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 KIF1B 23095 broad.mit.edu 37 1 10363477 10363477 + Missense_Mutation SNP A A T TCGA-G9-6385-01A-11D-1786-08 TCGA-G9-6385-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe227d04-2285-41ff-b5b8-421a317a61c7 fc787cb2-b174-4f58-b4db-22eb3d987661 g.chr1:10363477A>T ENST00000377093.4 + 21 2387 c.2234A>T c.(2233-2235)tAt>tTt p.Y745F KIF1B_ENST00000377083.1_Missense_Mutation_p.Y745F|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377086.1_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 p.Y745F(1) 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) GAGATTTGCTATGAGGTTGCT 0.438 6 71 --- --- --- --- FLG2 388698 broad.mit.edu 37 1 152326999 152326999 + Missense_Mutation SNP C C T TCGA-G9-6385-01A-11D-1786-08 TCGA-G9-6385-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe227d04-2285-41ff-b5b8-421a317a61c7 fc787cb2-b174-4f58-b4db-22eb3d987661 g.chr1:152326999C>T ENST00000388718.5 - 3 3335 c.3263G>A c.(3262-3264)gGc>gAc p.G1088D FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1088 Ser-rich. calcium ion binding|structural molecule activity p.G1088D(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTGACCATAGCCAGATGATTG 0.498 11 381 --- --- --- --- OR2G6 391211 broad.mit.edu 37 1 248685655 248685655 + Missense_Mutation SNP G G C TCGA-G9-6385-01A-11D-1786-08 TCGA-G9-6385-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe227d04-2285-41ff-b5b8-421a317a61c7 fc787cb2-b174-4f58-b4db-22eb3d987661 g.chr1:248685655G>C ENST00000343414.4 + 1 740 c.708G>C c.(706-708)aaG>aaC p.K236N NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 236 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.K236N(1) NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCCGCCAAAAGGCCTTTGGGA 0.458 17 65 --- --- --- --- AMBN 258 broad.mit.edu 37 4 71472192 71472192 + Silent SNP C C A TCGA-G9-6385-01A-11D-1786-08 TCGA-G9-6385-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe227d04-2285-41ff-b5b8-421a317a61c7 fc787cb2-b174-4f58-b4db-22eb3d987661 g.chr4:71472192C>A ENST00000322937.6 + 13 1192 c.1089C>A c.(1087-1089)ggC>ggA p.G363G AMBN_ENST00000449493.2_Silent_p.G348G NM_016519.5 NP_057603.1 Q9NP70 AMBN_HUMAN ameloblastin (enamel matrix protein) 363 bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth proteinaceous extracellular matrix growth factor activity|structural constituent of tooth enamel p.G363G(2) NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1) 29 Lung(101;0.235) ACATTCCCGGCCTGCCAAGGA 0.557 3 37 --- --- --- --- PCDHGB7 56099 broad.mit.edu 37 5 140798766 140798766 + Missense_Mutation SNP A A G TCGA-G9-6385-01A-11D-1786-08 TCGA-G9-6385-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe227d04-2285-41ff-b5b8-421a317a61c7 fc787cb2-b174-4f58-b4db-22eb3d987661 g.chr5:140798766A>G ENST00000398594.2 + 1 1340 c.1340A>G c.(1339-1341)gAc>gGc p.D447G PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron NM_018927.3 NP_061750.1 p.D447G(1) central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3) 56 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACGTCAATGACAACGCGCCG 0.572 7 54 --- --- --- --- FAT2 2196 broad.mit.edu 37 5 150922324 150922324 + Silent SNP T T C rs35581702 TCGA-G9-6385-01A-11D-1786-08 TCGA-G9-6385-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe227d04-2285-41ff-b5b8-421a317a61c7 fc787cb2-b174-4f58-b4db-22eb3d987661 g.chr5:150922324T>C ENST00000261800.5 - 9 8376 c.8364A>G c.(8362-8364)ggA>ggG p.G2788G NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2788 Cadherin 24. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CATTGACGTCTCCCACTTGGA 0.478 3 181 --- --- --- --- NOTCH4 4855 broad.mit.edu 37 6 32163814 32163814 + Missense_Mutation SNP C C T TCGA-G9-6385-01A-11D-1786-08 TCGA-G9-6385-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe227d04-2285-41ff-b5b8-421a317a61c7 fc787cb2-b174-4f58-b4db-22eb3d987661 g.chr6:32163814C>T ENST00000443903.2 - 3 541 c.541G>A c.(541-543)Gga>Aga p.G181R NOTCH4_ENST00000375023.3_Silent_p.A1804A Q99466 NOTC4_HUMAN notch 4 1180 EGF-like 4. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity p.A1804A(1) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GAGCGACGTCCGCCGGCGCTA 0.701 3 11 --- --- --- --- ZNF292 23036 broad.mit.edu 37 6 87943091 87943091 + Missense_Mutation SNP T T A TCGA-G9-6385-01A-11D-1786-08 TCGA-G9-6385-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe227d04-2285-41ff-b5b8-421a317a61c7 fc787cb2-b174-4f58-b4db-22eb3d987661 g.chr6:87943091T>A ENST00000369577.3 + 5 630 c.587T>A c.(586-588)aTt>aAt p.I196N ZNF292_ENST00000339907.4_Missense_Mutation_p.I191N NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.I196N(1)|p.I51N(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) GATATGAGAATTAAACATCTA 0.313 3 69 --- --- --- --- SMU1 55234 broad.mit.edu 37 9 33056918 33056918 + Silent SNP C C T TCGA-G9-6385-01A-11D-1786-08 TCGA-G9-6385-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe227d04-2285-41ff-b5b8-421a317a61c7 fc787cb2-b174-4f58-b4db-22eb3d987661 g.chr9:33056918C>T ENST00000397149.3 - 8 962 c.912G>A c.(910-912)agG>agA p.R304R SMU1_ENST00000536631.1_Silent_p.R143R NM_018225.2 NP_060695.2 Q2TAY7 SMU1_HUMAN smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) 304 cytoplasm|nucleus p.R304R(1) endometrium(2)|lung(4)|ovary(2)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.11) TACTGTGTGCCCTCTCAAATC 0.353 12 174 --- --- --- --- APBB1 322 broad.mit.edu 37 11 6432291 6432291 + Missense_Mutation SNP G G A rs138898127 byFrequency TCGA-G9-6385-01A-11D-1786-08 TCGA-G9-6385-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe227d04-2285-41ff-b5b8-421a317a61c7 fc787cb2-b174-4f58-b4db-22eb3d987661 g.chr11:6432291G>A ENST00000389906.2 - 2 386 c.287C>T c.(286-288)gCg>gTg p.A96V APBB1_ENST00000609360.1_Missense_Mutation_p.A96V|APBB1_ENST00000311051.3_Missense_Mutation_p.A96V|APBB1_ENST00000299402.6_Missense_Mutation_p.A96V O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 96 apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding p.A96V(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) GGCCTCCTCCGCCAAGGTCAA 0.632 10 308 --- --- --- --- ATP5B 506 broad.mit.edu 37 12 57032140 57032140 + Silent SNP T T C TCGA-G9-6385-01A-11D-1786-08 TCGA-G9-6385-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe227d04-2285-41ff-b5b8-421a317a61c7 fc787cb2-b174-4f58-b4db-22eb3d987661 g.chr12:57032140T>C ENST00000262030.3 - 10 1607 c.1557A>G c.(1555-1557)aaA>aaG p.K519K ATP5B_ENST00000552919.1_Silent_p.K508K NM_001686.3 NP_001677.2 P06576 ATPB_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide 519 angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GCTTATCAGCTTTTGCCACAG 0.448 3 215 --- --- --- --- CTDSP2 10106 broad.mit.edu 37 12 58223322 58223322 + Missense_Mutation SNP A A G TCGA-G9-6385-01A-11D-1786-08 TCGA-G9-6385-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe227d04-2285-41ff-b5b8-421a317a61c7 fc787cb2-b174-4f58-b4db-22eb3d987661 g.chr12:58223322A>G ENST00000398073.2 - 2 425 c.122T>C c.(121-123)cTt>cCt p.L41P CTDSP2_ENST00000548823.1_Intron|CTDSP2_ENST00000547701.1_5'UTR NM_005730.3 NP_005721.3 O14595 CTDS2_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 41 protein dephosphorylation nucleus|soluble fraction CTD phosphatase activity|metal ion binding p.L41P(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2) 7 all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122) ACAGCAGAAAAGGGCCTTGAA 0.532 3 123 --- --- --- --- LGR5 8549 broad.mit.edu 37 12 71977709 71977709 + Missense_Mutation SNP T T C TCGA-G9-6385-01A-11D-1786-08 TCGA-G9-6385-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe227d04-2285-41ff-b5b8-421a317a61c7 fc787cb2-b174-4f58-b4db-22eb3d987661 g.chr12:71977709T>C ENST00000266674.5 + 18 2230 c.1919T>C c.(1918-1920)aTt>aCt p.I640T LGR5_ENST00000536515.1_Missense_Mutation_p.I568T|LGR5_ENST00000540815.2_Missense_Mutation_p.I616T O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 640 integral to plasma membrane protein-hormone receptor activity p.I640T(1) NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 TGCCATGTCATTGGTTTTTTG 0.493 21 57 --- --- --- --- APOPT1 84334 broad.mit.edu 37 14 104056568 104056568 + Missense_Mutation SNP C C A TCGA-G9-6385-01A-11D-1786-08 TCGA-G9-6385-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe227d04-2285-41ff-b5b8-421a317a61c7 fc787cb2-b174-4f58-b4db-22eb3d987661 g.chr14:104056568C>A ENST00000409074.2 + 5 567 c.566C>A c.(565-567)gCc>gAc p.A189D APOPT1_ENST00000247618.4_Missense_Mutation_p.A176D|APOPT1_ENST00000477116.1_3'UTR|RP11-73M18.2_ENST00000472726.2_Intron|APOPT1_ENST00000556253.2_3'UTR NM_032374.3 NP_115750.2 apoptogenic 1, mitochondrial GGAAAAGTGGCCCTGGAAAGG 0.498 4 191 --- --- --- --- NFE2L1 4779 broad.mit.edu 37 17 46128887 46128887 + Missense_Mutation SNP C C A TCGA-G9-6385-01A-11D-1786-08 TCGA-G9-6385-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe227d04-2285-41ff-b5b8-421a317a61c7 fc787cb2-b174-4f58-b4db-22eb3d987661 g.chr17:46128887C>A ENST00000362042.3 + 2 1023 c.407C>A c.(406-408)cCa>cAa p.P136Q NFE2L1_ENST00000357480.5_Missense_Mutation_p.P136Q|NFE2L1_ENST00000361665.3_Missense_Mutation_p.P136Q|NFE2L1_ENST00000585291.1_Missense_Mutation_p.P136Q NM_003204.2 NP_003195.1 Q14494 NF2L1_HUMAN nuclear factor, erythroid 2-like 1 136 Asp/Glu-rich (acidic). anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity p.P136Q(1) cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GTGACAGGCCCAGACAACGGG 0.592 4 88 --- --- --- --- ZNF562 54811 broad.mit.edu 37 19 9771402 9771402 + Missense_Mutation SNP A A T TCGA-G9-6385-01A-11D-1786-08 TCGA-G9-6385-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe227d04-2285-41ff-b5b8-421a317a61c7 fc787cb2-b174-4f58-b4db-22eb3d987661 g.chr19:9771402A>T ENST00000448622.1 - 2 181 c.19T>A c.(19-21)Tcc>Acc p.S7T ZNF562_ENST00000453372.2_Missense_Mutation_p.S7T|ZNF562_ENST00000587392.1_Missense_Mutation_p.S7T|ZNF562_ENST00000590155.1_Missense_Mutation_p.S7T|ZNF562_ENST00000293648.4_Missense_Mutation_p.S7T|ZNF562_ENST00000541032.1_5'UTR|ZNF562_ENST00000537617.1_5'UTR|ZNF562_ENST00000453792.2_Intron NM_001130031.1|NM_001130032.1 NP_001123503.1|NP_001123504.1 Q6V9R5 ZN562_HUMAN zinc finger protein 562 7 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S7T(2) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 17 TTACCATGGGACATATCAAAG 0.488 5 213 --- --- --- --- CCDC105 126402 broad.mit.edu 37 19 15131324 15131324 + Missense_Mutation SNP C C A TCGA-G9-6385-01A-11D-1786-08 TCGA-G9-6385-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe227d04-2285-41ff-b5b8-421a317a61c7 fc787cb2-b174-4f58-b4db-22eb3d987661 g.chr19:15131324C>A ENST00000292574.3 + 3 809 c.727C>A c.(727-729)Caa>Aaa p.Q243K NM_173482.2 NP_775753.2 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 243 microtubule cytoskeleton organization microtubule p.Q243K(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2) 23 GGAGCGGCTCCAAGCCGTGGA 0.617 4 39 --- --- --- --- ZNF766 90321 broad.mit.edu 37 19 52793389 52793389 + Silent SNP G G A TCGA-G9-6385-01A-11D-1786-08 TCGA-G9-6385-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe227d04-2285-41ff-b5b8-421a317a61c7 fc787cb2-b174-4f58-b4db-22eb3d987661 g.chr19:52793389G>A ENST00000439461.1 + 4 388 c.345G>A c.(343-345)caG>caA p.Q115Q ZNF766_ENST00000593612.1_Silent_p.Q130Q|ZNF766_ENST00000599581.1_3'UTR|ZNF766_ENST00000359102.4_Silent_p.Q130Q|CTD-2525I3.5_ENST00000594865.1_RNA NM_001010851.2 NP_001010851.1 Q5HY98 ZN766_HUMAN zinc finger protein 766 115 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q115Q(1) breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 17 GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871) TAACCTTTCAGTTACCTCTGC 0.398 4 67 --- --- --- --- CCT8L2 150160 broad.mit.edu 37 22 17072553 17072553 + Missense_Mutation SNP C C A TCGA-G9-6385-01A-11D-1786-08 TCGA-G9-6385-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe227d04-2285-41ff-b5b8-421a317a61c7 fc787cb2-b174-4f58-b4db-22eb3d987661 g.chr22:17072553C>A ENST00000359963.3 - 1 1147 c.888G>T c.(886-888)ttG>ttT p.L296F NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 296 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CGACCTCCCCCAACACCACTG 0.493 5 233 --- --- --- ---