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 ITSN1 6453 broad.mit.edu 37 21 35190641 35190641 + Missense_Mutation SNP A A C TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr21:35190641A>C ENST00000381318.3 + 23 3086 c.2798A>C c.(2797-2799)aAt>aCt p.N933T ITSN1_ENST00000381285.4_Missense_Mutation_p.N933T|ITSN1_ENST00000399326.3_Missense_Mutation_p.N928T|ITSN1_ENST00000399352.1_Missense_Mutation_p.N928T|ITSN1_ENST00000381291.4_Missense_Mutation_p.N933T|ITSN1_ENST00000399355.2_Missense_Mutation_p.N933T|ITSN1_ENST00000399349.1_Missense_Mutation_p.N928T|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.N928T|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000399367.3_Missense_Mutation_p.N928T|ITSN1_ENST00000399353.1_Missense_Mutation_p.N891T NM_003024.2 NP_003015.2 Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) 933 SH3 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 AACCACTTAAATTTTAACAAA 0.453000 6 59 0 0 1 0 0 TEX13A 56157 broad.mit.edu 37 X 104464700 104464700 + Silent SNP G G T TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chrX:104464700G>T ENST00000372578.3 - 2 493 c.382C>A c.(382-384)Cgg>Agg p.R128R TEX13A_ENST00000372575.1_Silent_p.R128R|TEX13A_ENST00000413579.1_Silent_p.R128R|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron NM_031274.3 NP_112564.1 Q9BXU3 TX13A_HUMAN testis expressed 13A 128 intracellular zinc ion binding large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1) 8 ATTCTTAGCCGGGAGGCCGCC 0.592000 3 22 0.004672 0.004672 1 1 0 PIK3CD 5293 broad.mit.edu 37 1 9784114 9784114 + Silent SNP G G A TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr1:9784114G>A ENST00000536656.1 + 21 2962 c.2754G>A c.(2752-2754)cgG>cgA p.R918R PIK3CD_ENST00000361110.2_Silent_p.R918R|PIK3CD_ENST00000377346.4_Silent_p.R894R O00329 PK3CD_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta 894 PI3K/PI4K. phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) TTGGCGATCGGCACAGCGACA 0.632000 4 77 0 0 1 0 0 HSD3B7 80270 broad.mit.edu 37 16 30999231 30999231 + Silent SNP C C T TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr16:30999231C>T ENST00000297679.5 + 7 930 c.837C>T c.(835-837)tgC>tgT p.C279C HSD3B7_ENST00000353250.5_3'UTR|HSD3B7_ENST00000262520.6_3'UTR NM_025193.3 NP_079469.2 Q9H2F3 3BHS7_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 279 bile acid biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 TGGGCCCCTGCGGACTGCGGC 0.642000 4 123 0 0 1 0 0 MCCC1 56922 broad.mit.edu 37 3 182756832 182756832 + Nonsense_Mutation SNP G G T TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr3:182756832G>T ENST00000492597.1 - 11 1734 c.1032C>A c.(1030-1032)taC>taA p.Y344* MCCC1_ENST00000539926.1_Nonsense_Mutation_p.Y318*|MCCC1_ENST00000265594.4_Nonsense_Mutation_p.Y453* Q96RQ3 MCCA_HUMAN methylcrotonoyl-CoA carboxylase 1 (alpha) 453 ATP-grasp.|Biotin carboxylation. biotin metabolic process|leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2) 40 all_cancers(143;1.84e-14)|Ovarian(172;0.0355) all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21) Biotin(DB00121) GACGAAGGCTGTACCTCAGTT 0.527000 18 19 2.35188e-11 2.54003e-11 1 1 0 CDH6 1004 broad.mit.edu 37 5 31318075 31318075 + Silent SNP C C T TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr5:31318075C>T ENST00000514738.1 + 11 2191 c.1761C>T c.(1759-1761)ggC>ggT p.G587G CDH6_ENST00000265071.2_Intron P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 0 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TGGTGAGGGGCTCACACTGTT 0.522000 20 21 0 0 1 0 0 FANK1 92565 broad.mit.edu 37 10 127677139 127677139 + Missense_Mutation SNP G G C TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr10:127677139G>C ENST00000368695.1 + 3 315 c.193G>C c.(193-195)Gtt>Ctt p.V65L FANK1_ENST00000368689.1_Missense_Mutation_p.V65L|FANK1_ENST00000449042.2_Missense_Mutation_p.V65L|FANK1_ENST00000368693.1_Missense_Mutation_p.V71L NM_145235.3 NP_660278.3 Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 1 71 Fibronectin type-III. cytoplasm|nucleus central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1) 21 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) AACGAAGCATGTTGTTGAAGG 0.512000 6 113 0 0 1 0 0 TFG 10342 broad.mit.edu 37 3 100447586 100447586 + Missense_Mutation SNP G G C rs77118429 by1000genomes TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr3:100447586G>C ENST00000240851.4 + 4 639 c.299G>C c.(298-300)aGt>aCt p.S100T TFG_ENST00000490574.1_Missense_Mutation_p.S100T|TFG_ENST00000418917.2_Missense_Mutation_p.S100T|TFG_ENST00000476228.1_Missense_Mutation_p.S100T NM_001195478.1|NM_001195479.1|NM_006070.5 NP_001182407.1|NP_001182408.1|NP_006061.2 Q92734 TFG_HUMAN TRK-fused gene 100 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm signal transducer activity TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9) large_intestine(4)|lung(2)|prostate(1)|stomach(1) 8 CTTGAATCAAGTCAGGTGAAA 0.368000 T """NTRK1, ALK""" """papillary thyroid, ALCL, NSCLC""" 45 40 0 0 1 0 0 SEH1L 81929 broad.mit.edu 37 18 12955541 12955541 + Missense_Mutation SNP G G A TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr18:12955541G>A ENST00000262124.11 + 3 369 c.242G>A c.(241-243)cGa>cAa p.R81Q SEH1L_ENST00000399892.2_Missense_Mutation_p.R81Q NM_031216.3 NP_112493.2 Q96EE3 SEH1_HUMAN SEH1-like (S. cerevisiae) 81 attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 11 TCTTTTGACCGAACAGCTGCT 0.453000 3 50 0 0 1 0 0 EMILIN3 90187 broad.mit.edu 37 20 39990606 39990606 + Missense_Mutation SNP C C T TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr20:39990606C>T ENST00000332312.3 - 4 1795 c.1603G>A c.(1603-1605)Gca>Aca p.A535T NM_052846.1 NP_443078.1 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 535 proteinaceous extracellular matrix biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2) 30 Myeloproliferative disorder(115;0.00425) TTCACCTCTGCCACGAGGCTG 0.642000 7 61 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54307601 54307601 + Missense_Mutation SNP G G A TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr15:54307601G>A ENST00000545554.1 + 1 2501 c.2501G>A c.(2500-2502)cGg>cAg p.R834Q UNC13C_ENST00000260323.11_Missense_Mutation_p.R834Q|UNC13C_ENST00000537900.1_Missense_Mutation_p.R834Q Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 834 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding p.R834Q(2) breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GGGAGATTTCGGACATTATCT 0.438000 13 13 0 0 1 0 0 GOLGA4 2803 broad.mit.edu 37 3 37367122 37367122 + Missense_Mutation SNP A A G TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr3:37367122A>G ENST00000361924.2 + 14 4119 c.3745A>G c.(3745-3747)Agg>Ggg p.R1249G GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.R1271G NM_002078.4 NP_002069.2 Q13439 GOGA4_HUMAN golgin A4 1249 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 CATTCTTTCTAGGATTTCTCA 0.348000 30 46 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 6 28 0 0 1 0 0 TTC39B 158219 broad.mit.edu 37 9 15185290 15185290 + Missense_Mutation SNP G G C TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr9:15185290G>C ENST00000355694.2 - 16 1638 c.1404C>G c.(1402-1404)atC>atG p.I468M TTC39B_ENST00000507993.1_Missense_Mutation_p.I369M|TTC39B_ENST00000512701.1_Missense_Mutation_p.I534M|TTC39B_ENST00000507285.1_Missense_Mutation_p.I369M|TTC39B_ENST00000297615.5_Missense_Mutation_p.I465M|TTC39B_ENST00000380850.4_Missense_Mutation_p.I521M NM_001168339.1|NM_152574.2 NP_001161811.1|NP_689787.2 Q5VTQ0 TT39B_HUMAN tetratricopeptide repeat domain 39B 468 binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1) 21 GGGCAGGTAAGATGAGCTTCA 0.438000 5 82 0 0 1 0 0 YARS2 51067 broad.mit.edu 37 12 32903729 32903729 + Missense_Mutation SNP G G A TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr12:32903729G>A ENST00000324868.8 - 3 1054 c.1027C>T c.(1027-1029)Cgg>Tgg p.R343W NM_001040436.2 NP_001035526.1 Q9Y2Z4 SYYM_HUMAN tyrosyl-tRNA synthetase 2, mitochondrial 343 tyrosyl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 16 Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) L-Tyrosine(DB00135) TGAGGACCCCGCCTTTCTGGC 0.433000 20 21 0 0 1 0 0 ZNF711 7552 broad.mit.edu 37 X 84526039 84526039 + Silent SNP C C T TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chrX:84526039C>T ENST00000360700.4 + 10 2515 c.1629C>T c.(1627-1629)gcC>gcT p.A543A ZNF711_ENST00000542798.1_Silent_p.A339A|ZNF711_ENST00000373165.3_Silent_p.A497A|ZNF711_ENST00000395402.1_Silent_p.A505A|ZNF711_ENST00000276123.3_Silent_p.A497A Q9Y462 ZN711_HUMAN zinc finger protein 711 497 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 ATTTGTTGGCCGTTCACAGCA 0.408000 3 36 0 0 1 0 0 GLUD2 2747 broad.mit.edu 37 X 120182329 120182329 + Missense_Mutation SNP G G A TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chrX:120182329G>A ENST00000328078.1 + 1 868 c.791G>A c.(790-792)gGa>gAa p.G264E NM_012084.3 NP_036216.2 P49448 DHE4_HUMAN glutamate dehydrogenase 2 264 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1) 38 L-Glutamic Acid(DB00142)|NADH(DB00157) AGCCAAGGGGGAATCCATGGA 0.478000 32 4 0 0 1 0 0 TEX26 122046 broad.mit.edu 37 13 31531142 31531142 + Nonsense_Mutation SNP A A T TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr13:31531142A>T ENST00000380473.3 + 4 458 c.445A>T c.(445-447)Aga>Tga p.R149* TEX26_ENST00000530916.1_3'UTR NM_152325.1 NP_689538.1 Q8N6G2 CM026_HUMAN testis expressed 26 149 CCTTACTAAGAGAGACTTTGT 0.438000 24 72 0 0 1 0 0 OR4C3 256144 broad.mit.edu 37 11 48347461 48347461 + Missense_Mutation SNP G G A TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr11:48347461G>A ENST00000319856.4 + 1 990 c.969G>A c.(967-969)atG>atA p.M323I NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 AAAATGCCATGAGAAAGCTCT 0.328000 14 24 0 0 1 0 0 CYP4B1 1580 broad.mit.edu 37 1 47279929 47279929 + Missense_Mutation SNP G G A rs45578838 TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr1:47279929G>A ENST00000271153.4 + 7 857 c.821G>A c.(820-822)cGg>cAg p.R274Q CYP4B1_ENST00000371923.4_Missense_Mutation_p.R275Q|CYP4B1_ENST00000371919.4_Missense_Mutation_p.R260Q|CYP4B1_ENST00000452782.2_Missense_Mutation_p.R112Q P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, polypeptide 1 274 R -> Q (in dbSNP:rs45578838). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) GAGAAGGTGCGGAAGAAGATC 0.572000 9 14 0 0 1 0 0 TMEM178A 130733 broad.mit.edu 37 2 39893142 39893142 + Missense_Mutation SNP C C T TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr2:39893142C>T ENST00000281961.2 + 1 84 c.28C>T c.(28-30)Ctc>Ttc p.L10F TMEM178A_ENST00000482239.1_Intron NM_152390.2 NP_689603.2 transmembrane protein 178A CGTCACGGCGCTCAGCCTCGG 0.731000 7 7 0 0 1 0 0 ATP1B2 482 broad.mit.edu 37 17 7559196 7559196 + Missense_Mutation SNP C C T TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr17:7559196C>T ENST00000250111.4 + 7 1263 c.856C>T c.(856-858)Cgc>Tgc p.R286C NM_001678.3 NP_001669.3 P14415 AT1B2_HUMAN ATPase, Na+/K+ transporting, beta 2 polypeptide 286 ATP biosynthetic process|blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|sodium:potassium-exchanging ATPase activity p.0?(2)|p.R286C(1)|p.?(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1) 10 all_cancers(10;0.000178)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168) CTTCAAACTCCGCATCAACAA 0.602000 6 2 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64690055 64690055 + Missense_Mutation SNP G G A TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr14:64690055G>A ENST00000357395.3 + 113 20569 c.9425G>A c.(9424-9426)cGg>cAg p.R3142Q SYNE2_ENST00000554805.1_Missense_Mutation_p.R540Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.R6673Q|SYNE2_ENST00000555022.1_Missense_Mutation_p.R635Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.R3142Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.R6780Q|SYNE2_ENST00000344113.4_Missense_Mutation_p.R6757Q|SYNE2_ENST00000441438.2_Missense_Mutation_p.R302Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.R3414Q|SYNE2_ENST00000458046.2_Missense_Mutation_p.R428Q Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6757 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding p.R6780L(1)|p.R6780Q(1) NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AAACAGTTACGGGAGCAAGTG 0.428000 26 34 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151877201 151877201 + Nonsense_Mutation SNP A A C TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr7:151877201A>C ENST00000355193.2 - 37 7378 c.7160T>G c.(7159-7161)tTa>tGa p.L2387* KMT2C_ENST00000262189.6_Nonsense_Mutation_p.L2387* lysine (K)-specific methyltransferase 2C GATTTCACGTAACTTCTGCCG 0.443000 55 69 0 0 1 0 0 CACNG2 10369 broad.mit.edu 37 22 36960758 36960758 + Silent SNP C C T TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr22:36960758C>T ENST00000300105.6 - 4 1593 c.612G>A c.(610-612)cgG>cgA p.R204R NM_006078.3 NP_006069.1 Q9Y698 CCG2_HUMAN calcium channel, voltage-dependent, gamma subunit 2 204 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 18 GCTGTTTGTGCCGGTCGATAA 0.637000 4 165 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119903633 119903633 + Silent SNP C C G TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr9:119903633C>G ENST00000313400.4 - 4 1240 c.1140G>C c.(1138-1140)ggG>ggC p.G380G ASTN2_ENST00000373996.3_Silent_p.G380G|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron O75129 ASTN2_HUMAN astrotactin 2 380 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 GCTTCCTCTTCCCTGCCGATG 0.577000 19 17 0 0 1 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119134361 119134361 + Silent SNP C C T TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr3:119134361C>T ENST00000264245.4 + 12 4117 c.3585C>T c.(3583-3585)tgC>tgT p.C1195C NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 1195 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 TCAAAATGTGCCAGGCCAGGG 0.587000 3 35 0 0 1 0 0 ONECUT1 3175 broad.mit.edu 37 15 53081526 53081526 + Missense_Mutation SNP C C T TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr15:53081526C>T ENST00000305901.5 - 1 683 c.556G>A c.(556-558)Ggt>Agt p.G186S ONECUT1_ENST00000561401.2_Intron NM_004498.2 NP_004489.1 Q9UBC0 HNF6_HUMAN one cut homeobox 1 186 endocrine pancreas development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 17 all cancers(107;0.0708) CTGCCCAGACCGGAGCTGGAG 0.667000 27 32 0 0 1 0 0 CD34 947 broad.mit.edu 37 1 208062058 208062058 + Missense_Mutation SNP C C T rs146542924 TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr1:208062058C>T ENST00000356522.4 - 7 1262 c.941G>A c.(940-942)cGc>cAc p.R314H CD34_ENST00000367036.3_Missense_Mutation_p.R156H|CD34_ENST00000310833.7_Missense_Mutation_p.R314H|CD34_ENST00000485761.1_5'UTR|CD34_ENST00000537704.1_Missense_Mutation_p.R179H NM_001773.2 NP_001764.1 P28906 CD34_HUMAN CD34 molecule 314 cell-cell adhesion|leukocyte migration|regulation of immune response integral to membrane carbohydrate binding kidney(2)|large_intestine(2)|lung(8)|ovary(1) 13 CCAGCTGCGGCGATTCATCAG 0.562000 85 104 0 0 1 0 0 RAB4A 5867 broad.mit.edu 37 1 229431652 229431652 + Silent SNP C C T TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr1:229431652C>T ENST00000366690.4 + 4 493 c.285C>T c.(283-285)atC>atT p.I95I RAB4A_ENST00000473894.1_3'UTR NM_004578.2 NP_004569.2 P20338 RAB4A_HUMAN RAB4A, member RAS oncogene family 90 GDP binding|GTP binding|GTPase activity central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.178) TCTATGATATCACCAGGTAAT 0.562000 16 25 0 0 1 0 0 ISM2 145501 broad.mit.edu 37 14 77948909 77948909 + Silent SNP G G A TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr14:77948909G>A ENST00000393684.3 - 5 856 c.465C>T c.(463-465)ccC>ccT p.P155P ISM2_ENST00000493585.1_Intron|ISM2_ENST00000342219.4_Silent_p.P243P|ISM2_ENST00000412904.1_Silent_p.P162P|ISM2_ENST00000429906.1_Silent_p.P162P Q6H9L7 ISM2_HUMAN isthmin 2 243 extracellular region endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 21 ACCAGAGGGCGGGCAGCCAGC 0.607000 27 37 0 0 1 0 0 EYS 346007 broad.mit.edu 37 6 66115238 66115238 + Silent SNP T T G TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr6:66115238T>G ENST00000503581.1 - 6 1422 c.885A>C c.(883-885)gcA>gcC p.A295A EYS_ENST00000342421.5_Silent_p.A295A|EYS_ENST00000370616.2_Silent_p.A295A|EYS_ENST00000370621.3_Silent_p.A295A|EYS_ENST00000370618.3_Silent_p.A295A|EYS_ENST00000393380.2_Silent_p.A295A NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 295 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 CACAAGGTTTTGCTGACACCT 0.363000 56 65 0 0 1 0 0 DDX56 54606 broad.mit.edu 37 7 44611159 44611159 + Silent SNP T T C TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr7:44611159T>C ENST00000258772.5 - 6 928 c.822A>G c.(820-822)ctA>ctG p.L274L DDX56_ENST00000431640.1_Silent_p.L274L|DDX56_ENST00000485367.1_5'UTR NM_001257189.1|NM_019082.3 NP_001244118.1|NP_061955.1 Q9NY93 DDX56_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 56 274 Helicase C-terminal. rRNA processing nucleolus ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1) 16 AGAACAGGCGTAGCCGGTAAC 0.512000 17 35 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 6 71 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43484655 43484655 + Silent SNP G G A TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr7:43484655G>A ENST00000395891.1 + 11 2489 c.1884G>A c.(1882-1884)gcG>gcA p.A628A HECW1_ENST00000453890.1_Silent_p.A628A NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 628 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 CAGGCACGGCGCACCCTGGCC 0.711000 8 6 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197657782 197657782 + Silent SNP C C T TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr2:197657782C>T ENST00000263956.3 - 3 398 c.309G>A c.(307-309)gaG>gaA p.E103E GTF3C3_ENST00000409364.3_Silent_p.E103E NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 103 Glu-rich. transcription factor TFIIIC complex DNA binding|protein binding p.E103E(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 cctcctcctcctcttcttcct 0.468000 3 49 0 0 1 0 0 KLHL20 27252 broad.mit.edu 37 1 173721044 173721044 + Missense_Mutation SNP C C A TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr1:173721044C>A ENST00000209884.4 + 4 875 c.739C>A c.(739-741)Cgt>Agt p.R247S KLHL20_ENST00000546011.1_Missense_Mutation_p.R58S NM_014458.3 NP_055273.2 Q9Y2M5 KLH20_HUMAN kelch-like family member 20 247 BACK. cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body actin binding|interferon-gamma binding|ubiquitin-protein ligase activity breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1) 34 TCAGGAAAGACGTCCTCAATT 0.443000 13 26 0.00316338 0.00322307 1 1 0 RPL3L 6123 broad.mit.edu 37 16 1997042 1997042 + Missense_Mutation SNP C C T rs149043671 TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr16:1997042C>T ENST00000268661.7 - 6 840 c.746G>A c.(745-747)cGc>cAc p.R249H NM_005061.2 NP_005052.1 Q92901 RL3L_HUMAN ribosomal protein L3-like 249 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 17 GGCCACCTTGCGCAGGCCCTT 0.672000 24 33 0 0 1 0 0 PCDHA2 0 broad.mit.edu 37 5 140175878 140175878 + Silent SNP C C T TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr5:140175878C>T ENST00000526136.1 + 1 1329 c.1329C>T c.(1327-1329)atC>atT p.I443I PCDHA2_ENST00000520672.2_Silent_p.I443I|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.I443I NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGTGTCCATCGAGGTGGCCG 0.652000 35 35 0 0 1 0 0 ZNF143 7702 broad.mit.edu 37 11 9500066 9500066 + Missense_Mutation SNP G G A TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr11:9500066G>A ENST00000396602.2 + 6 622 c.503G>A c.(502-504)gGt>gAt p.G168D ZNF143_ENST00000396597.3_Missense_Mutation_p.G137D|ZNF143_ENST00000530463.1_Missense_Mutation_p.G167D|ZNF143_ENST00000396604.1_Missense_Mutation_p.G167D|ZNF143_ENST00000299606.2_Missense_Mutation_p.G140D NM_003442.5 NP_003433.3 P52747 ZN143_HUMAN zinc finger protein 143 168 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm DNA binding|zinc ion binding endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 13 all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212) ACAGTGGCAGGTCTGCACACT 0.493000 35 41 0 0 1 0 0 EMILIN1 11117 broad.mit.edu 37 2 27305294 27305294 + Silent SNP C C T TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr2:27305294C>T ENST00000380320.4 + 4 1354 c.855C>T c.(853-855)ggC>ggT p.G285G NM_007046.3 NP_008977.1 Q9Y6C2 EMIL1_HUMAN elastin microfibril interfacer 1 285 cell adhesion collagen breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ccccTCCGGGCCCCAGTGAGG 0.706000 3 3 0 0 1 0 0 ACSBG1 23205 broad.mit.edu 37 15 78526789 78526789 + Silent SNP G G A TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr15:78526789G>A ENST00000258873.4 - 1 260 c.55C>T c.(55-57)Ctg>Ttg p.L19L ACSBG1_ENST00000558828.1_Intron|ACSBG1_ENST00000541759.1_5'UTR|ACSBG1_ENST00000560817.1_Intron NM_001199377.1|NM_015162.4 NP_001186306.1|NP_055977.3 Q96GR2 ACBG1_HUMAN acyl-CoA synthetase bubblegum family member 1 19 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 37 CTGCTGTCCAGCATGCTGGGG 0.562000 76 105 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26902661 26902661 + Missense_Mutation SNP C C A TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr5:26902661C>A ENST00000231021.4 - 7 1349 c.1177G>T c.(1177-1179)Gat>Tat p.D393Y NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 393 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 ACATCTTCATCTACTTCTATC 0.378000 5 70 0.00116845 0.00121339 1 1 0 TRAF3IP2 10758 broad.mit.edu 37 6 111888871 111888871 + Nonsense_Mutation SNP G G A TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr6:111888871G>A ENST00000368761.5 - 6 1793 c.1315C>T c.(1315-1317)Cga>Tga p.R439* TRAF3IP2_ENST00000340026.6_Nonsense_Mutation_p.R448*|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2-AS1_ENST00000606892.1_RNA|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2_ENST00000359831.4_Nonsense_Mutation_p.R439*|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2_ENST00000392556.4_Nonsense_Mutation_p.R27* NM_001164281.2|NM_147686.3 NP_001157753.1|NP_679211.2 O43734 CIKS_HUMAN TRAF3 interacting protein 2 448 SEFIR. intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 18 all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732) TCAATGCCTCGGATTCTATCC 0.388000 26 25 0 0 1 0 0 TMPRSS11D 9407 broad.mit.edu 37 4 68692994 68692994 + Missense_Mutation SNP C C T TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr4:68692994C>T ENST00000283916.6 - 8 1035 c.937G>A c.(937-939)Gct>Act p.A313T RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.A196T NM_004262.2 NP_004253.1 O60235 TM11D_HUMAN transmembrane protease, serine 11D 313 Peptidase S1. proteolysis|respiratory gaseous exchange extracellular region|integral to plasma membrane serine-type endopeptidase activity p.A313T(1) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 TATTCTTGAGCGCCCCATCCT 0.378000 36 64 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977327 29977327 + RNA SNP T T C rs143365191 by1000genomes TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr6:29977327T>C ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA GACAGCTGCCTTGTGTGGGAC 0.438000 3 43 0 0 1 0 0 EPAS1 2034 broad.mit.edu 37 2 46607543 46607543 + Frame_Shift_Del DEL G G - TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr2:46607543delG ENST00000263734.3 + 12 2242 c.1732delG c.(1732-1734)ccfs p.A578fs NM_001430.4 NP_001421.2 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 578 angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) GGCCCCTGTAGCCCCGCACAG 0.607 18 23 --- --- --- --- BZW1 9689 broad.mit.edu 37 2 201684815 201684815 + Frame_Shift_Del DEL C C - TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr2:201684815delC ENST00000409600.1 + 10 1532 c.1077delC c.(1075-1077)ttfs p.F359fs BZW1_ENST00000409226.1_Frame_Shift_Del_p.F363fs|BZW1_ENST00000452790.2_Frame_Shift_Del_p.F391fs NM_001207067.1|NM_014670.3 NP_001193996.1|NP_055485.2 Q7L1Q6 BZW1_HUMAN basic leucine zipper and W2 domains 1 359 W2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm protein binding breast(1)|kidney(2)|large_intestine(1)|lung(2) 6 TGAAAGCCTTCCAGAAAATAG 0.318 2 4 --- --- --- --- FAM111A 63901 broad.mit.edu 37 11 58920573 58920574 + Frame_Shift_Ins INS - - A TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr11:58920573_58920574insA ENST00000528737.1 + 5 4250_4251 c.1432_1433insA c.(1432-1434)aaafs p.K478fs FAM111A_ENST00000420244.1_Frame_Shift_Ins_p.K478fs|FAM111A_ENST00000531147.1_Frame_Shift_Ins_p.K478fs|FAM111A_ENST00000533703.1_Frame_Shift_Ins_p.K478fs|FAM111A_ENST00000361723.3_Frame_Shift_Ins_p.K478fs Q96PZ2 F111A_HUMAN family with sequence similarity 111, member A 478 proteolysis serine-type endopeptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_epithelial(135;0.139) TCCATATGGAGAAAAAAAGCAG 0.406 24 50 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578555 7578556 + Splice_Site DEL CT CT - TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 008659ce-78a0-4243-8cf4-bbfb8308e993 ff736958-09d1-4cb7-9fa5-5955bde500ff g.chr17:7578555_7578556delCT ENST00000420246.2 - 5 508 c.e5-1 TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.?(72)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CAGGGGAGTACTGTAGGAAGAG 0.554 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 6 5 --- --- --- ---