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 CAMTA1 23261 broad.mit.edu 37 1 7724777 7724777 + Missense_Mutation SNP A A T TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr1:7724777A>T ENST00000303635.7 + 9 2377 c.2170A>T c.(2170-2172)Aac>Tac p.N724Y CAMTA1_ENST00000439411.2_Missense_Mutation_p.N724Y NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 724 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GCCGGAGACCAACGGGGTAAT 0.682 T WWTR1 epitheliod hemangioendothelioma 17 61 --- --- --- --- ECE1 1889 broad.mit.edu 37 1 21548284 21548284 + Missense_Mutation SNP G G C TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr1:21548284G>C ENST00000415912.2 - 18 2169 c.2044C>G c.(2044-2046)Ctg>Gtg p.L682V ECE1_ENST00000374893.6_Missense_Mutation_p.L698V|ECE1_ENST00000357071.4_Missense_Mutation_p.L686V|ECE1_ENST00000264205.6_Missense_Mutation_p.L695V|ECE1_ENST00000436918.2_Intron NM_001113348.1 NP_001106819.1 P42892 ECE1_HUMAN endothelin converting enzyme 1 698 bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body metal ion binding|metalloendopeptidase activity|protein homodimerization activity endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 25 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) GTGAGGCCCAGGGTGGGGAGC 0.537 8 215 --- --- --- --- GPATCH3 63906 broad.mit.edu 37 1 27226496 27226496 + Silent SNP A A T TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr1:27226496A>T ENST00000361720.5 - 1 461 c.438T>A c.(436-438)ccT>ccA p.P146P NM_022078.2 NP_071361.2 Q96I76 GPTC3_HUMAN G patch domain containing 3 146 intracellular nucleic acid binding endometrium(2)|large_intestine(1)|lung(11)|skin(1) 15 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419) ATGCCTCCGTAGGTAGCCGAA 0.567 13 23 --- --- --- --- CCDC28B 79140 broad.mit.edu 37 1 32669948 32669948 + Missense_Mutation SNP G G A TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr1:32669948G>A ENST00000421922.2 + 4 593 c.493G>A c.(493-495)Gct>Act p.A165T CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Missense_Mutation_p.A165T Q9BUN5 CC28B_HUMAN coiled-coil domain containing 28B 165 large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) GAAGACAATGGCTGACCGTAA 0.567 10 46 --- --- --- --- CPS1 1373 broad.mit.edu 37 2 211504743 211504743 + Missense_Mutation SNP C C G TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr2:211504743C>G ENST00000233072.5 + 24 3115 c.2919C>G c.(2917-2919)gaC>gaG p.D973E CPS1_ENST00000451903.2_Missense_Mutation_p.D522E|CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000430249.2_Missense_Mutation_p.D979E NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 973 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) ATTTTGATGACCATGGAATGA 0.308 37 62 --- --- --- --- PAX3 5077 broad.mit.edu 37 2 223085952 223085952 + Missense_Mutation SNP G G T TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr2:223085952G>T ENST00000350526.4 - 6 1083 c.947C>A c.(946-948)tCt>tAt p.S316Y PAX3_ENST00000336840.6_Missense_Mutation_p.S316Y|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000392070.2_Missense_Mutation_p.S316Y|PAX3_ENST00000344493.4_Missense_Mutation_p.S316Y|PAX3_ENST00000409551.3_Missense_Mutation_p.S315Y|PAX3_ENST00000392069.2_Missense_Mutation_p.S316Y NM_181457.3 NP_852122.1 P23760 PAX3_HUMAN paired box 3 316 apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749) NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 38 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTGTGGAATAGATGTGGGCTG 0.502 T """FOXO1A, NCOA1""" alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 74 179 --- --- --- --- IRAK2 3656 broad.mit.edu 37 3 10264445 10264445 + Missense_Mutation SNP C C T TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr3:10264445C>T ENST00000256458.4 + 9 1229 c.1139C>T c.(1138-1140)gCg>gTg p.A380V NM_001570.3 NP_001561.3 O43187 IRAK2_HUMAN interleukin-1 receptor-associated kinase 2 380 Protein kinase. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|endosome membrane|plasma membrane ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1) 25 ACGTCAGCCGCGTATCTGCCA 0.532 6 88 --- --- --- --- SCN11A 11280 broad.mit.edu 37 3 38924808 38924808 + Silent SNP C C A TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr3:38924808C>A ENST00000450244.1 - 18 3333 c.3135G>T c.(3133-3135)ctG>ctT p.L1045L SCN11A_ENST00000456224.3_Silent_p.L1007L|SCN11A_ENST00000444237.2_Silent_p.L1045L|SCN11A_ENST00000302328.3_Silent_p.L1045L Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1045 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) AGGTTTTCCGCAGGTTCCACC 0.453 21 38 --- --- --- --- GABRG1 2565 broad.mit.edu 37 4 46067500 46067500 + Silent SNP T T C TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr4:46067500T>C ENST00000295452.4 - 4 590 c.423A>G c.(421-423)ggA>ggG p.G141G NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 141 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TCCAAATTTTTCCAACCATAT 0.343 21 43 --- --- --- --- GABRB1 2560 broad.mit.edu 37 4 47405709 47405709 + Silent SNP T T G TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr4:47405709T>G ENST00000295454.3 + 7 1108 c.816T>G c.(814-816)tcT>tcG p.S272S GABRB1_ENST00000538619.1_Silent_p.S202S NM_000812.3 NP_000803.2 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 1 272 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) ATGATGCATCTGCAGCCAGAG 0.388 34 68 --- --- --- --- CTSO 1519 broad.mit.edu 37 4 156863585 156863585 + Missense_Mutation SNP A A C TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr4:156863585A>C ENST00000433477.3 - 3 337 c.268T>G c.(268-270)Tcc>Gcc p.S90A NM_001334.2 NP_001325.1 P43234 CATO_HUMAN cathepsin O 90 proteolysis lysosome cysteine-type endopeptidase activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1) 16 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148) GGAAACTTGGAAGGTTTGCTT 0.323 33 57 --- --- --- --- SSBP2 23635 broad.mit.edu 37 5 80809507 80809507 + Silent SNP T T G TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr5:80809507T>G ENST00000320672.4 - 5 522 c.312A>C c.(310-312)ctA>ctC p.L104L SSBP2_ENST00000509053.1_Intron|SSBP2_ENST00000515395.1_Intron|SSBP2_ENST00000514493.1_Intron|SSBP2_ENST00000505980.1_Silent_p.L104L NM_001256732.1|NM_001256733.1|NM_012446.3 NP_001243661.1|NP_001243662.1|NP_036578.2 P81877 SSBP2_HUMAN single-stranded DNA binding protein 2 104 Pro-rich. regulation of transcription, DNA-dependent cytoplasm|nucleus single-stranded DNA binding SSBP2/JAK2(4) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338) OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29) GAATGTTTCCTAGCACTGGAC 0.448 64 67 --- --- --- --- GPR98 84059 broad.mit.edu 37 5 89986832 89986832 + Missense_Mutation SNP G G A TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr5:89986832G>A ENST00000405460.2 + 31 7021 c.6925G>A c.(6925-6927)Gct>Act p.A2309T NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2309 Calx-beta 16. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGAGGTCCTGGCTGACGACGT 0.473 23 109 --- --- --- --- MCTP1 79772 broad.mit.edu 37 5 94046594 94046594 + Missense_Mutation SNP G G T TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr5:94046594G>T ENST00000515393.1 - 21 2758 c.2759C>A c.(2758-2760)gCc>gAc p.A920D MCTP1_ENST00000514040.1_5'UTR|MCTP1_ENST00000429576.2_Missense_Mutation_p.A613D|MCTP1_ENST00000312216.8_Missense_Mutation_p.A699D|MCTP1_ENST00000505078.1_Missense_Mutation_p.A436D|ANKRD32_ENST00000493934.1_Intron NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 920 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) GGCTACAATGGCCAGCCAGCT 0.433 12 22 --- --- --- --- TRIM10 10107 broad.mit.edu 37 6 30124743 30124743 + Silent SNP G G A TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr6:30124743G>A ENST00000449742.2 - 5 943 c.868C>T c.(868-870)Ctg>Ttg p.L290L TRIM10_ENST00000376704.3_Silent_p.L290L NM_006778.3 NP_006769.2 Q9UDY6 TRI10_HUMAN tripartite motif containing 10 290 cytoplasm zinc ion binding ovary(1) 1 TCCCTCTGCAGCGGGAGGGCC 0.612 22 19 --- --- --- --- RPL10A 4736 broad.mit.edu 37 6 35438405 35438405 + Missense_Mutation SNP G G A rs11553976 TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr6:35438405G>A ENST00000322203.6 + 6 559 c.532G>A c.(532-534)Gag>Aag p.E178K RPL10A_ENST00000467020.1_3'UTR NM_007104.4 NP_009035.3 P62906 RL10A_HUMAN ribosomal protein L10a 178 anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|large ribosomal subunit RNA binding|structural constituent of ribosome breast(1)|large_intestine(2)|ovary(1) 4 GACAGACGATGAGCTTGTGTA 0.483 28 39 --- --- --- --- KIF6 221458 broad.mit.edu 37 6 39581087 39581087 + Missense_Mutation SNP T T C TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr6:39581087T>C ENST00000287152.7 - 6 611 c.517A>G c.(517-519)Aca>Gca p.T173A KIF6_ENST00000373216.3_Missense_Mutation_p.T173A|KIF6_ENST00000538893.1_Missense_Mutation_p.T173A|KIF6_ENST00000373213.4_Missense_Mutation_p.T12A|KIF6_ENST00000373215.3_Missense_Mutation_p.T173A NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 173 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 TCCAGTATTGTCACTTTCCTA 0.398 28 66 --- --- --- --- ORC3 23595 broad.mit.edu 37 6 88375537 88375537 + Missense_Mutation SNP G G A TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr6:88375537G>A ENST00000392844.3 + 19 2064 c.2016G>A c.(2014-2016)atG>atA p.M672I ORC3_ENST00000546266.1_Missense_Mutation_p.M529I|ORC3_ENST00000257789.4_Missense_Mutation_p.M673I NM_012381.3|NM_181837.2 NP_036513.2|NP_862820.1 Q9UBD5 ORC3_HUMAN origin recognition complex, subunit 3 672 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 28 CAGAAGAAATGAATGAAATTA 0.308 3 42 --- --- --- --- HIPK2 28996 broad.mit.edu 37 7 139416759 139416759 + Silent SNP G G A TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr7:139416759G>A ENST00000406875.3 - 2 169 c.75C>T c.(73-75)ttC>ttT p.F25F HIPK2_ENST00000428878.2_Silent_p.F25F|HIPK2_ENST00000342645.6_Silent_p.F25F NM_022740.4 NP_073577.3 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 25 apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) TCACACTACAGAAGGCACTTG 0.483 7 12 --- --- --- --- SNTG1 54212 broad.mit.edu 37 8 51314884 51314884 + Missense_Mutation SNP G G A TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr8:51314884G>A ENST00000522124.1 + 4 803 c.142G>A c.(142-144)Ggt>Agt p.G48S SNTG1_ENST00000276467.5_Missense_Mutation_p.G48S|SNTG1_ENST00000517473.1_Missense_Mutation_p.G48S|SNTG1_ENST00000518864.1_Missense_Mutation_p.G48S NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 48 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) ATGTGTGTCTGGTGAGCCTTT 0.378 57 89 --- --- --- --- FAM122A 116224 broad.mit.edu 37 9 71395528 71395528 + Missense_Mutation SNP C C G rs146421193 TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr9:71395528C>G ENST00000394264.3 + 1 565 c.448C>G c.(448-450)Cgg>Ggg p.R150G PIP5K1B_ENST00000541509.1_Intron|PIP5K1B_ENST00000265382.3_Intron NM_138333.3 NP_612206.3 Q96E09 F122A_HUMAN family with sequence similarity 122A 150 endometrium(1)|lung(2) 3 GTCACCCACTCGGGGAATTGG 0.532 39 32 --- --- --- --- NXF1 10482 broad.mit.edu 37 11 62569242 62569242 + Missense_Mutation SNP T T A TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr11:62569242T>A ENST00000531709.2 - 6 721 c.608A>T c.(607-609)gAa>gTa p.E203V NXF1_ENST00000531131.1_Missense_Mutation_p.E66V|NXF1_ENST00000532297.1_Missense_Mutation_p.E203V|NXF1_ENST00000294172.2_Missense_Mutation_p.E203V|NXF1_ENST00000439713.2_Missense_Mutation_p.E203V NM_001081491.1 NP_001074960.1 Q9UBU9 NXF1_HUMAN nuclear RNA export factor 1 203 Interaction with THOC4. gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TGGCTTCAGTTCATTCAGTAT 0.488 56 86 --- --- --- --- ANKK1 255239 broad.mit.edu 37 11 113265773 113265773 + Missense_Mutation SNP G G T TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr11:113265773G>T ENST00000303941.3 + 3 697 c.603G>T c.(601-603)aaG>aaT p.K201N NM_178510.1 NP_848605.1 Q8NFD2 ANKK1_HUMAN ankyrin repeat and kinase domain containing 1 201 Protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1) 29 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) AGAGTAACAAGGCCCCAGGAC 0.587 4 11 --- --- --- --- ROBO4 54538 broad.mit.edu 37 11 124755084 124755084 + Missense_Mutation SNP G G T TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr11:124755084G>T ENST00000306534.3 - 17 3339 c.2854C>A c.(2854-2856)Ccc>Acc p.P952T RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.P807T NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 952 angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) TCCCACAGGGGCAGGGAGAGG 0.627 28 55 --- --- --- --- GRIN2B 2904 broad.mit.edu 37 12 13724776 13724776 + Missense_Mutation SNP C C A TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr12:13724776C>A ENST00000609686.1 - 10 2342 c.2133G>T c.(2131-2133)caG>caT p.Q711H NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CTACACCCCTCTGGTTGAACT 0.463 4 127 --- --- --- --- SRGAP1 57522 broad.mit.edu 37 12 64502788 64502788 + Silent SNP G G A TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr12:64502788G>A ENST00000355086.3 + 16 2414 c.1890G>A c.(1888-1890)gtG>gtA p.V630V SRGAP1_ENST00000357825.3_Silent_p.V607V|SRGAP1_ENST00000543397.1_Silent_p.V567V|RP11-196H14.4_ENST00000535806.1_RNA NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 630 Rho-GAP. axon guidance cytosol breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) TCCTTATAGTGATGAGGTACC 0.448 49 70 --- --- --- --- TMTC2 160335 broad.mit.edu 37 12 83424606 83424606 + Silent SNP C C T TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr12:83424606C>T ENST00000549919.1 + 10 3887 c.2082C>T c.(2080-2082)ttC>ttT p.F694F TMTC2_ENST00000321196.3_Silent_p.F700F Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat containing 2 700 endoplasmic reticulum|integral to membrane binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 AAAAGCTCTTCTTGAAGGCTA 0.423 33 61 --- --- --- --- WASF3 10810 broad.mit.edu 37 13 27256890 27256890 + Missense_Mutation SNP C C T TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr13:27256890C>T ENST00000361042.4 + 9 1346 c.1121C>T c.(1120-1122)tCc>tTc p.S374F WASF3_ENST00000335327.5_Missense_Mutation_p.S377F Q9UPY6 WASF3_HUMAN WAS protein family, member 3 377 actin filament polymerization cytoplasm|cytoskeleton actin binding p.S377F(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) TCAGCCAGCTCCACGCACGCA 0.701 23 37 --- --- --- --- BCL11B 64919 broad.mit.edu 37 14 99642454 99642454 + Missense_Mutation SNP G G T TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr14:99642454G>T ENST00000345514.2 - 3 772 c.506C>A c.(505-507)gCg>gAg p.A169E BCL11B_ENST00000443726.2_Missense_Mutation_p.A46E|BCL11B_ENST00000357195.3_Missense_Mutation_p.A240E NM_001282238.1|NM_022898.1 NP_001269167.1|NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 240 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) CGTGTTCTGCGCGTGCTGCAG 0.652 T TLX3 T-ALL 6 25 --- --- --- --- UBE3A 7337 broad.mit.edu 37 15 25605555 25605555 + Silent SNP C C T TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr15:25605555C>T ENST00000232165.3 - 7 2384 c.1728G>A c.(1726-1728)gtG>gtA p.V576V UBE3A_ENST00000428984.2_Silent_p.V556V|UBE3A_ENST00000566215.1_Silent_p.V556V|UBE3A_ENST00000397954.2_Silent_p.V579V|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Silent_p.V556V NM_000462.3|NM_130839.2 NP_000453.2|NP_570854.1 Q05086 UBE3A_HUMAN ubiquitin protein ligase E3A 579 brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 38 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) AGATTTCCTCCACAACCAGCT 0.343 34 31 --- --- --- --- XYLT1 64131 broad.mit.edu 37 16 17292238 17292238 + Missense_Mutation SNP C C T TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr16:17292238C>T ENST00000261381.6 - 5 1204 c.1120G>A c.(1120-1122)Gtc>Atc p.V374I NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 374 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TGCCTGGAGACCTGGAGCACT 0.587 3 34 --- --- --- --- FAM57B 83723 broad.mit.edu 37 16 30036752 30036752 + Missense_Mutation SNP C C T TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr16:30036752C>T ENST00000380495.4 - 5 1308 c.577G>A c.(577-579)Ggg>Agg p.G193R FAM57B_ENST00000564806.1_3'UTR|FAM57B_ENST00000279389.4_Missense_Mutation_p.G143R NM_031478.4 NP_113666.2 Q71RH2 FA57B_HUMAN family with sequence similarity 57, member B 193 TLC. endoplasmic reticulum|integral to membrane central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 ATCAGGGCCCCGTTCACCTTG 0.662 3 30 --- --- --- --- CMIP 80790 broad.mit.edu 37 16 81685832 81685832 + Missense_Mutation SNP G G C TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr16:81685832G>C ENST00000537098.3 + 4 574 c.502G>C c.(502-504)Gtg>Ctg p.V168L CMIP_ENST00000539778.2_Missense_Mutation_p.V74L|CMIP_ENST00000398040.4_Missense_Mutation_p.V15L|CMIP_ENST00000566513.1_3'UTR NM_198390.2 NP_938204.2 Q8IY22 CMIP_HUMAN c-Maf inducing protein 134 cytoplasm|nucleus endometrium(5)|kidney(1)|lung(7) 13 ATATAAGAAAGTGCTGAGTAA 0.453 12 27 --- --- --- --- CMIP 80790 broad.mit.edu 37 16 81685842 81685842 + Missense_Mutation SNP A A C TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr16:81685842A>C ENST00000537098.3 + 4 584 c.512A>C c.(511-513)aAc>aCc p.N171T CMIP_ENST00000539778.2_Missense_Mutation_p.N77T|CMIP_ENST00000398040.4_Missense_Mutation_p.N18T|CMIP_ENST00000566513.1_3'UTR NM_198390.2 NP_938204.2 Q8IY22 CMIP_HUMAN c-Maf inducing protein 137 cytoplasm|nucleus endometrium(5)|kidney(1)|lung(7) 13 GTGCTGAGTAACCCAAGCCGC 0.483 12 27 --- --- --- --- CDK12 51755 broad.mit.edu 37 17 37650848 37650848 + Missense_Mutation SNP G G A TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr17:37650848G>A ENST00000447079.4 + 5 2353 c.2320G>A c.(2320-2322)Gaa>Aaa p.E774K CDK12_ENST00000430627.2_Missense_Mutation_p.E774K NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 774 Protein kinase. mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 AGCCATTCGTGAAATCAAAAT 0.398 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 12 21 --- --- --- --- SPATA20 64847 broad.mit.edu 37 17 48626526 48626526 + Silent SNP G G C TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr17:48626526G>C ENST00000006658.6 + 6 759 c.639G>C c.(637-639)gtG>gtC p.V213V SPATA20_ENST00000356488.4_Silent_p.V197V|SPATA20_ENST00000393244.3_Silent_p.V153V|SPATA20_ENST00000511937.1_3'UTR NM_022827.3 NP_073738.2 Q8TB22 SPT20_HUMAN spermatogenesis associated 20 197 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) TCCGCACAGTGTTGCTGAGAA 0.617 3 75 --- --- --- --- SETBP1 26040 broad.mit.edu 37 18 42532187 42532187 + Missense_Mutation SNP T T G TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr18:42532187T>G ENST00000282030.5 + 4 3178 c.2882T>G c.(2881-2883)aTc>aGc p.I961S NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 961 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) GAGGAGCTAATCACCAAGTTC 0.478 Schinzel-Giedion syndrome 36 49 --- --- --- --- PTBP1 5725 broad.mit.edu 37 19 804112 804112 + Silent SNP G G T TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr19:804112G>T ENST00000356948.6 + 4 615 c.192G>T c.(190-192)cgG>cgT p.R64R PTBP1_ENST00000394601.4_Silent_p.R64R|PTBP1_ENST00000349038.4_Silent_p.R64R|PTBP1_ENST00000350092.4_Intron NM_002819.4 NP_002810.1 P26599 PTBP1_HUMAN polypyrimidine tract binding protein 1 64 RRM 1. negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4) 19 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCCACATCCGGAAGCTCCCCA 0.562 5 28 --- --- --- --- TMPRSS9 360200 broad.mit.edu 37 19 2410386 2410386 + Silent SNP C C A TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr19:2410386C>A ENST00000332578.3 + 8 1146 c.1146C>A c.(1144-1146)tcC>tcA p.S382S NM_182973.1 NP_892018.1 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 382 Peptidase S1 1. proteolysis integral to plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGGTGGACTCCTGCCAGGTGA 0.567 24 22 --- --- --- --- SLC25A23 79085 broad.mit.edu 37 19 6458224 6458224 + Missense_Mutation SNP C C G TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr19:6458224C>G ENST00000301454.4 - 2 374 c.268G>C c.(268-270)Gac>Cac p.D90H SLC25A23_ENST00000334510.5_Missense_Mutation_p.D90H NM_024103.2 NP_077008.2 Q9BV35 SCMC3_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 90 EF-hand 2. transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1) 17 TGGTTCCGGTCAAGACTGTGA 0.607 10 46 --- --- --- --- DHPS 1725 broad.mit.edu 37 19 12790632 12790632 + Silent SNP C C A TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr19:12790632C>A ENST00000210060.7 - 3 612 c.477G>T c.(475-477)cgG>cgT p.R159R DHPS_ENST00000599481.1_5'UTR|DHPS_ENST00000351660.5_Silent_p.R159R|DHPS_ENST00000594424.1_Silent_p.R117R NM_001930.3 NP_001921.1 P49366 DHYS_HUMAN deoxyhypusine synthase 159 peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation cytosol deoxyhypusine synthase activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2) 8 Sulfadoxine(DB01299) TCCCGTTCTCCCGGAGCTCCT 0.602 18 56 --- --- --- --- PPP6R2 9701 broad.mit.edu 37 22 50875995 50875995 + Missense_Mutation SNP A A G TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr22:50875995A>G ENST00000359139.3 + 15 2057 c.1663A>G c.(1663-1665)Aat>Gat p.N555D PPP6R2_ENST00000216061.5_Missense_Mutation_p.N582D|PPP6R2_ENST00000395741.3_Missense_Mutation_p.N556D|PPP6R2_ENST00000395744.3_Missense_Mutation_p.N555D NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4 NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2 O75170 PP6R2_HUMAN protein phosphatase 6, regulatory subunit 2 582 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 GTTTGGCTTCAATGATGAGGA 0.597 17 25 --- --- --- --- FAM47A 158724 broad.mit.edu 37 X 34148192 34148192 + Missense_Mutation SNP C C A TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chrX:34148192C>A ENST00000346193.3 - 1 2255 c.2204G>T c.(2203-2205)gGa>gTa p.G735V NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 735 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 GGCAATTGGTCCATAAAGATC 0.423 9 69 --- --- --- --- CHRDL1 91851 broad.mit.edu 37 X 109963154 109963154 + Silent SNP C C T TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chrX:109963154C>T ENST00000218054.4 - 6 643 c.447G>A c.(445-447)gaG>gaA p.E149E CHRDL1_ENST00000372042.1_Silent_p.E150E|CHRDL1_ENST00000394797.4_Silent_p.E149E|CHRDL1_ENST00000372045.1_Silent_p.E143E|CHRDL1_ENST00000434224.1_Intron|CHRDL1_ENST00000444321.2_Silent_p.E149E|CHRDL1_ENST00000482160.1_Intron NM_001143981.1|NM_001143982.1|NM_145234.3 NP_001137453.1|NP_001137454.1|NP_660277.2 Q9BU40 CRDL1_HUMAN chordin-like 1 143 VWFC 2. BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1) 31 ACACGTTTCCCTCCTGCCAAG 0.463 22 6 --- --- --- --- KIF1B 23095 broad.mit.edu 37 1 10364565 10364566 + Frame_Shift_Ins INS - - A TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr1:10364565_10364566insA ENST00000377093.4 + 21 3475_3476 c.3322_3323insA c.(3322-3324)cagfs p.Q1108fs KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Frame_Shift_Ins_p.Q1108fs|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000263934.6_Intron NM_183416.3 NP_904325.2 O60333 KIF1B_HUMAN kinesin family member 1B 0 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) CACTGGAGGTCAGTTAGAGGGC 0.505 35 29 --- --- --- --- FMN2 56776 broad.mit.edu 37 1 240256589 240256591 + In_Frame_Del DEL GCC GCC - TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr1:240256589_240256591delGCC ENST00000319653.9 + 1 1410_1412 c.1180_1182delGCC c.(1180-1182)gccdel p.A395del NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 395 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CGCCCCCGCGGCCGCTTCCCTGC 0.719 16 21 --- --- --- --- ARFGEF1 10565 broad.mit.edu 37 8 68255450 68255453 + Frame_Shift_Del DEL CTTC CTTC - TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr8:68255450_68255453delCTTC ENST00000262215.3 - 1 459_462 c.70_73delGAAG c.(70-75)gaagtgfs p.EV24fs NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 24 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) GCCTTCTTCACTTCCTTGTCGGCC 0.623 35 44 --- --- --- --- GAD2 2572 broad.mit.edu 37 10 26581461 26581462 + Frame_Shift_Ins INS - - A TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr10:26581461_26581462insA ENST00000376261.3 + 14 1957_1958 c.1454_1455insA c.(1453-1458)ataaaafs p.IK485fs GAD2_ENST00000259271.3_Frame_Shift_Ins_p.IK485fs NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 485 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) TACAACATCATAAAAAACCGAG 0.396 12 111 --- --- --- --- CCDC113 29070 broad.mit.edu 37 16 58301442 58301468 + In_Frame_Del DEL AAAAGAGCTACTTGAAAAAATTGAAAA AAAAGAGCTACTTGAAAAAATTGAAAA - TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr16:58301442_58301468delAAAAGAGCTACTTGAAAAAATTGAAAA ENST00000219299.4 + 7 922_948 c.843_869delAAAAGAGCTACTTGAAAAAATTGAAAA c.(841-870)agaaaagagctacttgaaaaaattgaaaaa>aga p.KELLEKIEK282del CCDC113_ENST00000443128.2_In_Frame_Del_p.KELLEKIEK228del NM_014157.3 NP_054876.2 Q9H0I3 CC113_HUMAN coiled-coil domain containing 113 282 protein complex large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1) 12 TCTTGCTGAGAAAAGAGCTACTTGAAAAAATTGAAAAAGAAACACTA 0.396 27 79 --- --- --- --- CDK12 51755 broad.mit.edu 37 17 37676253 37676254 + Frame_Shift_Del DEL TA TA - TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr17:37676253_37676254delTA ENST00000447079.4 + 11 3041_3042 c.3008_3009delTA c.(3007-3009)ctafs p.L1003fs CDK12_ENST00000430627.2_Frame_Shift_Del_p.L1003fs NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 1003 Protein kinase. mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 ATGCTGACACTAGATCCTAGTA 0.450 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 56 91 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45234690 45234706 + Frame_Shift_Del DEL CAGTTGCTAAAGTTCTG CAGTTGCTAAAGTTCTG - rs113608268 TCGA-KK-A8ID-01A-11D-A364-08 TCGA-KK-A8ID-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 434c8d21-e732-4485-a382-84e8abf8bdb5 686e0817-587f-49c3-b654-8141a09dd79b g.chr17:45234690_45234706delCAGTTGCTAAAGTTCTG ENST00000066544.3 - 6 613_629 c.520_536delCAGAACTTTAGCAACTG c.(520-537)cagaactttagcaactgtfs p.QNFSNC174fs CDC27_ENST00000527547.1_Frame_Shift_Del_p.QNFSNC174fs|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Frame_Shift_Del_p.QNFSNC174fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.QNFSNC113fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 174 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 GTTGGGCAGACAGTTGCTAAAGTTCTGTAAAGATGTG 0.387 9 85 --- --- --- ---