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 DBF4 10926 broad.mit.edu 37 7 87537388 87537388 + Missense_Mutation SNP T T A TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr7:87537388T>A ENST00000265728.1 + 12 2439 c.1935T>A c.(1933-1935)aaT>aaA p.N645K NM_006716.3 NP_006707.1 Q9UBU7 DBF4A_HUMAN DBF4 homolog (S. cerevisiae) 645 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3) 28 Esophageal squamous(14;0.00202) Breast(660;0.0334) GTATATGCAATGTTTTAGATA 0.348000 6 110 0 0 1 0 0 MTMR3 8897 broad.mit.edu 37 22 30408409 30408409 + Missense_Mutation SNP C C G TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr22:30408409C>G ENST00000333027.3 + 13 1502 c.1174C>G c.(1174-1176)Ctg>Gtg p.L392V MTMR3_ENST00000406629.1_Missense_Mutation_p.L392V|MTMR3_ENST00000401950.2_Missense_Mutation_p.L392V|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000351488.3_Missense_Mutation_p.L392V|MTMR3_ENST00000323630.5_Missense_Mutation_p.L256V NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 392 Myotubularin phosphatase. phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) GTCTGTGCTTCTGAAATCAGC 0.473000 10 314 0 0 1 0 0 TMEM252 169693 broad.mit.edu 37 9 71155571 71155571 + Missense_Mutation SNP G G C TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr9:71155571G>C ENST00000377311.3 - 1 212 c.160C>G c.(160-162)Ctt>Gtt p.L54V NM_153237.1 NP_694969.1 transmembrane protein 252 CCACTCAGAAGGATCACAAAC 0.552000 4 55 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164758883 164758883 + Splice_Site SNP C C T TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr3:164758883C>T ENST00000264382.3 - 18 2067 c.e18-1 NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GATCCTGATGCTGTGAGATAG 0.318000 HNSCC(35;0.089) 8 110 0 0 1 0 0 POMZP3 22932 broad.mit.edu 37 7 76254844 76254844 + Missense_Mutation SNP T T G TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr7:76254844T>G ENST00000310842.4 - 3 906 c.222A>C c.(220-222)aaA>aaC p.K74N UPK3B_ENST00000443097.2_Intron|UPK3B_ENST00000419923.2_Intron|AC004980.7_ENST00000418663.1_RNA|POMZP3_ENST00000275569.4_Missense_Mutation_p.K74N NM_012230.3 NP_036362.3 Q6PJE2 POZP3_HUMAN POM121 and ZP3 fusion 74 kidney(3)|lung(2) 5 Myeloproliferative disorder(862;0.204) GTTACCTTCTTTTATTTTCCT 0.463000 11 358 0 0 1 0 0 MAP3K10 4294 broad.mit.edu 37 19 40715068 40715068 + Silent SNP C C T TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr19:40715068C>T ENST00000253055.3 + 6 1782 c.1494C>T c.(1492-1494)tcC>tcT p.S498S NM_002446.3 NP_002437.2 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 10 498 activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 GGAAAGGATCCGATGGGGCCA 0.562000 6 107 0 0 1 0 0 MIR518F 574472 broad.mit.edu 37 19 54203346 54203346 + RNA SNP C C T TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr19:54203346C>T ENST00000384973.1 + 0 78 NR_030194.1 TAGAGGATTACTCTTTGAGAA 0.398000 10 101 0 0 1 0 0 OMP 4975 broad.mit.edu 37 11 76814248 76814248 + Silent SNP C C T TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr11:76814248C>T ENST00000529803.1 + 1 363 c.363C>T c.(361-363)gaC>gaT p.D121D CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000278559.3_Intron NM_006189.1 NP_006180.1 P47874 OMP_HUMAN olfactory marker protein 121 sensory perception of smell|synaptic transmission endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 ATGAGGCCGACGCCCTGGAGT 0.617000 7 70 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 33243055 33243055 + Missense_Mutation SNP G G A TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr14:33243055G>A ENST00000280979.4 + 12 3714 c.3544G>A c.(3544-3546)Gtc>Atc p.V1182I AKAP6_ENST00000557272.1_Missense_Mutation_p.V1182I NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1182 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) CATGCAAGCCGTCCAGTGGCA 0.428000 8 60 0 0 1 0 0 GCM2 9247 broad.mit.edu 37 6 10877387 10877387 + Missense_Mutation SNP C C T TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr6:10877387C>T ENST00000379491.4 - 2 476 c.329G>A c.(328-330)cGg>cAg p.R110Q RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron NM_004752.3 NP_004743.1 O75603 GCM2_HUMAN glial cells missing homolog 2 (Drosophila) 110 R -> W (in FIH; abolishes DNA binding ability). cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 30 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) CTGTTTCAGCCGTGCCTTGTC 0.562000 5 101 0 0 1 0 0 PCDHGC4 56098 broad.mit.edu 37 5 140866238 140866238 + Nonsense_Mutation SNP C C T TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr5:140866238C>T ENST00000306593.1 + 1 1498 c.1498C>T c.(1498-1500)Cga>Tga p.R500* PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_018928.2|NM_032406.1 NP_061751.1|NP_115782.1 NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 42 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCCAGGAATCGAGATGTATC 0.527000 11 158 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 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_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q 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 5 47 0 0 1 0 0 FZD8 8325 broad.mit.edu 37 10 35929680 35929680 + Silent SNP A A G TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr10:35929680A>G ENST00000374694.1 - 1 682 c.678T>C c.(676-678)gcT>gcC p.A226A NM_031866.2 NP_114072.1 Q9H461 FZD8_HUMAN frizzled family receptor 8 226 axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development cell projection|Golgi apparatus|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 11 GCTCGCAGGGAGCCGCGCCGC 0.791000 3 11 0 0 1 0 0 GRK1 6011 broad.mit.edu 37 13 114322035 114322035 + Missense_Mutation SNP G G A TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr13:114322035G>A ENST00000335678.6 + 1 566 c.334G>A c.(334-336)Gcc>Acc p.A112T NM_002929.2 NP_002920.1 Q15835 RK_HUMAN G protein-coupled receptor kinase 1 112 N-terminal.|RGS. regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity ovary(2) 2 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839) all cancers(43;0.234) GACCATCCTGGCCCAGTACCT 0.602000 14 49 0 0 1 0 0 DUOX2 50506 broad.mit.edu 37 15 45391947 45391947 + Nonsense_Mutation SNP G G A TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr15:45391947G>A ENST00000389039.6 - 25 3713 c.3328C>T c.(3328-3330)Cga>Tga p.R1110* DUOX2_ENST00000603300.1_Nonsense_Mutation_p.R1110* Q9NRD8 DUOX2_HUMAN dual oxidase 2 1110 Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) AAAGTCTCTCGCAGGAAGGTT 0.572000 7 97 0 0 1 0 0 LOC401127 401127 broad.mit.edu 37 4 39482384 39482384 + RNA SNP A A G rs10009841 by1000genomes TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr4:39482384A>G ENST00000513652.1 + 0 412 GTCAGATTCTAACCTTTTTGT 0.438000 4 59 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45390463 45390463 + Silent SNP G G A TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr6:45390463G>A ENST00000371438.1 + 2 550 c.192G>A c.(190-192)caG>caA p.Q64Q RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 64 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 agcagcagcagcaacagcagc 0.736000 5 48 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100677606 100677606 + Missense_Mutation SNP G G T TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr7:100677606G>T ENST00000306151.4 + 3 2973 c.2909G>T c.(2908-2910)gGt>gTt p.G970V NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 970 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACTGCTGAAGGTACCAGCATA 0.512000 17 477 1.5739e-10 1.6471e-10 1 1 0 FZD9 8326 broad.mit.edu 37 7 72849938 72849938 + Missense_Mutation SNP T T C TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr7:72849938T>C ENST00000344575.3 + 1 1830 c.1601T>C c.(1600-1602)tTc>tCc p.F534S NM_003508.2 NP_003499.1 O00144 FZD9_HUMAN frizzled family receptor 9 534 B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1) 14 Lung NSC(55;0.0659)|all_lung(88;0.152) TCCAAGACTTTCCAGACCTGG 0.662000 6 79 0 0 1 0 0 PSG10P 653492 broad.mit.edu 37 19 43359859 43359859 + RNA SNP T T G rs10469289 by1000genomes TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr19:43359859T>G ENST00000597171.1 - 0 11 NR_026824.1 GTGCTGTCCTTCCTCCTTCTG 0.592000 4 69 0 0 1 0 0 UQCR10 29796 broad.mit.edu 37 22 30163555 30163555 + Silent SNP C C T TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr22:30163555C>T ENST00000401406.3 + 1 193 c.168C>T c.(166-168)atC>atT p.I56I UQCR10_ENST00000330029.6_Intron Q9UDW1 QCR9_HUMAN ubiquinol-cytochrome c reductase, complex III subunit X 0 mitochondrial electron transport, ubiquinol to cytochrome c mitochondrial inner membrane|respiratory chain ubiquinol-cytochrome-c reductase activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1) 5 CCTGTGCCATCCCTGACCTTG 0.592000 5 29 0 0 1 0 0 ZFP57 346171 broad.mit.edu 37 6 29640669 29640669 + Missense_Mutation SNP G G T TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr6:29640669G>T ENST00000376883.1 - 6 1570 c.1159C>A c.(1159-1161)Ctc>Atc p.L387I ZFP57_ENST00000376881.3_Missense_Mutation_p.L387I|ZFP57_ENST00000488757.1_Missense_Mutation_p.L407I Q9NU63 ZFP57_HUMAN ZFP57 zinc finger protein 323 DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5) 44 GGCTCTGTGAGGTGGGCCTTC 0.502000 31 380 1.06801e-11 1.1443e-11 1 1 0 IQGAP3 128239 broad.mit.edu 37 1 156542309 156542309 + Missense_Mutation SNP C C T TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr1:156542309C>T ENST00000361170.2 - 1 23 c.13G>A c.(13-15)Gca>Aca p.A5T NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 5 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGGCCCGCTGCTCTCCTCTCC 0.662000 10 231 0 0 1 0 0 ZNF616 90317 broad.mit.edu 37 19 52619793 52619793 + Silent SNP A A G TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr19:52619793A>G ENST00000600228.1 - 4 885 c.624T>C c.(622-624)acT>acC p.T208T ZNF616_ENST00000330123.5_3'UTR NM_178523.3 NP_848618.2 Q08AN1 ZN616_HUMAN zinc finger protein 616 208 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) GTTTCTCTGTAGTATGTATCC 0.398000 7 162 0 0 1 0 0 SLC46A3 283537 broad.mit.edu 37 13 29287531 29287531 + Missense_Mutation SNP C C T TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr13:29287531C>T ENST00000266943.6 - 3 715 c.346G>A c.(346-348)Gtt>Att p.V116I SLC46A3_ENST00000380814.4_Missense_Mutation_p.V116I NM_001135919.1|NM_181785.3 NP_001129391.1|NP_861450.1 Q7Z3Q1 S46A3_HUMAN solute carrier family 46, member 3 116 transmembrane transport integral to membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1) 15 Lung SC(185;0.0367) all cancers(112;0.159) CAGAGCCAAACGCTGGTTGCA 0.413000 6 64 0 0 1 0 0 MARCH4 57574 broad.mit.edu 37 2 217234886 217234886 + Missense_Mutation SNP C C T TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr2:217234886C>T ENST00000273067.4 - 1 1864 c.98G>A c.(97-99)cGc>cAc p.R33H NM_020814.2 NP_065865.1 Q9P2E8 MARH4_HUMAN membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase 33 Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network ubiquitin-protein ligase activity|zinc ion binding breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1) 20 Renal(323;0.0854) Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125) ACCCTGGTGGCGCAACATCTG 0.632000 3 9 0 0 1 0 0 THOC2 57187 broad.mit.edu 37 X 122759892 122759892 + Silent SNP T T C TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chrX:122759892T>C ENST00000245838.8 - 25 2959 c.2928A>G c.(2926-2928)aaA>aaG p.K976K THOC2_ENST00000491737.1_Silent_p.K861K|THOC2_ENST00000355725.4_Silent_p.K976K NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 976 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 GCTGTAGAAATTTTGTGATGG 0.343000 7 57 0 0 1 0 0 TRBV5-4 28611 broad.mit.edu 37 7 142168862 142168862 + RNA SNP A A G rs140095394 by1000genomes TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr7:142168862A>G ENST00000454561.2 - 0 183 TGGGCCAGGCAGCACTGCACC 0.597000 5 36 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11561829 11561829 + Silent SNP C C T TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr1:11561829C>T ENST00000294484.6 + 2 918 c.780C>T c.(778-780)cgC>cgT p.R260R PTCHD2_ENST00000389575.3_Silent_p.R260R NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 260 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) ACTACTCGCGCGCCTATGTGA 0.682000 3 18 0 0 1 0 0 ALOX5 240 broad.mit.edu 37 10 45924084 45924084 + Missense_Mutation SNP G G A TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr10:45924084G>A ENST00000374391.2 + 7 906 c.853G>A c.(853-855)Gtg>Atg p.V285M ALOX5_ENST00000542434.1_Missense_Mutation_p.V285M NM_000698.3|NM_001256153.1 NP_000689.1|NP_001243082.1 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 285 Lipoxygenase. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) CATTTTCATCGTGGACTTTGA 0.532000 4 45 0 0 1 0 0 DOCK5 80005 broad.mit.edu 37 8 25203031 25203031 + Silent SNP C C A TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr8:25203031C>A ENST00000276440.7 + 26 2702 c.2658C>A c.(2656-2658)ctC>ctA p.L886L NM_024940.6 NP_079216.4 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 886 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) CAGACCAGCTCAGCGGCCAGT 0.557000 6 138 2.7689e-08 2.83183e-08 1 1 0 DBT 1629 broad.mit.edu 37 1 100684276 100684276 + Missense_Mutation SNP G G A TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr1:100684276G>A ENST00000370132.3 - 5 474 c.461C>T c.(460-462)cCt>cTt p.P154L DBT_ENST00000370131.3_Missense_Mutation_p.P154L NM_001918.3 NP_001909.3 P11182 ODB2_HUMAN dihydrolipoamide branched chain transacylase E2 154 branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1) 19 all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199) AGACACTGCAGGAGTTTCAAC 0.373000 8 171 0 0 1 0 0 ANKAR 150709 broad.mit.edu 37 2 190584538 190584538 + Splice_Site SNP A A G TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr2:190584538A>G ENST00000520309.1 + 11 2553 c.2466_splice c.e11+1 p.Y822_splice ANKAR_ENST00000438402.2_Splice_Site_p.Y822_splice|ANKAR_ENST00000431575.2_Splice_Site_p.Y751_splice|ANKAR_ENST00000313581.4_Splice_Site_p.Y822_splice|ANKAR_ENST00000281412.6_Splice_Site_p.Y586_splice NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 822 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) ATTGCCAAATATGTAAGTTCC 0.343000 4 41 0 0 1 0 0 MTHFD1L 25902 broad.mit.edu 37 6 151336665 151336665 + Missense_Mutation SNP G G A TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr6:151336665G>A ENST00000367321.3 + 24 2696 c.2422G>A c.(2422-2424)Gct>Act p.A808T NM_001242767.1|NM_001242768.1|NM_015440.4 NP_001229696.1|NP_001229697.1|NP_056255.2 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 808 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 29 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) CGACACCCGCGCTGAGATTGA 0.473000 9 124 0 0 1 0 0 SCN8A 6334 broad.mit.edu 37 12 52145365 52145365 + Silent SNP T T A TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr12:52145365T>A ENST00000354534.5 + 14 2536 c.2358T>A c.(2356-2358)gcT>gcA p.A786A SCN8A_ENST00000545061.1_Silent_p.A786A|SCN8A_ENST00000550891.1_Silent_p.A786A NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 786 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) ATGTCTTGGCTGTAGGAAATC 0.423000 10 67 0 0 1 0 0 NEUROD1 4760 broad.mit.edu 37 2 182543278 182543278 + Missense_Mutation SNP T T G TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr2:182543278T>G ENST00000295108.3 - 2 767 c.310A>C c.(310-312)Atg>Ctg p.M104L CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron NM_002500.4 NP_002491.2 Q13562 NDF1_HUMAN neuronal differentiation 1 104 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) TTAGCCTTCATGCGTCTCAAT 0.547000 5 69 0 0 1 0 0 FLJ33360 401172 broad.mit.edu 37 5 6337066 6337067 + RNA DEL AC AC - TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr5:6337066_6337067delAC ENST00000507444.1 - 0 143 NR_028351.1 acacatacatacacacacacac 0.475 3 6 --- --- --- --- INA 9118 broad.mit.edu 37 10 105048271 105048273 + In_Frame_Del DEL GAG GAG - TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr10:105048271_105048273delGAG ENST00000369849.4 + 3 1394_1396 c.1345_1347delGAG c.(1345-1347)del p.E454del NM_032727.3 NP_116116.1 Q16352 AINX_HUMAN internexin neuronal intermediate filament protein, alpha 454 Poly-Glu.|Tail. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton p.E449_E450delEE(1) breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2) 13 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) ACTTAAGAAAGAGGAGGAGGAGG 0.458 7 213 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579703 7579703 + Frame_Shift_Del DEL A A - TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr17:7579703delA ENST00000420246.2 - 3 225 c.93delT c.(91-93)gtfs p.V31fs TP53_ENST00000445888.2_Frame_Shift_Del_p.V31fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.V31fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.V31fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.V31fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.V31fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 31 Interaction with HRMT1L2.|Transcription activation (acidic). V -> I (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.P13fs*18(1)|p.L26fs*11(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) TCCTTACCAGAACGTTGTTTT 0.597 111 """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) 10 92 --- --- --- --- CBX3P2 645158 broad.mit.edu 37 18 2652677 2652678 + RNA DEL AC AC - TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr18:2652677_2652678delAC ENST00000579647.1 - 0 919_920 NR_033754.2 CCTAGGTTTTACACACACACAC 0.342 3 6 --- --- --- --- SEH1L 81929 broad.mit.edu 37 18 12986927 12986929 + In_Frame_Del DEL TCC TCC - TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr18:12986927_12986929delTCC ENST00000399892.2 + 9 1238_1240 c.1137_1139delTCC c.(1135-1140)ctt>ct p.LP379del SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA NM_001013437.1 NP_001013455.1 Q96EE3 SEH1_HUMAN SEH1-like (S. cerevisiae) 0 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 CCCAGCTCCTtcctcctcctcct 0.522 7 42 --- --- --- --- ZNF579 163033 broad.mit.edu 37 19 56089908 56089909 + In_Frame_Ins INS - - CCG rs141478862 by1000genomes TCGA-CQ-A4CH-01A-11D-A25Y-08 TCGA-CQ-A4CH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx b77aa7fa-403b-4ee1-b537-695a799c80f5 92e8b340-322e-4411-95d8-7db81767f660 g.chr19:56089908_56089909insCCG ENST00000325421.4 - 2 1125_1126 c.1097_1098insCGG c.(1096-1098)gca>gCGGca p.366_366A>AA NM_152600.2 NP_689813.2 Q8NAF0 ZN579_HUMAN zinc finger protein 579 366 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G366_Q367insG(1) endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.106) CTCCGTTCTGCCCTTCTCCCCC 0.748 3 4 --- --- --- ---