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 GAB3 139716 broad.mit.edu 37 X 153927719 153927719 + Missense_Mutation SNP G G A TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chrX:153927719G>A ENST00000369575.3 - 6 1223 c.1192C>T c.(1192-1194)Ccc>Tcc p.P398S GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Missense_Mutation_p.P399S NM_001081573.1|NM_080612.2 NP_001075042.1|NP_542179.1 Q8WWW8 GAB3_HUMAN GRB2-associated binding protein 3 398 NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1) 25 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CCAGCCTGGGGGCTCATGGGC 0.552000 5 68 0 0 0.184627 0 0 NPIPA5 100288332 broad.mit.edu 37 16 15457701 15457701 + Missense_Mutation SNP G G A TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr16:15457701G>A ENST00000360151.4 - 8 867 c.868C>T c.(868-870)Ctc>Ttc p.L290F NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 p.L290F(2) AGGGGAGTGAGCAGACACTCG 0.562000 4 84 0 0 0.184627 0 0 TAC1 6863 broad.mit.edu 37 7 97363056 97363056 + Missense_Mutation SNP G G C TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr7:97363056G>C ENST00000319273.5 + 3 442 c.145G>C c.(145-147)Gag>Cag p.E49Q TAC1_ENST00000346867.4_Missense_Mutation_p.E49Q|TAC1_ENST00000350485.4_Missense_Mutation_p.E49Q NM_003182.2 NP_003173.1 P20366 TKN1_HUMAN tachykinin, precursor 1 49 detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway extracellular space large_intestine(4)|lung(6)|urinary_tract(1) 11 all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384) Bacitracin(DB00626) GGAGCCCTTTGAGCATCTTCT 0.597000 12 70 0 0 0.411799 0 0 CHST2 9435 broad.mit.edu 37 3 142840289 142840289 + Missense_Mutation SNP T T G TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr3:142840289T>G ENST00000309575.3 + 2 2015 c.631T>G c.(631-633)Tcc>Gcc p.S211A NM_004267.4 NP_004258.2 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 211 inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2) 22 GGACGCCGTTTCCCTGCAGGG 0.602000 14 123 0 0 0.457914 0 0 OR6C75 390323 broad.mit.edu 37 12 55759683 55759683 + Silent SNP A A G TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr12:55759683A>G ENST00000343399.3 + 1 789 c.789A>G c.(787-789)agA>agG p.R263R NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 CTTCTGCCAGAGAAAGGGTGA 0.423000 10 91 0 0 0.411799 0 0 LOC645752 645752 broad.mit.edu 37 15 78217315 78217315 + RNA SNP T T C rs2004373 by1000genomes TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr15:78217315T>C ENST00000567226.1 - 0 187 AGTGGTTGTCTCAGGGCTACT 0.527000 3 69 0 0 0.115264 0 0 RASGEF1B 153020 broad.mit.edu 37 4 82355860 82355860 + Missense_Mutation SNP A A C TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr4:82355860A>C ENST00000509081.1 - 11 1351 c.1130T>G c.(1129-1131)aTc>aGc p.I377S RASGEF1B_ENST00000264400.2_Missense_Mutation_p.I378S|RASGEF1B_ENST00000335927.7_Missense_Mutation_p.I336S Q0VAM2 RGF1B_HUMAN RasGEF domain family, member 1B 378 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 26 AATATCTTTGATTAAGAGACT 0.363000 3 25 0 0 0.115264 0 0 OR8K1 390157 broad.mit.edu 37 11 56113847 56113847 + Missense_Mutation SNP G G T TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr11:56113847G>T ENST00000279783.2 + 1 427 c.333G>T c.(331-333)gaG>gaT p.E111D NM_001002907.1 NP_001002907.1 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, member 1 111 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Esophageal squamous(21;0.00448) CATTCTTTGAGATTTTCATCA 0.408000 HNSCC(65;0.19) 32 279 1.36615e-20 1.90285e-20 0.769981 1 0 CDH5 1003 broad.mit.edu 37 16 66420782 66420782 + Missense_Mutation SNP G G T TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr16:66420782G>T ENST00000341529.3 + 3 429 c.281G>T c.(280-282)cGg>cTg p.R94L CDH5_ENST00000563425.2_Missense_Mutation_p.R94L NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 94 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) AAGGTCTTCCGGGTCGATGCA 0.517000 3 40 0.115264 0.124869 0.115264 1 0 OR2T6 254879 broad.mit.edu 37 1 248551308 248551308 + Silent SNP T T C TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr1:248551308T>C ENST00000355728.2 + 1 399 c.399T>C c.(397-399)ccT>ccC p.P133P NM_001005471.1 NP_001005471.1 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, member 6 133 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGCGCTATCCTGTCCTCATCA 0.567000 5 70 0 0 0.184627 0 0 CMTR2 55783 broad.mit.edu 37 16 71318686 71318686 + Missense_Mutation SNP G G A TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr16:71318686G>A ENST00000338099.5 - 3 1474 c.1138C>T c.(1138-1140)Cgt>Tgt p.R380C FTSJD1_ENST00000434935.2_Missense_Mutation_p.R380C Q8IYT2 FTSJ1_HUMAN 380 integral to membrane methyltransferase activity|nucleic acid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TCAAATAGACGAATGTTTTCA 0.328000 6 43 0 0 0.217242 0 0 LINC00969 440993 broad.mit.edu 37 3 195395402 195395402 + RNA SNP C C A rs149044725 by1000genomes TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr3:195395402C>A ENST00000445430.1 + 0 809 TACGGGCGCACCTACTTGAGC 0.597000 5 42 0.00621372 0.0071275 0.335167 1 0 EEF1A1 1915 broad.mit.edu 37 6 74228192 74228192 + Missense_Mutation SNP C C A TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr6:74228192C>A ENST00000316292.9 - 5 1905 c.914G>T c.(913-915)gGg>gTg p.G305V EEF1A1_ENST00000309268.6_Missense_Mutation_p.G305V|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Missense_Mutation_p.G305V NM_001402.5 NP_001393.1 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 1 305 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3) 18 CACATTGTCCCCAGGAAGAGC 0.483000 OREG0003895 type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 4 59 0.00198382 0.00234451 0.248553 1 0 VWF 7450 broad.mit.edu 37 12 6161870 6161870 + Silent SNP C C T TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr12:6161870C>T ENST00000261405.5 - 16 2279 c.2025G>A c.(2023-2025)ccG>ccA p.P675P NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 675 TIL 2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) ATTCCTCATCCGGGTAAGAGA 0.622000 5 43 0 0 0.217242 0 0 GPR17 2840 broad.mit.edu 37 2 128408751 128408751 + Missense_Mutation SNP G G A TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr2:128408751G>A ENST00000544369.1 + 4 1137 c.526G>A c.(526-528)Gca>Aca p.A176T GPR17_ENST00000486700.1_3'UTR|GPR17_ENST00000272644.3_Missense_Mutation_p.A176T|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000393018.3_Missense_Mutation_p.A176T|LIMS2_ENST00000409808.2_Intron NM_001161415.1 NP_001154887.1 Q13304 GPR17_HUMAN G protein-coupled receptor 17 176 integral to plasma membrane chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1) 19 Colorectal(110;0.1) Ovarian(717;0.15) BRCA - Breast invasive adenocarcinoma(221;0.0677) GCCCCTCTACGCACACCTGGC 0.642000 13 124 0 0 0.457914 0 0 GPR149 344758 broad.mit.edu 37 3 154056047 154056047 + Missense_Mutation SNP G G A TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr3:154056047G>A ENST00000389740.2 - 4 1736 c.1637C>T c.(1636-1638)gCc>gTc p.A546V NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 546 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) AATGGCAAGGGCATAACCGGA 0.438000 5 170 0 0 0.184627 0 0 ELMO3 79767 broad.mit.edu 37 16 67237658 67237658 + Missense_Mutation SNP A A T TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr16:67237658A>T ENST00000393997.2 + 20 2257 c.2200A>T c.(2200-2202)Atg>Ttg p.M734L ELMO3_ENST00000477898.1_Missense_Mutation_p.M568L|ELMO3_ENST00000360833.1_Missense_Mutation_p.M717L NM_024712.3 NP_078988.2 Q96BJ8 ELMO3_HUMAN engulfment and cell motility 3 681 apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) GCTGCTGACCATGGAGACCAA 0.642000 3 22 0 0 0.115264 0 0 TICAM1 148022 broad.mit.edu 37 19 4816506 4816506 + Silent SNP C C A TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr19:4816506C>A ENST00000248244.5 - 2 2113 c.1884G>T c.(1882-1884)ccG>ccT p.P628P NM_182919.3 NP_891549.1 Q8IUC6 TCAM1_HUMAN toll-like receptor adaptor molecule 1 628 Pro-rich.|Sufficient to induce apoptosis. apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein kinase binding|signal transducer activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GTGGCGGCTGCGGGCACCCCG 0.711000 5 22 0.0215528 0.0240159 0.217242 1 0 SNTG1 54212 broad.mit.edu 37 8 51569552 51569552 + Missense_Mutation SNP G G T TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr8:51569552G>T ENST00000522124.1 + 14 1594 c.933G>T c.(931-933)agG>agT p.R311S SNTG1_ENST00000276467.5_Missense_Mutation_p.R311S|SNTG1_ENST00000518864.1_Missense_Mutation_p.R311S|SNTG1_ENST00000517473.1_Missense_Mutation_p.R311S NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 311 PH. cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) TGGCCCTGAGGGGCTCATGTC 0.483000 9 88 3.86212e-05 5.19388e-05 0.361761 1 0 ABCA12 26154 broad.mit.edu 37 2 215820033 215820033 + Nonsense_Mutation SNP C C A TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr2:215820033C>A ENST00000272895.7 - 43 6505 c.6286G>T c.(6286-6288)Gga>Tga p.G2096* ABCA12_ENST00000389661.4_Nonsense_Mutation_p.G1778*|AC072062.1_ENST00000607412.1_RNA NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 2096 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) AAGGCCATTCCTGTTTCATGG 0.418000 4 90 0.150653 0.158797 0.150653 1 0 TMEM190 147744 broad.mit.edu 37 19 55889522 55889522 + Missense_Mutation SNP A A G TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr19:55889522A>G ENST00000291934.3 + 5 503 c.485A>G c.(484-486)gAa>gGa p.E162G NM_139172.1 NP_631911.1 Q8WZ59 TM190_HUMAN transmembrane protein 190 162 integral to membrane large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 5 Breast(117;0.191) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) accgagggggaagggacggag 0.637000 7 52 0 0 0.278610 0 0 ARNTL 406 broad.mit.edu 37 11 13387083 13387083 + Silent SNP C C A TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr11:13387083C>A ENST00000389708.3 + 10 851 c.496C>A c.(496-498)Cga>Aga p.R166R ARNTL_ENST00000396441.3_Silent_p.R166R|ARNTL_ENST00000497429.1_3'UTR|ARNTL_ENST00000403290.1_Silent_p.R166R|ARNTL_ENST00000401424.1_Silent_p.R123R|ARNTL_ENST00000403482.3_Silent_p.R164R|ARNTL_ENST00000361003.4_Silent_p.R166R|ARNTL_ENST00000389707.4_Silent_p.R166R|ARNTL_ENST00000403510.3_Silent_p.R123R O00327 BMAL1_HUMAN aryl hydrocarbon receptor nuclear translocator-like 166 PAS 1. circadian rhythm|positive regulation of transcription from RNA polymerase II promoter transcription factor complex aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1) 20 Epithelial(150;0.0243) AGGATGTGACCGAGGGAAGAT 0.433000 3 83 0.000602214 0.000757625 0.184627 1 0 SEPT2 4735 broad.mit.edu 37 2 242277165 242277165 + Missense_Mutation SNP A A C TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr2:242277165A>C ENST00000391973.2 + 7 1082 c.554A>C c.(553-555)gAc>gCc p.D185A SEPT2_ENST00000407971.1_Missense_Mutation_p.D145A|SEPT2_ENST00000401990.1_Missense_Mutation_p.D195A|SEPT2_ENST00000360051.3_Missense_Mutation_p.D185A|SEPT2_ENST00000391971.2_Missense_Mutation_p.D185A|SEPT2_ENST00000402092.2_Missense_Mutation_p.D185A NM_006155.1 NP_006146.1 Q15019 SEPT2_HUMAN septin 2 185 cell division|mitosis actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle GTP binding central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889) GCAAAAGCTGACACTCTCACC 0.498000 6 85 0 0 0.278610 0 0 TM4SF20 79853 broad.mit.edu 37 2 228235653 228235653 + Missense_Mutation SNP G G A rs138005777 TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr2:228235653G>A ENST00000304568.3 - 2 264 c.227C>T c.(226-228)gCg>gTg p.A76V NM_024795.3 NP_079071.2 Q53R12 T4S20_HUMAN transmembrane 4 L six family member 20 76 integral to membrane|plasma membrane p.A76V(1) breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2) 10 Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248) Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115) GTTGCAGCACGCTCTTTTTCT 0.428000 52 463 0 0 0.870114 0 0 MYH8 4626 broad.mit.edu 37 17 10297708 10297708 + Missense_Mutation SNP G G A TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr17:10297708G>A ENST00000403437.2 - 35 5118 c.5024C>T c.(5023-5025)gCa>gTa p.A1675V CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1675 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CTCCACAATTGCCAGCTGTTC 0.542000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 9 65 0 0 0.361761 0 0 HELZ2 85441 broad.mit.edu 37 20 62194306 62194306 + Missense_Mutation SNP C C T TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr20:62194306C>T ENST00000467148.1 - 8 5938 c.5869G>A c.(5869-5871)Gcg>Acg p.A1957T HELZ2_ENST00000427522.2_Missense_Mutation_p.A1388T NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator TCGGCAACCGCGCCGGTGGCC 0.687000 5 4 0 0 0.184627 0 0 GPNMB 10457 broad.mit.edu 37 7 23313757 23313757 + Missense_Mutation SNP C C T TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr7:23313757C>T ENST00000258733.4 + 11 1892 c.1597C>T c.(1597-1599)Ctc>Ttc p.L533F GPNMB_ENST00000381990.2_Missense_Mutation_p.L545F|GPNMB_ENST00000539136.1_Missense_Mutation_p.L434F|GPNMB_ENST00000453162.2_Missense_Mutation_p.L487F|GPNMB_ENST00000478451.1_3'UTR Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb 545 negative regulation of cell proliferation melanosome breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2) 41 GBM - Glioblastoma multiforme(13;0.154) GAGTGTCTTTCTCAACCGTGC 0.403000 6 99 0 0 0.248553 0 0 GIGYF2 26058 broad.mit.edu 37 2 233675977 233675977 + Missense_Mutation SNP C C T TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr2:233675977C>T ENST00000373566.3 + 18 2185 c.1988C>T c.(1987-1989)gCc>gTc p.A663V GIGYF2_ENST00000409480.1_Missense_Mutation_p.A663V|GIGYF2_ENST00000409547.1_Missense_Mutation_p.A641V|GIGYF2_ENST00000452341.2_Missense_Mutation_p.A472V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.A662V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.A635V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.A641V Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 641 Gln-rich. cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) CAGGTTTTGGCCCAACAGCAG 0.428000 3 43 0 0 0.115264 0 0 SPATA16 83893 broad.mit.edu 37 3 172835272 172835272 + Missense_Mutation SNP G G A rs144256069 by1000genomes TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr3:172835272G>A ENST00000351008.3 - 2 433 c.250C>T c.(250-252)Cgg>Tgg p.R84W NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 84 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) TCTGCCTTCCGTTTAAAGGCT 0.398000 12 268 0 0 0.435327 0 0 LINC00969 440993 broad.mit.edu 37 3 195395399 195395399 + RNA SNP G G A rs62287990 by1000genomes TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr3:195395399G>A ENST00000445430.1 + 0 806 GGCTACGGGCGCACCTACTTG 0.607000 5 42 0 0 0.335167 0 0 POTEF 728378 broad.mit.edu 37 2 130832473 130832473 + Missense_Mutation SNP C C T TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr2:130832473C>T ENST00000357462.5 - 15 2665 c.2572G>A c.(2572-2574)Ggg>Agg p.G858R POTEF_ENST00000409914.2_Missense_Mutation_p.G858R A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 858 Actin-like. cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 TGGGTGACCCCGTCACCAGAG 0.607000 8 78 0 0 0.307466 0 0 MUC2 4583 broad.mit.edu 37 11 1092904 1092904 + Missense_Mutation SNP C C A TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr11:1092904C>A ENST00000441003.2 + 30 4750 c.4723C>A c.(4723-4725)Ccc>Acc p.P1575T MUC2_ENST00000359061.5_Missense_Mutation_p.P1576T|MUC2_ENST00000361558.6_Intron NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 1578 Approximate repeats. inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) aaccccaacacccaccggcac 0.642000 2 2 0.0016 0.00195 0.115264 1 0 TRO 7216 broad.mit.edu 37 X 54955458 54955458 + Silent SNP C C T TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chrX:54955458C>T ENST00000173898.7 + 12 2413 c.2301C>T c.(2299-2301)gcC>gcT p.A767A TRO_ENST00000319167.8_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Silent_p.A370A|TRO_ENST00000420798.2_Silent_p.A298A NM_001039705.1 NP_001034794.1 Q12816 TROP_HUMAN trophinin 767 62 X 10 AA approximate tandem repeats. embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 GCACCAGTGCCAGCTTCAGCA 0.542000 7 41 0 0 0.248553 0 0 ARID1A 8289 broad.mit.edu 37 1 27105895 27105896 + Frame_Shift_Ins INS - - A TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr1:27105895_27105896insA ENST00000324856.7 + 20 5877_5878 c.5506_5507insA c.(5506-5508)gttfs p.V1836fs ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.V1619fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.V164fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.V1453fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1836 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) GCGTGTGCAGGAGTTTGACAGT 0.535 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 7 100 --- --- --- --- BAP1 8314 broad.mit.edu 37 3 52437530 52437533 + Frame_Shift_Del DEL ATGC ATGC - TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr3:52437530_52437533delATGC ENST00000460680.1 - 13 2099_2102 c.1628_1631delGCAT c.(1627-1632)tafs p.CI543fs BAP1_ENST00000296288.5_Frame_Shift_Del_p.CI525fs NM_004656.2 NP_004647.1 Q92560 BAP1_HUMAN BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) 543 monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2) 180 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) GTTGTAGCGTATGCAGTCAACACG 0.618 """N, Mis, F, S, O""" """uveal melanoma, breast, NSCLC, RCC""" """mesothelioma, uveal melanoma""" 9 75 --- --- --- --- BTNL9 153579 broad.mit.edu 37 5 180486849 180486849 + Frame_Shift_Del DEL T T - TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr5:180486849delT ENST00000327705.9 + 11 1826 c.1595delT c.(1594-1596)cgfs p.L532fs BTNL9_ENST00000376842.3_Frame_Shift_Del_p.L533fs NM_152547.4 NP_689760.2 Q6UXG8 BTNL9_HUMAN butyrophilin-like 9 532 integral to membrane breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1) 19 all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GACCCCGCCCTGGACTGGTGG 0.711 2 4 --- --- --- --- NSUN5P1 155400 broad.mit.edu 37 7 75045497 75045497 + RNA DEL G G - TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr7:75045497delG ENST00000393633.2 + 0 4280 large_intestine(1)|lung(1) 2 GGGTCGTGGAGGGGGGGGATG 0.657 2 4 --- --- --- --- FRMPD2 143162 broad.mit.edu 37 10 49379224 49379224 + Frame_Shift_Del DEL T T - TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr10:49379224delT ENST00000374201.3 - 26 3553 c.3251delA c.(3250-3252)agfs p.K1084fs FRMPD2_ENST00000407470.4_Frame_Shift_Del_p.K1052fs|FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000474573.1_Frame_Shift_Del_p.K36fs|FRMPD2_ENST00000305531.3_Frame_Shift_Del_p.K1059fs NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 1084 PDZ 3. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) ATTGGCATTCTTTTTTAGTTT 0.398 4 2 --- --- --- --- POU4F1 5457 broad.mit.edu 37 13 79176484 79176486 + In_Frame_Del DEL TGG TGG - TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr13:79176484_79176486delTGG ENST00000377208.5 - 2 535_537 c.324_326delCCA c.(322-327)cag>ca p.HQ108del RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000607205.1_RNA NM_006237.3 NP_006228.3 Q01851 PO4F1_HUMAN POU class 4 homeobox 1 108 Poly-His. axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.H108delH(1) central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1) 16 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.129) TTCGAGCGCCtggtggtggtggt 0.729 2 4 --- --- --- --- IGHV3-23 28442 broad.mit.edu 37 14 106725714 106725715 + RNA INS - - G TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr14:106725714_106725715insG ENST00000390609.2 - 0 18_19 ATCCCAGGGCTGGGCTCCTCTC 0.500 7 55 --- --- --- --- ZNF559 84527 broad.mit.edu 37 19 9452027 9452028 + Frame_Shift_Del DEL CT CT - rs55837495 TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr19:9452027_9452028delCT ENST00000592504.1 + 6 665_666 c.410_411delCT c.(409-411)afs p.T137fs ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000592896.1_Intron|ZNF559_ENST00000393883.2_Intron|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000587557.1_Intron|ZNF559_ENST00000603380.1_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000585352.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Intron|ZNF559_ENST00000317221.7_Intron Q9BR84 ZN559_HUMAN zinc finger protein 559 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1) 26 TTGACAAACACTCTAAACATCC 0.347 2 4 --- --- --- --- U2AF2 11338 broad.mit.edu 37 19 56185302 56185302 + Frame_Shift_Del DEL C C - TCGA-CW-6097-01A-11D-1669-08 TCGA-CW-6097-11A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3cfe810-7b8c-4c3e-a49a-eea4d1ae9533 c3a6d147-8cb9-4088-b340-278ccad97903 g.chr19:56185302delC ENST00000450554.2 + 12 2243 c.1284delC c.(1282-1284)atfs p.I428fs CTD-2537I9.12_ENST00000585940.1_RNA|CTD-2537I9.12_ENST00000589456.1_RNA|U2AF2_ENST00000308924.4_Frame_Shift_Del_p.I432fs|U2AF2_ENST00000590551.1_Frame_Shift_Del_p.I264fs NM_001012478.1|NM_007279.2 NP_001012496.1|NP_009210.1 P26368 U2AF2_HUMAN U2 small nuclear RNA auxiliary factor 2 432 RRM 3. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2) 21 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) CCCCACAGATCTTTGTGGAGT 0.567 12 104 --- --- --- ---