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 PCDHB6 56130 broad.mit.edu 37 5 140530708 140530708 + Missense_Mutation SNP C C A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr5:140530708C>A ENST00000231136.1 + 1 870 c.870C>A c.(868-870)ttC>ttA p.F290L PCDHB6_ENST00000543635.1_Missense_Mutation_p.F154L NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 290 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACCAACCCTTCGAAATAAACG 0.458000 26 46 2.61193e-14 2.80853e-14 1 1 0 PRPF3 9129 broad.mit.edu 37 1 150312943 150312943 + Silent SNP C C G TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:150312943C>G ENST00000324862.6 + 9 1437 c.1272C>G c.(1270-1272)ctC>ctG p.L424L PRPF3_ENST00000414970.2_Silent_p.L375L|PRPF3_ENST00000543398.1_3'UTR|PRPF3_ENST00000467329.1_3'UTR NM_004698.2 NP_004689.1 O43395 PRPF3_HUMAN pre-mRNA processing factor 3 424 nuclear mRNA splicing, via spliceosome Cajal body|cytoplasm|nuclear speck|spliceosomal complex protein binding p.L424L(1) breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) Colorectal(1306;0.0149) CAGCCCAGCTCAATCCTCCAG 0.373000 4 95 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178917495 178917495 + Missense_Mutation SNP C C G TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr3:178917495C>G ENST00000263967.3 + 3 527 c.370C>G c.(370-372)Cca>Gca p.P124A NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 124 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.P124T(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TATCGGCATGCCAGTGTGTGA 0.348000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 33 61 0 0 1 0 0 DHX38 9785 broad.mit.edu 37 16 72132853 72132853 + Silent SNP C C T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr16:72132853C>T ENST00000268482.3 + 6 1301 c.792C>T c.(790-792)gaC>gaT p.D264D DHX38_ENST00000536867.1_Intron NM_014003.3 NP_054722.2 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 264 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 48 Ovarian(137;0.125) ACTCGGATGACACGCCTCTGC 0.587000 5 30 0 0 1 0 0 EREG 2069 broad.mit.edu 37 4 75245174 75245174 + Missense_Mutation SNP T T C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr4:75245174T>C ENST00000244869.2 + 2 243 c.77T>C c.(76-78)cTt>cCt p.L26P NM_001432.2 NP_001423.1 O14944 EREG_HUMAN epiregulin 26 angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing extracellular space|integral to plasma membrane epidermal growth factor receptor binding|growth factor activity breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1) 13 Lung(101;0.196) GGTTTCCATCTTCTACAGGCA 0.363000 31 146 0 0 1 0 0 HIST2H2BF 440689 broad.mit.edu 37 1 149783693 149783693 + Silent SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:149783693G>A ENST00000427880.2 - 1 232 c.186C>T c.(184-186)atC>atT p.I62I HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000369167.1_Silent_p.I62I|HIST2H2BF_ENST00000545683.1_Silent_p.I62I Q5QNW6 H2B2F_HUMAN histone cluster 2, H2bf 62 nucleosome assembly nucleosome|nucleus DNA binding p.I62I(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Breast(34;0.0124)|all_hematologic(923;0.127) AGGAGTTCATGATGCCCATGG 0.612000 7 320 0 0 1 0 0 PLD1 5337 broad.mit.edu 37 3 171394539 171394539 + Missense_Mutation SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr3:171394539G>A ENST00000356327.5 - 17 2037 c.1967C>T c.(1966-1968)gCa>gTa p.A656V PLD1_ENST00000351298.4_Missense_Mutation_p.A694V|PLD1_ENST00000342215.6_Missense_Mutation_p.H585Y|PLD1_ENST00000340989.4_Missense_Mutation_p.A694V NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 694 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) GAAGTGACGTGCCACATCACG 0.532000 50 68 0 0 1 0 0 CARD14 79092 broad.mit.edu 37 17 78171948 78171948 + Missense_Mutation SNP G G C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr17:78171948G>C ENST00000573882.1 + 14 2181 c.1645G>C c.(1645-1647)Gat>Cat p.D549H CARD14_ENST00000570421.1_Missense_Mutation_p.D549H|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000344227.2_Missense_Mutation_p.D549H|CARD14_ENST00000392434.2_Missense_Mutation_p.D312H Q9BXL6 CAR14_HUMAN caspase recruitment domain family, member 14 549 activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1) 23 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) TGGAAGGCTTGATGTCTCGGA 0.602000 3 126 0 0 1 0 0 CDHR2 54825 broad.mit.edu 37 5 176022672 176022672 + Silent SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr5:176022672G>A ENST00000510636.1 + 32 4206 c.3932G>A c.(3931-3933)tGa>tAa p.*1311* CDHR2_ENST00000261944.5_Silent_p.*1311*|CDHR2_ENST00000506348.1_Silent_p.*1311* NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 0 homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 ACGGACCTGTGACAGGGGCCC 0.622000 5 146 0 0 1 0 0 KIAA0100 9703 broad.mit.edu 37 17 26951367 26951367 + Missense_Mutation SNP A A T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr17:26951367A>T ENST00000528896.2 - 25 4710 c.4636T>A c.(4636-4638)Ttt>Att p.F1546I KIAA0100_ENST00000544884.1_Missense_Mutation_p.F1403I|KIAA0100_ENST00000389003.3_Missense_Mutation_p.F1403I NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 1546 F -> L (in Ref. 4; CAI45940). extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) AACACTACAAACCTATCTGTC 0.458000 23 61 0 0 1 0 0 PROS1 5627 broad.mit.edu 37 3 93617331 93617331 + Missense_Mutation SNP C C A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr3:93617331C>A ENST00000394236.3 - 8 1126 c.810G>T c.(808-810)aaG>aaT p.K270N PROS1_ENST00000407433.1_Missense_Mutation_p.K139N NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 270 EGF-like 4; calcium-binding (Potential). leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) TGAATCCTTTCTTCCCATCAC 0.378000 28 61 6.07407e-21 6.67481e-21 1 1 0 PRG4 10216 broad.mit.edu 37 1 186276981 186276981 + Silent SNP A A G TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:186276981A>G ENST00000445192.2 + 7 2175 c.2130A>G c.(2128-2130)aaA>aaG p.K710K PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367483.4_Silent_p.K669K NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 710 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTACCCCTAAAGGGACTGCTC 0.582000 4 141 0 0 1 0 0 CEP85L 387119 broad.mit.edu 37 6 118832571 118832571 + Missense_Mutation SNP G G C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr6:118832571G>C ENST00000368491.3 - 5 1768 c.1147C>G c.(1147-1149)Caa>Gaa p.Q383E CEP85L_ENST00000368488.5_Missense_Mutation_p.Q386E|CEP85L_ENST00000392500.3_Missense_Mutation_p.Q386E|CEP85L_ENST00000419517.2_Missense_Mutation_p.Q383E|CEP85L_ENST00000360290.3_Missense_Mutation_p.Q281E NM_001042475.2 NP_001035940.1 Q5SZL2 CF204_HUMAN centrosomal protein 85kDa-like 383 centrosome GTAATTTGTTGCTTCTGCCTG 0.353000 13 18 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158627401 158627401 + Nonsense_Mutation SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:158627401G>A ENST00000368148.3 - 19 2851 c.2671C>T c.(2671-2673)Cga>Tga p.R891* SPTA1_ENST00000368147.3_Nonsense_Mutation_p.R891* NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 891 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.R891*(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCATTTTGTCGCCTAGCAGCT 0.463000 54 180 0 0 1 0 0 HRG 3273 broad.mit.edu 37 3 186383964 186383964 + Silent SNP C C T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr3:186383964C>T ENST00000232003.4 + 1 224 c.144C>T c.(142-144)ttC>ttT p.F48F HRG_ENST00000468154.1_3'UTR NM_000412.2 NP_000403.1 P04196 HRG_HUMAN histidine-rich glycoprotein 48 Cystatin 1.|Interaction with ATP5A1. fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) GCTACCTTTTCCAATTGCTGC 0.532000 6 150 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178917494 178917494 + Missense_Mutation SNP G G T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr3:178917494G>T ENST00000263967.3 + 3 526 c.369G>T c.(367-369)atG>atT p.M123I NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 123 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CTATCGGCATGCCAGTGTGTG 0.348000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 34 60 4.0492e-12 4.30766e-12 1 1 0 ZNF578 147660 broad.mit.edu 37 19 53014946 53014946 + Missense_Mutation SNP C C A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr19:53014946C>A ENST00000421239.2 + 6 1556 c.1312C>A c.(1312-1314)Cat>Aat p.H438N CTD-3099C6.5_ENST00000599143.1_RNA NM_001099694.1 NP_001093164.1 Q96N58 ZN578_HUMAN zinc finger protein 578 213 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H438Y(1) GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) GGCTTTTATTCATCAGTCAAG 0.383000 5 67 0.0215528 0.0217705 1 1 0 NOS1 4842 broad.mit.edu 37 12 117685288 117685288 + Missense_Mutation SNP G G C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr12:117685288G>C ENST00000317775.6 - 18 3373 c.2688C>G c.(2686-2688)caC>caG p.H896Q NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.H930Q NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 896 Flavodoxin-like. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) AGGCGCAAAAGTGAGGGTATG 0.557000 10 55 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152276983 152276983 + Missense_Mutation SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:152276983G>A ENST00000368799.1 - 3 10414 c.10379C>T c.(10378-10380)tCa>tTa p.S3460L FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3460 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGGGACCCTGAGTGTCCAGA 0.572000 Ichthyosis 10 787 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73848794 73848794 + Missense_Mutation SNP T T C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr8:73848794T>C ENST00000523207.1 + 3 1792 c.1204T>C c.(1204-1206)Tgt>Cgt p.C402R NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 402 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) AGGTCTGTGCTGTATTGCTGG 0.433000 23 96 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40049523 40049523 + Missense_Mutation SNP C C G TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr20:40049523C>G ENST00000373233.3 - 31 5929 c.5752G>C c.(5752-5754)Gag>Cag p.E1918Q NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1918 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) TTTGCCACCTCTAAGCTTCCT 0.542000 4 89 0 0 1 0 0 EZH1 2145 broad.mit.edu 37 17 40855782 40855782 + Missense_Mutation SNP C C A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr17:40855782C>A ENST00000428826.2 - 19 2195 c.2074G>T c.(2074-2076)Gtg>Ttg p.V692L EZH1_ENST00000585893.1_Missense_Mutation_p.V652L|EZH1_ENST00000435174.1_Missense_Mutation_p.V553L|EZH1_ENST00000415827.2_Missense_Mutation_p.V683L|EZH1_ENST00000592743.1_Missense_Mutation_p.V692L|EZH1_ENST00000590078.1_Missense_Mutation_p.V622L Q92800 EZH1_HUMAN enhancer of zeste homolog 1 (Drosophila) 692 SET. anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex chromatin binding|DNA binding breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 27 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) TTGGGATTCACTGAATGATTT 0.423000 10 90 7.03913e-09 7.33242e-09 1 1 0 MAGEA12 4111 broad.mit.edu 37 X 151899930 151899930 + Missense_Mutation SNP G G C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chrX:151899930G>C ENST00000393900.3 - 3 1224 c.871C>G c.(871-873)Cta>Gta p.L291V MAGEA12_ENST00000357916.4_Missense_Mutation_p.L291V|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Missense_Mutation_p.L291V NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 291 MAGE. breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) CTGATCTTTAGCAAATGGTGC 0.562000 22 313 0 0 1 0 0 MFN2 9927 broad.mit.edu 37 1 12069782 12069782 + Splice_Site SNP A A C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:12069782A>C ENST00000235329.5 + 18 2525 c.2204_splice c.e18+1 p.R735_splice MFN2_ENST00000444836.1_Splice_Site_p.R735_splice NM_014874.3 NP_055689.1 O95140 MFN2_HUMAN mitofusin 2 735 blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion cytosol|integral to membrane|intrinsic to mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 20 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) AAAGCTGCTCAGGTGAGGCTG 0.572000 4 32 0 0 1 0 0 TMPRSS7 344805 broad.mit.edu 37 3 111766638 111766638 + Silent SNP G G C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr3:111766638G>C ENST00000452346.2 + 7 786 c.783G>C c.(781-783)ccG>ccC p.P261P TMPRSS7_ENST00000419127.1_Silent_p.P135P Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 261 CUB 1. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 TCCACTACCCGCTGGAGATTT 0.473000 11 81 0 0 1 0 0 HERC4 26091 broad.mit.edu 37 10 69684945 69684945 + Splice_Site SNP C C G TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr10:69684945C>G ENST00000395198.3 - 25 3110 c.e25-1 HERC4_ENST00000373700.4_Splice_Site|HERC4_ENST00000277817.6_Splice_Site|HERC4_ENST00000395187.2_Splice_Site|HERC4_ENST00000412272.2_Splice_Site NM_022079.2 NP_071362.1 Q5GLZ8 HERC4_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 4 cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis cytosol ubiquitin-protein ligase activity NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 27 ATTCTGTATTCTAAAAACAAC 0.328000 11 22 0 0 1 0 0 PTGER4 5734 broad.mit.edu 37 5 40692463 40692463 + Missense_Mutation SNP T T G TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr5:40692463T>G ENST00000302472.3 + 3 2474 c.1450T>G c.(1450-1452)Tca>Gca p.S484A NM_000958.2 NP_000949.1 P35408 PE2R4_HUMAN prostaglandin E receptor 4 (subtype EP4) 484 G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 ACTGAACTTATCAGAAAAATG 0.458000 35 88 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73676583 73676583 + Missense_Mutation SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr2:73676583G>A ENST00000264448.6 + 8 3037 c.2926G>A c.(2926-2928)Gaa>Aaa p.E976K ALMS1_ENST00000377715.1_Missense_Mutation_p.E976K|ALMS1_ENST00000409009.1_Missense_Mutation_p.E934K NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 976 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 TCTACCTAGAGAATCTCTGAA 0.463000 14 101 0 0 1 0 0 CYP4A11 1579 broad.mit.edu 37 1 47406939 47406939 + Missense_Mutation SNP G G T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:47406939G>T ENST00000310638.4 - 1 198 c.167C>A c.(166-168)tCc>tAc p.S56Y CYP4A11_ENST00000371904.4_Missense_Mutation_p.S56Y|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371905.1_Missense_Mutation_p.S56Y NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 56 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) GAGCCAGTGGGAGGGAGGGCA 0.597000 17 76 1.99824e-07 2.06004e-07 1 1 0 ALDH7A1 501 broad.mit.edu 37 5 125912887 125912887 + Silent SNP C C T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr5:125912887C>T ENST00000409134.3 - 6 753 c.534G>A c.(532-534)ctG>ctA p.L178L ALDH7A1_ENST00000413020.1_5'UTR|ALDH7A1_ENST00000447989.2_Silent_p.L205L|ALDH7A1_ENST00000553117.1_Silent_p.L178L NM_001182.4|NM_001201377.1 NP_001173.2|NP_001188306.1 P49419 AL7A1_HUMAN aldehyde dehydrogenase 7 family, member A1 178 cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound cytosol|mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 16 all_cancers(142;0.24)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109) NADH(DB00157)|Pyridoxine(DB00165) ACTGCTCAATCAGTGCATGGC 0.463000 7 45 0 0 1 0 0 C10orf90 118611 broad.mit.edu 37 10 128193347 128193347 + Missense_Mutation SNP G G C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr10:128193347G>C ENST00000284694.7 - 3 542 c.422C>G c.(421-423)aCc>aGc p.T141S C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000544758.1_Missense_Mutation_p.T238S|C10orf90_ENST00000454341.1_Missense_Mutation_p.T141S|C10orf90_ENST00000356858.3_Missense_Mutation_p.T94S|C10orf90_ENST00000392694.1_Missense_Mutation_p.T94S NM_001004298.2 NP_001004298.2 Q96M02 CJ090_HUMAN chromosome 10 open reading frame 90 141 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) GGCCGTGATGGTGATGGATGC 0.677000 OREG0020616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 52 0 0 1 0 0 CCDC37 348807 broad.mit.edu 37 3 126138959 126138959 + Silent SNP A A G TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr3:126138959A>G ENST00000393425.1 + 11 1071 c.972A>G c.(970-972)acA>acG p.T324T CCDC37_ENST00000505024.1_Silent_p.T324T|CCDC37_ENST00000352312.1_Silent_p.T323T Q494V2 CCD37_HUMAN coiled-coil domain containing 37 323 NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3) 23 GBM - Glioblastoma multiforme(114;0.166) GTCAGGGTACAAAGAAGCCCT 0.647000 3 27 0 0 1 0 0 MAN1A2 10905 broad.mit.edu 37 1 117910819 117910819 + Missense_Mutation SNP C C T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:117910819C>T ENST00000356554.3 + 1 749 c.14C>T c.(13-15)gCc>gTc p.A5V MAN1A2_ENST00000482811.1_3'UTR NM_006699.3 NP_006690.1 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 5 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 27 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) ACTACCCCAGCCCTGCTGCCC 0.468000 13 82 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11595166 11595166 + Missense_Mutation SNP C C A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:11595166C>A ENST00000294484.6 + 19 3772 c.3634C>A c.(3634-3636)Ctc>Atc p.L1212I PTCHD2_ENST00000389575.3_Missense_Mutation_p.L1212I|PTCHD2_ENST00000304391.6_Missense_Mutation_p.A98D NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 1212 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) GCTGCCCGTGCTCCTCAGCAT 0.687000 3 21 0.000602214 0.000614504 1 1 0 SCRIB 23513 broad.mit.edu 37 8 144892864 144892864 + Missense_Mutation SNP C C G TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr8:144892864C>G ENST00000356994.2 - 12 1402 c.1396G>C c.(1396-1398)Gag>Cag p.E466Q SCRIB_ENST00000377533.3_Missense_Mutation_p.E385Q|SCRIB_ENST00000320476.3_Missense_Mutation_p.E466Q NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 466 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) ACCCGCTTCTCAGCTGCAGCT 0.647000 15 273 0 0 1 0 0 PCDH12 51294 broad.mit.edu 37 5 141336054 141336054 + Missense_Mutation SNP C C T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr5:141336054C>T ENST00000231484.3 - 1 2573 c.1363G>A c.(1363-1365)Gac>Aac p.D455N NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 455 Cadherin 4. neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGCATTGTCGTTGATGTCA 0.483000 6 138 0 0 1 0 0 OR2G2 81470 broad.mit.edu 37 1 247752444 247752444 + Missense_Mutation SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:247752444G>A ENST00000320065.1 + 1 783 c.783G>A c.(781-783)atG>atA p.M261I RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) tcatcttcatgtatctgcagC 0.473000 35 99 0 0 1 0 0 OR1K1 392392 broad.mit.edu 37 9 125563288 125563288 + Missense_Mutation SNP G G A rs138952318 TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr9:125563288G>A ENST00000277309.2 + 1 919 c.887G>A c.(886-888)cGc>cAc p.R296H NM_080859.1 NP_543135.1 Q8NGR3 OR1K1_HUMAN olfactory receptor, family 1, subfamily K, member 1 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1) 17 CTCTGGAATCGCGATGTACAG 0.602000 30 108 0 0 1 0 0 IGSF22 283284 broad.mit.edu 37 11 18743148 18743148 + Silent SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr11:18743148G>A ENST00000513874.1 - 4 451 c.312C>T c.(310-312)agC>agT p.S104S RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859.3 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 104 Ig-like 1. NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 TGGGGATGCCGCTCTCCCTCT 0.592000 OREG0020822 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 136 0 0 1 0 0 RALGDS 5900 broad.mit.edu 37 9 135982592 135982592 + Silent SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr9:135982592G>A ENST00000393160.3 - 7 1481 c.1128C>T c.(1126-1128)cgC>cgT p.R376R RALGDS_ENST00000542690.1_Silent_p.R502R|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372047.3_Silent_p.R419R|RALGDS_ENST00000372062.3_Silent_p.R402R|RALGDS_ENST00000372050.3_Silent_p.R431R|RALGDS_ENST00000393157.3_Silent_p.R430R NM_001042368.1 NP_001035827.1 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 431 nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) TGACAGTGGCGCGGATGGTGG 0.632000 T CIITA """PMBL, Hodgkin Lymphona, """ 4 122 0 0 1 0 0 DOPEY2 9980 broad.mit.edu 37 21 37633010 37633010 + Silent SNP T T C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr21:37633010T>C ENST00000399151.3 + 24 5380 c.5295T>C c.(5293-5295)ttT>ttC p.F1765F NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 1765 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TGTTGCAGTTTTGCTATGCTT 0.388000 63 143 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578263 7578263 + Nonsense_Mutation SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr17:7578263G>A ENST00000420246.2 - 6 718 c.586C>T c.(586-588)Cga>Tga p.R196* TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 196 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 sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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) CCTTCCACTCGGATAAGATGC 0.552000 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) 18 29 0 0 1 0 0 IL31RA 133396 broad.mit.edu 37 5 55164714 55164714 + Nonsense_Mutation SNP C C T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr5:55164714C>T ENST00000396834.1 + 5 689 c.193C>T c.(193-195)Cag>Tag p.Q65* IL31RA_ENST00000396836.2_Nonsense_Mutation_p.Q84*|IL31RA_ENST00000359040.5_Nonsense_Mutation_p.Q84*|IL31RA_ENST00000297015.3_Intron|IL31RA_ENST00000447346.2_Nonsense_Mutation_p.Q84*|IL31RA_ENST00000490985.1_5'UTR|IL31RA_ENST00000354961.4_Nonsense_Mutation_p.Q65* NM_001242638.1 NP_001229567.1 Q8NI17 IL31R_HUMAN interleukin 31 receptor A 52 Fibronectin type-III 1. anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) CAGTTATACCCAGTACACAGT 0.433000 13 88 0 0 1 0 0 EMC2 9694 broad.mit.edu 37 8 109491251 109491251 + Missense_Mutation SNP C C T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr8:109491251C>T ENST00000220853.3 + 10 754 c.719C>T c.(718-720)gCt>gTt p.A240V EMC2_ENST00000520294.1_3'UTR NM_014673.3 NP_055488.1 ER membrane protein complex subunit 2 AGTCATATTGCTTCTAATCCA 0.328000 13 56 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167277997 167277997 + Missense_Mutation SNP C C T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr3:167277997C>T ENST00000308378.3 - 5 811 c.506G>A c.(505-507)gGg>gAg p.G169E WDR49_ENST00000453925.2_Missense_Mutation_p.G222E|WDR49_ENST00000476376.1_5'UTR|WDR49_ENST00000479765.1_Intron NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 169 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 AACAGTAGACCCTGTATCAGA 0.378000 11 43 0 0 1 0 0 BCL3 602 broad.mit.edu 37 19 45262694 45262694 + Missense_Mutation SNP C C T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr19:45262694C>T ENST00000164227.5 + 9 1431 c.1187C>T c.(1186-1188)tCc>tTc p.S396F NM_005178.4 NP_005169.2 P20749 BCL3_HUMAN B-cell CLL/lymphoma 3 396 Pro/Ser-rich. DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm protein binding, bridging|transcription factor binding kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Lung NSC(12;0.000698)|all_lung(12;0.002) Ovarian(192;0.0728) GGTCTTCTCTCCGCATCACCA 0.622000 T IGH@ CLL 21 310 0 0 1 0 0 WAS 7454 broad.mit.edu 37 X 48545338 48545338 + Missense_Mutation SNP G G T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chrX:48545338G>T ENST00000376701.4 + 7 803 c.728G>T c.(727-729)gGa>gTa p.G243V WAS_ENST00000483750.1_3'UTR NM_000377.2 NP_000368.1 P42768 WASP_HUMAN Wiskott-Aldrich syndrome 243 CRIB. blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway actin cytoskeleton|cytosol identical protein binding|small GTPase regulator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(315;1.27e-10) GCACCCAGTGGATTCAAGTGA 0.552000 """Mis, N, F, S""" lymphoma 4 4 0.184627 0.184627 1 1 0 NEBL 10529 broad.mit.edu 37 10 21115407 21115407 + Missense_Mutation SNP C C T rs151035799 byFrequency TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr10:21115407C>T ENST00000377122.4 - 18 2234 c.1838G>A c.(1837-1839)cGa>cAa p.R613Q NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 613 regulation of actin filament length actin binding|structural constituent of muscle p.R613L(1) NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TTTCTTCACTCGTTCGATCTC 0.323000 5 167 0 0 1 0 0 MERTK 10461 broad.mit.edu 37 2 112777075 112777075 + Missense_Mutation SNP G G T rs147779020 by1000genomes TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr2:112777075G>T ENST00000295408.4 + 16 2422 c.2165G>T c.(2164-2166)cGa>cTa p.R722L MERTK_ENST00000409780.1_Missense_Mutation_p.R546L|MERTK_ENST00000421804.2_Missense_Mutation_p.R722L Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 722 Protein kinase. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 TTTCTTCATCGAGATTTAGCT 0.463000 38 48 1.23103e-26 1.36781e-26 1 1 0 BRSK1 84446 broad.mit.edu 37 19 55814114 55814114 + Missense_Mutation SNP C C T rs144130246 TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr19:55814114C>T ENST00000309383.1 + 10 1184 c.907C>T c.(907-909)Cgg>Tgg p.R303W BRSK1_ENST00000590333.1_Missense_Mutation_p.R319W|BRSK1_ENST00000585418.1_Missense_Mutation_p.R303W|BRSK1_ENST00000326848.7_5'UTR NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 303 R -> W (in a gastric adenocarcinoma sample; somatic mutation). establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity p.R303W(3) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) CCCTGGCCGCCGGGTAGCCAT 0.632000 4 49 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38908865 38908865 + Silent SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr3:38908865G>A ENST00000450244.1 - 23 4096 c.3898C>T c.(3898-3900)Ctg>Ttg p.L1300L SCN11A_ENST00000444237.2_Silent_p.L1300L|SCN11A_ENST00000456224.3_Silent_p.L1262L|SCN11A_ENST00000302328.3_Silent_p.L1300L Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1300 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) AAGAGATTCAGAGTGAAGAAT 0.363000 17 42 0 0 1 0 0 SLC6A2 6530 broad.mit.edu 37 16 55719074 55719074 + Missense_Mutation SNP C C G TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr16:55719074C>G ENST00000379906.2 + 4 919 c.664C>G c.(664-666)Cac>Gac p.H222D SLC6A2_ENST00000219833.8_Missense_Mutation_p.H222D|SLC6A2_ENST00000567238.1_Missense_Mutation_p.H117D|SLC6A2_ENST00000568943.1_Missense_Mutation_p.H222D|SLC6A2_ENST00000566163.1_Missense_Mutation_p.H222D|SLC6A2_ENST00000561820.1_Missense_Mutation_p.H222D|SLC6A2_ENST00000414754.3_Missense_Mutation_p.H222D NM_001043.3 NP_001034.1 P23975 SC6A2_HUMAN solute carrier family 6 (neurotransmitter transporter), member 2 222 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) CCTGCACCTTCACGAGAGCAG 0.597000 4 37 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152363473 152363473 + Missense_Mutation SNP C C T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr2:152363473C>T ENST00000397345.3 - 163 23708 c.23506G>A c.(23506-23508)Gac>Aac p.D7836N NEB_ENST00000409198.1_Missense_Mutation_p.D6135N|NEB_ENST00000509223.2_5'UTR|NEB_ENST00000603639.1_Missense_Mutation_p.D7836N|NEB_ENST00000427231.2_Missense_Mutation_p.D7836N|NEB_ENST00000172853.10_Missense_Mutation_p.D6135N|NEB_ENST00000604864.1_Missense_Mutation_p.D7836N NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 6135 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TCTGGCGTGTCTTGAACAACT 0.323000 20 32 0 0 1 0 0 MDC1 9656 broad.mit.edu 37 6 30671278 30671278 + Missense_Mutation SNP C C T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr6:30671278C>T ENST00000376406.3 - 11 6246 c.5599G>A c.(5599-5601)Gac>Aac p.D1867N MDC1_ENST00000376405.2_Missense_Mutation_p.D1603N|MDC1-AS1_ENST00000442150.1_RNA NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1867 Required for nuclear localization (NLS2). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 TCTGCCTGGTCTCTCTTTCTC 0.493000 Other conserved DNA damage response genes 6 152 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119903720 119903720 + Silent SNP C C G TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr9:119903720C>G ENST00000313400.4 - 4 1153 c.1053G>C c.(1051-1053)ctG>ctC p.L351L ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000373996.3_Silent_p.L351L|ASTN2_ENST00000361477.3_Intron O75129 ASTN2_HUMAN astrotactin 2 351 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 ACTTCTGCATCAGGGACTCCA 0.592000 24 74 0 0 1 0 0 WDR52 55779 broad.mit.edu 37 3 113115417 113115417 + Missense_Mutation SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr3:113115417G>A ENST00000393845.2 - 14 1793 c.1727C>T c.(1726-1728)gCt>gTt p.A576V WDR52_ENST00000475568.1_5'UTR|WDR52_ENST00000295868.2_Missense_Mutation_p.A576V NM_001164496.1 NP_001157968.1 Q96MT7 WDR52_HUMAN WD repeat domain 52 576 breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 AGTGACACAAGCAGTATGGGG 0.383000 6 103 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 118950344 118950344 + Missense_Mutation SNP C C A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr9:118950344C>A ENST00000328252.3 + 2 1696 c.1327C>A c.(1327-1329)Ctg>Atg p.L443M NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 443 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 TTGCCGCCACCTGCGCCACCC 0.587000 26 77 3.65163e-15 3.96916e-15 1 1 0 CAMK2B 816 broad.mit.edu 37 7 44274242 44274242 + Missense_Mutation SNP A A T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr7:44274242A>T ENST00000395749.2 - 14 1131 c.1055T>A c.(1054-1056)gTc>gAc p.V352D CAMK2B_ENST00000395747.2_Missense_Mutation_p.V328D|CAMK2B_ENST00000353625.4_Missense_Mutation_p.V328D|CAMK2B_ENST00000358707.3_Missense_Mutation_p.V328D|CAMK2B_ENST00000350811.3_Missense_Mutation_p.V352D|CAMK2B_ENST00000347193.4_Missense_Mutation_p.V352D|CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000258682.6_Missense_Mutation_p.V327D|CAMK2B_ENST00000457475.1_Missense_Mutation_p.V328D|CAMK2B_ENST00000440254.2_Missense_Mutation_p.V352D|CAMK2B_ENST00000502837.2_Missense_Mutation_p.V223D NM_001220.4 NP_001211.3 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II beta 352 interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 18 CCTCACCTTGACTCCATCTGC 0.647000 14 28 0 0 1 0 0 ITGA5 3678 broad.mit.edu 37 12 54797513 54797513 + Missense_Mutation SNP G G A rs143754928 by1000genomes TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr12:54797513G>A ENST00000293379.4 - 17 1933 c.1672C>T c.(1672-1674)Cgg>Tgg p.R558W RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 558 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 AGTGCCCGCCGTACCCCTCCC 0.547000 10 56 0 0 1 0 0 ZNFX1 57169 broad.mit.edu 37 20 47887961 47887961 + Missense_Mutation SNP G G C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr20:47887961G>C ENST00000396105.1 - 3 634 c.388C>G c.(388-390)Ccc>Gcc p.P130A ZNFX1_ENST00000371754.4_Missense_Mutation_p.P130A|ZNFX1_ENST00000371752.1_Missense_Mutation_p.P130A NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 130 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TTCTGGTGGGGAGTCCGCCAC 0.527000 5 203 0 0 1 0 0 OR1C1 26188 broad.mit.edu 37 1 247921555 247921555 + Missense_Mutation SNP C C G TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:247921555C>G ENST00000408896.2 - 1 427 c.154G>C c.(154-156)Gac>Cac p.D52H NM_012353.2 NP_036485.2 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, member 1 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) AGGTGAGAGTCAAAGCCAATC 0.473000 3 49 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233296064 233296064 + Missense_Mutation SNP A A T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:233296064A>T ENST00000258229.8 - 19 3716 c.3482T>A c.(3481-3483)cTc>cAc p.L1161H PCNXL2_ENST00000488780.2_Missense_Mutation_p.L294H|PCNXL2_ENST00000520463.1_5'UTR NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1161 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) TTTGTTTTTGAGAATGGGGTG 0.443000 5 49 0 0 1 0 0 PGAM4 441531 broad.mit.edu 37 X 77224607 77224607 + Missense_Mutation SNP C C G TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chrX:77224607C>G ENST00000458128.1 - 1 528 c.529G>C c.(529-531)Gag>Cag p.E177Q ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000350425.4_Intron NM_001029891.2 NP_001025062.1 Q8N0Y7 PGAM4_HUMAN phosphoglycerate mutase family member 4 177 glycolysis 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity endometrium(2)|lung(4) 6 CGTTTCCCCTCCTTGATCTGG 0.517000 10 87 0 0 1 0 0 SLC39A11 201266 broad.mit.edu 37 17 71027795 71027795 + Missense_Mutation SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr17:71027795G>A ENST00000542342.2 - 4 294 c.206C>T c.(205-207)tCc>tTc p.S69F SLC39A11_ENST00000255559.3_Missense_Mutation_p.S69F|SLC39A11_ENST00000579732.1_Missense_Mutation_p.S69F NM_001159770.1 NP_001153242.1 Q8N1S5 S39AB_HUMAN solute carrier family 39, member 11 69 zinc ion transport integral to membrane metal ion transmembrane transporter activity endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 GCCCCCAGAGGACGTGGCCAT 0.532000 25 33 0 0 1 0 0 ZNF496 84838 broad.mit.edu 37 1 247464553 247464553 + Missense_Mutation SNP C C G TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:247464553C>G ENST00000294753.4 - 9 1496 c.1032G>C c.(1030-1032)gaG>gaC p.E344D ZNF496_ENST00000366498.2_Missense_Mutation_p.E380D|ZNF496_ENST00000462139.1_5'UTR NM_032752.1 NP_116141.1 Q96IT1 ZN496_HUMAN zinc finger protein 496 344 positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) CCAGGCTGTTCTCTAGAGATC 0.617000 3 106 0 0 1 0 0 PBX3 5090 broad.mit.edu 37 9 128691974 128691974 + Missense_Mutation SNP G G T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr9:128691974G>T ENST00000373487.4 + 4 637 c.557G>T c.(556-558)cGa>cTa p.R186L PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000373489.5_Missense_Mutation_p.R186L|PBX3_ENST00000373483.2_Missense_Mutation_p.R5L|PBX3_ENST00000447726.2_Missense_Mutation_p.R111L|PBX3_ENST00000342287.5_Missense_Mutation_p.R186L P40426 PBX3_HUMAN pre-B-cell leukemia homeobox 3 186 anterior compartment pattern formation|posterior compartment specification sequence-specific DNA binding transcription factor activity biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2) 24 AACCTTCTCCGAGAACAGAGT 0.383000 32 92 2.54651e-27 2.86124e-27 1 1 0 TADA2A 6871 broad.mit.edu 37 17 35830541 35830541 + Silent SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr17:35830541G>A ENST00000394395.2 + 13 1106 c.933G>A c.(931-933)gaG>gaA p.E311E TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000225396.6_Silent_p.E311E NM_001166105.1 NP_001159577.1 O75478 TAD2A_HUMAN transcriptional adaptor 2A 311 histone H3 acetylation|transcription from RNA polymerase II promoter chromosome|PCAF complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1) 13 AGACACGGGAGGAAGAGCGCC 0.517000 28 148 0 0 1 0 0 MAPK6 5597 broad.mit.edu 37 15 52356644 52356644 + Missense_Mutation SNP G G C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr15:52356644G>C ENST00000261845.5 + 6 2420 c.1613G>C c.(1612-1614)aGt>aCt p.S538T CTD-2184D3.5_ENST00000558607.1_RNA NM_002748.3 NP_002739.1 Q16659 MK06_HUMAN mitogen-activated protein kinase 6 538 cell cycle ATP binding|MAP kinase activity breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 20 all cancers(107;0.0028) ATTCAGCTTAGTTCCCAGCAT 0.383000 10 12 0 0 1 0 0 C1orf116 79098 broad.mit.edu 37 1 207196808 207196808 + Missense_Mutation SNP T T C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:207196808T>C ENST00000359470.5 - 4 550 c.301A>G c.(301-303)Atc>Gtc p.I101V C1orf116_ENST00000461135.2_5'UTR NM_023938.5 NP_076427.2 Q9BW04 SARG_HUMAN chromosome 1 open reading frame 116 101 cytoplasm|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1) 29 Prostate(682;0.19) TGCTGAGTGATGGTCTCCTCT 0.567000 14 45 0 0 1 0 0 TRIM35 23087 broad.mit.edu 37 8 27145561 27145561 + Missense_Mutation SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr8:27145561G>A ENST00000305364.4 - 6 1071 c.988C>T c.(988-990)Cgc>Tgc p.R330C TRIM35_ENST00000521253.1_3'UTR NM_171982.3 NP_741983.2 Q9UPQ4 TRI35_HUMAN tripartite motif containing 35 330 B30.2/SPRY. apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle cytoplasm|nucleus zinc ion binding breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 14 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141) ACCTGCACGCGGTAGCCATGG 0.657000 3 57 0 0 1 0 0 ZNF860 344787 broad.mit.edu 37 3 32032046 32032046 + Missense_Mutation SNP G G A rs143925165 by1000genomes TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr3:32032046G>A ENST00000360311.4 + 2 2024 c.1475G>A c.(1474-1476)cGt>cAt p.R492H NM_001137674.2 NP_001131146.2 A6NHJ4 ZN860_HUMAN zinc finger protein 860 492 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(1) 8 AAGACCTTCCGTCACAATTCA 0.403000 4 109 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51791717 51791717 + Missense_Mutation SNP G G T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr15:51791717G>T ENST00000251076.5 - 18 3991 c.3704C>A c.(3703-3705)tCt>tAt p.S1235Y DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Missense_Mutation_p.S1235Y NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1235 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) CAAGTCTATAGATCTAAGAAG 0.423000 7 102 5.4927e-09 5.78179e-09 1 1 0 MUC17 140453 broad.mit.edu 37 7 100686290 100686290 + Missense_Mutation SNP C C T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr7:100686290C>T ENST00000306151.4 + 3 11657 c.11593C>T c.(11593-11595)Cgt>Tgt p.R3865C NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3865 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CACTACCATACGTATTTCAAT 0.493000 19 133 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81688716 81688716 + Silent SNP T T C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr12:81688716T>C ENST00000550584.2 - 23 3118 c.2823A>G c.(2821-2823)agA>agG p.R941R RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000407050.4_Silent_p.R867R|PPFIA2_ENST00000550359.2_Silent_p.R788R|PPFIA2_ENST00000549396.1_Silent_p.R941R|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Silent_p.R926R|PPFIA2_ENST00000548586.1_Silent_p.R941R|PPFIA2_ENST00000443686.3_Silent_p.R842R|PPFIA2_ENST00000541017.1_Silent_p.R158R|PPFIA2_ENST00000541570.2_Silent_p.R508R|PPFIA2_ENST00000552948.1_Silent_p.R941R|PPFIA2_ENST00000333447.7_Silent_p.R926R NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 867 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 TTCCAATTTCTCTCTGGATCT 0.493000 5 32 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108110646 108110646 + Silent SNP C C G TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr3:108110646C>G ENST00000273353.3 - 38 5507 c.5451G>C c.(5449-5451)ctG>ctC p.L1817L NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1817 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 TACTCCCCATCAGGGCCATCT 0.473000 5 247 0 0 1 0 0 NFAT5 10725 broad.mit.edu 37 16 69693761 69693761 + Missense_Mutation SNP C C G TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr16:69693761C>G ENST00000349945.1 + 8 2598 c.1046C>G c.(1045-1047)tCc>tGc p.S349C NFAT5_ENST00000566899.1_Missense_Mutation_p.S349C|NFAT5_ENST00000567239.1_Missense_Mutation_p.S443C|NFAT5_ENST00000354436.2_Missense_Mutation_p.S425C|NFAT5_ENST00000432919.1_Missense_Mutation_p.S443C|NFAT5_ENST00000393742.2_Missense_Mutation_p.S349C NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 425 RHD. excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 AAAGATGGCTCCACTTTGACA 0.388000 14 102 0 0 1 0 0 PRDM8 56978 broad.mit.edu 37 4 81123237 81123237 + Silent SNP C C T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr4:81123237C>T ENST00000339711.4 + 10 1852 c.621C>T c.(619-621)ggC>ggT p.G207G PRDM8_ENST00000415738.2_Silent_p.G207G|PRDM8_ENST00000504452.1_Silent_p.G207G NM_020226.3 NP_064611.3 Q9NQV8 PRDM8_HUMAN PR domain containing 8 207 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 gcggcggcggcggtggcaaag 0.657000 OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 27 0 0 1 0 0 INSL5 10022 broad.mit.edu 37 1 67263711 67263711 + Missense_Mutation SNP C C G TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:67263711C>G ENST00000304526.2 - 2 427 c.393G>C c.(391-393)ttG>ttC p.L131F NM_005478.4 NP_005469.2 Q9Y5Q6 INSL5_HUMAN insulin-like 5 131 extracellular region hormone activity breast(2)|endometrium(1)|lung(5) 8 AAAGAGCACTCAAATCAGTCA 0.403000 9 54 0 0 1 0 0 TLR5 7100 broad.mit.edu 37 1 223285659 223285659 + Missense_Mutation SNP T T C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:223285659T>C ENST00000540964.1 - 4 1176 c.715A>G c.(715-717)Aca>Gca p.T239A TLR5_ENST00000342210.6_Missense_Mutation_p.T239A O60602 TLR5_HUMAN toll-like receptor 5 239 cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) ATGTCCACTGTCCAGCCATTT 0.468000 3 92 0 0 1 0 0 NUP43 348995 broad.mit.edu 37 6 150064827 150064827 + Missense_Mutation SNP C C T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr6:150064827C>T ENST00000340413.2 - 3 344 c.268G>A c.(268-270)Gct>Act p.A90T NUP43_ENST00000367403.3_Missense_Mutation_p.A151T|NUP43_ENST00000460354.2_Missense_Mutation_p.A90T|NUP43_ENST00000367404.4_Missense_Mutation_p.A90T|NUP43_ENST00000463048.3_5'UTR NM_198887.1 NP_942590.1 Q8NFH3 NUP43_HUMAN nucleoporin 43kDa 90 carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101) GATGAAGCAGCGACAATTCTT 0.323000 11 35 0 0 1 0 0 MED1 5469 broad.mit.edu 37 17 37565808 37565808 + Missense_Mutation SNP C C G TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr17:37565808C>G ENST00000300651.6 - 17 2889 c.2666G>C c.(2665-2667)aGt>aCt p.S889T MED1_ENST00000394287.3_Intron NM_004774.3 NP_004765.2 Q15648 MED1_HUMAN mediator complex subunit 1 889 Interaction with ESR1. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) ATTATCCCCACTTTGGCTGCT 0.398000 HNSCC(31;0.082) 48 207 0 0 1 0 0 UBXN2B 137886 broad.mit.edu 37 8 59358506 59358506 + Missense_Mutation SNP G G C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr8:59358506G>C ENST00000399598.2 + 7 834 c.712G>C c.(712-714)Gag>Cag p.E238Q NM_001077619.1 NP_001071087.1 Q14CS0 UBX2B_HUMAN UBX domain protein 2B 238 cytosol|endoplasmic reticulum|Golgi apparatus|nucleus endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 CTCTCCAGAAGAGGAGGATAA 0.348000 4 74 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587657 43587657 + RNA SNP C C T rs148404065 by1000genomes TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr17:43587657C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GGTGACAACACATCTGTTTTA 0.323000 4 60 0 0 1 0 0 DACT1 51339 broad.mit.edu 37 14 59113480 59113480 + Silent SNP C C T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr14:59113480C>T ENST00000395153.3 + 4 2175 c.2028C>T c.(2026-2028)taC>taT p.Y676Y DACT1_ENST00000335867.4_Silent_p.Y713Y|DACT1_ENST00000395151.3_Silent_p.Y432Y|DACT1_ENST00000556859.1_Silent_p.Y432Y|DACT1_ENST00000541264.2_Silent_p.Y432Y NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 713 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 CTCTGCCCTACGCCAGCCCCT 0.672000 47 40 0 0 1 0 0 ANKRD20A11P 391267 broad.mit.edu 37 21 15326403 15326403 + RNA SNP G G C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr21:15326403G>C ENST00000344693.5 - 0 804 NR_027270.1 CTTTTCCATTGACTATTCTGT 0.433000 7 110 0 0 1 0 0 ZNF615 284370 broad.mit.edu 37 19 52496695 52496695 + Missense_Mutation SNP C C T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr19:52496695C>T ENST00000602063.1 - 6 1983 c.1634G>A c.(1633-1635)tGt>tAt p.C545Y ZNF615_ENST00000376716.5_Missense_Mutation_p.C545Y|ZNF615_ENST00000391795.3_Missense_Mutation_p.C550Y|ZNF615_ENST00000598071.1_Missense_Mutation_p.C556Y|ZNF615_ENST00000594083.1_Missense_Mutation_p.C556Y Q8N8J6 ZN615_HUMAN zinc finger protein 615 545 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 42 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) GCCTTTTCCACACTCATTGCA 0.438000 11 94 0 0 1 0 0 PDPN 10630 broad.mit.edu 37 1 13940881 13940881 + Missense_Mutation SNP A A G TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:13940881A>G ENST00000294489.6 + 5 1026 c.685A>G c.(685-687)Atg>Gtg p.M229V PDPN_ENST00000513143.1_Missense_Mutation_p.M111V|PDPN_ENST00000376061.4_Missense_Mutation_p.M111V|PDPN_ENST00000487038.1_Missense_Mutation_p.M111V|PDPN_ENST00000475043.1_Missense_Mutation_p.M111V|PDPN_ENST00000509009.1_Missense_Mutation_p.M148V|PDPN_ENST00000376057.4_Missense_Mutation_p.M229V Q86YL7 PDPN_HUMAN podoplanin 153 cell morphogenesis|lymphangiogenesis|regulation of cell shape filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(185;0.249) all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678) CGTTGTGGTTATGCGAAAAAT 0.423000 20 96 0 0 1 0 0 TBC1D25 4943 broad.mit.edu 37 X 48419138 48419138 + Silent SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chrX:48419138G>A ENST00000376771.4 + 6 2183 c.1842G>A c.(1840-1842)ggG>ggA p.G614G TBC1D25_ENST00000537536.1_Silent_p.G360G|TBC1D25_ENST00000427713.1_3'UTR NM_002536.2 NP_002527.1 Q3MII6 TBC25_HUMAN TBC1 domain family, member 25 614 intracellular Rab GTPase activator activity large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 TTGGCCGGGGGAACCCATTCA 0.602000 8 111 0 0 1 0 0 CYP4F12 66002 broad.mit.edu 37 19 15795668 15795668 + Missense_Mutation SNP G G C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr19:15795668G>C ENST00000550308.1 + 8 1341 c.961G>C c.(961-963)Gag>Cag p.E321Q CYP4F12_ENST00000324632.9_Missense_Mutation_p.E321Q NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) TATAAGAGCAGAGGCTGACAC 0.527000 4 73 0 0 1 0 0 SNX13 23161 broad.mit.edu 37 7 17838335 17838335 + Missense_Mutation SNP C C G TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr7:17838335C>G ENST00000409389.1 - 24 2696 c.2524G>C c.(2524-2526)Gcc>Ccc p.A842P SNX13_ENST00000428135.3_Missense_Mutation_p.A831P|SNX13_ENST00000496855.1_5'UTR Q9Y5W8 SNX13_HUMAN sorting nexin 13 842 cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(10;0.0261)|all_lung(11;0.0521) ACTGAGTCGGCTACTTGTTCA 0.333000 6 13 0 0 1 0 0 PRDM15 63977 broad.mit.edu 37 21 43239971 43239971 + Missense_Mutation SNP C C T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr21:43239971C>T ENST00000422911.1 - 19 2499 c.2398G>A c.(2398-2400)Gtc>Atc p.V800I PRDM15_ENST00000538201.1_Missense_Mutation_p.V763I|PRDM15_ENST00000269844.3_Missense_Mutation_p.V1109I|PRDM15_ENST00000398548.1_Missense_Mutation_p.V780I|PRDM15_ENST00000447207.2_Missense_Mutation_p.V743I P57071 PRD15_HUMAN PR domain containing 15 1109 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 TACTCGCGGACATTGTCGTGC 0.622000 20 36 0 0 1 0 0 HK3 3101 broad.mit.edu 37 5 176317899 176317899 + Missense_Mutation SNP G G A rs113978418 byFrequency TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr5:176317899G>A ENST00000292432.5 - 5 549 c.458C>T c.(457-459)gCg>gTg p.A153V NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 153 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CACAGGCTGCGCATCCAGGAA 0.597000 26 74 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237791371 237791371 + Missense_Mutation SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:237791371G>A ENST00000366574.2 + 41 6748 c.6431G>A c.(6430-6432)cGt>cAt p.R2144H RYR2_ENST00000360064.6_Missense_Mutation_p.R2142H|RYR2_ENST00000542537.1_Missense_Mutation_p.R2128H NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2144 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTCATGATTCGTGGATTAGGG 0.408000 21 39 0 0 1 0 0 UBAP2 55833 broad.mit.edu 37 9 33988994 33988994 + Missense_Mutation SNP C C T rs112150520 by1000genomes TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr9:33988994C>T ENST00000379238.1 - 5 536 c.419G>A c.(418-420)aGa>aAa p.R140K UBAP2_ENST00000418786.2_Missense_Mutation_p.R140K|UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000449054.1_Missense_Mutation_p.R140K|UBAP2_ENST00000379239.4_5'UTR|UBAP2_ENST00000360802.1_Missense_Mutation_p.R140K Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 140 endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) ATTGCCGCCTCTTCCTTTCCG 0.428000 9 139 0 0 1 0 0 EXO1 9156 broad.mit.edu 37 1 242035540 242035540 + Frame_Shift_Del DEL G G - TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:242035540delG ENST00000366548.3 + 12 2067 c.1474delG c.(1474-1476)aafs p.E493fs EXO1_ENST00000518483.1_Frame_Shift_Del_p.E493fs|EXO1_ENST00000348581.5_Frame_Shift_Del_p.E493fs NM_130398.3 NP_569082.2 Q9UQ84 EXO1_HUMAN exonuclease 1 493 meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2) 45 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) AAGGAAAAATGAAGAAAGTGG 0.388 Editing and processing nucleases 37 189 --- --- --- --- SUDS3P1 285647 broad.mit.edu 37 5 177398373 177398396 + RNA DEL AGGACGAAGAGCTGGAGAGCGCCA AGGACGAAGAGCTGGAGAGCGCCA - rs70994948 TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA ENST00000511650.1 + 0 145 GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA 0.683 5 2 --- --- --- --- MMP2 4313 broad.mit.edu 37 16 55513411 55513411 + Frame_Shift_Del DEL G G - TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr16:55513411delG ENST00000219070.4 + 1 529 c.20delG c.(19-21)cgfs p.R7fs MMP2_ENST00000570308.1_Intron NM_004530.4 NP_004521.1 P08253 MMP2_HUMAN matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) 7 angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) CTAATGGCCCGGGGCGCGCTC 0.751 2 4 --- --- --- --- MARK4 57787 broad.mit.edu 37 19 45801106 45801106 + Frame_Shift_Del DEL C C - TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr19:45801106delC ENST00000300843.4 + 15 2068 c.1771delC c.(1771-1773)ccfs p.P592fs MARK4_ENST00000262891.4_Frame_Shift_Del_p.P592fs NM_031417.3 NP_113605.2 Q96L34 MARK4_HUMAN MAP/microtubule affinity-regulating kinase 4 592 microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 31 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) GCAGAATGGGCCCCCTGCCTC 0.711 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085863 11085864 + RNA INS - - C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr21:11085863_11085864insC 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) catcaccaccaccaccatcacc 0.579 6 13 --- --- --- ---