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 TP53INP2 58476 broad.mit.edu 37 20 33296549 33296549 + Silent SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr20:33296549C>T ENST00000374810.3 + 3 395 c.6C>T c.(4-6)ttC>ttT p.F2F NCOA6_ENST00000593786.1_Intron|TP53INP2_ENST00000374809.2_Silent_p.F2F NM_021202.1 NP_067025.1 Q8IXH6 T53I2_HUMAN tumor protein p53 inducible nuclear protein 2 2 nucleus endometrium(1)|urinary_tract(1) 2 CCACCATGTTCCAGCGCCTCT 0.652000 11 10 0 0 0.069234 0 0 KIAA2018 205717 broad.mit.edu 37 3 113376298 113376298 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr3:113376298G>C ENST00000316407.4 - 7 4641 c.4231C>G c.(4231-4233)Cct>Gct p.P1411A KIAA2018_ENST00000478658.1_Missense_Mutation_p.P1411A|KIAA2018_ENST00000491165.1_Intron NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 1411 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 CTCAATGCAGGAGTCACAAAG 0.488000 26 23 0 0 0.099896 0 0 RTTN 25914 broad.mit.edu 37 18 67872392 67872392 + Missense_Mutation SNP A A C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr18:67872392A>C ENST00000255674.6 - 2 477 c.191T>G c.(190-192)gTt>gGt p.V64G RTTN_ENST00000437017.1_Missense_Mutation_p.V64G|RTTN_ENST00000454359.1_Missense_Mutation_p.V64G NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 64 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) CAGGTTCAGAACCTCTTCCTT 0.388000 76 61 0 0 0.139131 0 0 CDH3 1001 broad.mit.edu 37 16 68713791 68713791 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr16:68713791G>C ENST00000264012.4 + 7 1325 c.781G>C c.(781-783)Gaa>Caa p.E261Q CDH3_ENST00000429102.2_Missense_Mutation_p.E261Q|CDH3_ENST00000581171.1_Missense_Mutation_p.E206Q NM_001793.4 NP_001784.2 P22223 CADH3_HUMAN cadherin 3, type 1, P-cadherin (placental) 261 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(2) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) CCATAGCCAAGAACCAAAGGA 0.547000 62 47 0 0 0.139131 0 0 PELI2 57161 broad.mit.edu 37 14 56755262 56755262 + Silent SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr14:56755262C>T ENST00000267460.4 + 4 703 c.417C>T c.(415-417)ttC>ttT p.F139F NM_021255.2 NP_067078.1 Q9HAT8 PELI2_HUMAN pellino E3 ubiquitin protein ligase family member 2 139 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 22 TATCCAGGTTCGCCTGCAGGA 0.498000 25 23 0 0 0.083992 0 0 ZWILCH 55055 broad.mit.edu 37 15 66828290 66828290 + Nonsense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr15:66828290C>G ENST00000307897.5 + 15 1741 c.1361C>G c.(1360-1362)tCa>tGa p.S454* ZWILCH_ENST00000565627.1_Nonsense_Mutation_p.S340*|ZWILCH_ENST00000535141.2_Nonsense_Mutation_p.S340*|ZWILCH_ENST00000446801.2_Nonsense_Mutation_p.S340* NM_017975.3 NP_060445.3 Q9H900 ZWILC_HUMAN zwilch kinetochore protein 454 cell division|mitotic cell cycle checkpoint|mitotic prometaphase condensed chromosome kinetochore|cytosol protein binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1) 18 ATTGCTCCATCAGTAGATATA 0.333000 27 2 0 0 0.134883 0 0 GTF3C1 2975 broad.mit.edu 37 16 27561125 27561125 + Missense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr16:27561125C>G ENST00000356183.4 - 1 102 c.87G>C c.(85-87)gaG>gaC p.E29D GTF3C1_ENST00000561623.1_Missense_Mutation_p.E29D NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 29 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 GCACTCGCGTCTCCAGCCGGC 0.652000 22 22 0 0 0.083992 0 0 UBE4B 10277 broad.mit.edu 37 1 10166258 10166258 + Silent SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:10166258C>G ENST00000343090.6 + 7 888 c.813C>G c.(811-813)ctC>ctG p.L271L UBE4B_ENST00000253251.8_Intron|UBE4B_ENST00000377157.3_Intron NM_001105562.2 NP_001099032.1 O95155 UBE4B_HUMAN ubiquitination factor E4B 271 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) AATTTAGCCTCTATGAAAGTA 0.448000 56 31 0 0 0.139131 0 0 BAI3 577 broad.mit.edu 37 6 70098718 70098718 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr6:70098718G>C ENST00000370598.1 + 32 5325 c.4504G>C c.(4504-4506)Gag>Cag p.E1502Q BAI3_ENST00000238918.8_Missense_Mutation_p.E708Q|BAI3_ENST00000546190.1_Missense_Mutation_p.E466Q NM_001704.2 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1502 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GAGGCCAGCAGAGTGGGAGAA 0.428000 12 24 0 0 0.119110 0 0 CDH1 999 broad.mit.edu 37 16 68844153 68844153 + Silent SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr16:68844153G>A ENST00000261769.5 + 6 932 c.741G>A c.(739-741)gaG>gaA p.E247E CDH1_ENST00000422392.2_Silent_p.E247E|CDH1_ENST00000562836.1_3'UTR NM_004360.3 NP_004351.1 P12830 CADH1_HUMAN cadherin 1, type 1, E-cadherin (epithelial) 247 Cadherin 1. adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.?(4) NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 311 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) ATCCAATGGAGATTTTGATCA 0.478000 """Mis, N, F, S""" """lobular breast, gastric""" gastric Hereditary Diffuse Gastric Cancer 66 78 0 0 0.139131 0 0 TTC17 55761 broad.mit.edu 37 11 43471676 43471676 + Missense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr11:43471676C>G ENST00000039989.4 + 20 2845 c.2831C>G c.(2830-2832)gCa>gGa p.A944G NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 944 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 CAGCAGCCAGCAATGGAGCCT 0.498000 56 59 0 0 0.139131 0 0 LEPREL2 10536 broad.mit.edu 37 12 6938985 6938985 + RNA SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr12:6938985C>T ENST00000251761.8 + 0 531 LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA NM_014262.3 NP_055077.2 leprecan-like 2 breast(1)|cervix(1)|endometrium(2)|lung(6) 10 TGCCCCCCGTCCCAGGGCTCT 0.627000 OREG0021637 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 44 43 0 0 0.111260 0 0 USP13 8975 broad.mit.edu 37 3 179458161 179458161 + Splice_Site SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr3:179458161G>A ENST00000263966.3 + 11 1851 c.e11+1 USP13_ENST00000482333.1_Splice_Site|USP13_ENST00000496897.1_Splice_Site NM_003940.2 NP_003931.2 Q92995 UBP13_HUMAN ubiquitin specific peptidase 13 (isopeptidase T-3) ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 46 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) TCTAGTAGAGGTGAGTAGTCA 0.527000 26 42 0 0 0.134883 0 0 HOXC6 3223 broad.mit.edu 37 12 54422653 54422653 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr12:54422653G>C ENST00000394331.3 + 2 1812 c.102G>C c.(100-102)caG>caC p.Q34H RP11-834C11.12_ENST00000513209.1_Intron|HOXC4_ENST00000303406.4_Intron|HOXC6_ENST00000243108.4_Missense_Mutation_p.Q116H|RP11-834C11.14_ENST00000512206.1_RNA NM_153693.4 NP_710160.1 P09630 HXC6_HUMAN homeobox C6 116 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CCCAGGACCAGAAAGCCAGTA 0.463000 44 66 0 0 0.139131 0 0 TAS1R3 83756 broad.mit.edu 37 1 1269434 1269434 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:1269434G>A ENST00000339381.5 + 6 2181 c.2149G>A c.(2149-2151)Gag>Aag p.E717K NM_152228.1 NP_689414 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 717 detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) GCTGCCCACGGAGGCGCTGGT 0.667000 8 22 0 0 0.038147 0 0 SAMD9 54809 broad.mit.edu 37 7 92735067 92735067 + Missense_Mutation SNP T T C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr7:92735067T>C ENST00000379958.2 - 3 613 c.344A>G c.(343-345)aAg>aGg p.K115R NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 115 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) CTCTTTACCCTTTTGTTTTTG 0.378000 3 148 0 0 0.009096 0 0 SIRPA 140885 broad.mit.edu 37 20 1918133 1918133 + Silent SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr20:1918133C>G ENST00000358771.4 + 8 1586 c.1434C>G c.(1432-1434)ctC>ctG p.L478L SIRPA_ENST00000400068.3_Silent_p.L482L|SIRPA_ENST00000356025.3_Silent_p.L478L NM_001040023.1 NP_001035112.1 P78324 SHPS1_HUMAN signal-regulatory protein alpha 478 blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) TGGTCCACCTCAACCGGACCC 0.642000 46 64 0 0 0.124865 0 0 SCAP 22937 broad.mit.edu 37 3 47460993 47460993 + Missense_Mutation SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr3:47460993C>T ENST00000265565.5 - 13 2177 c.1765G>A c.(1765-1767)Gag>Aag p.E589K SCAP_ENST00000545718.1_Missense_Mutation_p.E197K|SCAP_ENST00000441517.2_Missense_Mutation_p.E334K NM_012235.2 NP_036367.2 Q12770 SCAP_HUMAN SREBF chaperone 589 cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 26 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) GTCTGGTTCTCAGGTAGCTTA 0.647000 53 5 0 0 0.139131 0 0 ABCA13 154664 broad.mit.edu 37 7 48312658 48312658 + Nonsense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr7:48312658C>G ENST00000435803.1 + 17 3419 c.3395C>G c.(3394-3396)tCa>tGa p.S1132* NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1132 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TCAAACCTCTCAGCAAATGTC 0.353000 28 29 0 0 0.108266 0 0 STX4 6810 broad.mit.edu 37 16 31049910 31049910 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr16:31049910G>A ENST00000394998.1 + 9 981 c.638G>A c.(637-639)cGc>cAc p.R213H STX4_ENST00000493902.1_3'UTR|STX4_ENST00000313843.3_Missense_Mutation_p.R215H NM_001272096.1 NP_001259025.1 Q12846 STX4_HUMAN syntaxin 4 215 Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology. intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole SNAP receptor activity NS(2)|breast(1)|large_intestine(3)|lung(3) 9 CAGCTTGAACGCAGTATTCGT 0.587000 31 35 0 0 0.125774 0 0 MYO18B 84700 broad.mit.edu 37 22 26164375 26164375 + Silent SNP A A G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr22:26164375A>G ENST00000335473.7 + 4 742 c.492A>G c.(490-492)tcA>tcG p.S164S MYO18B_ENST00000536101.1_Silent_p.S164S|MYO18B_ENST00000407587.2_Silent_p.S164S NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 164 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 ACCCGGACTCAGCCAAGCCAG 0.582000 3 22 0 0 0.115264 0 0 TP53 7157 broad.mit.edu 37 17 7573010 7573010 + Splice_Site SNP T T C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr17:7573010T>C ENST00000420246.2 - 12 1366 c.e12-2 TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.?(3) 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) TTCAGGTGGCTGTAGGAGACA 0.507000 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) 55 2 0 0 0.139131 0 0 NLRP14 338323 broad.mit.edu 37 11 7079545 7079545 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr11:7079545G>A ENST00000299481.4 + 8 2843 c.2497G>A c.(2497-2499)Gag>Aag p.E833K NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 833 cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) GGCTGGCTGTGAGTATCTTTC 0.448000 49 46 0 0 0.139131 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95514946 95514946 + RNA SNP C C T rs143937878 by1000genomes TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr2:95514946C>T ENST00000432432.2 - 0 711 NR_040113.1 p.R201Q(1) ACTACTGTACCGTCTCAGCCT 0.308000 3 79 0 0 0.014758 0 0 AATK 9625 broad.mit.edu 37 17 79095898 79095898 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr17:79095898G>A ENST00000326724.4 - 11 1862 c.1838C>T c.(1837-1839)tCg>tTg p.S613L AATK_ENST00000417379.1_Missense_Mutation_p.S510L NM_001080395.2 NP_001073864.2 Q6ZMQ8 LMTK1_HUMAN apoptosis-associated tyrosine kinase 613 integral to membrane|mitochondrion|perinuclear region of cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1) 21 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) GGGCCCCGCCGAGGGCGAGGG 0.731000 7 5 0 0 0.047766 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50657787 50657787 + Missense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr22:50657787C>G ENST00000248846.5 - 19 4518 c.4414G>C c.(4414-4416)Gtg>Ctg p.V1472L TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_Silent_p.L1491L Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1472 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) CTCAGCTGCACAGCAGTCTCA 0.682000 6 11 0 0 0.021553 0 0 MIA2 117153 broad.mit.edu 37 14 39721961 39721961 + Missense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr14:39721961C>G ENST00000280082.3 + 5 1776 c.1577C>G c.(1576-1578)tCt>tGt p.S526C RP11-407N17.3_ENST00000553728.1_Intron NM_054024.3 NP_473365.3 Q96PC5 MIA2_HUMAN melanoma inhibitory activity 2 526 extracellular region NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 31 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) GATATGGTCTCTAACATAGAG 0.343000 42 44 0 0 0.111260 0 0 SCN3A 6328 broad.mit.edu 37 2 165971968 165971968 + Missense_Mutation SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr2:165971968C>T ENST00000360093.3 - 19 4002 c.3511G>A c.(3511-3513)Gaa>Aaa p.E1171K SCN3A_ENST00000409101.3_Missense_Mutation_p.E1122K|SCN3A_ENST00000283254.7_Missense_Mutation_p.E1171K NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1171 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) TGTTTACCTTCAGTAAAACAA 0.393000 32 1 0 0 0.069456 0 0 TGFBR3 7049 broad.mit.edu 37 1 92193232 92193232 + Missense_Mutation SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:92193232C>T ENST00000212355.4 - 7 1334 c.869G>A c.(868-870)gGa>gAa p.G290E TGFBR3_ENST00000370399.2_Missense_Mutation_p.G290E|TGFBR3_ENST00000525962.1_Missense_Mutation_p.G290E NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 290 BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) TTTCAGGCTTCCCTTAACATC 0.333000 22 37 0 0 0.076483 0 0 CTAGE9 643854 broad.mit.edu 37 6 132030013 132030013 + Missense_Mutation SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr6:132030013C>T ENST00000314099.8 - 1 2193 c.2145G>A c.(2143-2145)atG>atA p.M715I ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron NM_001145659.1|NM_001278507.1 NP_001139131.1|NP_001265436.1 A4FU28 CTGE9_HUMAN CTAGE family, member 9 715 Pro-rich. integral to membrane endometrium(1)|lung(1) 2 GTCCTCTTCTCATGAATGGGC 0.532000 74 110 0 0 0.139131 0 0 RIMS2 9699 broad.mit.edu 37 8 105261738 105261738 + Missense_Mutation SNP G G T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr8:105261738G>T ENST00000507740.1 + 20 3291 c.3055G>T c.(3055-3057)Gac>Tac p.D1019Y RIMS2_ENST00000339750.2_Missense_Mutation_p.D141Y|RIMS2_ENST00000406091.3_Missense_Mutation_p.D1205Y|RIMS2_ENST00000436393.2_Missense_Mutation_p.D1223Y|RIMS2_ENST00000262231.10_Missense_Mutation_p.D1044Y NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1267 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AGGAATGATGGACAAAAAGGG 0.413000 HNSCC(12;0.0054) 27 32 5.61819e-17 5.93421e-17 0.108266 1 0 ZBED4 9889 broad.mit.edu 37 22 50279761 50279761 + Silent SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr22:50279761G>A ENST00000216268.5 + 2 2928 c.2451G>A c.(2449-2451)ctG>ctA p.L817L NM_014838.2 NP_055653.2 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity p.L817L(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) GGAAGACGCTGAACGAGGGGG 0.612000 13 15 0 0 0.132662 0 0 HIST1H3C 8352 broad.mit.edu 37 6 26045687 26045687 + Missense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr6:26045687C>G ENST00000540144.1 + 1 49 c.49C>G c.(49-51)Ccg>Gcg p.P17A NM_003531.2 NP_003522.1 P68431 H31_HUMAN histone cluster 1, H3c 17 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1) 8 CGGCAAAGCTCCGCGCAAGCA 0.582000 30 35 0 0 0.144211 0 0 SNAP25 6616 broad.mit.edu 37 20 10286796 10286796 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr20:10286796G>C ENST00000254976.2 + 8 783 c.572G>C c.(571-573)aGa>aCa p.R191T SNAP25-AS1_ENST00000421143.2_RNA|SNAP25_ENST00000304886.2_Missense_Mutation_p.R191T|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000495883.1_3'UTR NM_130811.2 NP_570824.1 P60880 SNP25_HUMAN synaptosomal-associated protein, 25kDa 191 t-SNARE coiled-coil homology 2. energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 18 Botulinum Toxin Type A(DB00083) AACAAAACCAGAATTGATGAG 0.488000 22 29 0 0 0.069288 0 0 LEPRE1 64175 broad.mit.edu 37 1 43212677 43212677 + Nonsense_Mutation SNP G G T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:43212677G>T ENST00000236040.4 - 14 2361 c.2321C>A c.(2320-2322)tCa>tAa p.S774* LEPRE1_ENST00000462474.1_Intron|LEPRE1_ENST00000397054.3_Intron|LEPRE1_ENST00000296388.5_Intron NM_001243246.1 NP_001230175.1 Q32P28 P3H1_HUMAN leucine proline-enriched proteoglycan (leprecan) 1 0 negative regulation of cell proliferation endoplasmic reticulum|proteinaceous extracellular matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3) 26 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) AAGGACAGCTGAAGTGGGGCC 0.572000 36 75 1.69901e-12 1.76697e-12 0.080422 1 0 ZNF14 7561 broad.mit.edu 37 19 19825281 19825281 + Missense_Mutation SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr19:19825281C>T ENST00000344099.3 - 2 157 c.19G>A c.(19-21)Gag>Aag p.E7K NM_021030.2 NP_066358.2 P17017 ZNF14_HUMAN zinc finger protein 14 7 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 Renal(1328;0.0474) GCCACATCCTCAAAGGAGACT 0.448000 26 32 0 0 0.099896 0 0 KMT2D 8085 broad.mit.edu 37 12 49431596 49431596 + Missense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr12:49431596C>G ENST00000301067.7 - 34 9542 c.9543G>C c.(9541-9543)gaG>gaC p.E3181D NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D AGGAGGCCTTCTCAGCTGTGT 0.622000 11 9 0 0 0.069234 0 0 EXOC3 11336 broad.mit.edu 37 5 464428 464428 + Silent SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr5:464428G>A ENST00000512944.1 + 10 1866 c.1677G>A c.(1675-1677)acG>acA p.T559T EXOC3_ENST00000315013.5_Silent_p.T559T NM_007277.4 NP_009208.2 O60645 EXOC3_HUMAN exocyst complex component 3 570 exocytosis|protein transport breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1) 23 Ovarian(839;0.0563) Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) AATTGATGACGAAGAAGTGGC 0.438000 26 30 0 0 0.091800 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96523140 96523140 + Missense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr2:96523140C>G ENST00000456556.1 - 62 4081 c.3997G>C c.(3997-3999)Gaa>Caa p.E1333Q ANKRD36C_ENST00000420871.2_Missense_Mutation_p.E584Q|ANKRD36C_ENST00000419039.2_Missense_Mutation_p.E360Q ankyrin repeat domain 36C breast(1)|endometrium(8)|kidney(5)|lung(4) 18 ACATCAGCTTCTATCCTATAT 0.348000 27 0 0 0 0.125774 0 0 ABCC3 8714 broad.mit.edu 37 17 48761319 48761319 + Missense_Mutation SNP G G A rs142763506 TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr17:48761319G>A ENST00000285238.8 + 28 4044 c.3964G>A c.(3964-3966)Gtg>Atg p.V1322M NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 1322 ABC transporter 2. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) GGTGGGGATCGTGGGCCGCAC 0.612000 25 40 0 0 0.116897 0 0 IL17RA 23765 broad.mit.edu 37 22 17589995 17589995 + Missense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr22:17589995C>G ENST00000319363.6 + 13 2019 c.1886C>G c.(1885-1887)tCc>tGc p.S629C NM_014339.5 NP_055154.3 Q96F46 I17RA_HUMAN interleukin 17 receptor A 629 fibroblast activation|positive regulation of interleukin-23 production integral to plasma membrane interleukin-17 receptor activity endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1) 30 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) GAGCCTGGCTCCCAGGCCTGC 0.697000 5 12 0 0 0.029380 0 0 NFX1 4799 broad.mit.edu 37 9 33294813 33294813 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr9:33294813G>C ENST00000379540.3 + 2 483 c.421G>C c.(421-423)Gag>Cag p.E141Q NFX1_ENST00000379521.4_Missense_Mutation_p.E141Q|NFX1_ENST00000318524.6_Missense_Mutation_p.E141Q NM_002504.4 NP_002495.2 Q12986 NFX1_HUMAN nuclear transcription factor, X-box binding 1 141 inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 LUSC - Lung squamous cell carcinoma(29;0.00506) GBM - Glioblastoma multiforme(74;0.224) GACCAGATCAGAGAGTGGGAC 0.483000 54 52 0 0 0.139131 0 0 STT3A 3703 broad.mit.edu 37 11 125481355 125481355 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr11:125481355G>A ENST00000392708.4 + 11 1309 c.1150G>A c.(1150-1152)Gat>Aat p.D384N STT3A_ENST00000529196.1_Missense_Mutation_p.D384N|STT3A_ENST00000531491.1_Missense_Mutation_p.D292N NM_001278503.1|NM_001278504.1|NM_152713.3 NP_001265432.1|NP_001265433.1|NP_689926.1 P46977 STT3A_HUMAN STT3A, subunit of the oligosaccharyltransferase complex (catalytic) 384 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 33 all_hematologic(175;0.228) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996) CAACCTGTCTGATGCCCGGAT 0.428000 79 99 0 0 0.139131 0 0 TINAGL1 64129 broad.mit.edu 37 1 32051391 32051391 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:32051391G>C ENST00000271064.7 + 10 1207 c.1131G>C c.(1129-1131)aaG>aaC p.K377N TINAGL1_ENST00000457433.2_Missense_Mutation_p.K346N|TINAGL1_ENST00000481165.1_3'UTR NM_001204415.1|NM_022164.2 NP_001191344.1|NP_071447.1 Q9GZM7 TINAL_HUMAN tubulointerstitial nephritis antigen-like 1 377 K -> E (in Ref. 8; BAB55403). endosome transport|immune response|proteolysis extracellular region cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1) 18 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145) TCCTATACAAGGGAGGCATCT 0.602000 34 11 0 0 0.074837 0 0 VWA7 80737 broad.mit.edu 37 6 31737819 31737819 + Missense_Mutation SNP C C G rs139629177 byFrequency TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr6:31737819C>G ENST00000375686.3 - 8 1396 c.1159G>C c.(1159-1161)Ggg>Cgg p.G387R VWA7_ENST00000447450.1_Missense_Mutation_p.G387R|VWA7_ENST00000375688.4_Missense_Mutation_p.G387R|VWA7_ENST00000467576.1_5'UTR NM_025258.2 NP_079534.2 Q9Y334 G7C_HUMAN von Willebrand factor A domain containing 7 387 extracellular region TCTCCACCCCCCAAGGCATGG 0.592000 26 31 0 0 0.099896 0 0 MR1 3140 broad.mit.edu 37 1 181021468 181021468 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:181021468G>C ENST00000367580.5 + 4 707 c.702G>C c.(700-702)atG>atC p.M234I MR1_ENST00000434571.2_Intron|MR1_ENST00000282990.6_Intron|MR1_ENST00000367579.3_Missense_Mutation_p.M189I|MR1_ENST00000438435.2_Intron NM_001531.2 NP_001522.1 Q95460 HMR1_HUMAN major histocompatibility complex, class I-related 234 Alpha-3.|Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|immune response endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex MHC class I receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 18 AAATTTACATGACATGGATGA 0.458000 32 34 0 0 0.059317 0 0 MT1E 4493 broad.mit.edu 37 16 56660452 56660452 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr16:56660452G>A ENST00000330439.6 + 2 157 c.103G>A c.(103-105)Ggg>Agg p.G35R MT1E_ENST00000568293.1_Intron|MT1E_ENST00000306061.6_Intron P04732 MT1E_HUMAN metallothionein 1E 0 Alpha. cytoplasm cadmium ion binding|copper ion binding|zinc ion binding GAGTGAGTGCGGGGCCATCTC 0.592000 27 41 0 0 0.050027 0 0 HINFP 25988 broad.mit.edu 37 11 119003250 119003250 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr11:119003250G>C ENST00000350777.2 + 6 784 c.721G>C c.(721-723)Gag>Cag p.E241Q HINFP_ENST00000527410.1_Missense_Mutation_p.E241Q NM_001243259.1|NM_015517.4|NM_198971.2 NP_001230188.1|NP_056332.2|NP_945322.1 Q9BQA5 HINFP_HUMAN histone H4 transcription factor 241 DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 ATTTGCCACAGAGCGGCTATT 0.587000 59 64 0 0 0.139131 0 0 THSD7B 80731 broad.mit.edu 37 2 138414689 138414689 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr2:138414689G>A ENST00000409968.1 + 24 4512 c.4334G>A c.(4333-4335)cGa>cAa p.R1445Q THSD7B_ENST00000413152.2_Missense_Mutation_p.R1417Q|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1448Q|THSD7B_ENST00000543459.1_Missense_Mutation_p.E280K thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AATAACGAACGAACTGTATGG 0.413000 25 2 0 0 0.108266 0 0 ATG14 22863 broad.mit.edu 37 14 55857644 55857644 + Missense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr14:55857644C>G ENST00000247178.5 - 4 429 c.394G>C c.(394-396)Gaa>Caa p.E132Q NM_014924.4 NP_055739.2 Q6ZNE5 BAKOR_HUMAN autophagy related 14 132 autophagic vacuole assembly|positive regulation of autophagy autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2) 13 TCCATTTCTTCATTTCCTTTA 0.343000 2 15 0 0 0.115264 0 0 TUBGCP2 10844 broad.mit.edu 37 10 135107159 135107159 + Missense_Mutation SNP C C A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr10:135107159C>A ENST00000368563.2 - 6 1087 c.731G>T c.(730-732)cGg>cTg p.R244L TUBGCP2_ENST00000543663.1_Missense_Mutation_p.R272L|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.R244L|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.R114L NM_001256617.1|NM_006659.3 NP_001243546.1|NP_006650.1 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 244 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 35 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) GAGGAAGGTCCGGCTCTGCCT 0.677000 3 5 0.004672 0.00471384 0.115264 1 0 LRRIQ1 84125 broad.mit.edu 37 12 85439894 85439894 + Missense_Mutation SNP A A G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr12:85439894A>G ENST00000393217.2 + 5 494 c.433A>G c.(433-435)Atg>Gtg p.M145V NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 145 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) TGACTTGCCTATGGATGAACA 0.318000 29 58 0 0 0.125774 0 0 ACE2 59272 broad.mit.edu 37 X 15588451 15588451 + Silent SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chrX:15588451C>T ENST00000427411.1 - 15 2079 c.1863G>A c.(1861-1863)agG>agA p.R621R ACE2_ENST00000252519.3_Silent_p.R621R NM_021804.2 NP_068576.1 Q9BYF1 ACE2_HUMAN angiotensin I converting enzyme 2 621 angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 32 Hepatocellular(33;0.183) Moexipril(DB00691) TTAGGCTTATCCTCACTTTGA 0.388000 32 0 0 0 0.144211 0 0 FBL 2091 broad.mit.edu 37 19 40331067 40331067 + Silent SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr19:40331067C>T ENST00000221801.3 - 3 383 c.270G>A c.(268-270)ccG>ccA p.P90P NM_001436.3 NP_001427.2 P22087 FBRL_HUMAN fibrillarin 90 rRNA processing|tRNA processing box C/D snoRNP complex|Cajal body methyltransferase activity|protein binding|RNA binding endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1) 9 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Renal(1328;0.000518)|Hepatocellular(1079;0.0893) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138) CATGCCGATGCGGCTCCACCA 0.622000 5 286 0 0 0.021553 0 0 SYNE2 23224 broad.mit.edu 37 14 64514862 64514862 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr14:64514862G>C ENST00000358025.3 + 46 7596 c.7366G>C c.(7366-7368)Gaa>Caa p.E2456Q SYNE2_ENST00000554584.1_Missense_Mutation_p.E2489Q|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.E2456Q NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2456 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TGAACAATTAGAAGAGATAGA 0.323000 10 15 0 0 0.080935 0 0 GLCE 26035 broad.mit.edu 37 15 69560600 69560600 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr15:69560600G>C ENST00000261858.2 + 5 1099 c.871G>C c.(871-873)Gat>Cat p.D291H GLCE_ENST00000559500.1_3'UTR|GLCE_ENST00000559420.2_Missense_Mutation_p.D227H NM_015554.1 NP_056369.1 O94923 GLCE_HUMAN glucuronic acid epimerase 291 heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process Golgi membrane|integral to membrane UDP-glucuronate 5'-epimerase activity NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 18 AAACACAAAAGATTTTATTAT 0.363000 23 1 0 0 0.083992 0 0 ZNF41 7592 broad.mit.edu 37 X 47308245 47308245 + Silent SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chrX:47308245G>A ENST00000377065.4 - 5 1563 c.924C>T c.(922-924)ttC>ttT p.F308F ZNF41_ENST00000313116.7_Silent_p.F308F|ZNF41_ENST00000397050.2_Silent_p.F318F NM_153380.2 NP_700359.1 P51814 ZNF41_HUMAN zinc finger protein 41 350 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2) 24 all_lung(315;0.000129) GTTTCTGGGGGAAGACTTTGT 0.423000 64 3 0 0 0.139131 0 0 ZNF606 80095 broad.mit.edu 37 19 58511212 58511212 + Silent SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr19:58511212C>T ENST00000341164.4 - 4 761 c.141G>A c.(139-141)ggG>ggA p.G47G ZNF606_ENST00000547121.1_Silent_p.G47G|ZNF606_ENST00000552579.1_Intron|ZNF606_ENST00000547828.1_Silent_p.G47G|ZNF606_ENST00000536132.1_Intron NM_025027.3 NP_079303.2 Q8WXB4 ZN606_HUMAN zinc finger protein 606 47 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) TGGCCCTCCTCCCCTCCTCCA 0.597000 36 46 0 0 0.086207 0 0 KMT2D 8085 broad.mit.edu 37 12 49432123 49432123 + Missense_Mutation SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr12:49432123C>T ENST00000301067.7 - 34 9015 c.9016G>A c.(9016-9018)Gat>Aat p.D3006N NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D AGCTCTTCATCATCCTCTAGG 0.567000 27 32 0 0 0.099896 0 0 CLCN1 1180 broad.mit.edu 37 7 143036680 143036680 + Missense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr7:143036680C>G ENST00000343257.2 + 14 1635 c.1548C>G c.(1546-1548)atC>atG p.I516M NM_000083.2 NP_000074 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 516 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) ATGACATCATCTACAAGATCC 0.433000 20 33 0 0 0.049695 0 0 OPN3 23596 broad.mit.edu 37 1 241767757 241767757 + Silent SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:241767757C>T ENST00000366554.2 - 2 604 c.498G>A c.(496-498)ctG>ctA p.L166L OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_5'UTR NM_014322.2 NP_055137.2 Q9H1Y3 OPN3_HUMAN opsin 3 166 phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception integral to plasma membrane G-protein coupled photoreceptor activity endometrium(1)|large_intestine(5)|lung(5) 11 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) CTGCCCACGCCAGTGAGTAGA 0.552000 23 26 0 0 0.091800 0 0 GTF3C1 2975 broad.mit.edu 37 16 27544611 27544611 + Splice_Site SNP C C A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr16:27544611C>A ENST00000356183.4 - 5 865 c.e5+1 GTF3C1_ENST00000561623.1_Splice_Site NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 CCCAGGCTCACCAGCTCTTCC 0.552000 21 33 1.50039e-11 1.54613e-11 0.062417 1 0 ZIC1 7545 broad.mit.edu 37 3 147128051 147128051 + Missense_Mutation SNP C C A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr3:147128051C>A ENST00000282928.4 + 1 881 c.152C>A c.(151-153)cCc>cAc p.P51H NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 51 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 AAGCTCAACCCCAGTTCGCAC 0.726000 11 26 1.05317e-09 1.07544e-09 0.119110 1 0 SETD6 79918 broad.mit.edu 37 16 58550749 58550749 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr16:58550749G>C ENST00000394266.4 + 6 558 c.502G>C c.(502-504)Gag>Cag p.E168Q SETD6_ENST00000310682.2_Missense_Mutation_p.E213Q|SETD6_ENST00000418480.1_3'UTR|SETD6_ENST00000219315.4_Missense_Mutation_p.E237Q Q8TBK2 SETD6_HUMAN SET domain containing 6 237 SET. negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response nucleus NF-kappaB binding|protein-lysine N-methyltransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 7 GGATGAAAAGGAGCCCAACTC 0.522000 68 105 0 0 0.139131 0 0 ZKSCAN4 387032 broad.mit.edu 37 6 28219623 28219623 + Missense_Mutation SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr6:28219623C>T ENST00000377294.2 - 1 379 c.136G>A c.(136-138)Gct>Act p.A46T ZKSCAN4_ENST00000423974.2_Intron NM_019110.3 NP_061983.2 Q969J2 ZKSC4_HUMAN zinc finger with KRAB and SCAN domains 4 46 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A46T(1) endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 GGGCCCCGAGCAGGGCTGCAG 0.711000 37 38 0 0 0.064281 0 0 EHF 26298 broad.mit.edu 37 11 34680084 34680084 + Silent SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr11:34680084G>C ENST00000257831.3 + 8 733 c.612G>C c.(610-612)ccG>ccC p.P204P EHF_ENST00000533754.1_Silent_p.P204P|EHF_ENST00000531794.1_Silent_p.P226P|EHF_ENST00000450654.2_Silent_p.P181P|EHF_ENST00000530286.1_Silent_p.P204P NM_012153.5 NP_036285.2 Q9NZC4 EHF_HUMAN ets homologous factor 204 cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P204P(1) NFIA/EHF(2) autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1) 17 all_hematologic(20;0.117) Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235) CATCAGACCCGAGAGGGACTC 0.468000 37 39 0 0 0.092188 0 0 GJA5 2702 broad.mit.edu 37 1 147230969 147230969 + Silent SNP C C T rs112980895 TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:147230969C>T ENST00000271348.2 - 2 539 c.378G>A c.(376-378)ccG>ccA p.P126P GJA5_ENST00000369237.1_Silent_p.P126P NM_005266.5 NP_005257.2 P36382 CXA5_HUMAN gap junction protein, alpha 5, 40kDa 126 angiogenesis|cell-cell junction assembly|muscle contraction integral to membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 20 all_hematologic(923;0.0276) LUSC - Lung squamous cell carcinoma(543;0.202) TCTCTGCCACCGGGTACTCGT 0.612000 5 124 0 0 0.014758 0 0 WDFY3 23001 broad.mit.edu 37 4 85672638 85672638 + Missense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr4:85672638C>G ENST00000322366.6 - 36 6378 c.5971G>C c.(5971-5973)Gag>Cag p.E1991Q WDFY3_ENST00000295888.4_Missense_Mutation_p.E1991Q Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 1991 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TTCTTTACCTCCAACAAAAGA 0.348000 32 35 0 0 0.144211 0 0 LY9 4063 broad.mit.edu 37 1 160784451 160784451 + Silent SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:160784451C>T ENST00000368037.5 + 4 1086 c.972C>T c.(970-972)atC>atT p.I324I LY9_ENST00000341032.4_Silent_p.I324I|LY9_ENST00000392203.4_Silent_p.I324I|LY9_ENST00000368041.2_Silent_p.I284I|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000263285.6_Silent_p.I324I NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 Ig-like V-type 2. cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CCCTGAAGATCAGCCAGCTGA 0.562000 17 24 0 0 0.146539 0 0 TTC23L 153657 broad.mit.edu 37 5 34850409 34850409 + Silent SNP G G T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr5:34850409G>T ENST00000505624.1 + 4 478 c.375G>T c.(373-375)ctG>ctT p.L125L TTC23L_ENST00000514080.1_3'UTR NM_144725.3 NP_653326.3 Q6PF05 TT23L_HUMAN tetratricopeptide repeat domain 23-like 125 binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1) 22 ACTTGACACTGAGAGGTACTT 0.527000 47 62 2.13384e-23 2.29693e-23 0.139131 1 0 GAS2L1 10634 broad.mit.edu 37 22 29704254 29704254 + Silent SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr22:29704254G>C ENST00000471961.1 + 1 1207 c.159G>C c.(157-159)ctG>ctC p.L53L GAS2L1_ENST00000341313.6_Silent_p.L53L|GAS2L1_ENST00000407854.1_Silent_p.L53L|GAS2L1_ENST00000403764.1_Silent_p.L53L|GAS2L1_ENST00000360113.2_Silent_p.L53L|GAS2L1_ENST00000406549.3_Silent_p.L53L|GAS2L1_ENST00000407647.2_Silent_p.L53L Q99501 GA2L1_HUMAN growth arrest-specific 2 like 1 53 CH. cell cycle arrest cytoplasm|cytoskeleton endometrium(2)|lung(2)|prostate(1) 5 ATGGCTTCCTGACAGGGCTGG 0.692000 10 15 0 0 0.069234 0 0 PCDHB1 29930 broad.mit.edu 37 5 140433468 140433468 + Missense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr5:140433468C>G ENST00000306549.3 + 1 2490 c.2413C>G c.(2413-2415)Cag>Gag p.Q805E NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 805 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAATAAGTCTCAGAGATTAGA 0.438000 30 59 0 0 0.125774 0 0 BRAF 673 broad.mit.edu 37 7 140534445 140534445 + Silent SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr7:140534445G>A ENST00000288602.6 - 3 528 c.468C>T c.(466-468)atC>atT p.I156I NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 156 RBD. activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) AGACTCTAACGATAGGTTTTT 0.423000 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 42 41 0 0 0.124865 0 0 LIMA1 51474 broad.mit.edu 37 12 50642451 50642451 + Missense_Mutation SNP C C A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr12:50642451C>A ENST00000341247.4 - 2 233 c.84G>T c.(82-84)aaG>aaT p.K28N LIMA1_ENST00000394943.3_Missense_Mutation_p.K28N NM_001113546.1|NM_016357.4 NP_001107018.1|NP_057441.1 Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 28 actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2) 44 ATGACTTGTTCTTGTTGACAA 0.443000 53 60 6.34439e-16 6.68039e-16 0.139131 1 0 PAN2 9924 broad.mit.edu 37 12 56721370 56721370 + Missense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr12:56721370C>G ENST00000425394.2 - 6 1073 c.697G>C c.(697-699)Gat>Cat p.D233H PAN2_ENST00000440411.3_Missense_Mutation_p.D233H|PAN2_ENST00000548043.1_Missense_Mutation_p.D233H|PAN2_ENST00000257931.5_Missense_Mutation_p.D233H NM_001127460.2 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 233 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 GAGAAGGCATCAAACTCATGT 0.473000 39 36 0 0 0.117977 0 0 C2CD2 25966 broad.mit.edu 37 21 43309389 43309389 + Silent SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr21:43309389G>C ENST00000380486.3 - 14 2176 c.1935C>G c.(1933-1935)ggC>ggG p.G645G C2CD2_ENST00000329623.7_Silent_p.G490G NM_015500.1 NP_056315.1 Q9Y426 CU025_HUMAN C2 calcium-dependent domain containing 2 645 cytosol|extracellular region|nucleus endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1) 15 ACTGACTCATGCCTGGGTCTT 0.557000 21 29 0 0 0.069288 0 0 HIST1H2BM 8342 broad.mit.edu 37 6 27783043 27783043 + Silent SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr6:27783043C>T ENST00000359465.4 + 1 222 c.222C>T c.(220-222)atC>atT p.I74I NM_003521.2 NP_003512.1 Q99879 H2B1M_HUMAN histone cluster 1, H2bm 74 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2) 12 TTGAGCGTATCGCCGGAGAAG 0.572000 46 57 0 0 0.131918 0 0 NUDT8 254552 broad.mit.edu 37 11 67397191 67397191 + Silent SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr11:67397191G>C ENST00000301490.4 - 1 210 c.192C>G c.(190-192)gtC>gtG p.V64V NUDT8_ENST00000376693.2_Silent_p.V64V NM_181843.2 NP_862826.1 Q8WV74 NUDT8_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 8 64 Nudix hydrolase. mitochondrion hydrolase activity|metal ion binding endometrium(1)|lung(1)|prostate(1)|skin(1) 4 CGCTGTACCTGACGTCGCCCT 0.721000 2 6 0 0 0.115264 0 0 CHML 1122 broad.mit.edu 37 1 241798632 241798632 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:241798632G>A ENST00000366553.1 - 1 600 c.437C>T c.(436-438)tCg>tTg p.S146L OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron NM_001821.3 NP_001812.2 P26374 RAE2_HUMAN choroideremia-like (Rab escort protein 2) 146 intracellular protein transport|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1) 26 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) ATTAAAATACGATAACTGGCT 0.403000 76 101 0 0 0.139131 0 0 GPR85 54329 broad.mit.edu 37 7 112724516 112724516 + Nonsense_Mutation SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr7:112724516C>T ENST00000297146.3 - 3 864 c.261G>A c.(259-261)tgG>tgA p.W87* GPR85_ENST00000424100.1_Nonsense_Mutation_p.W87*|GPR85_ENST00000449591.1_Nonsense_Mutation_p.W87*|GPR85_ENST00000501255.2_Nonsense_Mutation_p.W87* NM_001146266.1 NP_001139738.1 P60893 GPR85_HUMAN G protein-coupled receptor 85 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 17 TCCCATAAGTCCAGGTAGAAC 0.428000 25 42 0 0 0.099896 0 0 GSTM2 2946 broad.mit.edu 37 1 110211575 110211575 + Silent SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:110211575G>A ENST00000369831.2 + 3 235 c.141G>A c.(139-141)ctG>ctA p.L47L GSTM2_ENST00000369829.2_Silent_p.L47L|GSTM2_ENST00000414179.2_5'UTR|GSTM2_ENST00000442650.1_Silent_p.L47L|GSTM2_ENST00000464206.1_3'UTR|GSTM2_ENST00000460717.3_Silent_p.L47L|GSTM2_ENST00000369827.3_Silent_p.L45L|GSTM2_ENST00000241337.4_Silent_p.L47L glutathione S-transferase mu 2 (muscle) kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2) 11 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227) GCCAGTGGCTGAATGAAAAAT 0.547000 33 28 0 0 0.139131 0 0 RCCD1 91433 broad.mit.edu 37 15 91504898 91504898 + Missense_Mutation SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr15:91504898C>T ENST00000394258.2 + 8 1232 c.1030C>T c.(1030-1032)Cgc>Tgc p.R344C RCCD1_ENST00000555155.1_Missense_Mutation_p.R342C|RCCD1_ENST00000556618.1_Missense_Mutation_p.R344C NM_001017919.1|NM_033544.2 NP_001017919.1|NP_291022.2 A6NED2 RCCD1_HUMAN RCC1 domain containing 1 344 p.R344C(1) breast(1)|kidney(1)|large_intestine(2) 4 Lung NSC(78;0.0987)|all_lung(78;0.175) Lung(145;0.189) GGATCGGCCTCGCCGTGTGGA 0.532000 40 1 0 0 0.080422 0 0 PROX2 283571 broad.mit.edu 37 14 75329988 75329988 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr14:75329988G>A ENST00000556084.2 - 1 549 c.550C>T c.(550-552)Cgc>Tgc p.R184C PROX2_ENST00000445876.1_Missense_Mutation_p.R184C|PROX2_ENST00000556489.2_Missense_Mutation_p.R184C NM_001080408.2 NP_001073877.2 Q3B8N5 PROX2_HUMAN prospero homeobox 2 184 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(1)|large_intestine(2)|lung(3) 6 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) ACCCAGGGGCGAGGCCCACAG 0.617000 27 35 0 0 0.108266 0 0 BDP1 55814 broad.mit.edu 37 5 70754468 70754468 + Nonsense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr5:70754468C>G ENST00000358731.4 + 2 538 c.275C>G c.(274-276)tCa>tGa p.S92* BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 92 Interaction with ZBTB43.|Ser-rich. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TCTACTGTTTCACAGAGAAGA 0.373000 57 60 0 0 0.139131 0 0 COL17A1 1308 broad.mit.edu 37 10 105831838 105831838 + Splice_Site SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr10:105831838C>G ENST00000353479.5 - 8 706 c.e8-1 COL17A1_ENST00000369733.3_Splice_Site|COL17A1_ENST00000393211.3_Splice_Site NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) ATTTCACTCTCTGTACAAGGG 0.498000 23 38 0 0 0.076483 0 0 KCTD7 154881 broad.mit.edu 37 7 66264377 66264377 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr7:66264377G>C ENST00000380828.2 + 9 1070 c.916G>C c.(916-918)Gat>Cat p.D306H RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000439720.2_Missense_Mutation_p.D279H|KCTD7_ENST00000451741.2_Missense_Mutation_p.D266H|KCTD7_ENST00000510829.2_Missense_Mutation_p.D266H|RABGEF1_ENST00000284957.5_Missense_Mutation_p.D266H|RABGEF1_ENST00000437078.2_Missense_Mutation_p.D280H|RABGEF1_ENST00000450873.2_Missense_Mutation_p.D266H Q96MP8 KCTD7_HUMAN potassium channel tetramerization domain containing 7 243 voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1) 16 AGAAGTGTCTGATATGGTGGT 0.433000 27 28 0 0 0.144211 0 0 ZNF836 162962 broad.mit.edu 37 19 52659499 52659499 + Silent SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr19:52659499G>A ENST00000322146.8 - 5 1958 c.1437C>T c.(1435-1437)ttC>ttT p.F479F ZNF836_ENST00000597252.1_Silent_p.F479F|CTC-471J1.8_ENST00000594362.1_RNA NM_001102657.1 NP_001096127.1 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 479 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.F479F(2) endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 AAGTCTGACTGAAGACCTTGC 0.428000 50 52 0 0 0.139131 0 0 ZNF335 63925 broad.mit.edu 37 20 44578480 44578480 + Missense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr20:44578480C>G ENST00000322927.2 - 24 3728 c.3628G>C c.(3628-3630)Gat>Cat p.D1210H ZNF335_ENST00000426788.1_Missense_Mutation_p.D1055H NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 1210 Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) GTCTGGCCATCTGCCGTGGTG 0.582000 31 38 0 0 0.054565 0 0 HSPA2 3306 broad.mit.edu 37 14 65009011 65009011 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr14:65009011G>A ENST00000247207.6 + 1 1826 c.1444G>A c.(1444-1446)Gac>Aac p.D482N HSPA2_ENST00000394709.1_Missense_Mutation_p.D482N NM_021979.3 NP_068814.2 P54652 HSP72_HUMAN heat shock 70kDa protein 2 482 response to unfolded protein|spermatid development cell surface ATP binding|unfolded protein binding breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045) GGTTACCTTCGACATTGACGC 0.557000 36 28 0 0 0.074837 0 0 SH3GLB2 56904 broad.mit.edu 37 9 131777141 131777141 + Missense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr9:131777141C>G ENST00000372564.3 - 4 522 c.377G>C c.(376-378)gGa>gCa p.G126A SH3GLB2_ENST00000417224.1_Missense_Mutation_p.G126A|SH3GLB2_ENST00000416629.1_Missense_Mutation_p.G126A|SH3GLB2_ENST00000372559.1_Missense_Mutation_p.G126A|SH3GLB2_ENST00000372554.4_Missense_Mutation_p.G126A NM_020145.2 NP_064530.1 Q9NR46 SHLB2_HUMAN SH3-domain GRB2-like endophilin B2 126 BAR. filopodium assembly|signal transduction cytoplasm|nucleus cytoskeletal adaptor activity|SH3 domain binding NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1) 12 CTCCGCGGCTCCCAGTTGCTT 0.552000 63 3 0 0 0.139131 0 0 SCNN1A 6337 broad.mit.edu 37 12 6472772 6472772 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr12:6472772G>A ENST00000358945.3 - 2 961 c.521C>T c.(520-522)tCc>tTc p.S174F SCNN1A_ENST00000540037.1_5'UTR|SCNN1A_ENST00000228916.2_Missense_Mutation_p.S174F|SCNN1A_ENST00000360168.3_Missense_Mutation_p.S233F|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000396966.2_Missense_Mutation_p.S174F|SCNN1A_ENST00000543768.1_Missense_Mutation_p.S197F P37088 SCNNA_HUMAN sodium channel, non-voltage-gated 1 alpha subunit 174 excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 Amiloride(DB00594)|Triamterene(DB00384) ACGGCTGCGGGAGCCGGCCAC 0.672000 7 9 0 0 0.058154 0 0 SMOX 54498 broad.mit.edu 37 20 4163462 4163462 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr20:4163462G>A ENST00000305958.4 + 5 1561 c.1336G>A c.(1336-1338)Gag>Aag p.E446K SMOX_ENST00000339123.6_Missense_Mutation_p.E393K|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000379460.2_Missense_Mutation_p.E446K|SMOX_ENST00000278795.3_Missense_Mutation_p.E393K NM_175839.2 NP_787033.1 Q9NWM0 SMOX_HUMAN spermine oxidase 446 polyamine biosynthetic process|xenobiotic metabolic process cytosol|nucleus polyamine oxidase activity breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1) 26 Spermine(DB00127) GGCAGTGGCCGAGATCTGCAC 0.652000 27 32 0 0 0.125774 0 0 JADE1 79960 broad.mit.edu 37 4 129778584 129778584 + Missense_Mutation SNP A A G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr4:129778584A>G ENST00000226319.6 + 8 1236 c.956A>G c.(955-957)aAt>aGt p.N319S PHF17_ENST00000452328.2_Missense_Mutation_p.N307S|PHF17_ENST00000413543.2_Missense_Mutation_p.N319S|PHF17_ENST00000511647.1_Missense_Mutation_p.N319S|PHF17_ENST00000512960.1_Missense_Mutation_p.N319S NM_199320.2 NP_955352.1 Q6IE81 JADE1_HUMAN 319 apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 AGCCTCTGCAATGAGAAGTTT 0.537000 106 7 0 0 0.139131 0 0 SERPINI2 5276 broad.mit.edu 37 3 167167184 167167184 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr3:167167184G>A ENST00000476257.1 - 8 1269 c.971C>T c.(970-972)tCt>tTt p.S324F SERPINI2_ENST00000461846.1_Missense_Mutation_p.S324F|SERPINI2_ENST00000264677.4_Missense_Mutation_p.S324F|SERPINI2_ENST00000471111.1_Missense_Mutation_p.S324F O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), member 2 324 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 ATACACTTCAGATGAATCTGG 0.303000 9 16 0 0 0.047766 0 0 GPRIN3 285513 broad.mit.edu 37 4 90170164 90170164 + Silent SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr4:90170164C>T ENST00000609438.1 - 2 1616 c.1098G>A c.(1096-1098)ggG>ggA p.G366G GPRIN3_ENST00000333209.4_Silent_p.G366G NM_198281.2 NP_938022.2 Q6ZVF9 GRIN3_HUMAN GPRIN family member 3 breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) GTGTGTGGCTCCCACTGCTGT 0.582000 35 61 0 0 0.054565 0 0 EXD3 54932 broad.mit.edu 37 9 140250738 140250738 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr9:140250738G>A ENST00000340951.4 - 8 934 c.739C>T c.(739-741)Cgg>Tgg p.R247W EXD3_ENST00000342129.4_5'UTR NM_017820.3 NP_060290.3 Q8N9H8 MUT7_HUMAN exonuclease 3'-5' domain containing 3 247 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2) 12 ACGCCGTACCGCTCCTGCAGA 0.662000 4 0 0 0 0.014758 0 0 ZNF337 26152 broad.mit.edu 37 20 25657348 25657348 + Missense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr20:25657348C>G ENST00000376436.1 - 4 1115 c.576G>C c.(574-576)aaG>aaC p.K192N RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.K160N|ZNF337_ENST00000252979.5_Missense_Mutation_p.K192N zinc finger protein 337 breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TTACCATCATCTTCCGGCTGA 0.433000 77 68 0 0 0.139131 0 0 SYBU 55638 broad.mit.edu 37 8 110598367 110598367 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr8:110598367G>A ENST00000399066.3 - 3 1170 c.443C>T c.(442-444)tCg>tTg p.S148L SYBU_ENST00000424158.2_Missense_Mutation_p.S156L|SYBU_ENST00000529690.1_Missense_Mutation_p.S21L|SYBU_ENST00000422135.1_Missense_Mutation_p.S151L|SYBU_ENST00000533895.1_Missense_Mutation_p.S150L|SYBU_ENST00000440310.1_Missense_Mutation_p.S151L|SYBU_ENST00000408889.3_Missense_Mutation_p.S32L|SYBU_ENST00000433638.1_Missense_Mutation_p.S151L|SYBU_ENST00000533171.1_Missense_Mutation_p.S151L|SYBU_ENST00000528331.1_Missense_Mutation_p.S32L|SYBU_ENST00000528647.1_Missense_Mutation_p.S150L|SYBU_ENST00000533065.1_Missense_Mutation_p.S32L|SYBU_ENST00000419099.1_Missense_Mutation_p.S150L|SYBU_ENST00000276646.9_Missense_Mutation_p.S151L|SYBU_ENST00000532779.1_Missense_Mutation_p.S83L|SYBU_ENST00000408908.2_Missense_Mutation_p.S151L|SYBU_ENST00000446070.2_Missense_Mutation_p.S150L NM_001099756.1 NP_001093226.1 Q9NX95 SYBU_HUMAN syntabulin (syntaxin-interacting) 151 Ser-rich.|Sufficient for interaction with KIF5B. cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 TGTGCTGCTCGAGGAGCTAAA 0.527000 15 12 0 0 0.033300 0 0 KCNK1 3775 broad.mit.edu 37 1 233750079 233750079 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:233750079G>C ENST00000366621.3 + 1 330 c.162G>C c.(160-162)caG>caC p.Q54H NM_002245.3 NP_002236.1 O00180 KCNK1_HUMAN potassium channel, subfamily K, member 1 54 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) TGCTGCGCCAGGAGCTGCGCA 0.637000 3 11 0 0 0.038147 0 0 TRPS1 7227 broad.mit.edu 37 8 116617033 116617033 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr8:116617033G>A ENST00000395715.3 - 4 1740 c.1163C>T c.(1162-1164)tCa>tTa p.S388L TRPS1_ENST00000220888.5_Missense_Mutation_p.S375L|TRPS1_ENST00000519674.1_Missense_Mutation_p.S375L|TRPS1_ENST00000519076.1_Missense_Mutation_p.S329L|TRPS1_ENST00000520276.1_Missense_Mutation_p.S379L NM_001282902.1|NM_001282903.1|NM_014112.2 NP_001269831.1|NP_001269832.1|NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 375 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) GTTTTTCTCTGAAGGTTTTGC 0.428000 Langer-Giedion syndrome 33 31 0 0 0.050027 0 0 KCNG2 26251 broad.mit.edu 37 18 77623955 77623955 + Silent SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr18:77623955G>A ENST00000316249.3 + 1 288 c.288G>A c.(286-288)ccG>ccA p.P96P NM_012283.1 NP_036415.1 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, member 2 96 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) TGCGGGGCCCGTGCGCGCTGG 0.736000 17 5 0 0 0.043863 0 0 INPP5F 22876 broad.mit.edu 37 10 121586170 121586170 + Silent SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr10:121586170C>T ENST00000361976.2 + 20 2443 c.2277C>T c.(2275-2277)atC>atT p.I759I INPP5F_ENST00000369080.3_Silent_p.I149I NM_014937.3 NP_055752.1 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 759 phosphoric ester hydrolase activity breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) ACGAAGACATCATTGGTATCA 0.353000 47 61 0 0 0.139131 0 0 TAS1R3 83756 broad.mit.edu 37 1 1267196 1267196 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:1267196G>C ENST00000339381.5 + 2 402 c.370G>C c.(370-372)Gac>Cac p.D124H NM_152228.1 NP_689414 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 124 detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) AGGCAGCCGCGACATCGCCGC 0.647000 21 66 0 0 0.091800 0 0 NBAS 51594 broad.mit.edu 37 2 15493688 15493688 + Silent SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr2:15493688G>A ENST00000281513.5 - 34 4103 c.4078C>T c.(4078-4080)Ctg>Ttg p.L1360L NBAS_ENST00000441750.1_Silent_p.L1240L NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 1360 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 TCTGTCTGCAGAGAGCTGCTA 0.458000 52 3 0 0 0.139131 0 0 NPR2 4882 broad.mit.edu 37 9 35801716 35801716 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr9:35801716G>A ENST00000342694.2 + 8 1768 c.1513G>A c.(1513-1515)Gag>Aag p.E505K NM_003995.3 NP_003986.2 P20594 ANPRB_HUMAN natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) 505 intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) TGGCAACTCAGAGCGTTATCA 0.537000 50 52 0 0 0.139131 0 0 PRR12 57479 broad.mit.edu 37 19 50097789 50097789 + Nonsense_Mutation SNP C C A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr19:50097789C>A ENST00000418929.2 + 3 290 c.278C>A c.(277-279)tCg>tAg p.S93* NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 494 Pro-rich. DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) AACCTTATCTCGGCCCTGGAA 0.677000 46 49 1.48734e-19 1.58088e-19 0.131918 1 0 NUDT7 283927 broad.mit.edu 37 16 77759476 77759476 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr16:77759476G>C ENST00000268533.5 + 2 253 c.184G>C c.(184-186)Gag>Cag p.E62Q NUDT7_ENST00000564085.1_Missense_Mutation_p.E62Q|NUDT7_ENST00000563839.1_Intron|NUDT7_ENST00000568787.1_Missense_Mutation_p.E62Q|NUDT7_ENST00000437314.3_Missense_Mutation_p.E62Q NM_001105663.2 NP_001099133.1 P0C024 NUDT7_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 7 62 Nudix hydrolase. nucleoside diphosphate metabolic process peroxisome hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1) 18 CGTCCGGTCAGAGAAGGTAGG 0.428000 19 26 0 0 0.055883 0 0 PROX1 5629 broad.mit.edu 37 1 214170364 214170364 + Silent SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:214170364G>A ENST00000366958.4 + 2 1094 c.486G>A c.(484-486)ctG>ctA p.L162L PROX1_ENST00000261454.4_Silent_p.L162L|PROX1_ENST00000498508.2_Silent_p.L162L|PROX1_ENST00000435016.1_Silent_p.L162L NM_001270616.1 NP_001257545.1 Q92786 PROX1_HUMAN prospero homeobox 1 162 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) ATGAGCACCTGAGAGCAAAGC 0.522000 44 54 0 0 0.131918 0 0 C6orf25 80739 broad.mit.edu 37 6 31692755 31692755 + Silent SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr6:31692755C>T ENST00000375809.3 + 6 660 c.649C>T c.(649-651)Cta>Tta p.L217L C6orf25_ENST00000375810.4_3'UTR|C6orf25_ENST00000375805.2_Silent_p.L186L NM_025260.3|NM_138272.2|NM_138277.2 NP_079536.2|NP_612116.1|NP_612121.1 O95866 G6B_HUMAN chromosome 6 open reading frame 25 0 endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane heparin binding|receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 9 AGAGCCTGCTCTATGCGGATC 0.547000 28 43 0 0 0.099896 0 0 EMC7 56851 broad.mit.edu 37 15 34382588 34382588 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr15:34382588G>C ENST00000256545.4 - 3 533 c.425C>G c.(424-426)tCt>tGt p.S142C NM_020154.2 NP_064539.1 ER membrane protein complex subunit 7 TGGACCTGAAGATTTCATTTG 0.393000 30 2 0 0 0.125774 0 0 FAM135A 57579 broad.mit.edu 37 6 71191811 71191811 + Silent SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr6:71191811C>T ENST00000418814.2 + 10 1391 c.777C>T c.(775-777)ttC>ttT p.F259F FAM135A_ENST00000361499.3_Silent_p.F259F|FAM135A_ENST00000370479.3_Silent_p.F216F|FAM135A_ENST00000457062.2_Silent_p.F216F|FAM135A_ENST00000505868.1_Silent_p.F259F|FAM135A_ENST00000505769.1_Silent_p.F259F NM_001105531.2|NM_001162529.1 NP_001099001.1|NP_001156001.1 Q9P2D6 F135A_HUMAN family with sequence similarity 135, member A 259 breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 ACAGCTACTTCATTACAGTAA 0.398000 30 42 0 0 0.134883 0 0 LRRC41 10489 broad.mit.edu 37 1 46744561 46744561 + Silent SNP G G A rs145793278 byFrequency TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:46744561G>A ENST00000343304.6 - 10 2700 c.2415C>T c.(2413-2415)ttC>ttT p.F805F LRRC41_ENST00000472710.1_5'UTR NM_006369.4 NP_006360.3 Q15345 LRC41_HUMAN leucine rich repeat containing 41 805 breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) CATAATCTGCGAAGGCCTGGG 0.607000 91 43 0 0 0.139131 0 0 HIVEP3 59269 broad.mit.edu 37 1 42048914 42048914 + Missense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:42048914C>G ENST00000372584.1 - 3 2569 c.1555G>C c.(1555-1557)Gaa>Caa p.E519Q HIVEP3_ENST00000429157.2_Missense_Mutation_p.E519Q|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E519Q|HIVEP3_ENST00000372583.1_Missense_Mutation_p.E519Q NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 519 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) AGTGATTGTTCAGGCTTGGTT 0.617000 52 128 0 0 0.139131 0 0 TAS2R39 259285 broad.mit.edu 37 7 142880769 142880769 + Silent SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr7:142880769C>G ENST00000446620.1 + 1 258 c.258C>G c.(256-258)ctC>ctG p.L86L NM_176881.2 NP_795362.2 P59534 T2R39_HUMAN taste receptor, type 2, member 39 86 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 Melanoma(164;0.059) GAATAGCTCTCCAAAGCCTCA 0.383000 62 62 0 0 0.139131 0 0 DNAH17 8632 broad.mit.edu 37 17 76562780 76562780 + Silent SNP G G T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr17:76562780G>T ENST00000389840.5 - 11 1609 c.1485C>A c.(1483-1485)atC>atA p.I495I DNAH17_ENST00000585328.1_Silent_p.I495I dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CTTGGATTTTGATCTCAAAAT 0.463000 6 11 2.0095e-06 2.04581e-06 0.029380 1 0 ARID4A 5926 broad.mit.edu 37 14 58827650 58827650 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr14:58827650G>C ENST00000355431.3 + 19 2343 c.1970G>C c.(1969-1971)aGa>aCa p.R657T ARID4A_ENST00000395168.3_Missense_Mutation_p.R657T|ARID4A_ENST00000431317.2_Missense_Mutation_p.R657T|ARID4A_ENST00000348476.3_Missense_Mutation_p.R657T NM_002892.3 NP_002883.3 P29374 ARI4A_HUMAN AT rich interactive domain 4A (RBP1-like) 657 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 GACGAAAAGAGAGATGAGGAG 0.403000 48 45 0 0 0.139131 0 0 TTN 7273 broad.mit.edu 37 2 179412227 179412227 + Missense_Mutation SNP A A G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr2:179412227A>G ENST00000589042.1 - 339 94350 c.94126T>C c.(94126-94128)Tac>Cac p.Y31376H TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y22436H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Y22311H|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y22503H|TTN_ENST00000591111.1_Missense_Mutation_p.Y29735H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y28808H NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29735 Fibronectin type-III 129. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TATTCCATGTATTTTGTGAGA 0.393000 12 0 0 0 0.080935 0 0 PTPRO 5800 broad.mit.edu 37 12 15656841 15656841 + Splice_Site SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr12:15656841G>C ENST00000281171.4 + 6 1435 c.e6-1 PTPRO_ENST00000543886.1_Splice_Site|PTPRO_ENST00000348962.2_Splice_Site NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) ATATGATTTAGAGAACTTTAC 0.333000 6 19 0 0 0.029380 0 0 DNAH11 8701 broad.mit.edu 37 7 21856103 21856103 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr7:21856103G>A ENST00000328843.6 + 65 10403 c.10372G>A c.(10372-10374)Gaa>Aaa p.E3458K DNAH11_ENST00000409508.3_Missense_Mutation_p.E3451K Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3458 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TCCACTAACCGAAGGCCTGGA 0.448000 Kartagener syndrome 14 9 0 0 0.119110 0 0 CCDC144CP 348254 broad.mit.edu 37 17 20239313 20239313 + RNA SNP G G T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr17:20239313G>T ENST00000340196.4 + 0 737 ATGGACACTGGGGTTGTACTT 0.423000 86 83 2.3666e-43 2.57206e-43 0.139131 1 0 DCAF12 25853 broad.mit.edu 37 9 34088357 34088357 + Silent SNP G G T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr9:34088357G>T ENST00000361264.4 - 9 1694 c.1353C>A c.(1351-1353)ctC>ctA p.L451L RP11-537H15.3_ENST00000448245.1_RNA NM_015397.3 NP_056212.1 Q5T6F0 DCA12_HUMAN DDB1 and CUL4 associated factor 12 451 centrosome|CUL4 RING ubiquitin ligase complex breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 11 ATTAACTCCAGAGCCCAGCAT 0.453000 60 92 3.37043e-27 3.63963e-27 0.139131 1 0 ING3 54556 broad.mit.edu 37 7 120591274 120591274 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr7:120591274G>A ENST00000315870.5 + 2 233 c.85G>A c.(85-87)Gac>Aac p.D29N ING3_ENST00000339121.5_Missense_Mutation_p.D29N|ING3_ENST00000445699.1_Missense_Mutation_p.D29N|ING3_ENST00000431467.1_Missense_Mutation_p.D14N NM_019071.2 NP_061944.2 Q9NXR8 ING3_HUMAN inhibitor of growth family, member 3 29 histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex zinc ion binding NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 12 all_neural(327;0.117) GCGCGAGATGGACCTGCAGGT 0.592000 69 58 0 0 0.139131 0 0 SH2D4A 63898 broad.mit.edu 37 8 19190596 19190596 + Silent SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr8:19190596G>C ENST00000265807.3 + 3 723 c.312G>C c.(310-312)ctG>ctC p.L104L SH2D4A_ENST00000519207.1_Silent_p.L104L|SH2D4A_ENST00000518040.1_Silent_p.L59L NM_001174160.1|NM_022071.3 NP_001167631.1|NP_071354.2 Q9H788 SH24A_HUMAN SH2 domain containing 4A 104 cytoplasm|nucleus protein binding endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1) 16 Colorectal(111;0.0732) GGGCCCGGCTGAAAGCAGAAC 0.468000 18 33 0 0 0.049695 0 0 RGPD3 653489 broad.mit.edu 37 2 107040707 107040707 + Missense_Mutation SNP T T A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr2:107040707T>A ENST00000409886.3 - 20 3803 c.3716A>T c.(3715-3717)aAt>aTt p.N1239I RGPD3_ENST00000304514.7_Missense_Mutation_p.N1239I NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1239 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 GTTTTCAGCATTGGGTTTTAT 0.418000 162 11 0 0 0.139131 0 0 GRIK4 2900 broad.mit.edu 37 11 120744829 120744829 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr11:120744829G>A ENST00000527524.2 + 10 1248 c.961G>A c.(961-963)Gaa>Aaa p.E321K RP11-640N11.2_ENST00000505153.2_RNA|GRIK4_ENST00000438375.2_Missense_Mutation_p.E321K NM_001282470.1 NP_001269399.1 Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 321 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) TGCGGTGCAGGAACTGAACCG 0.632000 18 24 0 0 0.049695 0 0 PEG3 5178 broad.mit.edu 37 19 57326977 57326977 + Missense_Mutation SNP T T C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr19:57326977T>C ENST00000326441.9 - 10 3196 c.2833A>G c.(2833-2835)Agg>Ggg p.R945G ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R821G|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R945G|PEG3_ENST00000593695.1_Missense_Mutation_p.R819G NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 945 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TCATTGCTCCTATGCTCAATG 0.463000 3 160 0 0 0.115264 0 0 SLC26A1 10861 broad.mit.edu 37 4 973208 973208 + Missense_Mutation SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr4:973208C>T ENST00000398520.2 - 3 763 c.661G>A c.(661-663)Gaa>Aaa p.E221K NM_134425.1 NP_602297.1 Q9H2B4 S26A1_HUMAN solute carrier family 26 (anion exchanger), member 1 0 integral to membrane|plasma membrane secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(23;0.0158) caagatctttcctcctcttcc 0.517000 10 13 0 0 0.058154 0 0 TMEM213 155006 broad.mit.edu 37 7 138487791 138487791 + Nonsense_Mutation SNP G G T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr7:138487791G>T ENST00000442682.2 + 3 454 c.301G>T c.(301-303)Gag>Tag p.E101* TMEM213_ENST00000422794.2_Nonsense_Mutation_p.E151*|TMEM213_ENST00000397602.3_Nonsense_Mutation_p.E100*|TMEM213_ENST00000458494.1_Nonsense_Mutation_p.E77*|TMEM213_ENST00000413208.1_Intron NM_001085429.1 NP_001078898.1 A2RRL7 TM213_HUMAN transmembrane protein 213 101 integral to membrane breast(1)|endometrium(3)|kidney(1)|lung(1) 6 GACTCCAGATGAGCCCAAGGA 0.562000 17 17 6.49762e-13 6.77838e-13 0.038395 1 0 TNN 63923 broad.mit.edu 37 1 175067473 175067473 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:175067473G>C ENST00000239462.4 + 9 1974 c.1861G>C c.(1861-1863)Gac>Cac p.D621H NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 621 Fibronectin type-III 5. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) TCCAGATATTGACAGCCCCAA 0.498000 82 88 0 0 0.139131 0 0 NLRP14 338323 broad.mit.edu 37 11 7063621 7063621 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr11:7063621G>A ENST00000299481.4 + 4 710 c.364G>A c.(364-366)Gat>Aat p.D122N NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 122 cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) TGACTTAGGTGATGGAACAGA 0.338000 25 36 0 0 0.091800 0 0 GPR162 27239 broad.mit.edu 37 12 6935995 6935995 + Missense_Mutation SNP G G A rs72270259 TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr12:6935995G>A ENST00000311268.3 + 5 2180 c.1393G>A c.(1393-1395)Gag>Aag p.E465K GPR162_ENST00000382315.3_Missense_Mutation_p.E161K|GPR162_ENST00000428545.2_Missense_Mutation_p.E181K NM_019858.1 NP_062832.1 Q16538 GP162_HUMAN G protein-coupled receptor 162 465 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1) 18 GTTGGAGGACGAGGAGGACGA 0.652000 48 61 0 0 0.139131 0 0 PLA2G3 50487 broad.mit.edu 37 22 31536026 31536026 + Silent SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr22:31536026C>T ENST00000215885.3 - 1 567 c.315G>A c.(313-315)caG>caA p.Q105Q NM_015715.3 NP_056530.2 Q9NZ20 PA2G3_HUMAN phospholipase A2, group III 105 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 18 CCAGTGCTCTCTGCAGCTCGG 0.647000 28 26 0 0 0.108266 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39912864 39912864 + Missense_Mutation SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr19:39912864C>T ENST00000425673.1 + 15 1851 c.1526C>T c.(1525-1527)tCt>tTt p.S509F PLEKHG2_ENST00000409797.2_Missense_Mutation_p.S538F|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.S538F|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.S479F|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.S538F Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 538 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) CTGGACCCCTCTGGGACCTCA 0.587000 13 15 0 0 0.093190 0 0 FAM184A 79632 broad.mit.edu 37 6 119324104 119324104 + Missense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr6:119324104C>G ENST00000338891.7 - 9 2491 c.2048G>C c.(2047-2049)aGa>aCa p.R683T FAM184A_ENST00000368475.4_Missense_Mutation_p.R563T|FAM184A_ENST00000521531.1_Missense_Mutation_p.R683T|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.R563T NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A 683 breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 CCATGAATCTCTTGCTGCATT 0.378000 29 65 0 0 0.116897 0 0 OR4D11 219986 broad.mit.edu 37 11 59271954 59271954 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr11:59271954G>C ENST00000313253.1 + 1 906 c.906G>C c.(904-906)aaG>aaC p.K302N NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 GAAGACTGAAGAGAAGACTCG 0.532000 21 27 0 0 0.055883 0 0 RRH 10692 broad.mit.edu 37 4 110756555 110756555 + Missense_Mutation SNP G G T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr4:110756555G>T ENST00000317735.4 + 3 365 c.331G>T c.(331-333)Gca>Tca p.A111S NM_006583.2 NP_006574.1 O14718 OPSX_HUMAN retinal pigment epithelium-derived rhodopsin homolog 111 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 12 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00109) TTTTGGAATGGCAAGCATTGG 0.398000 32 2 2.47316e-13 2.58801e-13 0.059317 1 0 SYT12 91683 broad.mit.edu 37 11 66812099 66812099 + Silent SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr11:66812099C>T ENST00000393946.2 + 9 2035 c.873C>T c.(871-873)ctC>ctT p.L291L SYT12_ENST00000525457.1_Silent_p.L291L|SYT12_ENST00000527043.1_Silent_p.L291L Q8IV01 SYT12_HUMAN synaptotagmin XII 291 C2 2. cell junction|integral to membrane|synaptic vesicle membrane NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 20 TGCTCTCCCTCAGCTACCTCC 0.652000 45 39 0 0 0.139131 0 0 CORIN 10699 broad.mit.edu 37 4 47645189 47645189 + Nonsense_Mutation SNP G G T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr4:47645189G>T ENST00000273857.4 - 15 2041 c.2042C>A c.(2041-2043)tCa>tAa p.S681* CORIN_ENST00000504584.1_Nonsense_Mutation_p.S644*|CORIN_ENST00000508498.1_Nonsense_Mutation_p.S542*|CORIN_ENST00000505909.1_Nonsense_Mutation_p.S644*|CORIN_ENST00000502252.1_Nonsense_Mutation_p.S614* NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 681 LDL-receptor class A 7. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 TGAACTGTCTGAGCAGTCGGC 0.493000 23 34 5.35356e-11 5.48334e-11 0.076483 1 0 POTEA 340441 broad.mit.edu 37 8 43197037 43197037 + RNA SNP T T C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr8:43197037T>C ENST00000522175.2 + 0 1067 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 AAAAGAAATCTAATGAAAAGA 0.214000 8 14 0 0 0.047766 0 0 HIST1H2AJ 8331 broad.mit.edu 37 6 27782430 27782430 + Missense_Mutation SNP C C A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr6:27782430C>A ENST00000333151.3 - 1 177 c.89G>T c.(88-90)cGa>cTa p.R30L NM_021066.2 NP_066544.1 Q99878 H2A1J_HUMAN histone cluster 1, H2aj 30 nucleosome assembly nucleosome|nucleus DNA binding p.R30Q(1) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2) 11 GCGATGCACTCGGCCTACGGG 0.652000 19 18 2.21704e-12 2.29864e-12 0.076483 1 0 TXNDC5 81567 broad.mit.edu 37 6 7883499 7883499 + Splice_Site SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr6:7883499C>T ENST00000539054.1 - 10 960 c.961G>A c.(961-963)Gta>Ata p.V321I TXNDC5_ENST00000379757.4_Splice_Site_p.V393I|TXNDC5_ENST00000473453.1_Splice_Site_p.V285I|BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR Q8NBS9 TXND5_HUMAN thioredoxin domain containing 5 (endoplasmic reticulum) Thioredoxin 3. anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport endoplasmic reticulum lumen|lysosomal lumen electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2) 22 Ovarian(93;0.0398) TAGCCTCGTACCTTAAAACAA 0.463000 30 36 0 0 0.144211 0 0 UTRN 7402 broad.mit.edu 37 6 144814560 144814560 + Silent SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr6:144814560C>T ENST00000367545.3 + 32 4561 c.4561C>T c.(4561-4563)Ctg>Ttg p.L1521L NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 1521 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GCTGACTTCCCTGAAGGTTCT 0.478000 31 43 0 0 0.045705 0 0 TRIM62 55223 broad.mit.edu 37 1 33646983 33646983 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:33646983G>C ENST00000291416.5 - 1 284 c.51C>G c.(49-51)atC>atG p.I17M TRIM62_ENST00000485148.1_5'UTR NM_018207.2 NP_060677.2 Q9BVG3 TRI62_HUMAN tripartite motif containing 62 17 intracellular zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0393) GGTCCTGGTAGATGCTCAGGC 0.711000 21 15 0 0 0.076483 0 0 CREBBP 1387 broad.mit.edu 37 16 3786706 3786706 + Nonsense_Mutation SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr16:3786706C>T ENST00000262367.5 - 27 5314 c.4505G>A c.(4504-4506)tGg>tAg p.W1502* CREBBP_ENST00000382070.3_Nonsense_Mutation_p.W1464* NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1502 Interaction with TRERF1. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) CTTTTTGTACCACTCCTGCAG 0.512000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 98 7 0 0 0.139131 0 0 SEPT5 5413 broad.mit.edu 37 22 19709787 19709787 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr22:19709787G>A ENST00000438754.2 + 10 1274 c.994G>A c.(994-996)Gag>Aag p.E332K SEPT5_ENST00000383045.3_Silent_p.E335E|SEPT5_ENST00000455784.2_Silent_p.E326E|SEPT5_ENST00000406395.1_Missense_Mutation_p.E323K NM_001009939.2 NP_001009939.1 Q99719 SEPT5_HUMAN septin 5 0 cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting plasma membrane|septin complex|synaptic vesicle GTP binding|GTPase activity|protein binding|structural molecule activity lung(1)|upper_aerodigestive_tract(1) 2 Colorectal(54;0.0993) GCCGCATGGAGAGCCCCATCC 0.716000 6 12 0 0 0.021553 0 0 TRAF3IP3 80342 broad.mit.edu 37 1 209936882 209936882 + Missense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:209936882C>G ENST00000367024.1 + 8 1168 c.652C>G c.(652-654)Ctc>Gtc p.L218V TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.L198V|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.L218V|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.L198V|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.L198V Q9Y228 T3JAM_HUMAN TRAF3 interacting protein 3 218 integral to membrane protein binding breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 OV - Ovarian serous cystadenocarcinoma(81;0.045) AATGGTGATTCTCCAAGACCT 0.498000 26 20 0 0 0.099896 0 0 PTEN 5728 broad.mit.edu 37 10 89717708 89717708 + Nonsense_Mutation SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr10:89717708C>T ENST00000371953.3 + 7 2090 c.733C>T c.(733-735)Cag>Tag p.Q245* PTEN_ENST00000472832.1_3'UTR NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 245 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.Q245*(8)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.F243fs*9(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TGAGTTCCCTCAGCCGTTACC 0.418000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 34 2 0 0 0.069456 0 0 ARID1A 8289 broad.mit.edu 37 1 27059264 27059264 + Nonsense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:27059264C>G ENST00000324856.7 + 4 2272 c.1901C>G c.(1900-1902)tCa>tGa p.S634* ARID1A_ENST00000374152.2_Nonsense_Mutation_p.S251*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.S634* NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 634 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) AGCCTTCAGTCAAGACCCTCC 0.483000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 55 2 0 0 0.139131 0 0 RECK 8434 broad.mit.edu 37 9 36112348 36112348 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr9:36112348G>C ENST00000377966.3 + 16 2501 c.1935G>C c.(1933-1935)caG>caC p.Q645H NM_021111.2 NP_066934.1 O95980 RECK_HUMAN reversion-inducing-cysteine-rich protein with kazal motifs 645 Kazal-like 1. anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) TATGTGGGCAGAATGGGCGCA 0.498000 24 29 0 0 0.076483 0 0 TMEM61 199964 broad.mit.edu 37 1 55452105 55452105 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:55452105G>C ENST00000371268.3 + 2 625 c.351G>C c.(349-351)gaG>gaC p.E117D RP11-12C17.2_ENST00000436960.1_RNA NM_182532.1 NP_872338.1 Q8N0U2 TMM61_HUMAN transmembrane protein 61 117 integral to membrane endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 4 AGTCCTCAGAGAAGGAGAGCT 0.627000 124 64 0 0 0.139131 0 0 CARM1 10498 broad.mit.edu 37 19 11018792 11018792 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr19:11018792G>A ENST00000327064.4 + 3 614 c.424G>A c.(424-426)Gag>Aag p.E142K CARM1_ENST00000344150.4_Missense_Mutation_p.E142K NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 142 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 CGAGCGGACGGAGGAGTCTTC 0.637000 47 66 0 0 0.139131 0 0 PAPLN 89932 broad.mit.edu 37 14 73712862 73712862 + Silent SNP C C A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr14:73712862C>A ENST00000427855.1 + 5 415 c.313C>A c.(313-315)Cgg>Agg p.R105R PAPLN_ENST00000555445.1_Silent_p.R105R|PAPLN_ENST00000340738.5_Silent_p.R105R|PAPLN_ENST00000554301.1_Silent_p.R105R|PAPLN_ENST00000381166.3_Silent_p.R105R O95428 PPN_HUMAN papilin, proteoglycan-like sulfated glycoprotein 105 proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) GCGGCGGTATCGGTGGCTGCC 0.667000 8 7 0.0381472 0.0382604 0.038147 1 0 DTX3L 151636 broad.mit.edu 37 3 122288708 122288708 + Missense_Mutation SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr3:122288708C>T ENST00000296161.4 + 3 1961 c.1772C>T c.(1771-1773)tCa>tTa p.S591L DTX3L_ENST00000383661.3_Intron NM_138287.3 NP_612144.1 Q8TDB6 DTX3L_HUMAN deltex 3-like (Drosophila) 591 histone monoubiquitination|response to DNA damage stimulus cytoplasm|nucleus histone binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0459) AAAGCCATGTCATATAAGCCA 0.433000 52 66 0 0 0.139131 0 0 SLC35F3 148641 broad.mit.edu 37 1 234452395 234452395 + Silent SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:234452395C>T ENST00000366618.3 + 5 1021 c.876C>T c.(874-876)taC>taT p.Y292Y SLC35F3_ENST00000366617.3_Silent_p.Y223Y NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 223 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) TGATGACCTACGCTGATGGCT 0.587000 145 158 0 0 0.139131 0 0 ARHGAP8 23779 broad.mit.edu 37 22 45241212 45241212 + Silent SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr22:45241212G>C ENST00000517296.3 + 13 1290 c.1290G>C c.(1288-1290)ctG>ctC p.L430L ARHGAP8_ENST00000336963.4_Silent_p.L220L|ARHGAP8_ENST00000356099.6_Silent_p.L220L|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.L351L|ARHGAP8_ENST00000389774.2_Silent_p.L251L|ARHGAP8_ENST00000389773.5_Silent_p.L342L|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.L430L Rho GTPase activating protein 8 breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7) 29 all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649) UCEC - Uterine corpus endometrioid carcinoma (28;0.0204) TGACGTACCTGAGAGAGAAAG 0.537000 34 45 0 0 0.050027 0 0 TNFRSF10C 8794 broad.mit.edu 37 8 22974541 22974541 + Silent SNP T T C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr8:22974541T>C ENST00000356864.3 + 5 1309 c.777T>C c.(775-777)gtT>gtC p.V259V TNFRSF10C_ENST00000540813.1_Silent_p.V157V NM_003841.3 NP_003832 O14798 TR10C_HUMAN tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain 259 apoptosis anchored to membrane|integral to plasma membrane TRAIL binding|transmembrane receptor activity endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 15 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) TTGTGTTTGTTTGAAAGACTT 0.522000 58 73 0 0 0.139131 0 0 MROH5 389690 broad.mit.edu 37 8 142446094 142446094 + RNA SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr8:142446094C>G ENST00000606664.1 + 0 1450 MROH5_ENST00000430863.1_RNA GCAGGCCGCTCAGCTCCCTGT 0.682000 25 25 0 0 0.076483 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140711156 140711156 + Nonsense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr5:140711156C>G ENST00000517417.1 + 1 905 c.905C>G c.(904-906)tCa>tGa p.S302* PCDHGA1_ENST00000378105.3_Nonsense_Mutation_p.S302* NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGAAATATCAAATAAAGAA 0.418000 18 25 0 0 0.038395 0 0 HELQ 113510 broad.mit.edu 37 4 84376714 84376714 + Nonsense_Mutation SNP C C A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr4:84376714C>A ENST00000295488.3 - 1 295 c.133G>T c.(133-135)Gaa>Taa p.E45* HELQ_ENST00000440639.2_5'UTR|HELQ_ENST00000510985.1_Nonsense_Mutation_p.E45* NM_133636.2 NP_598375 Q8TDG4 HELQ_HUMAN helicase, POLQ-like 45 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2) 38 GCCACCATTTCCTCCTCCTCT 0.602000 Other identified genes with known or suspected DNA repair function OREG0016254 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 87 96 3.37217e-29 3.65318e-29 0.139131 1 0 OR4K2 390431 broad.mit.edu 37 14 20344666 20344666 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr14:20344666G>C ENST00000298642.2 + 1 276 c.240G>C c.(238-240)aaG>aaC p.K80N NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 80 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.K80N(1) NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CCACCCCAAAGATGATTACAG 0.413000 61 180 0 0 0.139131 0 0 HSPG2 3339 broad.mit.edu 37 1 22186152 22186152 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:22186152G>C ENST00000374695.3 - 42 5279 c.5200C>G c.(5200-5202)Ccc>Gcc p.P1734A NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 1734 Ig-like C2-type 2. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) TGGACGCTGGGGAAGTGGAGC 0.582000 4 17 0 0 0.021553 0 0 ZNF615 284370 broad.mit.edu 37 19 52498067 52498067 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr19:52498067G>C ENST00000602063.1 - 6 611 c.262C>G c.(262-264)Ctg>Gtg p.L88V ZNF615_ENST00000376716.5_Missense_Mutation_p.L88V|ZNF615_ENST00000598071.1_Missense_Mutation_p.L99V|ZNF615_ENST00000594083.1_Missense_Mutation_p.L99V|ZNF615_ENST00000391795.3_Missense_Mutation_p.L93V Q8N8J6 ZN615_HUMAN zinc finger protein 615 88 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) TGATGCTGCAGAGGATCATCA 0.318000 26 27 0 0 0.108266 0 0 KDM6A 7403 broad.mit.edu 37 X 44922802 44922802 + Nonsense_Mutation SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chrX:44922802C>T ENST00000377967.4 + 16 1704 c.1663C>T c.(1663-1665)Cag>Tag p.Q555* KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q476*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q562*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q510* NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 555 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6)|p.0(2)|p.Q555*(2) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 TAGCGTCTCTCAGCCTGGAGT 0.567000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 25 0 0 0 0.091800 0 0 NPR2 4882 broad.mit.edu 37 9 35800738 35800738 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr9:35800738G>C ENST00000342694.2 + 6 1506 c.1251G>C c.(1249-1251)caG>caC p.Q417H NM_003995.3 NP_003986.2 P20594 ANPRB_HUMAN natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) 417 intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) CTGAGAAGCAGATTTGGTGGA 0.607000 22 25 0 0 0.062417 0 0 LRRC7 57554 broad.mit.edu 37 1 70484501 70484501 + Splice_Site SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:70484501G>A ENST00000310961.5 + 16 1739 c.1321G>A c.(1321-1323)Gat>Aat p.D441N LRRC7_ENST00000035383.5_Splice_Site_p.D436N|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_5'UTR Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 436 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 TGGTGATGAAGGTAAATTGTC 0.393000 19 23 0 0 0.055883 0 0 SETD6 79918 broad.mit.edu 37 16 58552697 58552697 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr16:58552697G>A ENST00000394266.4 + 9 1035 c.979G>A c.(979-981)Gaa>Aaa p.E327K SETD6_ENST00000310682.2_Missense_Mutation_p.E372K|SETD6_ENST00000219315.4_Missense_Mutation_p.E396K Q8TBK2 SETD6_HUMAN SET domain containing 6 396 negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response nucleus NF-kappaB binding|protein-lysine N-methyltransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 7 TGATAAAAGGGAAGAGGGCAG 0.478000 27 39 0 0 0.108266 0 0 ABCC5 10057 broad.mit.edu 37 3 183643381 183643381 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr3:183643381G>C ENST00000334444.6 - 29 4414 c.4174C>G c.(4174-4176)Cta>Gta p.L1392V ABCC5_ENST00000265586.6_Missense_Mutation_p.L1349V NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 1392 ABC transporter 2. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TCGGAGCCTAGAACCGTGTGC 0.547000 33 33 0 0 0.054565 0 0 BRCA1 672 broad.mit.edu 37 17 41243707 41243707 + Nonsense_Mutation SNP G G A rs80356866 TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr17:41243707G>A ENST00000309486.4 - 9 3980 c.2953C>T c.(2953-2955)Cag>Tag p.Q985* BRCA1_ENST00000354071.3_Nonsense_Mutation_p.Q1281*|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000357654.3_Nonsense_Mutation_p.Q1281*|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Nonsense_Mutation_p.Q1234*|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000346315.3_Nonsense_Mutation_p.Q1281*|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000471181.2_Nonsense_Mutation_p.Q1281* NM_007297.3 NP_009228.2 P38398 BRCA1_HUMAN breast cancer 1, early onset 1281 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) TGATGTTCCTGAGATGCCTTT 0.398000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 66 79 0 0 0.139131 0 0 SEPT8 23176 broad.mit.edu 37 5 132099510 132099510 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr5:132099510G>A ENST00000296873.7 - 4 705 c.422C>T c.(421-423)tCg>tTg p.S141L SEPT8_ENST00000378701.1_Missense_Mutation_p.S139L|SEPT8_ENST00000378721.4_Missense_Mutation_p.S139L|SEPT8_ENST00000378706.1_Missense_Mutation_p.S141L|SEPT8_ENST00000378719.2_Missense_Mutation_p.S141L|SEPT8_ENST00000458488.2_Missense_Mutation_p.S141L|SEPT8_ENST00000448933.1_Missense_Mutation_p.S81L|SEPT8_ENST00000378699.2_Missense_Mutation_p.S81L NM_001098812.1|NM_015146.1 NP_001092282.1|NP_055961.1 Q92599 SEPT8_HUMAN septin 8 141 cell cycle septin complex GTP binding|protein binding SEPT8/AFF4(2) kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1) 11 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GTCGAAGAGCGAGCGGCGGAT 0.507000 OREG0003468 type=REGULATORY REGION|Gene=LOC540614|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 88 93 0 0 0.139131 0 0 APOBEC3D 140564 broad.mit.edu 37 22 39428283 39428283 + Nonsense_Mutation SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr22:39428283C>T ENST00000216099.8 + 7 1530 c.1123C>T c.(1123-1125)Cga>Tga p.R375* APOBEC3D_ENST00000427494.2_Nonsense_Mutation_p.R191*|APOBEC3D_ENST00000381568.4_Nonsense_Mutation_p.R375* NM_152426.3 NP_689639.2 Q96AK3 ABC3D_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2) 11 Melanoma(58;0.04) AACCAACTTTCGACTTCTGAA 0.478000 57 64 0 0 0.139131 0 0 GAK 2580 broad.mit.edu 37 4 875823 875823 + Silent SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr4:875823C>G ENST00000314167.4 - 15 1643 c.1533G>C c.(1531-1533)ggG>ggC p.G511G GAK_ENST00000511163.1_Silent_p.G432G NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 511 Phosphatase tensin-type. cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) ACGCGGCTCTCCCGTCCTAGG 0.657000 8 3 0 0 0.038147 0 0 VSX2 338917 broad.mit.edu 37 14 74711893 74711893 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr14:74711893G>C ENST00000261980.2 + 3 571 c.481G>C c.(481-483)Gag>Cag p.E161Q NM_182894.2 NP_878314.1 P58304 VSX2_HUMAN visual system homeobox 2 161 multicellular organismal development|response to stimulus|visual perception nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 7 BRCA - Breast invasive adenocarcinoma(234;0.00154) CTACCAGCTAGAGGAGCTGGA 0.542000 21 24 0 0 0.055883 0 0 TAS1R3 83756 broad.mit.edu 37 1 1267862 1267862 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:1267862G>C ENST00000339381.5 + 3 983 c.951G>C c.(949-951)caG>caC p.Q317H NM_152228.1 NP_689414 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 317 detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) GCATGGCCCAGATGGGCACGG 0.667000 13 31 0 0 0.093190 0 0 MALAT1 378938 broad.mit.edu 37 11 65271750 65271750 + RNA SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr11:65271750G>A ENST00000534336.1 + 0 6518 NR_002819.2 GGAGGGATGGGAGGAGGGGGT 0.428000 16 13 0 0 0.033300 0 0 TLR8 51311 broad.mit.edu 37 X 12940174 12940174 + Silent SNP T T C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chrX:12940174T>C ENST00000218032.6 + 2 3102 c.3015T>C c.(3013-3015)ccT>ccC p.P1005P TLR8_ENST00000311912.5_Silent_p.P1023P NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 1005 TIR. cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TCCAGTGGCCTGACAACCCGA 0.443000 4 84 0 0 0.009096 0 0 UBXN1 51035 broad.mit.edu 37 11 62444039 62444039 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr11:62444039G>C ENST00000533000.1 - 4 298 c.298C>G c.(298-300)Ctg>Gtg p.L100V UBXN1_ENST00000294119.2_3'UTR|UBXN1_ENST00000301935.5_3'UTR|UBXN1_ENST00000529640.1_3'UTR Q04323 UBXN1_HUMAN UBX domain protein 1 0 Interaction with BRCA1. negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process cytoplasm ATPase binding|K6-linked polyubiquitin binding endometrium(5)|lung(12) 17 AGGGGTCACAGAGGGACAATG 0.493000 3 7 0 0 0.115264 0 0 NWD1 284434 broad.mit.edu 37 19 16918490 16918490 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr19:16918490G>A ENST00000524140.2 + 18 4248 c.3830G>A c.(3829-3831)gGg>gAg p.G1277E NWD1_ENST00000549814.1_Missense_Mutation_p.G1235E|NWD1_ENST00000523826.1_Missense_Mutation_p.G1071E|NWD1_ENST00000339803.6_Missense_Mutation_p.G1142E|NWD1_ENST00000379808.3_Missense_Mutation_p.G1277E|NWD1_ENST00000552788.1_Missense_Mutation_p.G1277E NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1277 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CTCGTGTCGGGGGTCGTCCTT 0.587000 46 36 0 0 0.124865 0 0 COL8A1 1295 broad.mit.edu 37 3 99513684 99513684 + Silent SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr3:99513684C>T ENST00000261037.3 + 5 1319 c.939C>T c.(937-939)ccC>ccT p.P313P COL8A1_ENST00000273342.4_Silent_p.P313P NM_001850.4 NP_001841.2 P27658 CO8A1_HUMAN collagen, type VIII, alpha 1 313 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 CTGGGATACCCGGAATTGGAA 0.662000 15 32 0 0 0.119110 0 0 MAP3K2 10746 broad.mit.edu 37 2 128079675 128079675 + Missense_Mutation SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr2:128079675C>T ENST00000409947.1 - 12 1274 c.992G>A c.(991-993)aGt>aAt p.S331N MAP3K2_ENST00000344908.5_Missense_Mutation_p.S331N Q9Y2U5 M3K2_HUMAN mitogen-activated protein kinase kinase kinase 2 331 activation of JUN kinase activity|cellular response to mechanical stimulus nucleus ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0706) GTCTATGTCACTTCCCCTTCT 0.423000 17 0 0 0 0.033300 0 0 SIGLEC7 27036 broad.mit.edu 37 19 51647699 51647699 + Missense_Mutation SNP C C A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr19:51647699C>A ENST00000317643.6 + 2 539 c.470C>A c.(469-471)aCc>aAc p.T157N SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron NM_014385.2 NP_055200.1 Q9Y286 SIGL7_HUMAN sialic acid binding Ig-like lectin 7 157 Ig-like C2-type 1. cell adhesion integral to plasma membrane receptor activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) ATCCCCGGTACCCTGGAGTCT 0.612000 90 119 1.59228e-47 1.7361e-47 0.139131 1 0 KLHL25 64410 broad.mit.edu 37 15 86311830 86311830 + Silent SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr15:86311830C>T ENST00000337975.5 - 2 1486 c.1212G>A c.(1210-1212)ccG>ccA p.P404P KLHL25_ENST00000536947.1_Silent_p.P404P|KLHL25_ENST00000559131.1_Intron NM_022480.3 NP_071925.2 Q9H0H3 ENC2_HUMAN kelch-like family member 25 404 cytoplasm breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 25 AAGGCGAGGCCGGGAAGACCC 0.622000 29 2 0 0 0.134883 0 0 NPR2 4882 broad.mit.edu 37 9 35802245 35802245 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr9:35802245G>C ENST00000342694.2 + 10 1930 c.1675G>C c.(1675-1677)Gag>Cag p.E559Q NM_003995.3 NP_003986.2 P20594 ANPRB_HUMAN natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) 559 Protein kinase. intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) GAAGCGCATTGAGCTGACCCG 0.433000 41 55 0 0 0.139131 0 0 AATK 9625 broad.mit.edu 37 17 79094710 79094710 + Nonsense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr17:79094710G>C ENST00000326724.4 - 11 3050 c.3026C>G c.(3025-3027)tCa>tGa p.S1009* AATK_ENST00000417379.1_Nonsense_Mutation_p.S906* NM_001080395.2 NP_001073864.2 Q6ZMQ8 LMTK1_HUMAN apoptosis-associated tyrosine kinase 1009 integral to membrane|mitochondrion|perinuclear region of cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1) 21 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) CTCTGGGCCTGAGGTGGCCTC 0.667000 6 8 0 0 0.021553 0 0 SEC63 11231 broad.mit.edu 37 6 108215079 108215079 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr6:108215079G>C ENST00000369002.4 - 15 1642 c.1463C>G c.(1462-1464)tCc>tGc p.S488C NM_007214.4 NP_009145.1 Q9UGP8 SEC63_HUMAN SEC63 homolog (S. cerevisiae) 488 SEC63 1. protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) AGCACAGATGGACTGCTCCTT 0.383000 38 36 0 0 0.104719 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119102036 119102036 + Missense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr3:119102036C>G ENST00000264245.4 + 6 1177 c.645C>G c.(643-645)atC>atG p.I215M NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 215 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity p.I215I(1) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 TAGATCAAATCTTTAACAACG 0.473000 34 41 0 0 0.045705 0 0 HMHA1 23526 broad.mit.edu 37 19 1082962 1082962 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr19:1082962G>A ENST00000313093.2 + 20 2872 c.2641G>A c.(2641-2643)Gag>Aag p.E881K HMHA1_ENST00000539243.2_Missense_Mutation_p.E897K|HMHA1_ENST00000591169.1_3'UTR|HMHA1_ENST00000543365.1_Missense_Mutation_p.E764K|HMHA1_ENST00000536472.1_Missense_Mutation_p.E749K|HMHA1_ENST00000586866.1_Missense_Mutation_p.E885K|HMHA1_ENST00000590577.1_Missense_Mutation_p.E516K|HMHA1_ENST00000590214.1_Missense_Mutation_p.E908K NM_012292.3 NP_036424.2 Q92619 HMHA1_HUMAN histocompatibility (minor) HA-1 881 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2) 16 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTCGGAGAGCGAGGCAGTGGC 0.726000 9 3 0 0 0.069234 0 0 POLQ 10721 broad.mit.edu 37 3 121200455 121200455 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr3:121200455G>C ENST00000264233.5 - 19 6303 c.6175C>G c.(6175-6177)Cag>Gag p.Q2059E NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 2059 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) GAGTTGAGCTGATTCATAGAG 0.418000 DNA polymerases (catalytic subunits) 34 30 0 0 0.050027 0 0 TNN 63923 broad.mit.edu 37 1 175067659 175067659 + Nonsense_Mutation SNP G G T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:175067659G>T ENST00000239462.4 + 9 2160 c.2047G>T c.(2047-2049)Gag>Tag p.E683* NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 683 Fibronectin type-III 5. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) ACCGGGTATGGAGTACATGGT 0.612000 34 42 4.3181e-19 4.57529e-19 0.054565 1 0 TTC39A 22996 broad.mit.edu 37 1 51768066 51768066 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:51768066G>C ENST00000262676.5 - 11 1110 c.950C>G c.(949-951)gCa>gGa p.A317G TTC39A_ENST00000447632.2_Missense_Mutation_p.A321G|TTC39A_ENST00000371747.3_Missense_Mutation_p.A320G|TTC39A_ENST00000262675.7_Missense_Mutation_p.A258G|TTC39A_ENST00000371750.5_Missense_Mutation_p.A286G|TTC39A_ENST00000413473.2_Missense_Mutation_p.A289G|TTC39A_ENST00000451380.1_Missense_Mutation_p.A285G Q5SRH9 TT39A_HUMAN tetratricopeptide repeat domain 39A 321 binding p.0?(2) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1) 17 AATCCTCCCTGCAAAGAACAG 0.597000 7 15 0 0 0.029380 0 0 KANK4 163782 broad.mit.edu 37 1 62703978 62703978 + Missense_Mutation SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:62703978C>T ENST00000371153.4 - 10 3337 c.2959G>A c.(2959-2961)Gcg>Acg p.A987T KANK4_ENST00000371150.1_Missense_Mutation_p.A343T|KANK4_ENST00000317477.4_Missense_Mutation_p.A125T|KANK4_ENST00000354381.3_Missense_Mutation_p.A359T NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 987 A -> V (in dbSNP:rs34591898). NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 CCCTGCTCCGCGTGGGCTCTC 0.577000 29 34 0 0 0.116897 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227203874 227203874 + Missense_Mutation SNP C C A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:227203874C>A ENST00000366769.3 - 33 5950 c.4659G>T c.(4657-4659)atG>atT p.M1553I CDC42BPA_ENST00000366766.2_Missense_Mutation_p.M1588I|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.M1566I|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.M1472I|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.M1525I|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.M1553I|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.M1533I NM_003607.3 NP_003598.2 Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 1566 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) ATTTATTTCTCATTTCTGGAT 0.338000 35 42 3.03874e-20 3.24004e-20 0.059317 1 0 GPR124 25960 broad.mit.edu 37 8 37693267 37693267 + Missense_Mutation SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr8:37693267C>T ENST00000412232.2 + 13 2042 c.2029C>T c.(2029-2031)Ccc>Tcc p.P677S GPR124_ENST00000315215.7_Intron NM_032777.9 NP_116166.9 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 677 central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) CGTGGCCACCCCCGTCATCTT 0.652000 18 45 0 0 0.038395 0 0 DGKK 139189 broad.mit.edu 37 X 50111901 50111901 + RNA SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chrX:50111901G>C ENST00000376025.2 - 0 3912 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) TTTTTTAGTAGAATTCTCAAT 0.398000 12 1 0 0 0.105934 0 0 INTS5 80789 broad.mit.edu 37 11 62415620 62415620 + Silent SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr11:62415620G>A ENST00000330574.2 - 2 1984 c.1932C>T c.(1930-1932)ctC>ctT p.L644L NM_030628.1 NP_085131.1 Q6P9B9 INT5_HUMAN integrator complex subunit 5 644 snRNA processing integral to membrane|integrator complex protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 36 CCAGTCCCAGGAGCTGGGAGG 0.602000 28 27 0 0 0.125774 0 0 GEMIN2 8487 broad.mit.edu 37 14 39583588 39583588 + Missense_Mutation SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr14:39583588C>T ENST00000308317.6 + 1 162 c.79C>T c.(79-81)Cgg>Tgg p.R27W GEMIN2_ENST00000250379.8_Missense_Mutation_p.R27W|GEMIN2_ENST00000396249.2_Missense_Mutation_p.R27W NM_003616.2 NP_003607.1 O14893 GEMI2_HUMAN gem (nuclear organelle) associated protein 2 27 ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly Cajal body|cytosol|spliceosomal complex protein binding GTTGATGCCTCGGCTATTGCC 0.602000 26 18 0 0 0.099896 0 0 EIF4G1 1981 broad.mit.edu 37 3 184037480 184037480 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr3:184037480G>A ENST00000342981.4 + 6 842 c.428G>A c.(427-429)gGc>gAc p.G143D EIF4G1_ENST00000350481.5_5'UTR|EIF4G1_ENST00000427845.1_Missense_Mutation_p.G56D|EIF4G1_ENST00000414031.1_Missense_Mutation_p.G103D|EIF4G1_ENST00000424196.1_Missense_Mutation_p.G150D|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.G56D|EIF4G1_ENST00000319274.6_Missense_Mutation_p.G143D|EIF4G1_ENST00000382330.3_Missense_Mutation_p.G150D|EIF4G1_ENST00000346169.2_Missense_Mutation_p.G143D|EIF4G1_ENST00000411531.1_Missense_Mutation_p.G103D|EIF4G1_ENST00000352767.3_Missense_Mutation_p.G150D NM_182917.4 NP_886553 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 143 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CCCCAAGCTGGCGCCTACTAT 0.607000 7 9 0 0 0.029380 0 0 USP15 9958 broad.mit.edu 37 12 62777719 62777719 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr12:62777719G>C ENST00000280377.5 + 10 1246 c.1188G>C c.(1186-1188)ttG>ttC p.L396F USP15_ENST00000393654.3_Missense_Mutation_p.L371F|USP15_ENST00000353364.3_Missense_Mutation_p.L367F NM_001252078.1 NP_001239007.1 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 396 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 37 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) ATGAGGATTTGAATAGAATTA 0.353000 24 37 0 0 0.069288 0 0 VPS33A 65082 broad.mit.edu 37 12 122748132 122748132 + Missense_Mutation SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr12:122748132C>T ENST00000267199.4 - 3 395 c.283G>A c.(283-285)Gaa>Aaa p.E95K VPS33A_ENST00000542310.1_5'UTR|RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.E95K|VPS33A_ENST00000451053.2_Missense_Mutation_p.E95K NM_022916.4 NP_075067.2 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33 homolog A (S. cerevisiae) 95 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 28 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) AGCACGTTTTCAGCGATTATA 0.383000 28 25 0 0 0.108266 0 0 CCDC88C 440193 broad.mit.edu 37 14 91779817 91779817 + Missense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr14:91779817C>G ENST00000389857.6 - 15 2429 c.2343G>C c.(2341-2343)aaG>aaC p.K781N NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 781 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) AGGTCTGCGTCTTGTGGCTGC 0.672000 24 17 0 0 0.099896 0 0 KCNK1 3775 broad.mit.edu 37 1 233750167 233750167 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:233750167G>A ENST00000366621.3 + 1 418 c.250G>A c.(250-252)Gag>Aag p.E84K NM_002245.3 NP_002236.1 O00180 KCNK1_HUMAN potassium channel, subfamily K, member 1 84 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) CCGGGTGCTGGAGGCCAGCAA 0.652000 9 17 0 0 0.047766 0 0 CCRL2 9034 broad.mit.edu 37 3 46450001 46450001 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr3:46450001G>C ENST00000399036.3 + 2 783 c.431G>C c.(430-432)aGg>aCg p.R144T CCRL2_ENST00000400882.2_Missense_Mutation_p.R144T|CCRL2_ENST00000357392.4_Missense_Mutation_p.R156T|CCRL2_ENST00000400880.3_Missense_Mutation_p.R144T NM_003965.4 NP_003956.2 O00421 CCRL2_HUMAN chemokine (C-C motif) receptor-like 2 chemotaxis|inflammatory response integral to plasma membrane CCR chemokine receptor binding|chemokine receptor activity lung(3)|ovary(1)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02) GCCAGGAGGAGGGTGCCCTGT 0.478000 44 3 0 0 0.111260 0 0 GABRA1 2554 broad.mit.edu 37 5 161322862 161322862 + Silent SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr5:161322862G>C ENST00000428797.2 + 10 1402 c.1047G>C c.(1045-1047)gtG>gtC p.V349V GABRA1_ENST00000023897.6_Silent_p.V349V|GABRA1_ENST00000420560.1_Silent_p.V349V|GABRA1_ENST00000437025.2_Silent_p.V349V|GABRA1_ENST00000393943.4_Silent_p.V349V|GABRA1_ENST00000444819.1_Silent_p.V349V NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 349 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) GCAAAAGTGTGGTTCCAGAAA 0.388000 32 26 0 0 0.050027 0 0 EP300 2033 broad.mit.edu 37 22 41566488 41566488 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr22:41566488G>C ENST00000263253.7 + 27 5584 c.4365G>C c.(4363-4365)caG>caC p.Q1455H RP1-85F18.6_ENST00000415054.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1455 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 CTCCTGACCAGAAGATACCCA 0.443000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 39 48 0 0 0.080422 0 0 RAB3A 5864 broad.mit.edu 37 19 18311166 18311166 + Silent SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr19:18311166G>A ENST00000222256.4 - 3 496 c.318C>T c.(316-318)aaC>aaT p.N106N RAB3A_ENST00000464076.3_Silent_p.N11N NM_002866.4 NP_002857.1 P20336 RAB3A_HUMAN RAB3A, member RAS oncogene family 106 glutamate secretion|protein transport|small GTPase mediated signal transduction clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle GTP binding|GTPase activity NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 8 AGGATTCCTCGTTGGTGATGT 0.502000 55 56 0 0 0.139131 0 0 LOX 4015 broad.mit.edu 37 5 121405766 121405766 + Nonsense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr5:121405766G>C ENST00000231004.4 - 6 1528 c.1229C>G c.(1228-1230)tCa>tGa p.S410* LOX_ENST00000513319.1_5'UTR|SRFBP1_ENST00000504881.1_Intron NM_001178102.1|NM_002317.5 NP_001171573.1|NP_002308.2 P28300 LYOX_HUMAN lysyl oxidase 410 Lysyl-oxidase like. protein modification process extracellular space copper ion binding|protein-lysine 6-oxidase activity endometrium(1)|lung(6)|prostate(1) 8 all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02) TGTGCAGCCTGAGGCATACGC 0.408000 47 67 0 0 0.124865 0 0 HTRA4 203100 broad.mit.edu 37 8 38831911 38831911 + Silent SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr8:38831911C>G ENST00000302495.4 + 1 229 c.129C>G c.(127-129)gtC>gtG p.V43V NM_153692.3 NP_710159.1 P83105 HTRA4_HUMAN HtrA serine peptidase 4 43 IGFBP N-terminal. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1) 11 all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955) LUSC - Lung squamous cell carcinoma(45;1.5e-07) GCCCCGCGGTCTGCCAGCCCA 0.746000 4 6 0 0 0.021553 0 0 OR51I2 390064 broad.mit.edu 37 11 5475265 5475265 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr11:5475265G>C ENST00000341449.2 + 1 628 c.547G>C c.(547-549)Gac>Cac p.D183H HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron NM_001004754.2 NP_001004754.1 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, member 2 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTGCACCCAGACATGATGAG 0.453000 52 62 0 0 0.139131 0 0 NACA 4666 broad.mit.edu 37 12 57110190 57110190 + Missense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr12:57110190C>G ENST00000454682.1 - 3 5405 c.5124G>C c.(5122-5124)aaG>aaC p.K1708N NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TAGCAGAACTCTTTTTGGTCT 0.522000 T BCL6 NHL 143 160 0 0 0.139131 0 0 PDPN 10630 broad.mit.edu 37 1 13910364 13910364 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:13910364G>A ENST00000294489.6 + 1 405 c.64G>A c.(64-66)Gaa>Aaa p.E22K PDPN_ENST00000376057.4_Missense_Mutation_p.E22K Q86YL7 PDPN_HUMAN podoplanin 0 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) TAGGGTCTGGGAAGCTCGGGC 0.682000 47 47 0 0 0.124865 0 0 NHLRC2 374354 broad.mit.edu 37 10 115664742 115664742 + Nonsense_Mutation SNP C C A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr10:115664742C>A ENST00000369301.3 + 10 2083 c.1871C>A c.(1870-1872)tCa>tAa p.S624* NM_198514.3 NP_940916.2 Q8NBF2 NHLC2_HUMAN NHL repeat containing 2 624 cell redox homeostasis breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 15 Epithelial(162;0.017)|all cancers(201;0.0187) GACCTCCCATCAGGATCAAAG 0.428000 35 43 6.2361e-21 6.67026e-21 0.098360 1 0 RPSAP58 388524 broad.mit.edu 37 19 24010594 24010594 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr19:24010594G>C ENST00000496398.1 + 4 1054 c.631G>C c.(631-633)Gaa>Caa p.E211Q RP11-255H23.4_ENST00000599944.1_lincRNA|RPSAP58_ENST00000354585.4_Missense_Mutation_p.E211Q|RP11-255H23.2_ENST00000471224.1_RNA endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1) 10 TGAAGAGATTGAAAAAGAAGA 0.532000 12 12 0 0 0.146539 0 0 PPAN 56342 broad.mit.edu 37 19 10224985 10224985 + Silent SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr19:10224985G>A ENST00000556468.1 + 13 1983 c.1956G>A c.(1954-1956)gtG>gtA p.V652V PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_Silent_p.V652V|P2RY11_ENST00000321826.4_Silent_p.V232V peter pan homolog (Drosophila) endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 15 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) GGCGGGCCGTGCTACGCAGCC 0.692000 41 49 0 0 0.086207 0 0 USP35 57558 broad.mit.edu 37 11 77921319 77921319 + Silent SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr11:77921319C>T ENST00000529308.1 + 10 2679 c.2418C>T c.(2416-2418)ctC>ctT p.L806L USP35_ENST00000526425.1_Silent_p.L537L|USP35_ENST00000530267.1_Silent_p.L374L|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000441408.2_Silent_p.L392L NM_020798.2 NP_065849.1 Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 806 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) ACCTCATCCTCACACTGCTGC 0.627000 50 64 0 0 0.139131 0 0 PLCL2 23228 broad.mit.edu 37 3 17051901 17051901 + Missense_Mutation SNP A A G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr3:17051901A>G ENST00000418129.2 + 2 1150 c.685A>G c.(685-687)Aaa>Gaa p.K229E PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000432376.1_Missense_Mutation_p.K229E|PLCL2_ENST00000396755.2_Missense_Mutation_p.K229E NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 355 PH. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 TTCAAGCAATAAAGAATTCCT 0.353000 22 19 0 0 0.055883 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54903724 54903724 + Silent SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr12:54903724C>T ENST00000293373.6 + 7 769 c.690C>T c.(688-690)ctC>ctT p.L230L NCKAP1L_ENST00000552211.1_3'UTR|NCKAP1L_ENST00000545638.2_Silent_p.L180L NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 230 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 TTCTAAGCCTCATCAGCAACC 0.522000 80 83 0 0 0.139131 0 0 NUTM2D 728130 broad.mit.edu 37 10 89127109 89127109 + Missense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr10:89127109C>G ENST00000412718.1 + 7 2200 c.1654C>G c.(1654-1656)Cca>Gca p.P552A NUT family member 2D TTCAGATGCTCCAGGGACTGA 0.622000 12 22 0 0 0.146539 0 0 COL5A3 50509 broad.mit.edu 37 19 10104307 10104307 + Missense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr19:10104307C>G ENST00000264828.3 - 18 1768 c.1683G>C c.(1681-1683)gaG>gaC p.E561D NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 561 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) TTTGGCCCTTCTCACCAGGCA 0.577000 31 36 0 0 0.054565 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29973573 29973573 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chrX:29973573G>C ENST00000378993.1 + 11 2400 c.1727G>C c.(1726-1728)aGt>aCt p.S576T IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.S576T NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 576 Interaction with NCS1. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 TTAGATGTCAGTGAGCAAGGG 0.498000 26 0 0 0 0.125774 0 0 HSPG2 3339 broad.mit.edu 37 1 22181905 22181905 + Silent SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:22181905C>T ENST00000374695.3 - 47 5968 c.5889G>A c.(5887-5889)gaG>gaA p.E1963E NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 1963 Ig-like C2-type 5. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CCTGGGTCCTCTCTGGGCTCA 0.692000 16 30 0 0 0.033300 0 0 NFATC3 4775 broad.mit.edu 37 16 68156357 68156357 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr16:68156357G>A ENST00000349223.5 + 2 795 c.571G>A c.(571-573)Gat>Aat p.D191N NFATC3_ENST00000346183.3_Missense_Mutation_p.D191N|NFATC3_ENST00000329524.4_Missense_Mutation_p.D191N|NFATC3_ENST00000575270.1_Missense_Mutation_p.D191N|NFATC3_ENST00000535127.2_3'UTR NM_173163.2 NP_775186.1 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 191 inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 44 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) TATTTATGATGATGTGGACTC 0.507000 39 41 0 0 0.080422 0 0 BSN 8927 broad.mit.edu 37 3 49695503 49695503 + Silent SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr3:49695503G>A ENST00000296452.4 + 5 8628 c.8514G>A c.(8512-8514)acG>acA p.T2838T NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 2838 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GCCAGCAGACGCTGCCTCGCC 0.617000 57 5 0 0 0.139131 0 0 CD28 940 broad.mit.edu 37 2 204594410 204594410 + Missense_Mutation SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr2:204594410C>T ENST00000324106.8 + 3 598 c.449C>T c.(448-450)tCt>tTt p.S150F CD28_ENST00000374478.4_Missense_Mutation_p.S31F|CD28_ENST00000458610.2_Missense_Mutation_p.S164F|CD28_ENST00000374481.3_Missense_Mutation_p.S66F NM_001243077.1|NM_006139.3 NP_001230006.1|NP_006130.1 P10747 CD28_HUMAN CD28 molecule cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction cytosol|external side of plasma membrane|integral to plasma membrane coreceptor activity|protease binding|SH3/SH2 adaptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 CCCGGACCTTCTAAGCCCTTT 0.443000 68 3 0 0 0.139131 0 0 MYO16 23026 broad.mit.edu 37 13 109707814 109707814 + Nonsense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr13:109707814C>G ENST00000356711.2 + 27 3266 c.3140C>G c.(3139-3141)tCa>tGa p.S1047* MYO16_ENST00000357550.2_Nonsense_Mutation_p.S1047*|MYO16_ENST00000457511.2_Nonsense_Mutation_p.S559* NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 1047 Myosin head-like 2. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CCCAATAACTCAAAGCTGCCA 0.403000 26 71 0 0 0.083992 0 0 EXOSC4 54512 broad.mit.edu 37 8 145135366 145135366 + Silent SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr8:145135366G>A ENST00000316052.5 + 3 703 c.600G>A c.(598-600)gaG>gaA p.E200E EXOSC4_ENST00000525936.1_3'UTR NM_019037.2 NP_061910.1 Q9NPD3 EXOS4_HUMAN exosome component 4 200 DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5'-exoribonuclease activity|AU-rich element binding|protein binding lung(4)|prostate(1)|upper_aerodigestive_tract(2) 7 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CGCTGCTTGAGATGGATGCCC 0.672000 47 51 0 0 0.139131 0 0 CNST 163882 broad.mit.edu 37 1 246810871 246810871 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:246810871G>C ENST00000366513.4 + 9 1637 c.1368G>C c.(1366-1368)caG>caC p.Q456H CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.Q456H NM_152609.2 NP_689822.2 Q6PJW8 CNST_HUMAN consortin, connexin sorting protein 456 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2) 28 CACAGGCTCAGAGGAAAGAAC 0.468000 OREG0014367 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 88 113 0 0 0.139131 0 0 DNMT3A 1788 broad.mit.edu 37 2 25472585 25472585 + Missense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr2:25472585C>G ENST00000380746.4 - 2 126 c.13G>C c.(13-15)Gag>Cag p.E5Q DNMT3A_ENST00000264709.3_Intron|DNMT3A_ENST00000402667.1_Intron|DNMT3A_ENST00000321117.5_Intron NM_153759.3 NP_715640.2 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 0 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACAACCCGCTCCAGGATCCCT 0.493000 """Mis, F, N, S""" AML 46 2 0 0 0.139131 0 0 NSD1 64324 broad.mit.edu 37 5 176638788 176638788 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr5:176638788G>C ENST00000439151.2 + 5 3433 c.3388G>C c.(3388-3390)Gaa>Caa p.E1130Q NSD1_ENST00000361032.4_Missense_Mutation_p.E1027Q|NSD1_ENST00000347982.4_Missense_Mutation_p.E861Q|NSD1_ENST00000354179.4_Missense_Mutation_p.E861Q NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1130 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) ACTCTCTTTTGAAAACGGAAA 0.408000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 15 0 0 0 0.132662 0 0 FANCM 57697 broad.mit.edu 37 14 45645029 45645029 + Silent SNP C C A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr14:45645029C>A ENST00000267430.5 + 14 3157 c.3072C>A c.(3070-3072)ccC>ccA p.P1024P FANCM_ENST00000542564.2_Silent_p.P998P NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1024 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 TTTTCTTACCCTGTGCAGAGC 0.373000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 28 27 2.48779e-11 2.55585e-11 0.108266 1 0 PMFBP1 83449 broad.mit.edu 37 16 72159997 72159997 + Missense_Mutation SNP T T C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr16:72159997T>C ENST00000537465.1 - 15 2296 c.2138A>G c.(2137-2139)cAg>cGg p.Q713R PMFBP1_ENST00000237353.10_Missense_Mutation_p.Q708R|PMFBP1_ENST00000355636.6_Missense_Mutation_p.Q563R Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 713 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) CAGCTGGGCCTGCAGGCTCAT 0.532000 4 261 0 0 0.014758 0 0 TAS1R3 83756 broad.mit.edu 37 1 1269301 1269301 + Silent SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:1269301G>A ENST00000339381.5 + 6 2048 c.2016G>A c.(2014-2016)ctG>ctA p.L672L NM_152228.1 NP_689414 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 672 detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) CAGACCGGCTGAGTGGCTGCC 0.687000 33 48 0 0 0.050027 0 0 FILIP1L 11259 broad.mit.edu 37 3 99649630 99649630 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr3:99649630G>C ENST00000331335.5 - 2 705 c.235C>G c.(235-237)Ctg>Gtg p.L79V FILIP1L_ENST00000354552.3_Missense_Mutation_p.L79V|FILIP1L_ENST00000398326.2_Missense_Mutation_p.L79V|CMSS1_ENST00000421999.2_Intron|CMSS1_ENST00000496116.1_Intron NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like 79 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 TCTCCCTCCAGAATGCTGAGG 0.493000 19 16 0 0 0.049695 0 0 ANKRD12 23253 broad.mit.edu 37 18 9258475 9258475 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr18:9258475G>C ENST00000262126.4 + 9 5450 c.5210G>C c.(5209-5211)aGa>aCa p.R1737T ANKRD12_ENST00000400020.3_Missense_Mutation_p.R1714T|ANKRD12_ENST00000383440.2_Missense_Mutation_p.R1714T NM_015208.4 NP_056023.3 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 AGAATGACTAGAAACAAAGCA 0.343000 20 9 0 0 0.049695 0 0 RNF214 257160 broad.mit.edu 37 11 117105073 117105073 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr11:117105073G>A ENST00000530849.1 + 1 95 c.85G>A c.(85-87)Gaa>Aaa p.E29K RNF214_ENST00000531287.1_Missense_Mutation_p.E29K|RNF214_ENST00000531452.1_Missense_Mutation_p.E29K|RNF214_ENST00000300650.4_Missense_Mutation_p.E29K Q8ND24 RN214_HUMAN ring finger protein 214 29 zinc ion binding cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258) CAAATCAGACGAAGGTCTCCC 0.478000 50 50 0 0 0.139131 0 0 HMBOX1 79618 broad.mit.edu 37 8 28902932 28902932 + Missense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr8:28902932C>G ENST00000397358.3 + 8 1610 c.906C>G c.(904-906)aaC>aaG p.N302K HMBOX1_ENST00000519047.1_Missense_Mutation_p.N302K|HMBOX1_ENST00000524238.1_Missense_Mutation_p.N302K|HMBOX1_ENST00000523613.1_Missense_Mutation_p.N302K|HMBOX1_ENST00000444075.1_Missense_Mutation_p.N302K|HMBOX1_ENST00000558662.1_Missense_Mutation_p.N302K|HMBOX1_ENST00000287701.10_Missense_Mutation_p.N302K|HMBOX1_ENST00000355231.5_Missense_Mutation_p.N302K NM_024567.3 NP_078843.2 Q6NT76 HMBX1_HUMAN homeobox containing 1 302 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 11 Ovarian(32;0.0192) KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161) AAATTGCAAACGCTTGCAATG 0.458000 59 57 0 0 0.139131 0 0 SUPT16H 11198 broad.mit.edu 37 14 21831283 21831283 + Missense_Mutation SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr14:21831283C>T ENST00000216297.2 - 13 1759 c.1421G>A c.(1420-1422)cGa>cAa p.R474Q NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 474 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) ATGTGCTCTTCGCTTCTCTTC 0.398000 50 62 0 0 0.139131 0 0 ALDH16A1 126133 broad.mit.edu 37 19 49965915 49965915 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr19:49965915G>A ENST00000293350.4 + 8 1164 c.1001G>A c.(1000-1002)cGa>cAa p.R334Q ALDH16A1_ENST00000540132.1_Missense_Mutation_p.R171Q|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.R169Q|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.R283Q NM_153329.3 NP_699160.2 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 334 oxidoreductase activity|protein binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3) 20 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) CGGAGTGGCCGAGGGCTGGAT 0.672000 42 36 0 0 0.098360 0 0 CTAGE5 4253 broad.mit.edu 37 14 39777766 39777766 + Missense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr14:39777766C>G ENST00000553728.1 + 17 2986 c.2773C>G c.(2773-2775)Caa>Gaa p.Q925E CTAGE5_ENST00000396158.2_Missense_Mutation_p.Q395E|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.Q361E|CTAGE5_ENST00000341502.5_Missense_Mutation_p.Q390E|CTAGE5_ENST00000341749.3_Missense_Mutation_p.Q378E|CTAGE5_ENST00000348007.3_Missense_Mutation_p.Q390E|CTAGE5_ENST00000553352.1_Missense_Mutation_p.Q361E|CTAGE5_ENST00000396165.4_Missense_Mutation_p.Q361E|CTAGE5_ENST00000556148.1_Missense_Mutation_p.Q315E|CTAGE5_ENST00000280083.3_Missense_Mutation_p.Q390E|CTAGE5_ENST00000557038.1_Missense_Mutation_p.Q310E TGAATTATATCAAGAAAATGA 0.299000 39 65 0 0 0.092188 0 0 AATK 9625 broad.mit.edu 37 17 79095226 79095226 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr17:79095226G>A ENST00000326724.4 - 11 2534 c.2510C>T c.(2509-2511)gCc>gTc p.A837V AATK_ENST00000417379.1_Missense_Mutation_p.A734V NM_001080395.2 NP_001073864.2 Q6ZMQ8 LMTK1_HUMAN apoptosis-associated tyrosine kinase 837 integral to membrane|mitochondrion|perinuclear region of cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1) 21 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) CAGCTTGATGGCAGACACCTC 0.672000 10 7 0 0 0.058154 0 0 GAS2L1 10634 broad.mit.edu 37 22 29704343 29704343 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr22:29704343G>A ENST00000471961.1 + 1 1296 c.248G>A c.(247-249)cGa>cAa p.R83Q GAS2L1_ENST00000341313.6_Missense_Mutation_p.R83Q|GAS2L1_ENST00000407854.1_Missense_Mutation_p.R83Q|GAS2L1_ENST00000403764.1_Missense_Mutation_p.R83Q|GAS2L1_ENST00000360113.2_Missense_Mutation_p.R83Q|GAS2L1_ENST00000406549.3_Missense_Mutation_p.R83Q|GAS2L1_ENST00000407647.2_Missense_Mutation_p.R83Q Q99501 GA2L1_HUMAN growth arrest-specific 2 like 1 83 CH. cell cycle arrest cytoplasm|cytoskeleton endometrium(2)|lung(2)|prostate(1) 5 CGCCCGGCCCGAGGTGTGGCC 0.692000 14 14 0 0 0.119110 0 0 TAS1R3 83756 broad.mit.edu 37 1 1267908 1267908 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:1267908G>C ENST00000339381.5 + 3 1029 c.997G>C c.(997-999)Gag>Cag p.E333Q NM_152228.1 NP_689414 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 333 detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) CCAGCTGCACGAGTTCCCCCA 0.687000 16 57 0 0 0.038395 0 0 ZNF37A 7587 broad.mit.edu 37 10 38406358 38406358 + Missense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr10:38406358C>G ENST00000361085.5 + 7 624 c.279C>G c.(277-279)ttC>ttG p.F93L ZNF37A_ENST00000351773.3_Missense_Mutation_p.F93L NM_001178101.1|NM_003421.2 NP_001171572.1|NP_003412.1 P17032 ZN37A_HUMAN zinc finger protein 37A nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1) 28 TAATGAAGTTCAATGAGTTTA 0.294000 47 4 0 0 0.139131 0 0 F2RL2 2151 broad.mit.edu 37 5 75914058 75914058 + Missense_Mutation SNP G G T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr5:75914058G>T ENST00000296641.4 - 2 677 c.474C>A c.(472-474)aaC>aaA p.N158K IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000502745.1_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.N136K|IQGAP2_ENST00000274364.6_Intron NM_004101.3 NP_004092.1 O00254 PAR3_HUMAN coagulation factor II (thrombin) receptor-like 2 158 platelet activation extracellular region|integral to plasma membrane phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3) 32 all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) CAAATACCCAGTTGTTCCCAT 0.468000 31 39 3.86903e-22 4.15153e-22 0.054565 1 0 FANCM 57697 broad.mit.edu 37 14 45645527 45645527 + Silent SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr14:45645527C>G ENST00000267430.5 + 14 3655 c.3570C>G c.(3568-3570)ctC>ctG p.L1190L FANCM_ENST00000542564.2_Silent_p.L1164L NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1190 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 ATTCTGAACTCCAAGATCAAA 0.363000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 32 44 0 0 0.045705 0 0 KIAA0907 22889 broad.mit.edu 37 1 155891321 155891321 + Nonsense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:155891321G>A ENST00000368320.3 - 10 1136 c.1111C>T c.(1111-1113)Cag>Tag p.Q371* KIAA0907_ENST00000368319.3_Intron|KIAA0907_ENST00000368321.3_Nonsense_Mutation_p.Q371*|KIAA0907_ENST00000482337.1_Intron Q7Z7F0 K0907_HUMAN KIAA0907 371 Pro-rich. breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) ACTGGCTGCTGAGGAGGGGGA 0.517000 34 37 0 0 0.064281 0 0 TAS1R3 83756 broad.mit.edu 37 1 1267054 1267054 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:1267054G>C ENST00000339381.5 + 2 260 c.228G>C c.(226-228)atG>atC p.M76I NM_152228.1 NP_689414 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 76 detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) CACTGGCCATGAAAATGGCCG 0.632000 15 52 0 0 0.119110 0 0 PRSS12 8492 broad.mit.edu 37 4 119239542 119239542 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr4:119239542G>A ENST00000296498.3 - 5 1423 c.1141C>T c.(1141-1143)Cct>Tct p.P381S NM_003619.3 NP_003610.2 P56730 NETR_HUMAN protease, serine, 12 (neurotrypsin, motopsin) 381 SRCR 2. membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 29 CCTGTTAGAGGGGTACAGGAC 0.493000 38 3 0 0 0.092188 0 0 SLC4A10 57282 broad.mit.edu 37 2 162696418 162696418 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr2:162696418G>A ENST00000375514.5 + 5 717 c.430G>A c.(430-432)Gag>Aag p.E144K SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000446997.1_Missense_Mutation_p.E133K|SLC4A10_ENST00000535165.1_Missense_Mutation_p.E133K|SLC4A10_ENST00000421911.1_Missense_Mutation_p.E133K|SLC4A10_ENST00000415876.2_Missense_Mutation_p.E133K|SLC4A10_ENST00000272716.5_Missense_Mutation_p.E133K NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 133 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TGAGGACGCTGAGTGGCGAGA 0.403000 41 9 0 0 0.111260 0 0 TPR 7175 broad.mit.edu 37 1 186344138 186344138 + Missense_Mutation SNP A A T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:186344138A>T ENST00000367478.4 - 1 319 c.23T>A c.(22-24)gTc>gAc p.V8D TPR_ENST00000474852.1_5'UTR NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) GCGCTCCAGGACTTGCTGCAA 0.607000 T NTRK1 papillary thyroid 17 27 0 0 0.038395 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 3 50 0 0 0.115264 0 0 ZNF75D 7626 broad.mit.edu 37 X 134427717 134427717 + Missense_Mutation SNP A A G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chrX:134427717A>G ENST00000370766.3 - 3 3059 c.350T>C c.(349-351)gTc>gCc p.V117A ZNF75D_ENST00000370764.1_Missense_Mutation_p.V117A|ZNF75D_ENST00000494295.1_Intron NM_007131.3 NP_009062.2 P51815 ZN75D_HUMAN zinc finger protein 75D 117 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 AGCCTGTTTGACATTCTGTGG 0.468000 3 65 0 0 0.115264 0 0 PARP6 56965 broad.mit.edu 37 15 72558267 72558267 + Silent SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr15:72558267C>T ENST00000569795.1 - 5 834 c.147G>A c.(145-147)gaG>gaA p.E49E PARP6_ENST00000287196.9_Silent_p.E49E|PARP6_ENST00000260376.7_Silent_p.E49E|PARP6_ENST00000413097.2_5'UTR Q2NL67 PARP6_HUMAN poly (ADP-ribose) polymerase family, member 6 49 NAD+ ADP-ribosyltransferase activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1) 18 CACTGTAGATCTCCTTCACGG 0.502000 19 4 0 0 0.069288 0 0 ABCC9 10060 broad.mit.edu 37 12 22086837 22086837 + Missense_Mutation SNP T T C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr12:22086837T>C ENST00000261200.4 - 2 162 c.163A>G c.(163-165)Aaa>Gaa p.K55E ABCC9_ENST00000345162.2_Missense_Mutation_p.K55E|ABCC9_ENST00000538350.1_Missense_Mutation_p.K55E|ABCC9_ENST00000261201.4_Missense_Mutation_p.K55E|ABCC9_ENST00000326684.4_Missense_Mutation_p.K55E NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 55 defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) ATTTGTACTTTTGAGCTTTGG 0.373000 40 48 0 0 0.124865 0 0 RB1 5925 broad.mit.edu 37 13 49050864 49050864 + Nonsense_Mutation SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr13:49050864C>T ENST00000267163.4 + 25 2686 c.2548C>T c.(2548-2550)Cag>Tag p.Q850* RB1_ENST00000484879.1_3'UTR NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 850 Domain C; mediates interaction with E4F1.|Interaction with LIMD1. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(11)|p.Q850*(1) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GAAAATAAATCAGATGGTATG 0.363000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 40 0 0 0 0.086207 0 0 KCNK1 3775 broad.mit.edu 37 1 233750080 233750080 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:233750080G>A ENST00000366621.3 + 1 331 c.163G>A c.(163-165)Gag>Aag p.E55K NM_002245.3 NP_002236.1 O00180 KCNK1_HUMAN potassium channel, subfamily K, member 1 55 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) GCTGCGCCAGGAGCTGCGCAA 0.632000 3 10 0 0 0.038147 0 0 RIC8A 60626 broad.mit.edu 37 11 209369 209369 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr11:209369G>A ENST00000527696.1 + 1 301 c.77G>A c.(76-78)aGa>aAa p.R26K RIC8A_ENST00000526104.1_Intron|RIC8A_ENST00000325207.5_Intron Q9NPQ8 RIC8A_HUMAN RIC8 guanine nucleotide exchange factor A 0 cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1) 13 all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) GCCCCAGGAAGAAGGGCCTGG 0.647000 65 62 0 0 0.139131 0 0 MCOLN1 57192 broad.mit.edu 37 19 7591788 7591788 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr19:7591788G>C ENST00000264079.6 + 4 672 c.547G>C c.(547-549)Gac>Cac p.D183H NM_020533.2 NP_065394.1 Q9GZU1 MCLN1_HUMAN mucolipin 1 183 ALCQRYYHRGHVDPANDTFDIDPMVVTD -> LSASGTTTE ATWTRPTTHLTLIRWWLLVN (in Ref. 3; AAG42242). calcium ion transport|cellular iron ion homeostasis|transferrin transport integral to plasma membrane|late endosome membrane|lysosomal membrane cation channel activity|iron ion transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CGACACATTTGACATTGATCC 0.592000 36 40 0 0 0.098360 0 0 CREB3L4 148327 broad.mit.edu 37 1 153941869 153941869 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:153941869G>A ENST00000368607.3 + 4 747 c.481G>A c.(481-483)Gat>Aat p.D161N CREB3L4_ENST00000368603.1_Missense_Mutation_p.D161N|CREB3L4_ENST00000271889.4_Missense_Mutation_p.D161N|CREB3L4_ENST00000368600.3_Missense_Mutation_p.D141N|CREB3L4_ENST00000368601.1_Missense_Mutation_p.D161N|CREB3L4_ENST00000405694.3_Missense_Mutation_p.D14N NM_001255978.1|NM_001255980.1|NM_130898.3 NP_001242907.1|NP_001242909.1|NP_570968.1 Q8TEY5 CR3L4_HUMAN cAMP responsive element binding protein 3-like 4 161 response to unfolded protein endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3) 13 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GCTGCCCTTTGATGCTCATGC 0.547000 61 42 0 0 0.139131 0 0 FUT7 2529 broad.mit.edu 37 9 139925972 139925972 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr9:139925972G>C ENST00000314412.6 - 2 1237 c.219C>G c.(217-219)atC>atG p.I73M C9orf139_ENST00000314330.2_Intron NM_004479.3 NP_004470.1 Q11130 FUT7_HUMAN fucosyltransferase 7 (alpha (1,3) fucosyltransferase) 73 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1) 8 all_cancers(76;0.0893) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) GGCAGCGGGCGATGCCGTAGC 0.711000 4 0 0 0 0.021553 0 0 KLHL6 89857 broad.mit.edu 37 3 183209739 183209739 + Silent SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr3:183209739G>A ENST00000341319.3 - 7 1877 c.1842C>T c.(1840-1842)atC>atT p.I614I NM_130446.2 NP_569713.2 Q8WZ60 KLHL6_HUMAN kelch-like family member 6 614 breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) CTCCGGGCACGATCCTGCGGA 0.672000 45 41 0 0 0.117977 0 0 HNF4A 3172 broad.mit.edu 37 20 43052974 43052974 + Silent SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr20:43052974C>T ENST00000443598.2 + 8 1298 c.1209C>T c.(1207-1209)ctC>ctT p.L403L HNF4A_ENST00000316099.4_Intron|HNF4A_ENST00000609795.1_Silent_p.L381L|HNF4A_ENST00000316673.4_Intron|HNF4A_ENST00000415691.2_Intron|HNF4A_ENST00000457232.1_Intron NM_178850.2 NP_849181.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 0 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) gctcacccctcagctccttgg 0.592000 6 8 0 0 0.021553 0 0 ZFYVE9 9372 broad.mit.edu 37 1 52811858 52811858 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:52811858G>C ENST00000287727.3 + 19 4415 c.4243G>C c.(4243-4245)Gaa>Caa p.E1415Q ZFYVE9_ENST00000371591.1_Missense_Mutation_p.E1415Q|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.E1356Q O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 1415 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 53 CGTTGTCATGGAACTCATCTT 0.478000 50 96 0 0 0.139131 0 0 SLFN12L 100506736 broad.mit.edu 37 17 33807041 33807041 + Nonsense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr17:33807041G>C ENST00000260908.7 - 2 305 c.188C>G c.(187-189)tCa>tGa p.S63* SLFN12L_ENST00000449046.1_Nonsense_Mutation_p.S94*|SLFN12L_ENST00000361112.4_Nonsense_Mutation_p.S92* NM_001195790.1 NP_001182719.1 Q6IEE8 SN12L_HUMAN schlafen family member 12-like 95 integral to membrane ATP binding breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1) 16 CACAGCTCGTGAGACATTTTC 0.408000 20 26 0 0 0.055883 0 0 NCAPD3 23310 broad.mit.edu 37 11 134073692 134073692 + Missense_Mutation SNP T T C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr11:134073692T>C ENST00000534548.2 - 11 1389 c.1325A>G c.(1324-1326)aAg>aGg p.K442R NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 442 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) CACCAGGAACTTATGCTTTAA 0.468000 38 50 0 0 0.092188 0 0 OR10A3 26496 broad.mit.edu 37 11 7960813 7960813 + Silent SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr11:7960813G>C ENST00000360759.3 - 1 328 c.255C>G c.(253-255)ctC>ctG p.L85L NM_001003745.1 NP_001003745.1 P58181 O10A3_HUMAN olfactory receptor, family 10, subfamily A, member 3 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2) 21 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TCTCAGTAGAGAGCACCACCA 0.473000 28 41 0 0 0.099896 0 0 BRMS1 25855 broad.mit.edu 37 11 66108729 66108729 + Silent SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr11:66108729C>T ENST00000359957.3 - 4 466 c.306G>A c.(304-306)acG>acA p.T102T BRMS1_ENST00000425825.2_Silent_p.T102T NM_015399.3 NP_056214.1 Q9HCU9 BRMS1_HUMAN breast cancer metastasis suppressor 1 102 apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent cytoplasm|nucleus NF-kappaB binding large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1) 5 CAAGGGGCTCCGTGTATTCAG 0.622000 30 28 0 0 0.125774 0 0 EXOSC10 5394 broad.mit.edu 37 1 11159777 11159777 + Splice_Site SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:11159777C>G ENST00000544779.1 - 1 117 c.e1+1 RP4-635E18.6_ENST00000447600.1_RNA|EXOSC10_ENST00000376936.4_Splice_Site|EXOSC10_ENST00000304457.7_Splice_Site|RP4-635E18.6_ENST00000435388.1_RNA Q01780 EXOSX_HUMAN exosome component 10 CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202) CGCGAACTCACCTTCACAAAG 0.706000 22 41 0 0 0.062417 0 0 CYP26B1 56603 broad.mit.edu 37 2 72359511 72359511 + Missense_Mutation SNP T T C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr2:72359511T>C ENST00000001146.2 - 6 1587 c.1384A>G c.(1384-1386)Agc>Ggc p.S462G CYP26B1_ENST00000546307.1_Missense_Mutation_p.S387G|CYP26B1_ENST00000412253.1_Missense_Mutation_p.S271G NM_001277742.1|NM_019885.2 NP_001264671.1|NP_063938.1 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily B, polypeptide 1 462 cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2) 28 TCAAAGCGGCTGGTGCTAGCC 0.647000 17 0 0 0 0.038395 0 0 HTRA4 203100 broad.mit.edu 37 8 38831863 38831863 + Silent SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr8:38831863C>G ENST00000302495.4 + 1 181 c.81C>G c.(79-81)ctC>ctG p.L27L NM_153692.3 NP_710159.1 P83105 HTRA4_HUMAN HtrA serine peptidase 4 27 proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1) 11 all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955) LUSC - Lung squamous cell carcinoma(45;1.5e-07) TGCCCGTCCTCTGGGCCGGGG 0.711000 18 16 0 0 0.038395 0 0 CAMK1 8536 broad.mit.edu 37 3 9801412 9801412 + Silent SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr3:9801412C>T ENST00000256460.3 - 9 945 c.768G>A c.(766-768)ttG>ttA p.L256L OGG1_ENST00000349503.5_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000302008.8_Intron NM_003656.4 NP_003647.1 Q14012 KCC1A_HUMAN calcium/calmodulin-dependent protein kinase I 256 Protein kinase. cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 12 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.0475) CCTTCTCCATCAAGTGCCGGA 0.522000 82 92 0 0 0.139131 0 0 EPC2 26122 broad.mit.edu 37 2 149519412 149519412 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr2:149519412G>C ENST00000258484.6 + 5 762 c.728G>C c.(727-729)aGa>aCa p.R243T NM_015630.3 NP_056445.3 Q52LR7 EPC2_HUMAN enhancer of polycomb homolog 2 (Drosophila) 243 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0516) GAATTTAGTAGAGCCATAACA 0.308000 19 0 0 0 0.049695 0 0 LOXL1 4016 broad.mit.edu 37 15 74219679 74219679 + Silent SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr15:74219679C>T ENST00000261921.7 + 1 881 c.555C>T c.(553-555)gtC>gtT p.V185V LOXL1-AS1_ENST00000567257.1_RNA|LOXL1-AS1_ENST00000568087.1_RNA|LOXL1-AS1_ENST00000562965.1_RNA|LOXL1-AS1_ENST00000566675.1_RNA|LOXL1-AS1_ENST00000565416.1_RNA|LOXL1-AS1_ENST00000564963.1_RNA|LOXL1-AS1_ENST00000564194.1_RNA|LOXL1-AS1_ENST00000565756.1_RNA|LOXL1-AS1_ENST00000562739.1_RNA NM_005576.2 NP_005567.2 Q08397 LOXL1_HUMAN lysyl oxidase-like 1 185 protein deamination extracellular space copper ion binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 CGCCCTTCGTCAGCCAGTACG 0.736000 53 1 0 0 0.139131 0 0 USP3 9960 broad.mit.edu 37 15 63880588 63880588 + Missense_Mutation SNP C C A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr15:63880588C>A ENST00000268049.7 + 13 1439 c.1115C>A c.(1114-1116)tCc>tAc p.S372Y USP3-AS1_ENST00000559861.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3_ENST00000558218.1_3'UTR|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000558285.1_Missense_Mutation_p.S377Y|USP3_ENST00000380324.3_Missense_Mutation_p.S394Y|USP3-AS1_ENST00000559737.1_RNA|USP3_ENST00000559711.1_Missense_Mutation_p.S305Y|USP3-AS1_ENST00000558831.1_RNA|USP3_ENST00000540797.1_Missense_Mutation_p.S350Y|USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000539772.1_Missense_Mutation_p.S145Y Q9Y6I4 UBP3_HUMAN ubiquitin specific peptidase 3 394 DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process nuclear chromatin histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding endometrium(3)|large_intestine(7)|lung(4) 14 GBM - Glioblastoma multiforme(80;0.0187) AAACAAAAGTCCACAAAAAAG 0.338000 28 3 9.39395e-14 9.86073e-14 0.116897 1 0 ZBBX 79740 broad.mit.edu 37 3 167023707 167023707 + Silent SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr3:167023707G>A ENST00000392766.2 - 17 1789 c.1449C>T c.(1447-1449)atC>atT p.I483I ZBBX_ENST00000455345.2_Silent_p.I483I|ZBBX_ENST00000392764.1_Silent_p.I454I|ZBBX_ENST00000392767.2_Silent_p.I483I|ZBBX_ENST00000307529.5_Silent_p.I483I NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 483 intracellular zinc ion binding p.I483I(2) NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 CAGGATCCACGATGTTGTCAA 0.284000 7 16 0 0 0.058154 0 0 MALAT1 378938 broad.mit.edu 37 11 65272556 65272556 + RNA SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr11:65272556G>C ENST00000534336.1 + 0 7324 NR_002819.2 GTATTGAATAGATTTCAGCTT 0.413000 36 29 0 0 0.074837 0 0 DCC 1630 broad.mit.edu 37 18 50450225 50450225 + Silent SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr18:50450225C>G ENST00000442544.2 + 4 1462 c.846C>G c.(844-846)ctC>ctG p.L282L DCC_ENST00000412726.1_Silent_p.L130L NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 282 Ig-like C2-type 3. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TCATCCAACTCAGGTATTTCA 0.368000 25 22 0 0 0.091800 0 0 MYH4 4622 broad.mit.edu 37 17 10363353 10363353 + Silent SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr17:10363353G>A ENST00000255381.2 - 14 1442 c.1332C>T c.(1330-1332)acC>acT p.T444T CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 444 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GGTTGATGCGGGTGACCATCC 0.478000 89 5 0 0 0.139131 0 0 MAP3K9 4293 broad.mit.edu 37 14 71216771 71216771 + Silent SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr14:71216771C>T ENST00000554752.2 - 4 1028 c.1029G>A c.(1027-1029)ctG>ctA p.L343L MAP3K9_ENST00000555993.2_Silent_p.L343L|MAP3K9_ENST00000381250.4_Silent_p.L343L|MAP3K9_ENST00000554146.1_Silent_p.L80L|MAP3K9_ENST00000553414.1_Silent_p.L37L NM_001284230.1 NP_001271159.1 P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 343 Protein kinase. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) CCTCACCAGTCAGCAACTCCC 0.488000 31 38 0 0 0.054565 0 0 ZSCAN22 342945 broad.mit.edu 37 19 58846211 58846211 + Missense_Mutation SNP G G C rs143306274 byFrequency TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr19:58846211G>C ENST00000329665.4 + 2 190 c.43G>C c.(43-45)Gag>Cag p.E15Q NM_181846.2 NP_862829.1 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 15 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2) 16 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) GCCGTGGGAAGAGGACAGCTT 0.617000 21 23 0 0 0.055883 0 0 SNX18 112574 broad.mit.edu 37 5 53815453 53815453 + Silent SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr5:53815453G>A ENST00000343017.6 + 1 1865 c.1671G>A c.(1669-1671)ctG>ctA p.L557L SNX18_ENST00000326277.3_Silent_p.L557L|SNX18_ENST00000381410.4_Intron NM_001145427.1 NP_001138899.1 Q96RF0 SNX18_HUMAN sorting nexin 18 557 BAR. cell communication|endocytosis|positive regulation of GTPase activity|protein transport endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane phosphatidylinositol binding|protein binding endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 18 Lung NSC(810;3.46e-05)|Breast(144;0.102) TGTGCAGGCTGAAAGGGGCGA 0.517000 41 55 0 0 0.104719 0 0 TTLL4 9654 broad.mit.edu 37 2 219610931 219610931 + Nonsense_Mutation SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr2:219610931C>T ENST00000392102.1 + 8 2291 c.1951C>T c.(1951-1953)Cga>Tga p.R651* TTLL4_ENST00000457313.1_Nonsense_Mutation_p.R486*|TTLL4_ENST00000258398.4_Nonsense_Mutation_p.R651*|TTLL4_ENST00000442769.1_Nonsense_Mutation_p.R651* NM_014640.4 NP_055455.3 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 651 TTL. protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) TCCTAGTTTCCGATCCATTCG 0.542000 62 7 0 0 0.139131 0 0 DLG1 1739 broad.mit.edu 37 3 196778533 196778533 + Missense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr3:196778533C>G ENST00000346964.2 - 25 2778 c.2589G>C c.(2587-2589)atG>atC p.M863I DLG1_ENST00000450955.1_Missense_Mutation_p.M830I|DLG1_ENST00000392382.2_Missense_Mutation_p.M808I|DLG1_ENST00000419354.1_Missense_Mutation_p.M841I|DLG1_ENST00000422288.1_Missense_Mutation_p.M790I|DLG1_ENST00000443183.1_Missense_Mutation_p.M737I|DLG1_ENST00000314062.3_Missense_Mutation_p.M790I|DLG1_ENST00000357674.4_Missense_Mutation_p.M830I|DLG1_ENST00000452595.1_Missense_Mutation_p.M725I|DLG1_ENST00000448528.2_Missense_Mutation_p.M841I NM_004087.2 NP_004078.2 Q12959 DLG1_HUMAN discs, large homolog 1 (Drosophila) 841 Guanylate kinase-like. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) GACGCTTATTCATTTCCCTAC 0.328000 34 33 0 0 0.064281 0 0 TAS1R3 83756 broad.mit.edu 37 1 1267072 1267072 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:1267072G>C ENST00000339381.5 + 2 278 c.246G>C c.(244-246)gaG>gaC p.E82D NM_152228.1 NP_689414 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 82 detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) CCGTGGAGGAGATCAACAACA 0.622000 20 61 0 0 0.043863 0 0 CTNNA2 1496 broad.mit.edu 37 2 80773162 80773162 + Missense_Mutation SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr2:80773162C>T ENST00000466387.1 + 15 2238 c.1514C>T c.(1513-1515)tCa>tTa p.S505L CTNNA2_ENST00000541047.1_Missense_Mutation_p.S505L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.S505L|CTNNA2_ENST00000343114.3_Missense_Mutation_p.S184L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S539L|CTNNA2_ENST00000402739.4_Missense_Mutation_p.S505L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.S505L P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 505 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton p.S505*(1) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 GACATCACCTCAGTGGATGAC 0.512000 12 0 0 0 0.105934 0 0 TMPRSS12 283471 broad.mit.edu 37 12 51279033 51279033 + Silent SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr12:51279033C>T ENST00000551456.1 + 4 702 c.657C>T c.(655-657)aaC>aaT p.N219N TMPRSS12_ENST00000398458.3_Silent_p.N219N Q86WS5 TMPSC_HUMAN transmembrane (C-terminal) protease, serine 12 219 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 18 TAACAGGTAACGCTACAAATA 0.318000 32 46 0 0 0.144211 0 0 PDE4A 5141 broad.mit.edu 37 19 10572652 10572652 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr19:10572652G>C ENST00000380702.2 + 14 1654 c.1654G>C c.(1654-1656)Gat>Cat p.D552H PDE4A_ENST00000592685.1_Missense_Mutation_p.D552H|PDE4A_ENST00000344979.3_Missense_Mutation_p.D335H|PDE4A_ENST00000440014.2_Missense_Mutation_p.D513H|PDE4A_ENST00000352831.6_Missense_Mutation_p.D574H|PDE4A_ENST00000293683.5_Missense_Mutation_p.D548H P27815 PDE4A_HUMAN phosphodiesterase 4A, cAMP-specific 574 Catalytic. signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) CCTCCTGCTAGATAACTACTC 0.597000 41 62 0 0 0.124865 0 0 TSTD2 158427 broad.mit.edu 37 9 100373977 100373977 + Missense_Mutation SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr9:100373977C>T ENST00000341170.4 - 5 990 c.608G>A c.(607-609)cGa>cAa p.R203Q TSTD2_ENST00000484708.1_5'UTR|TSTD2_ENST00000354801.2_Intron NM_139246.4 NP_640339.4 Q5T7W7 TSTD2_HUMAN thiosulfate sulfurtransferase (rhodanese)-like domain containing 2 203 large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 15 TGCAGCAATTCGAATCTGAGA 0.413000 40 1 0 0 0.117977 0 0 BRAF 673 broad.mit.edu 37 7 140534527 140534527 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr7:140534527G>A ENST00000288602.6 - 3 446 c.386C>T c.(385-387)tCa>tTa p.S129L NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 129 Poly-Ser. activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) AGGTAGCACTGAAAGGCTAGA 0.443000 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 26 43 0 0 0.091800 0 0 CNST 163882 broad.mit.edu 37 1 246810748 246810748 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr1:246810748G>C ENST00000366513.4 + 9 1514 c.1245G>C c.(1243-1245)gaG>gaC p.E415D CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.E415D NM_152609.2 NP_689822.2 Q6PJW8 CNST_HUMAN consortin, connexin sorting protein 415 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2) 28 CCAGAATAGAGGGCATTGCTG 0.532000 OREG0014367 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 110 124 0 0 0.139131 0 0 ATP9B 374868 broad.mit.edu 37 18 77089266 77089266 + Silent SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr18:77089266C>T ENST00000426216.2 + 16 1916 c.1899C>T c.(1897-1899)ttC>ttT p.F633F ATP9B_ENST00000307671.7_Silent_p.F633F NM_198531.3 NP_940933.3 O43861 ATP9B_HUMAN ATPase, class II, type 9B 633 ATP biosynthetic process integral to membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1) 38 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) TGTTTCCCTTCACCTCCGAGA 0.587000 57 55 0 0 0.139131 0 0 GPR18 2841 broad.mit.edu 37 13 99907920 99907920 + Missense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr13:99907920C>G ENST00000340807.3 - 3 763 c.207G>C c.(205-207)ttG>ttC p.L69F GPR18_ENST00000397473.2_Missense_Mutation_p.L69F|GPR18_ENST00000397470.2_Missense_Mutation_p.L69F|UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron Q14330 GPR18_HUMAN G protein-coupled receptor 18 69 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|large_intestine(2)|lung(6) 10 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Glycine(DB00145) TTATAAATATCAAGTCCACTA 0.373000 26 61 0 0 0.099896 0 0 NLRP14 338323 broad.mit.edu 37 11 7064529 7064529 + Silent SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr11:7064529G>A ENST00000299481.4 + 4 1618 c.1272G>A c.(1270-1272)ctG>ctA p.L424L NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 424 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) AAGCCCAGCTGAGAAGACTGT 0.458000 68 72 0 0 0.139131 0 0 CYP2B6 1555 broad.mit.edu 37 19 41512931 41512931 + Missense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr19:41512931C>G ENST00000324071.4 + 4 613 c.606C>G c.(604-606)ttC>ttG p.F202L CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000598834.1_3'UTR NM_000767.4 NP_000758.1 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, polypeptide 6 202 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding p.F202L(1) NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) TGAACTTGTTCTACCAGACTT 0.512000 61 90 0 0 0.139131 0 0 DMXL1 1657 broad.mit.edu 37 5 118469494 118469494 + Silent SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr5:118469494C>T ENST00000311085.8 + 12 1955 c.1875C>T c.(1873-1875)ctC>ctT p.L625L DMXL1_ENST00000539542.1_Silent_p.L625L NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 625 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) CTACTGTTCTCAGTATTTCCC 0.378000 29 38 0 0 0.134883 0 0 PKD2L2 27039 broad.mit.edu 37 5 137275811 137275812 + Frame_Shift_Ins INS - - T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr5:137275811_137275812insT ENST00000290431.5 + 14 1840_1841 c.1817_1818insT c.(1816-1821)tctgagfs p.E607fs PKD2L2_ENST00000508638.1_3'UTR|PKD2L2_ENST00000502810.1_3'UTR|FAM13B_ENST00000033079.3_3'UTR|PKD2L2_ENST00000508883.1_Intron NM_014386.3 NP_055201.2 Q9NZM6 PK2L2_HUMAN polycystic kidney disease 2-like 2 0 integral to membrane calcium ion binding|ion channel activity breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) ATGAGATTCTCTGAGTGCCTGA 0.391 35 34 --- --- --- --- C11orf49 79096 broad.mit.edu 37 11 47182742 47182742 + Frame_Shift_Del DEL G G - rs34737621 TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr11:47182742delG ENST00000395460.2 + 8 860 c.822delG c.(820-822)ctgfs p.L274fs C11orf49_ENST00000378618.2_Splice_Site|C11orf49_ENST00000536126.1_Splice_Site|C11orf49_ENST00000278460.7_Splice_Site|C11orf49_ENST00000378615.3_Splice_Site|C11orf49_ENST00000543718.1_Splice_Site NM_001003676.1 NP_001003676.1 Q9H6J7 CK049_HUMAN chromosome 11 open reading frame 49 274 central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1) 11 TGGAACGGCTGTAAGTGTCAA 0.572 OREG0020950 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 41 49 --- --- --- --- TRIM51 84767 broad.mit.edu 37 11 55653610 55653610 + Frame_Shift_Del DEL A A - TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr11:55653610delA ENST00000449290.2 + 3 515 c.423delA c.(421-423)ctafs p.L141fs TRIM51_ENST00000244891.3_5'UTR NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 141 intracellular zinc ion binding AGGAGCTCCTAAAAAAAATGC 0.403 11 30 --- --- --- --- DDX28 55794 broad.mit.edu 37 16 68056722 68056722 + Frame_Shift_Del DEL A A - TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56924619-0724-4b3e-9c53-27c27d3789d6 1f537274-6e2a-4bba-bfa9-2b08de1e3658 g.chr16:68056722delA ENST00000332395.5 - 1 1048 c.384delT c.(382-384)tttfs p.F128fs NM_018380.3 NP_060850.2 Q9NUL7 DDX28_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 28 128 mitochondrial nucleoid|nucleus ATP binding|ATP-dependent helicase activity|RNA binding central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 13 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233) CCAGGTCAGCAAAGCTGCCCT 0.647 9 20 --- --- --- ---