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 SCMH1 22955 broad.mit.edu 37 1 41503177 41503177 + Missense_Mutation SNP G G A TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr1:41503177G>A ENST00000402904.2 - 13 1873 c.1505C>T c.(1504-1506)tCc>tTc p.S502F SCMH1_ENST00000456518.2_Missense_Mutation_p.S344F|SCMH1_ENST00000397171.2_Missense_Mutation_p.S441F|SCMH1_ENST00000397174.2_Missense_Mutation_p.S482F|SCMH1_ENST00000372596.1_Missense_Mutation_p.S441F|SCMH1_ENST00000372597.1_Missense_Mutation_p.S455F|SCMH1_ENST00000361705.3_Missense_Mutation_p.S455F|SCMH1_ENST00000361191.5_Missense_Mutation_p.S441F|SCMH1_ENST00000372595.1_Missense_Mutation_p.S441F|SCMH1_ENST00000337495.5_Missense_Mutation_p.S512F|SCMH1_ENST00000326197.7_Missense_Mutation_p.S502F NM_001031694.2 NP_001026864.1 Q96GD3 SCMH1_HUMAN sex comb on midleg homolog 1 (Drosophila) 502 anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162) Myeloproliferative disorder(586;0.0393) TGGTTCCAAGGAGCGGGCCAG 0.532000 24 80 0 0 1 0 0 RIPK3 11035 broad.mit.edu 37 14 24806111 24806111 + Missense_Mutation SNP G G A TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr14:24806111G>A ENST00000216274.5 - 9 1534 c.1316C>T c.(1315-1317)cCg>cTg p.P439L RP11-934B9.3_ENST00000555591.1_Missense_Mutation_p.P113L NM_006871.3 NP_006862.2 Q9Y572 RIPK3_HUMAN receptor-interacting serine-threonine kinase 3 439 apoptosis|induction of apoptosis by extracellular signals cytoplasm ATP binding|protein binding|transcription coactivator activity NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GBM - Glioblastoma multiforme(265;0.0181) ATTTGGCTCCGGGGTCCTGCA 0.537000 29 73 0 0 1 0 0 PTPRH 5794 broad.mit.edu 37 19 55693512 55693512 + Missense_Mutation SNP C C T TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr19:55693512C>T ENST00000376350.3 - 19 3092 c.3070G>A c.(3070-3072)Gtg>Atg p.V1024M PTPRH_ENST00000263434.5_Missense_Mutation_p.V846M NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 1024 Tyrosine-protein phosphatase. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) GTGCGACCCACGCCAGCACTA 0.587000 17 64 0 0 1 0 0 RHOBTB3 22836 broad.mit.edu 37 5 95067675 95067675 + Nonsense_Mutation SNP G G T TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr5:95067675G>T ENST00000379982.3 + 2 623 c.115G>T c.(115-117)Gag>Tag p.E39* RHOBTB3_ENST00000515852.1_3'UTR|CTD-2154I11.2_ENST00000513235.1_RNA|CTD-2154I11.2_ENST00000512486.1_RNA|RHOBTB3_ENST00000506817.1_Nonsense_Mutation_p.E39* NM_014899.3 NP_055714.3 O94955 RHBT3_HUMAN Rho-related BTB domain containing 3 39 Rho-like. retrograde transport, endosome to Golgi Golgi apparatus ATP binding|ATPase activity|Rab GTPase binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1) 16 all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.79e-16) CTCCGGGGACGAGAGCAGCTT 0.642000 3 36 0.00909568 0.00909568 1 1 0 MIR519A2 0 broad.mit.edu 37 19 54265626 54265626 + RNA SNP C C T rs142071806 by1000genomes TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr19:54265626C>T ENST00000384990.1 + 0 29 NR_030222.1 TACAGGGAAGCGCTTTCTGTT 0.408000 27 115 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43817506 43817506 + Missense_Mutation SNP A A G TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr15:43817506A>G ENST00000382031.1 + 5 4580 c.4549A>G c.(4549-4551)Atc>Gtc p.I1517V MAP1A_ENST00000399453.1_Missense_Mutation_p.I1279V|MAP1A_ENST00000300231.5_Missense_Mutation_p.I1279V P78559 MAP1A_HUMAN microtubule-associated protein 1A 1279 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) ACAGACAGACATCACAGATGA 0.542000 4 39 0 0 1 0 0 PKNOX1 5316 broad.mit.edu 37 21 44433259 44433259 + Nonsense_Mutation SNP C C T TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr21:44433259C>T ENST00000291547.5 + 5 644 c.433C>T c.(433-435)Cga>Tga p.R145* PKNOX1_ENST00000432907.2_Nonsense_Mutation_p.R28* NM_004571.3 NP_004562.2 P55347 PKNX1_HUMAN PBX/knotted 1 homeobox 1 145 sequence-specific DNA binding cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1) 22 TTTCTGCAGTCGATACATTGC 0.428000 18 87 0 0 1 0 0 EPX 8288 broad.mit.edu 37 17 56274319 56274319 + Missense_Mutation SNP G G A TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr17:56274319G>A ENST00000225371.5 + 7 931 c.821G>A c.(820-822)cGc>cAc p.R274H NM_000502.4 NP_000493.1 P11678 PERE_HUMAN eosinophil peroxidase 274 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 48 AATGACCCCCGCATCAAGAAC 0.567000 4 82 0 0 1 0 0 LILRB3 11025 broad.mit.edu 37 19 54721088 54721088 + Silent SNP G G T TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr19:54721088G>T ENST00000391750.1 - 14 1906 c.1770C>A c.(1768-1770)tcC>tcA p.S590S LILRB3_ENST00000424807.1_Silent_p.S590S|LILRA6_ENST00000419410.2_Silent_p.S591S|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000245620.9_Silent_p.S591S|LILRA6_ENST00000270464.5_Silent_p.S591S|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_Silent_p.S607S|LILRB3_ENST00000346401.6_Silent_p.S602S|LILRA6_ENST00000440558.2_Silent_p.S590S O75022 LIRB3_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 590 cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 34 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCACATCCTGGGAGGCTTCAG 0.637000 14 45 1.5842e-08 1.71094e-08 1 1 0 ZMIZ1 57178 broad.mit.edu 37 10 81065297 81065297 + Missense_Mutation SNP G G A TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr10:81065297G>A ENST00000334512.5 + 21 2934 c.2362G>A c.(2362-2364)Gct>Act p.A788T NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 788 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CAGTAAAACCGCTCTGCTGGA 0.617000 18 96 0 0 1 0 0 PCDHGA12 0 broad.mit.edu 37 5 140810551 140810551 + Silent SNP C C T TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr5:140810551C>T ENST00000252085.3 + 1 367 c.225C>T c.(223-225)ttC>ttT p.F75F PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCAGCTTTTCGCCCTGAATC 0.632000 20 76 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109365442 109365442 + Missense_Mutation SNP C C T TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr2:109365442C>T ENST00000283195.6 + 9 1256 c.1130C>T c.(1129-1131)gCc>gTc p.A377V NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 377 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 GAAACTTTTGCCAACAAAAGC 0.348000 5 301 0 0 1 0 0 UGGT1 56886 broad.mit.edu 37 2 128917179 128917179 + Missense_Mutation SNP C C T TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr2:128917179C>T ENST00000375990.3 + 23 2778 c.2375C>T c.(2374-2376)gCa>gTa p.A792V UGGT1_ENST00000259253.6_Missense_Mutation_p.A816V Q9NYU2 UGGG1_HUMAN UDP-glucose glycoprotein glucosyltransferase 1 816 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 GCAATCTGGGCAGCTCTCCAA 0.478000 16 63 0 0 1 0 0 ZNF407 55628 broad.mit.edu 37 18 72344424 72344424 + Silent SNP C C T TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr18:72344424C>T ENST00000299687.5 + 1 1449 c.1449C>T c.(1447-1449)tgC>tgT p.C483C ZNF407_ENST00000577538.1_Silent_p.C483C|ZNF407_ENST00000309902.6_Silent_p.C483C|ZNF407_ENST00000582337.1_Silent_p.C483C NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 483 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) TGGAAGCGTGCAGCAGTGTGC 0.527000 6 33 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152453342 152453342 + Missense_Mutation SNP G G A TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr6:152453342G>A ENST00000367255.5 - 144 26610 c.26009C>T c.(26008-26010)tCt>tTt p.S8670F SYNE1_ENST00000423061.1_Missense_Mutation_p.S8622F|SYNE1_ENST00000356820.4_Missense_Mutation_p.S3194F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S8670F|SYNE1_ENST00000354674.4_Missense_Mutation_p.S848F|SYNE1_ENST00000341594.5_Missense_Mutation_p.S8282F|SYNE1_ENST00000539504.1_Missense_Mutation_p.S825F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S8622F|SYNE1_ENST00000347037.5_5'UTR NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8670 Ser-rich. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGACCAGGAAGACAAATCCTA 0.512000 HNSCC(10;0.0054) 24 86 0 0 1 0 0 TSC2 7249 broad.mit.edu 37 16 2121840 2121840 + Missense_Mutation SNP G G T TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr16:2121840G>T ENST00000219476.3 + 19 2632 c.2002G>T c.(2002-2004)Ggg>Tgg p.G668W TSC2_ENST00000382538.6_Missense_Mutation_p.G619W|TSC2_ENST00000401874.2_Missense_Mutation_p.G668W|TSC2_ENST00000568454.1_Missense_Mutation_p.G679W|TSC2_ENST00000439673.2_Missense_Mutation_p.G631W|TSC2_ENST00000350773.4_Missense_Mutation_p.G668W|TSC2_ENST00000353929.4_Missense_Mutation_p.G668W NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 668 cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) TCCTCCCACAGGGCCTCCTGG 0.677000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 4 7 0.00909568 0.00909568 1 1 0 SETX 23064 broad.mit.edu 37 9 135153581 135153581 + Missense_Mutation SNP T T G TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr9:135153581T>G ENST00000372169.2 - 21 6900 c.6718A>C c.(6718-6720)Aat>Cat p.N2240H SETX_ENST00000393220.1_Missense_Mutation_p.N2240H|SETX_ENST00000224140.5_Missense_Mutation_p.N2240H Q7Z333 SETX_HUMAN senataxin 2240 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) TGTTCTACATTCTCTTCCAGC 0.453000 16 77 0 0 1 0 0 WFS1 7466 broad.mit.edu 37 4 6302392 6302392 + Silent SNP G G A TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr4:6302392G>A ENST00000226760.1 + 8 1040 c.870G>A c.(868-870)aaG>aaA p.K290K WFS1_ENST00000503569.1_Silent_p.K290K NM_001145853.1|NM_006005.3 NP_001139325.1|NP_005996.2 O76024 WFS1_HUMAN Wolfram syndrome 1 (wolframin) 290 endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 21 Colorectal(103;0.0512) AGGTGGTCAAGTACCCCCTGC 0.617000 11 19 0 0 1 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 161984 161984 + Silent SNP C C T TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr5:161984C>T ENST00000283426.6 + 10 1556 c.1506C>T c.(1504-1506)agC>agT p.S502S NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 502 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity p.S502S(1) endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) GGGGCCTGAGCGCCGTGGTCA 0.612000 9 24 0 0 1 0 0 SSX3 10214 broad.mit.edu 37 X 48207020 48207020 + Missense_Mutation SNP A A T TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chrX:48207020A>T ENST00000298396.2 - 7 538 c.486T>A c.(484-486)caT>caA p.H162Q SSX3_ENST00000376895.1_Missense_Mutation_p.H74Q NM_021014.2 NP_066294.1 Q99909 SSX3_HUMAN synovial sarcoma, X breakpoint 3 162 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|large_intestine(1)|lung(9) 13 GGGTCCAGGCATGTTCCCCCC 0.478000 66 112 0 0 1 0 0 HPS5 11234 broad.mit.edu 37 11 18303529 18303529 + Missense_Mutation SNP G G C rs139039126 byFrequency TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr11:18303529G>C ENST00000396253.3 - 21 3417 c.2955C>G c.(2953-2955)tgC>tgG p.C985W HPS5_ENST00000349215.3_Missense_Mutation_p.C1099W|HPS5_ENST00000537258.1_Missense_Mutation_p.C206W|HPS5_ENST00000438420.2_Missense_Mutation_p.C985W|HPS5_ENST00000352460.3_5'UTR NM_007216.3 NP_009147.3 Q9UPZ3 HPS5_HUMAN Hermansky-Pudlak syndrome 5 1099 cytosol breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 TCAGGATATCGCAGGTTCTGG 0.498000 Hermansky-Pudlak syndrome 17 71 0 0 1 0 0 LRRC8B 23507 broad.mit.edu 37 1 90058514 90058514 + Missense_Mutation SNP G G C TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr1:90058514G>C ENST00000330947.2 + 6 2684 c.2324G>C c.(2323-2325)cGg>cCg p.R775P RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Missense_Mutation_p.R775P|LRRC8B_ENST00000439853.1_Missense_Mutation_p.R775P NM_001134476.1 NP_001127948.1 Q6P9F7 LRC8B_HUMAN leucine rich repeat containing 8 family, member B 775 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 26 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) TCCCTAAAACGGAACTGTCTG 0.433000 22 81 0 0 1 0 0 TTI1 9675 broad.mit.edu 37 20 36627645 36627645 + Missense_Mutation SNP G G A TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr20:36627645G>A ENST00000373448.2 - 6 2976 c.2738C>T c.(2737-2739)tCg>tTg p.S913L TTI1_ENST00000449821.1_Missense_Mutation_p.S913L|TTI1_ENST00000373447.3_Missense_Mutation_p.S913L NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 913 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 GTGAACGAGCGAGGGCCAGGC 0.562000 10 43 0 0 1 0 0 SIDT2 51092 broad.mit.edu 37 11 117052521 117052521 + Splice_Site SNP A A G TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr11:117052521A>G ENST00000324225.4 + 3 836 c.e3-1 SIDT2_ENST00000530948.1_Splice_Site|SIDT2_ENST00000431081.2_Splice_Site NM_001040455.1 NP_001035545.1 Q8NBJ9 SIDT2_HUMAN SID1 transmembrane family, member 2 integral to membrane|lysosomal membrane NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 36 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;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144) TTCGGGCCATAGGTTTCAGCG 0.592000 OREG0021368 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 55 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79571813 79571813 + Silent SNP G G A TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr10:79571813G>A ENST00000372391.2 - 22 4196 c.4191C>T c.(4189-4191)ttC>ttT p.F1397F DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.F1057F NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1397 PDZ 3. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) TTATGCCGTTGAACTGGGGAA 0.647000 10 43 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 70071345 70071345 + Missense_Mutation SNP G G A TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr6:70071345G>A ENST00000370598.1 + 29 5001 c.4180G>A c.(4180-4182)Gat>Aat p.D1394N BAI3_ENST00000238918.8_Missense_Mutation_p.D600N|BAI3_ENST00000546190.1_Missense_Mutation_p.D358N NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1394 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) TGAGTTGGATGATAATGCAGG 0.403000 27 49 0 0 1 0 0 USP31 57478 broad.mit.edu 37 16 23116855 23116855 + Missense_Mutation SNP G G C TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr16:23116855G>C ENST00000219689.7 - 5 995 c.996C>G c.(994-996)caC>caG p.H332Q NM_020718.3 NP_065769.3 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 332 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) TCCTCATGCAGTGAGAACATT 0.433000 6 60 0 0 1 0 0 CA13 377677 broad.mit.edu 37 8 86163132 86163132 + Silent SNP C C T TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr8:86163132C>T ENST00000321764.3 + 2 503 c.201C>T c.(199-201)ttC>ttT p.F67F CA13_ENST00000517298.1_3'UTR NM_198584.2 NP_940986.1 Q8N1Q1 CAH13_HUMAN carbonic anhydrase XIII 67 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding p.F67F(2) large_intestine(1)|lung(6) 7 GCCATTCCTTCAATGTTGACT 0.398000 5 221 0 0 1 0 0 COX7C 1350 broad.mit.edu 37 5 85915176 85915176 + Missense_Mutation SNP C C T TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr5:85915176C>T ENST00000509578.1 + 2 182 c.82C>T c.(82-84)Cca>Tca p.P28S COX7C_ENST00000247655.3_Missense_Mutation_p.P28S|COX7C_ENST00000515763.1_Missense_Mutation_p.P28S|COX7C_ENST00000513124.1_3'UTR P15954 COX7C_HUMAN cytochrome c oxidase subunit VIIc 28 respiratory electron transport chain integral to membrane|mitochondrial inner membrane cytochrome-c oxidase activity endometrium(1)|lung(1) 2 all_cancers(142;7e-06)|Lung NSC(167;0.000601)|all_lung(232;0.000693)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;1.56e-40)|Epithelial(54;3.17e-34)|all cancers(79;3.36e-29) ACAGAATTTGCCATTTTCAGT 0.338000 4 79 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125547510 125547510 + Silent SNP A A G TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr2:125547510A>G ENST00000431078.1 + 18 3145 c.2781A>G c.(2779-2781)ctA>ctG p.L927L NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 927 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) AAGGCTTCCTAGGATGCATTC 0.463000 11 34 0 0 1 0 0 PSAT1 29968 broad.mit.edu 37 9 80923474 80923474 + Silent SNP T T C TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr9:80923474T>C ENST00000376588.3 + 6 783 c.715T>C c.(715-717)Ttg>Ctg p.L239L PSAT1_ENST00000347159.2_Silent_p.L239L NM_058179.2 NP_478059.1 Q9Y617 SERC_HUMAN phosphoserine aminotransferase 1 239 L-serine biosynthetic process|pyridoxine biosynthetic process O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 20 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165) AAACAGCTCCTTGTACAACAC 0.537000 3 59 0 0 1 0 0 ZNF471 57573 broad.mit.edu 37 19 57036932 57036932 + Missense_Mutation SNP G G T TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr19:57036932G>T ENST00000308031.5 + 5 1629 c.1496G>T c.(1495-1497)aGt>aTt p.S499I ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_Intron NM_020813.2 NP_065864.2 Q9BX82 ZN471_HUMAN zinc finger protein 471 499 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) TTTAGAATCAGTTCACAGCTG 0.378000 17 45 4.7546e-09 5.23977e-09 1 1 0 MORN4 118812 broad.mit.edu 37 10 99376049 99376049 + Missense_Mutation SNP A A T TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr10:99376049A>T ENST00000335628.3 - 4 585 c.586T>A c.(586-588)Tcc>Acc p.S196T PI4K2A_ENST00000555577.1_Intron|MORN4_ENST00000478953.1_3'UTR|PI4K2A_ENST00000370649.3_Intron|MORN4_ENST00000307450.6_Missense_Mutation_p.S138T Q8NDC4 MORN4_HUMAN MORN repeat containing 4 138 large_intestine(1)|lung(1)|stomach(2) 4 GCTGACTTGGAGGCGCTCTGG 0.532000 3 32 0 0 1 0 0 TP53BP1 7158 broad.mit.edu 37 15 43701149 43701149 + Missense_Mutation SNP C C T TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr15:43701149C>T ENST00000263801.3 - 26 5783 c.5531G>A c.(5530-5532)cGt>cAt p.R1844H TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1847H|TP53BP1_ENST00000382039.3_Missense_Mutation_p.R1799H|TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1849H NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 1844 BRCT 1. double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) CAGATAATTACGGTAGTTCTG 0.502000 Other conserved DNA damage response genes 14 67 0 0 1 0 0 IGSF11 152404 broad.mit.edu 37 3 118621499 118621499 + Silent SNP G G A TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr3:118621499G>A ENST00000354673.2 - 9 1541 c.1161C>T c.(1159-1161)agC>agT p.S387S IGSF11_ENST00000491903.1_Silent_p.S360S|IGSF11_ENST00000393775.2_Silent_p.S388S|IGSF11_ENST00000425327.2_Silent_p.S387S|IGSF11_ENST00000489689.1_Silent_p.S364S|IGSF11_ENST00000441144.2_Silent_p.S363S NM_152538.2 NP_689751.2 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 388 cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CTGAGCCATTGCTCCTGGACA 0.527000 14 40 0 0 1 0 0 ZNF420 147923 broad.mit.edu 37 19 37619569 37619569 + Missense_Mutation SNP A A G TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr19:37619569A>G ENST00000337995.3 + 5 1891 c.1676A>G c.(1675-1677)tAt>tGt p.Y559C ZNF420_ENST00000304239.7_Intron|ZNF420_ENST00000586540.1_3'UTR|ZNF585A_ENST00000588723.1_Intron NM_144689.3 NP_653290.2 Q8TAQ5 ZN420_HUMAN zinc finger protein 420 559 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GAGAAACCATATCAATGTAAG 0.418000 4 59 0 0 1 0 0 CCER1 196477 broad.mit.edu 37 12 91347894 91347894 + Missense_Mutation SNP C C T TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr12:91347894C>T ENST00000358859.2 - 1 1059 c.626G>A c.(625-627)cGt>cAt p.R209H CCER1_ENST00000548187.1_Intron NM_152638.2 NP_689851.1 coiled-coil glutamate-rich protein 1 CTCCTGCTGACGCTCCACCTT 0.647000 12 95 0 0 1 0 0 S100A8 6279 broad.mit.edu 37 1 153362588 153362588 + Missense_Mutation SNP G G T TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr1:153362588G>T ENST00000368733.3 - 3 442 c.273C>A c.(271-273)caC>caA p.H91Q S100A8_ENST00000368732.1_Missense_Mutation_p.H91Q NM_002964.4 NP_002955.2 P05109 S10A8_HUMAN S100 calcium binding protein A8 91 VAAHKKSHEESHKE -> WQPTKKAMKKATKSS (in Ref. 1; CAA68390). chemotaxis cytoplasm|cytoskeleton|plasma membrane calcium ion binding|protein binding breast(1)|endometrium(1)|lung(1)|urinary_tract(1) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) GCTACTCTTTGTGGCTTTCTT 0.468000 18 88 1.96292e-10 2.20829e-10 1 1 0 DSG4 147409 broad.mit.edu 37 18 28992796 28992796 + Silent SNP G G A TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr18:28992796G>A ENST00000359747.4 + 15 2447 c.2418G>A c.(2416-2418)gcG>gcA p.A806A RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Silent_p.A787A|RP11-534N16.1_ENST00000581856.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 787 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TTTAGAAAGCGTATGCTTATG 0.398000 16 51 0 0 1 0 0 LRIT1 26103 broad.mit.edu 37 10 85992631 85992631 + Silent SNP C C T TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr10:85992631C>T ENST00000372105.3 - 4 945 c.924G>A c.(922-924)acG>acA p.T308T NM_015613.2 NP_056428.1 Q9P2V4 LRIT1_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 308 Ig-like C2-type. integral to endoplasmic reticulum membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1) 23 GAGTCCAGCTCGTGCCGTCAC 0.572000 8 30 0 0 1 0 0 ATN1 1822 broad.mit.edu 37 12 7048124 7048124 + Missense_Mutation SNP C C G TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr12:7048124C>G ENST00000356654.4 + 7 3235 c.2998C>G c.(2998-3000)Cga>Gga p.R1000G ATN1_ENST00000396684.2_Missense_Mutation_p.R1000G NM_001007026.1 NP_001007027.1 P54259 ATN1_HUMAN atrophin 1 1000 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 GCCCCTGGAGCGAGAACGTCT 0.682000 22 84 0 0 1 0 0 CCDC27 148870 broad.mit.edu 37 1 3679746 3679746 + Frame_Shift_Del DEL G G - TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr1:3679746delG ENST00000294600.2 + 7 1113 c.1029delG c.(1027-1029)ctfs p.L343fs NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 343 Glu-rich. breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) ACGAGGGCCTGGAAGGGGAGC 0.672 2 4 --- --- --- --- RANBP2 5903 broad.mit.edu 37 2 109382805 109382805 + Frame_Shift_Del DEL T T - TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr2:109382805delT ENST00000283195.6 + 20 5936 c.5810delT c.(5809-5811)atfs p.I1937fs NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 1937 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 CGTGGTGTGATTTTTGGCCAA 0.413 7 539 --- --- --- --- PROC 5624 broad.mit.edu 37 2 128186333 128186333 + Frame_Shift_Del DEL G G - TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr2:128186333delG ENST00000453608.2 + 8 1370 c.1362delG c.(1360-1362)gafs p.E454fs PROC_ENST00000409048.1_Frame_Shift_Del_p.E433fs|PROC_ENST00000234071.3_Frame_Shift_Del_p.E399fs|PROC_ENST00000422777.3_Frame_Shift_Del_p.E399fs P04070 PROC_HUMAN protein C (inactivator of coagulation factors Va and VIIIa) 399 blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|protein binding|serine-type endopeptidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0673) Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464) ATGCCTGCGAGGGCGACAGTG 0.652 18 99 --- --- --- --- RP11-445N18.7 0 broad.mit.edu 37 10 45646972 45646972 + RNA DEL G G - TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr10:45646972delG ENST00000427229.2 + 0 1563 CTTTGGTACTGGTCATCTGGA 0.552 2 4 --- --- --- --- DPYSL4 10570 broad.mit.edu 37 10 134017305 134017305 + Frame_Shift_Del DEL G G - rs61865802 TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr10:134017305delG ENST00000338492.4 + 13 1665 c.1501delG c.(1501-1503)ggfs p.G501fs DPYSL4_ENST00000368627.1_Frame_Shift_Del_p.G341fs|DPYSL4_ENST00000368629.1_Frame_Shift_Del_p.G341fs NM_006426.2 NP_006417.2 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 501 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) ACTGTATGACGGGCCCGTCCA 0.711 14 61 --- --- --- --- C16orf71 146562 broad.mit.edu 37 16 4796953 4796955 + In_Frame_Del DEL GAG GAG - TCGA-YL-A8SK-01B-21D-A377-08 TCGA-YL-A8SK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b319c1-a436-4ade-bade-62393163aeaf 8a62da06-7d92-47d9-86fe-07676e6ac836 g.chr16:4796953_4796955delGAG ENST00000299320.5 + 8 1685_1687 c.1207_1209delGAG c.(1207-1209)del p.E409del RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_In_Frame_Del_p.E426del NM_139170.2 NP_631909.2 Q8IYS4 CP071_HUMAN chromosome 16 open reading frame 71 409 p.E403delE(1) breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1) 11 CTCTGACAGTGAGGAGGAGGAGG 0.611 2 4 --- --- --- ---