolic process integral to membrane|late endosome|lysosomal membrane L-cystine transmembrane transporter activity NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2) 10 COAD - Colon adenocarcinoma(5;0.0829) L-Cystine(DB00138) ACGTCAGCCTCACCCTGCGGT 0.602000 7 27 0 0 0.003080 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 3 41 0 0 0.000248 0 0 UBA5 79876 broad.mit.edu 37 3 132387716 132387716 + Missense_Mutation SNP T T A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr3:132387716T>A ENST00000356232.4 + 4 1424 c.352T>A c.(352-354)Ttc>Atc p.F118I UBA5_ENST00000494238.2_Missense_Mutation_p.F62I|UBA5_ENST00000264991.4_Missense_Mutation_p.F62I|UBA5_ENST00000493720.2_Missense_Mutation_p.F118I|UBA5_ENST00000473651.1_Missense_Mutation_p.F118I NM_024818.3 NP_079094.1 Q9GZZ9 UBA5_HUMAN ubiquitin-like modifier activating enzyme 5 118 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 TAGACTTTTCTTCCAACCTCA 0.338000 30 95 0 0 0.002096 0 0 TAF1L 138474 broad.mit.edu 37 9 32630264 32630264 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr9:32630264C>T ENST00000242310.4 - 1 5403 c.5314G>A c.(5314-5316)Gat>Aat p.D1772N NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1772 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding p.D1772N(1) breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TCTTCCTCATCATCTTCTCCT 0.463000 25 103 0 0 0.004656 0 0 STAT6 6778 broad.mit.edu 37 12 57500498 57500498 + Missense_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr12:57500498C>G ENST00000300134.3 - 5 781 c.456G>C c.(454-456)caG>caC p.Q152H STAT6_ENST00000454075.3_Missense_Mutation_p.Q152H|STAT6_ENST00000537215.2_Missense_Mutation_p.Q42H|STAT6_ENST00000543873.2_Missense_Mutation_p.Q152H|STAT6_ENST00000538913.2_Missense_Mutation_p.Q42H|STAT6_ENST00000556155.1_Missense_Mutation_p.Q152H NM_001178078.1|NM_003153.4 NP_001171549.1|NP_003144.3 P42226 STAT6_HUMAN signal transducer and activator of transcription 6, interleukin-4 induced 152 regulation of transcription from RNA polymerase II promoter cytosol|nucleus calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1) 28 CAGCCCCCTTCTGCAGGGCTT 0.567000 55 122 0 0 0.003610 0 0 SPEN 23013 broad.mit.edu 37 1 16262721 16262721 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr1:16262721C>T ENST00000375759.3 + 11 10190 c.9986C>T c.(9985-9987)tCc>tTc p.S3329F NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 3329 Pro-rich. 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) CCCGCCGCTTCCTCTGTTGGC 0.632000 7 57 0 0 0.004482 0 0 WDR4 10785 broad.mit.edu 37 21 44299516 44299516 + Splice_Site SNP C C A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr21:44299516C>A ENST00000398208.2 - 1 149 c.e1+1 WDR4_ENST00000330317.2_Splice_Site NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5 NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2 P57081 WDR4_HUMAN WD repeat domain 4 tRNA modification cytoplasm|nucleoplasm protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2) 11 Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244) GGCCCCCTCACCTGCTTGCTA 0.706000 21 57 1.10923e-09 1.72898e-09 0.002780 1 0 SORBS2 8470 broad.mit.edu 37 4 186545417 186545417 + Missense_Mutation SNP T T C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr4:186545417T>C ENST00000431808.1 - 14 1717 c.1154A>G c.(1153-1155)gAc>gGc p.D385G SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.D289G|SORBS2_ENST00000355634.5_Missense_Mutation_p.D485G|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.D385G|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000498125.1_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 385 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) TAGGAGATCGTCACAGCTCCG 0.532000 12 36 0 0 0.000978 0 0 BAGE2 85319 broad.mit.edu 37 21 11058353 11058353 + RNA SNP T T C rs79433933 by1000genomes TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr21:11058353T>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAAATCTCTTTATAAAACCTT 0.343000 5 103 0 0 0.001168 0 0 ARHGAP4 393 broad.mit.edu 37 X 153178994 153178994 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chrX:153178994C>T ENST00000370028.3 - 10 1372 c.1315G>A c.(1315-1317)Ggg>Agg p.G439R ARHGAP4_ENST00000370016.1_Missense_Mutation_p.G378R|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.G399R|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.G376R|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.G221R NM_001164741.1 NP_001158213.1 P98171 RHG04_HUMAN Rho GTPase activating protein 4 399 apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AGCACATCCCCGTCATCCGAG 0.657000 25 68 0 0 0.004656 0 0 PPP1R26 9858 broad.mit.edu 37 9 138379081 138379081 + Missense_Mutation SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr9:138379081G>C ENST00000356818.2 + 4 3274 c.2725G>C c.(2725-2727)Gag>Cag p.E909Q PPP1R26_ENST00000605660.1_Missense_Mutation_p.E909Q|PPP1R26_ENST00000401470.3_Missense_Mutation_p.E909Q|PPP1R26_ENST00000605286.1_Missense_Mutation_p.E909Q|PPP1R26_ENST00000604351.1_Missense_Mutation_p.E909Q|PPP1R26_ENST00000602993.1_Intron NM_014811.3 NP_055626.3 Q5T8A7 K0649_HUMAN protein phosphatase 1, regulatory subunit 26 909 nucleolus protein binding TCGAGGCACAGAGAGCGCAGG 0.706000 17 85 0 0 0.007413 0 0 ZNF710 374655 broad.mit.edu 37 15 90616485 90616485 + Missense_Mutation SNP C C A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr15:90616485C>A ENST00000268154.4 + 3 1892 c.1641C>A c.(1639-1641)ttC>ttA p.F547L NM_198526.2 NP_940928.2 Q8N1W2 ZN710_HUMAN zinc finger protein 710 547 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 19 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129) TGAAGCCATTCAAATGCAAGG 0.602000 14 58 1.15088e-07 1.73822e-07 0.004007 1 0 MAST4 375449 broad.mit.edu 37 5 66409957 66409957 + Missense_Mutation SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr5:66409957G>C ENST00000404260.3 + 12 1818 c.1510G>C c.(1510-1512)Gaa>Caa p.E504Q MAST4_ENST00000405643.1_Missense_Mutation_p.E322Q|MAST4_ENST00000490016.2_Missense_Mutation_p.E312Q|MAST4_ENST00000403666.1_Missense_Mutation_p.E312Q|MAST4_ENST00000403625.2_Missense_Mutation_p.E501Q|MAST4_ENST00000261569.7_Missense_Mutation_p.E307Q O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 504 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) GGAAGCAGCAGAAGGCCATGC 0.438000 14 38 0 0 0.001855 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56701579 56701579 + Missense_Mutation SNP G G T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr19:56701579G>T ENST00000586855.2 - 5 1418 c.1105C>A c.(1105-1107)Cag>Aag p.Q369K ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.Q369K A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 369 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 ATGCTTAGCTGGGAAAAATAC 0.547000 19 54 6.49762e-13 1.05406e-12 0.006122 1 0 ERAS 3266 broad.mit.edu 37 X 48687838 48687838 + Missense_Mutation SNP A A T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chrX:48687838A>T ENST00000338270.1 + 1 556 c.305A>T c.(304-306)cAt>cTt p.H102L NM_181532.2 NP_853510.1 Q7Z444 RASE_HUMAN ES cell expressed Ras 102 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 14 CAGGCCATCCATAGGGCCCTG 0.597000 20 83 0 0 0.002299 0 0 ARHGAP6 395 broad.mit.edu 37 X 11197434 11197434 + Missense_Mutation SNP T T C rs147456861 TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chrX:11197434T>C ENST00000337414.4 - 7 2340 c.1468A>G c.(1468-1470)Atc>Gtc p.I490V ARHGAP6_ENST00000380736.1_Missense_Mutation_p.I287V|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.I287V|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.I490V|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.I522V|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.I315V|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.I299V NM_013427.2 NP_038286.2 O43182 RHG06_HUMAN Rho GTPase activating protein 6 490 Rho-GAP. actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 AGAGTGTTGATGAAAGCTGTG 0.483000 29 93 0 0 0.007291 0 0 SOS2 6655 broad.mit.edu 37 14 50655405 50655405 + Missense_Mutation SNP A A C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr14:50655405A>C ENST00000216373.5 - 5 798 c.524T>G c.(523-525)aTg>aGg p.M175R SOS2_ENST00000543680.1_Missense_Mutation_p.M175R NM_006939.2 NP_008870.2 Q07890 SOS2_HUMAN son of sevenless homolog 2 (Drosophila) 175 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) CTGATCAAACATGTCCATCAA 0.313000 8 29 0 0 0.004482 0 0 LAMC3 10319 broad.mit.edu 37 9 133967144 133967144 + Missense_Mutation SNP C C A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr9:133967144C>A ENST00000361069.4 + 28 4831 c.4698C>A c.(4696-4698)agC>agA p.S1566R LAMC3_ENST00000480883.1_3'UTR NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 1566 Domain II and I. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) TTCTGCACAGCCTGCCCGAGA 0.632000 11 27 1.08611e-07 1.64607e-07 0.000978 1 0 MAN2B1 4125 broad.mit.edu 37 19 12776262 12776262 + Missense_Mutation SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr19:12776262G>A ENST00000456935.2 - 3 380 c.340C>T c.(340-342)Cgt>Tgt p.R114C MAN2B1_ENST00000221363.4_Missense_Mutation_p.R114C|CTD-2192J16.24_ENST00000597961.1_Missense_Mutation_p.R111C NM_000528.3|NM_001173498.1 NP_000519.2|NP_001166969.1 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 114 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 ATGAAGCGACGGGTGGGATCT 0.557000 25 93 0 0 0.004656 0 0 MAGEE1 57692 broad.mit.edu 37 X 75649321 75649321 + Missense_Mutation SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chrX:75649321C>T ENST00000361470.2 + 1 1276 c.998C>T c.(997-999)cCg>cTg p.P333L NM_020932.2 NP_065983.1 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 333 Pro-rich. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 ACCTCCGTGCCGCCCACCGCC 0.697000 9 32 0 0 0.006214 0 0 FOLH1 2346 broad.mit.edu 37 11 49214404 49214404 + Nonsense_Mutation SNP C C A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr11:49214404C>A ENST00000340334.7 - 5 777 c.409G>T c.(409-411)Gaa>Taa p.E137* FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000533034.1_Nonsense_Mutation_p.E137*|FOLH1_ENST00000256999.2_Nonsense_Mutation_p.E152*|FOLH1_ENST00000356696.3_Nonsense_Mutation_p.E152* NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 152 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) GAAACATTTTCATATCCTGGA 0.323000 9 108 1.61879e-10 2.55968e-10 0.001368 1 0 OR14J1 442191 broad.mit.edu 37 6 29274829 29274829 + Silent SNP C C T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr6:29274829C>T ENST00000377160.2 + 1 427 c.363C>T c.(361-363)taC>taT p.Y121Y NM_030946.1 NP_112208.1 Q9UGF5 O14J1_HUMAN olfactory receptor, family 14, subfamily J, member 1 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2) 17 ATGACAGGTACGCAGCAATCT 0.478000 29 87 0 0 0.007291 0 0 AMZ2P1 201283 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 5 103 0 0 0.000602 0 0 ATAD3A 55210 broad.mit.edu 37 1 1463191 1463192 + Frame_Shift_Ins INS - - G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr1:1463191_1463192insG ENST00000378755.5 + 14 1692_1693 c.1598_1599insG c.(1597-1599)gagfs p.E533fs ATAD3A_ENST00000378756.3_Frame_Shift_Ins_p.E485fs|ATAD3A_ENST00000536055.1_Frame_Shift_Ins_p.E406fs NM_018188.3 NP_060658.3 Q9NVI7 ATD3A_HUMAN ATPase family, AAA domain containing 3A 533 ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 20 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147) GAGCGCCTGGTGAGAATGTATT 0.589 24 121 --- --- --- --- RP11-782C8.1 0 broad.mit.edu 37 1 143217265 143217266 + RNA INS - - A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr1:143217265_143217266insA ENST00000438000.1 + 0 59 GTTAGTAAAGCAAAAAAAAAAC 0.282 3 6 --- --- --- --- BRINP3 339479 broad.mit.edu 37 1 190067931 190067941 + Frame_Shift_Del DEL TCTGTCCGTTT TCTGTCCGTTT - TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr1:190067931_190067941delTCTGTCCGTTT ENST00000367462.3 - 8 1739_1749 c.1508_1518delAAACGGACAGA c.(1507-1518)afs p.KTDR503fs FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Frame_Shift_Del_p.KTDR401fs NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 503 extracellular region p.T504T(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) CTTCTATTCGTCTGTCCGTTTTCTGCAGCAG 0.498 17 134 --- --- --- --- ANKRD36BP2 645784 broad.mit.edu 37 2 89083945 89083946 + RNA INS - - GC TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr2:89083945_89083946insGC ENST00000393525.3 + 0 576 GTATTCCTTTTTTTTCAGTGTA 0.347 2 4 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187541705 187541721 + Frame_Shift_Del DEL AAAGGCTCATTGATTGG AAAGGCTCATTGATTGG - TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr4:187541705_187541721delAAAGGCTCATTGATTGG ENST00000441802.2 - 10 6228_6244 c.6019_6035delCCAATCAATGAGCCTTT c.(6019-6036)gfs p.PINEPL2007fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2007 Cadherin 18. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GTGATAAAACAAAGGCTCATTGATTGGATTCCCAATA 0.465 HNSCC(5;0.00058) 24 204 --- --- --- --- SKIV2L2 23517 broad.mit.edu 37 5 54637510 54637510 + Splice_Site DEL T T - TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr5:54637510delT ENST00000230640.5 + 7 946 c.690_splice c.e7-1 p.I231_splice SKIV2L2_ENST00000545714.1_Splice_Site_p.I130_splice NM_015360.4 NP_056175.3 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 (S. cerevisiae) 231 Helicase ATP-binding. maturation of 5.8S rRNA catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) TTTCTTTAGATTTTGAGAAGT 0.294 14 33 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708776 180708777 + RNA INS - - G rs140221514 TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr5:180708776_180708777insG ENST00000412295.2 + 0 238 gggcggtaggagggggctggag 0.728 4 3 --- --- --- --- STEAP2-AS1 100874100 broad.mit.edu 37 7 89748927 89748928 + RNA INS - - C rs138239781 by1000genomes TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr7:89748927_89748928insC ENST00000478318.2 - 0 424 DPY19L2P4_ENST00000497063.1_RNA|RP5-1121E10.2_ENST00000471553.1_lincRNA GGTGCGGGCCTCCCCCTTCCCC 0.639 4 4 --- --- --- --- FABP5P3 220832 broad.mit.edu 37 7 152140120 152140121 + RNA INS - - T rs112177366 TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr7:152140120_152140121insT ENST00000477993.1 + 0 875_876 NR_002935.1 CTGTTTCTTTCTTTTTTTTTTC 0.327 2 4 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139409118 139409118 + Frame_Shift_Del DEL C C - TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr9:139409118delC ENST00000277541.6 - 13 2126 c.2051delG c.(2050-2052)gcfs p.G684fs NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 684 EGF-like 18; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GCAGGGGTTGCCCGCACACTC 0.662 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 8 24 --- --- --- --- PCF11 51585 broad.mit.edu 37 11 82880841 82880841 + Frame_Shift_Del DEL A A - TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr11:82880841delA ENST00000298281.4 + 8 3916 c.3464delA c.(3463-3465)ctfs p.H1155fs NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 1155 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 TTCCAAAGACATGAACAAATA 0.418 16 42 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738795 102738796 + RNA INS - - T rs33924686 by1000genomes TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr11:102738795_102738796insT ENST00000532855.1 - 0 725_726 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.N211fs*20(2) autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) AGGAACAAGTGGTGCCTAAGAA 0.416 2 4 --- --- --- --- DPY19L2 283417 broad.mit.edu 37 12 64061889 64061890 + Frame_Shift_Ins INS - - T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr12:64061889_64061890insT ENST00000324472.4 - 1 467_468 c.284_285insA c.(283-285)agtfs p.S95fs RP11-415I12.3_ENST00000509615.2_RNA NM_173812.4 NP_776173.3 Q6NUT2 D19L2_HUMAN dpy-19-like 2 (C. elegans) 95 multicellular organismal development|spermatid development integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) GTTCCTGCACCTTTTCCCGGAG 0.609 8 125 --- --- --- --- CCDC178 374864 broad.mit.edu 37 18 30913142 30913143 + Frame_Shift_Ins INS - - T TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5409f12-e438-4979-b40e-120899c1fa15 b780d424-5294-4725-807c-063d6aa64adf g.chr18:30913142_30913143insT ENST00000383096.3 - 10 1056_1057 c.874_875insA c.(874-876)ggafs p.G292fs CCDC178_ENST00000579947.1_Frame_Shift_Ins_p.G292fs|CCDC178_ENST00000402325.1_Frame_Shift_Ins_p.G292fs|CCDC178_ENST00000300227.8_Frame_Shift_Ins_p.G292fs|CCDC178_ENST00000583930.1_Frame_Shift_Ins_p.G292fs|CCDC178_ENST00000403303.1_Frame_Shift_Ins_p.G292fs|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Frame_Shift_Ins_p.G292fs coiled-coil domain containing 178 p.M292fs*3(2) ATTTACCTCCATTTTTTTTTTA 0.317 9 33 --- --- --- ---