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 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 3 23 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195690271 195690271 + RNA SNP T T C rs115852167 by1000genomes TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr3:195690271T>C ENST00000427841.1 - 0 2224 NR_003264.2 TTGTCGATTATGGGTCTATAT 0.403000 3 21 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109371498 109371498 + Silent SNP G G A TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr2:109371498G>A ENST00000283195.6 + 16 2466 c.2340G>A c.(2338-2340)ccG>ccA p.P780P NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 780 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 ATTCTACACCGTCTCCTACCA 0.353000 5 342 0 0 1 0 0 CATSPERG 57828 broad.mit.edu 37 19 38858384 38858384 + Silent SNP C C T rs2302184 TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr19:38858384C>T ENST00000409235.3 + 25 3013 c.2898C>T c.(2896-2898)gaC>gaT p.D966D CATSPERG_ENST00000410018.1_Silent_p.D926D|CATSPERG_ENST00000215069.4_3'UTR NM_021185.4 NP_067008.3 Q6ZRH7 CTSRG_HUMAN catsper channel auxiliary subunit gamma 966 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 ACAGTGAGGACGAAATCTACC 0.597000 93 158 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38122318 38122318 + Missense_Mutation SNP C C T TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr22:38122318C>T ENST00000406386.3 + 7 4010 c.3755C>T c.(3754-3756)tCc>tTc p.S1252F RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 1252 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) TCTGGGGGCTCCCGGGGCTCA 0.716000 6 47 0 0 1 0 0 AUTS2 26053 broad.mit.edu 37 7 69364311 69364311 + Missense_Mutation SNP C C T rs142957106 byFrequency TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr7:69364311C>T ENST00000342771.4 + 2 670 c.349C>T c.(349-351)Cgc>Tgc p.R117C AUTS2_ENST00000406775.2_Missense_Mutation_p.R117C|AUTS2_ENST00000403018.2_Missense_Mutation_p.R117C NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 117 p.R117C(1) breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) TGTGGAGAAACGCCAGACGCC 0.488000 27 44 0 0 1 0 0 ANKRD27 84079 broad.mit.edu 37 19 33149850 33149850 + Silent SNP C C T TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr19:33149850C>T ENST00000306065.4 - 2 230 c.72G>A c.(70-72)ttG>ttA p.L24L ANKRD27_ENST00000587352.1_Silent_p.L24L|ANKRD27_ENST00000586693.2_5'UTR NM_032139.2 NP_115515.2 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 24 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42 Esophageal squamous(110;0.137) CTTTGCTGCACAAGTCAGGGC 0.498000 17 19 0 0 1 0 0 TMEM132E 124842 broad.mit.edu 37 17 32959839 32959839 + Nonsense_Mutation SNP G G A TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr17:32959839G>A ENST00000321639.5 + 7 1657 c.1329G>A c.(1327-1329)tgG>tgA p.W443* NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 443 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) TGACAGTCTGGGTCCCCAAGC 0.587000 40 104 0 0 1 0 0 GSK3A 2931 broad.mit.edu 37 19 42738596 42738596 + Silent SNP G G A TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr19:42738596G>A ENST00000398249.4 - 5 2280 c.567C>T c.(565-567)gtC>gtT p.V189V GSK3A_ENST00000222330.3_Silent_p.V271V P49840 GSK3A_HUMAN glycogen synthase kinase 3 alpha 271 Protein kinase. insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process beta-catenin destruction complex|cytosol ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 19 Prostate(69;0.00682) GCTCCCCTCGGACCAACTGCT 0.592000 13 35 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79028017 79028017 + Missense_Mutation SNP T T A TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr5:79028017T>A ENST00000446378.2 + 2 3460 c.3429T>A c.(3427-3429)agT>agA p.S1143R NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1143 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) GGGAGGCAAGTTCATCAGTAG 0.423000 5 48 0 0 1 0 0 NELL1 4745 broad.mit.edu 37 11 21555934 21555934 + Missense_Mutation SNP T T C TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr11:21555934T>C ENST00000298925.5 + 17 1897 c.1744T>C c.(1744-1746)Tca>Cca p.S582P NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Intron|NELL1_ENST00000357134.5_Missense_Mutation_p.S554P|NELL1_ENST00000325319.5_Missense_Mutation_p.S497P Q92832 NELL1_HUMAN NEL-like 1 (chicken) 554 EGF-like 5; calcium-binding (Potential). cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 TGATGAATGTTCAGAGGGAAT 0.458000 43 52 0 0 1 0 0 RPA1 6117 broad.mit.edu 37 17 1795214 1795214 + Missense_Mutation SNP C C A TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr17:1795214C>A ENST00000254719.5 + 15 1749 c.1639C>A c.(1639-1641)Ctt>Att p.L547I NM_002945.3 NP_002936.1 P27694 RFA1_HUMAN replication protein A1, 70kDa 547 cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body metal ion binding|protein binding|single-stranded DNA binding breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2) 10 TGCTGCTTATCTTGGGGAATT 0.343000 Nucleotide excision repair (NER) 24 39 6.12954e-19 7.3159e-19 1 1 0 TBC1D10A 83874 broad.mit.edu 37 22 30691024 30691024 + Missense_Mutation SNP A A G TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr22:30691024A>G ENST00000215790.7 - 5 709 c.545T>C c.(544-546)gTg>gCg p.V182A RP1-130H16.18_ENST00000447976.1_Missense_Mutation_p.V56A|TBC1D10A_ENST00000403362.1_Missense_Mutation_p.V94A|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.V189A NM_031937.2 NP_114143.1 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 182 Rab-GAP TBC. intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 GGCCTTCAGCACACGGAATAG 0.637000 18 26 0 0 1 0 0 MBLAC1 255374 broad.mit.edu 37 7 99725140 99725140 + Missense_Mutation SNP A A C TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr7:99725140A>C ENST00000398075.2 + 2 521 c.122A>C c.(121-123)gAc>gCc p.D41A NM_203397.1 NP_981942.1 A4D2B0 MBLC1_HUMAN metallo-beta-lactamase domain containing 1 41 hydrolase activity|metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1) 7 GTGCGCGCCGACGGCTCCGTG 0.746000 4 5 0 0 1 0 0 PTPRN 5798 broad.mit.edu 37 2 220166408 220166408 + Missense_Mutation SNP G G A rs139651840 byFrequency TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr2:220166408G>A ENST00000295718.2 - 7 1268 c.1028C>T c.(1027-1029)gCg>gTg p.A343V PTPRN_ENST00000409251.3_Missense_Mutation_p.A343V|PTPRN_ENST00000423636.2_Missense_Mutation_p.A253V|AC114803.3_ENST00000417355.1_RNA NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 343 response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) CCCATAGCCCGCCAGCACAGC 0.612000 17 36 0 0 1 0 0 SLFN12 55106 broad.mit.edu 37 17 33738370 33738370 + Missense_Mutation SNP C C T TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr17:33738370C>T ENST00000394562.1 - 6 2247 c.1724G>A c.(1723-1725)cGa>cAa p.R575Q SLFN12_ENST00000452764.3_Missense_Mutation_p.R575Q|SLFN12_ENST00000304905.5_Missense_Mutation_p.R575Q|SLFN12_ENST00000460530.1_5'UTR Q8IYM2 SLN12_HUMAN schlafen family member 12 575 ATP binding breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GGTGAGCCTTCGACAAGATTT 0.318000 4 87 0 0 1 0 0 SLCO2A1 6578 broad.mit.edu 37 3 133664084 133664084 + Missense_Mutation SNP G G T rs147644142 by1000genomes TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr3:133664084G>T ENST00000310926.4 - 10 1589 c.1316C>A c.(1315-1317)cCg>cAg p.P439Q SLCO2A1_ENST00000493729.1_Missense_Mutation_p.P363Q NM_005630.2 NP_005621.2 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, member 2A1 439 Kazal-like. sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 AGGAGACTGCGGATGTATAGA 0.532000 16 124 6.94344e-10 7.5561e-10 1 1 0 GPR125 166647 broad.mit.edu 37 4 22390725 22390725 + Silent SNP C C T TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr4:22390725C>T ENST00000334304.5 - 18 2978 c.2709G>A c.(2707-2709)cgG>cgA p.R903R GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 903 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity p.R903R(1) breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) GTGCGTTTGGCCGACTGCCGT 0.418000 5 185 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91699396 91699396 + Missense_Mutation SNP T T G TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr7:91699396T>G ENST00000359028.2 + 28 6644 c.6419T>G c.(6418-6420)cTt>cGt p.L2140R AKAP9_ENST00000356239.3_Missense_Mutation_p.L2128R|AKAP9_ENST00000358100.2_Missense_Mutation_p.L2140R Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 2140 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TGCAGTGAGCTTTTGCTCTCT 0.348000 T BRAF papillary thyroid 42 45 0 0 1 0 0 ATP10B 23120 broad.mit.edu 37 5 160063209 160063209 + Missense_Mutation SNP T T A TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr5:160063209T>A ENST00000327245.5 - 11 1954 c.1108A>T c.(1108-1110)Aca>Tca p.T370S CTC-348L5.1_ENST00000523598.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 370 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATGATCATTGTGAGGAACATG 0.483000 20 29 0 0 1 0 0 VPS11 55823 broad.mit.edu 37 11 118947656 118947656 + Missense_Mutation SNP G G T TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr11:118947656G>T ENST00000300793.6 + 9 1327 c.1285G>T c.(1285-1287)Gcc>Tcc p.A429S VPS11_ENST00000527798.1_3'UTR NM_021729.4 NP_068375.3 Q9H270 VPS11_HUMAN vacuolar protein sorting 11 homolog (S. cerevisiae) 430 protein transport endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane nucleotide binding|protein binding|zinc ion binding autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 29 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.88e-05) GTTTCTGGATGCCCAGCGCAT 0.537000 4 24 0.00909568 0.00934834 1 1 0 DENND3 22898 broad.mit.edu 37 8 142202641 142202641 + Missense_Mutation SNP C C T rs143494640 TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr8:142202641C>T ENST00000519811.1 + 22 3585 c.3515C>T c.(3514-3516)gCg>gTg p.A1172V DENND3_ENST00000523308.1_Missense_Mutation_p.A142V|DENND3_ENST00000262585.2_Missense_Mutation_p.A1092V|DENND3_ENST00000424248.1_Missense_Mutation_p.A1040V A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 1092 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) CAGCTGTGGGCGGCCTGTGCA 0.667000 18 25 0 0 1 0 0 LRRC24 441381 broad.mit.edu 37 8 145749890 145749890 + Missense_Mutation SNP G G A TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr8:145749890G>A ENST00000529415.2 - 3 490 c.373C>T c.(373-375)Cgc>Tgc p.R125C LRRC24_ENST00000533758.1_Missense_Mutation_p.R125C|LRRC14_ENST00000292524.1_3'UTR Q50LG9 LRC24_HUMAN leucine rich repeat containing 24 125 integral to membrane breast(2)|endometrium(1)|kidney(1)|lung(1) 5 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) TAGAGCACGCGCAGCTGGGCC 0.711000 5 5 0 0 1 0 0 ZNF746 155061 broad.mit.edu 37 7 149191569 149191569 + Missense_Mutation SNP G G A TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr7:149191569G>A ENST00000461958.2 - 2 246 c.50C>T c.(49-51)aCg>aTg p.T17M ZNF746_ENST00000340622.3_Missense_Mutation_p.T17M|ZNF746_ENST00000458143.2_Missense_Mutation_p.T17M Q6NUN9 ZN746_HUMAN zinc finger protein 746 17 negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) GGCCTGAATCGTGGCTGCCAT 0.532000 14 74 0 0 1 0 0 CD200R1 131450 broad.mit.edu 37 3 112644012 112644012 + Missense_Mutation SNP T T A TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr3:112644012T>A ENST00000471858.1 - 5 961 c.729A>T c.(727-729)ttA>ttT p.L243F CD200R1_ENST00000295863.4_Intron|CD200R1_ENST00000308611.3_Missense_Mutation_p.L266F NM_170780.2 NP_740750.1 Q8TD46 MO2R1_HUMAN CD200 receptor 1 243 interspecies interaction between organisms|regulation of immune response extracellular region|integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 26 ATGGAATATATAATTTTGCTG 0.299000 15 30 0 0 1 0 0 TRPC4AP 26133 broad.mit.edu 37 20 33665958 33665958 + Missense_Mutation SNP G G A TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr20:33665958G>A ENST00000252015.2 - 2 277 c.188C>T c.(187-189)aCg>aTg p.T63M TRPC4AP_ENST00000451813.1_Missense_Mutation_p.T63M|TRPC4AP_ENST00000432634.2_Missense_Mutation_p.T63M Q8TEL6 TP4AP_HUMAN transient receptor potential cation channel, subfamily C, member 4 associated protein 63 Interaction with TNFRSF1A (By similarity). protein ubiquitination|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex protein binding breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(18;0.00936) GTCCCTCTCCGTCAAAAAAGT 0.443000 24 21 0 0 1 0 0 TMEM173 340061 broad.mit.edu 37 5 138857857 138857857 + Missense_Mutation SNP G G A TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr5:138857857G>A ENST00000330794.4 - 6 1090 c.757C>T c.(757-759)Cgg>Tgg p.R253W NM_198282.2 NP_938023.1 Q86WV6 TM173_HUMAN transmembrane protein 173 253 activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane protein homodimerization activity|protein kinase binding|transcription factor binding endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) ACACTTACCCGCTGCCCGTTC 0.577000 39 50 0 0 1 0 0 AGAP11 119385 broad.mit.edu 37 10 88759210 88759210 + RNA SNP C C T TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr10:88759210C>T ENST00000444431.1 + 0 340 RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding GTTTAGGTTGCCAAGCTGTTC 0.333000 5 24 0 0 1 0 0 DUOX1 53905 broad.mit.edu 37 15 45453998 45453998 + Silent SNP C C A TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr15:45453998C>A ENST00000321429.4 + 31 4326 c.3919C>A c.(3919-3921)Cgg>Agg p.R1307R CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Silent_p.R1307R|DUOX1_ENST00000561166.1_Silent_p.R953R NM_017434.3 NP_059130.2 Q9NRD9 DUOX1_HUMAN dual oxidase 1 1307 FAD-binding FR-type. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) GCAGTGGGTGCGGATCGCTTG 0.647000 19 37 6.44725e-10 7.45464e-10 1 1 0 SETD2 29072 broad.mit.edu 37 3 47125274 47125274 + Missense_Mutation SNP G G C TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr3:47125274G>C ENST00000409792.3 - 12 6038 c.5996C>G c.(5995-5997)cCa>cGa p.P1999R SETD2_ENST00000492397.1_5'UTR NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1999 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TGTTTTATCTGGCTGTTCTTG 0.413000 """N, F, S, Mis""" clear cell renal carcinoma 68 108 0 0 1 0 0 CTBS 1486 broad.mit.edu 37 1 85039999 85040007 + In_Frame_Del DEL GCAGCGCCA GCAGCGCCA - rs3217269 TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr1:85039999_85040007delGCAGCGCCA ENST00000370630.4 - 1 140_148 c.92_100delTGGCGCTGC c.(91-102)cgg>c p.LALR31del CTBS_ENST00000477677.1_5'UTR NM_004388.2 NP_004379.1 Q01459 DIAC_HUMAN chitobiase, di-N-acetyl- 31 lysosome cation binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1) 9 all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166) GCCGCGAGCCgcagcgccagcagcgccag 0.718 2 4 --- --- --- --- OTOP1 133060 broad.mit.edu 37 4 4228274 4228282 + In_Frame_Del DEL CCACAGCAG CCACAGCAG - rs111245977 TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr4:4228274_4228282delCCACAGCAG ENST00000296358.4 - 1 334_342 c.310_318delCTGCTGTGG c.(310-318)del p.LLW104del NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 104 biomineral tissue development extracellular space|integral to membrane p.L104_W106delLLW(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) ACCACAGCATCCACAGCAGCTGCAGCAGC 0.727 7 21 --- --- --- --- SKIDA1 387640 broad.mit.edu 37 10 21805466 21805467 + In_Frame_Ins INS - - CCTCCT rs138084841 by1000genomes TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr10:21805466_21805467insCCTCCT ENST00000449193.2 - 4 3537_3538 c.1285_1286insAGGAGG c.(1285-1287)ggg>AGGAGGggg p.428_429insRR SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insRR NM_207371.3 NP_997254.3 SKI/DACH domain containing 1 p.E428_G429insEE(2) CCCGCTGCccccctcctcctcc 0.619 5 6 --- --- --- --- TECPR2 9895 broad.mit.edu 37 14 102918941 102918941 + Frame_Shift_Del DEL C C - TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr14:102918941delC ENST00000359520.7 + 16 3843 c.3617delC c.(3616-3618)acfs p.T1206fs TECPR2_ENST00000558678.1_Frame_Shift_Del_p.T1206fs NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 1206 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 ATGCACTGGACCAGGCTGGAC 0.637 2 4 --- --- --- --- NPIPB5 100132247 broad.mit.edu 37 16 22545540 22545558 + Frame_Shift_Del DEL CGAGCGTCTGCGGGGGCCG CGAGCGTCTGCGGGGGCCG - TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr16:22545540_22545558delCGAGCGTCTGCGGGGGCCG ENST00000424340.1 + 7 1515_1533 c.1236_1254delCGAGCGTCTGCGGGGGCCG c.(1234-1254)gcfs p.AERLRGP412fs NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Frame_Shift_Del_p.AERLRGP412fs NM_001135865.1 NP_001129337.1 nuclear pore complex interacting protein family, member B5 AGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCT 0.562 3 6 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 8 26 --- --- --- --- ESF1 51575 broad.mit.edu 37 20 13756820 13756829 + Frame_Shift_Del DEL CTTTCTGAAT CTTTCTGAAT - TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr20:13756820_13756829delCTTTCTGAAT ENST00000202816.1 - 3 832_841 c.725_734delATTCAGAAAG c.(724-735)gcfs p.DSES242fs NM_001276380.1|NM_016649.3 NP_001263309.1|NP_057733.2 Q9H501 ESF1_HUMAN ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) 242 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm p.S243S(1) endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1) 31 TTCACTAACGCTTTCTGAATCTTCCTCCAG 0.390 19 65 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11038813 11038814 + RNA INS - - T rs144107885 by1000genomes TCGA-MG-AAMC-01A-11D-A41K-08 TCGA-MG-AAMC-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx def5beb7-82b8-4e1d-b7ba-6af748d690cb c0828412-45cb-4358-b5e6-d0e1543d9cf0 g.chr21:11038813_11038814insT ENST00000470054.1 - 0 1389_1390 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGACTGAGATGTAAGTTGTTGG 0.446 7 253 --- --- --- ---