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 DPH2 1802 broad.mit.edu 37 1 44437269 44437269 + Missense_Mutation SNP C C G TCGA-EJ-5515-01A-01D-1576-08 TCGA-EJ-5515-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42d70e0-8083-4d69-a63f-2ae7331dd8f5 b1c94201-9a51-43a9-8d6c-75e8f0ef7420 g.chr1:44437269C>G ENST00000255108.3 + 4 867 c.695C>G c.(694-696)cCa>cGa p.P232R DPH2_ENST00000412950.2_Missense_Mutation_p.P97R|DPH2_ENST00000396758.2_Intron|DPH2_ENST00000529729.1_3'UTR NM_001384.4 NP_001375.2 Q9BQC3 DPH2_HUMAN DPH2 homolog (S. cerevisiae) 232 peptidyl-diphthamide biosynthetic process from peptidyl-histidine cytoplasm autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1) 19 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) GACCTTGACCCAGACCTGAGT 0.622 4 141 --- --- --- --- SYT11 23208 broad.mit.edu 37 1 155838359 155838359 + Missense_Mutation SNP G G C TCGA-EJ-5515-01A-01D-1576-08 TCGA-EJ-5515-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42d70e0-8083-4d69-a63f-2ae7331dd8f5 b1c94201-9a51-43a9-8d6c-75e8f0ef7420 g.chr1:155838359G>C ENST00000368324.4 + 2 891 c.638G>C c.(637-639)aGa>aCa p.R213T SYT11_ENST00000539162.1_Intron NM_152280.4 NP_689493.3 Q9BT88 SYT11_HUMAN synaptotagmin XI 213 C2 1. cell junction|synaptic vesicle membrane protein binding|transporter activity p.R213T(1) breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) GTGAAGACCAGAGTGCTGCGG 0.572 3 76 --- --- --- --- EIF5B 9669 broad.mit.edu 37 2 99985894 99985894 + Missense_Mutation SNP T T C TCGA-EJ-5515-01A-01D-1576-08 TCGA-EJ-5515-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42d70e0-8083-4d69-a63f-2ae7331dd8f5 b1c94201-9a51-43a9-8d6c-75e8f0ef7420 g.chr2:99985894T>C ENST00000289371.6 + 8 1629 c.1427T>C c.(1426-1428)aTg>aCg p.M476T NM_015904.3 NP_056988.3 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity p.M476T(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GTAGAAGTTATGGAACAAGGA 0.353 7 62 --- --- --- --- SLC6A18 348932 broad.mit.edu 37 5 1239617 1239617 + Missense_Mutation SNP T T C TCGA-EJ-5515-01A-01D-1576-08 TCGA-EJ-5515-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42d70e0-8083-4d69-a63f-2ae7331dd8f5 b1c94201-9a51-43a9-8d6c-75e8f0ef7420 g.chr5:1239617T>C ENST00000324642.3 + 6 908 c.785T>C c.(784-786)tTc>tCc p.F262S SLC6A18_ENST00000296821.4_Missense_Mutation_p.F257S NM_182632.2 NP_872438.2 Q96N87 S6A18_HUMAN solute carrier family 6 (neutral amino acid transporter), member 18 262 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) ACCCAGATATTCTTCTCTCTG 0.572 3 150 --- --- --- --- HGF 3082 broad.mit.edu 37 7 81359036 81359036 + Missense_Mutation SNP G G T TCGA-EJ-5515-01A-01D-1576-08 TCGA-EJ-5515-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42d70e0-8083-4d69-a63f-2ae7331dd8f5 b1c94201-9a51-43a9-8d6c-75e8f0ef7420 g.chr7:81359036G>T ENST00000222390.5 - 8 1151 c.925C>A c.(925-927)Caa>Aaa p.Q309K HGF_ENST00000457544.2_Missense_Mutation_p.Q304K NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 309 Kringle 3. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity p.Q309K(1) NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 CCTTCTCCTTGACCTTGGATG 0.398 10 130 --- --- --- --- FBXO10 26267 broad.mit.edu 37 9 37516001 37516001 + Missense_Mutation SNP T T C TCGA-EJ-5515-01A-01D-1576-08 TCGA-EJ-5515-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42d70e0-8083-4d69-a63f-2ae7331dd8f5 b1c94201-9a51-43a9-8d6c-75e8f0ef7420 g.chr9:37516001T>C ENST00000432825.2 - 10 2644 c.2596A>G c.(2596-2598)Atc>Gtc p.I866V FBXO10_ENST00000541829.1_Missense_Mutation_p.I391V|RP11-613M10.8_ENST00000544475.1_5'UTR NM_012166.2 NP_036298.2 Q9UK96 FBX10_HUMAN F-box protein 10 866 ubiquitin ligase complex ubiquitin-protein ligase activity breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 34 GBM - Glioblastoma multiforme(29;0.0107) TGGAAGATGATGTTTTCCTGC 0.522 4 141 --- --- --- --- RNF20 56254 broad.mit.edu 37 9 104314514 104314514 + Missense_Mutation SNP A A T TCGA-EJ-5515-01A-01D-1576-08 TCGA-EJ-5515-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42d70e0-8083-4d69-a63f-2ae7331dd8f5 b1c94201-9a51-43a9-8d6c-75e8f0ef7420 g.chr9:104314514A>T ENST00000389120.3 + 12 1590 c.1500A>T c.(1498-1500)aaA>aaT p.K500N NM_019592.5 NP_062538.5 Q5VTR2 BRE1A_HUMAN ring finger protein 20, E3 ubiquitin protein ligase 500 histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding p.K500N(1) breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) ATAAGCGGAAATTGAGAGAAG 0.448 7 105 --- --- --- --- RC3H2 54542 broad.mit.edu 37 9 125613481 125613481 + Missense_Mutation SNP T T C TCGA-EJ-5515-01A-01D-1576-08 TCGA-EJ-5515-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42d70e0-8083-4d69-a63f-2ae7331dd8f5 b1c94201-9a51-43a9-8d6c-75e8f0ef7420 g.chr9:125613481T>C ENST00000373670.1 - 19 3859 c.3259A>G c.(3259-3261)Agt>Ggt p.S1087G RC3H2_ENST00000357244.2_Missense_Mutation_p.S1087G Q9HBD1 RC3H2_HUMAN ring finger and CCCH-type domains 2 1087 cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding p.S1087G(1) breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 TTTTGAGAACTGATACCAAGC 0.363 7 129 --- --- --- --- CD248 57124 broad.mit.edu 37 11 66082756 66082756 + Silent SNP C C T TCGA-EJ-5515-01A-01D-1576-08 TCGA-EJ-5515-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42d70e0-8083-4d69-a63f-2ae7331dd8f5 b1c94201-9a51-43a9-8d6c-75e8f0ef7420 g.chr11:66082756C>T ENST00000311330.3 - 1 1759 c.1743G>A c.(1741-1743)caG>caA p.Q581Q RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 581 Pro-rich. integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding p.Q581Q(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) TAATGGGAAGCTGGGTGGCCT 0.632 10 177 --- --- --- --- ACAT1 38 broad.mit.edu 37 11 108002646 108002646 + Missense_Mutation SNP G G T TCGA-EJ-5515-01A-01D-1576-08 TCGA-EJ-5515-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42d70e0-8083-4d69-a63f-2ae7331dd8f5 b1c94201-9a51-43a9-8d6c-75e8f0ef7420 g.chr11:108002646G>T ENST00000265838.4 + 2 176 c.85G>T c.(85-87)Gtg>Ttg p.V29L ACAT1_ENST00000526119.1_3'UTR|ACAT1_ENST00000299355.6_Missense_Mutation_p.V29L NM_000019.3 NP_000010.1 P24752 THIL_HUMAN acetyl-CoA acetyltransferase 1 29 acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process mitochondrial matrix acetyl-CoA C-acetyltransferase activity|metal ion binding p.V29L(1) endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2) 10 all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192) Sulfasalazine(DB00795) AATAAGATATGTGGAACGGAG 0.229 3 55 --- --- --- --- RTL1 388015 broad.mit.edu 37 14 101348187 101348187 + Missense_Mutation SNP T T C TCGA-EJ-5515-01A-01D-1576-08 TCGA-EJ-5515-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42d70e0-8083-4d69-a63f-2ae7331dd8f5 b1c94201-9a51-43a9-8d6c-75e8f0ef7420 g.chr14:101348187T>C ENST00000534062.1 - 1 2997 c.2939A>G c.(2938-2940)gAc>gGc p.D980G NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 980 p.D980G(1) breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 CTCCATGACGTCAAAGTTGAA 0.557 3 101 --- --- --- --- CLK3 1198 broad.mit.edu 37 15 74914890 74914890 + Missense_Mutation SNP G G C TCGA-EJ-5515-01A-01D-1576-08 TCGA-EJ-5515-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42d70e0-8083-4d69-a63f-2ae7331dd8f5 b1c94201-9a51-43a9-8d6c-75e8f0ef7420 g.chr15:74914890G>C ENST00000395066.3 + 5 1427 c.966G>C c.(964-966)ttG>ttC p.L322F CLK3_ENST00000345005.4_Missense_Mutation_p.L174F|CLK3_ENST00000352989.5_Intron|CLK3_ENST00000348245.3_Missense_Mutation_p.W142S NM_001130028.1 NP_001123500.1 P49761 CLK3_HUMAN CDC-like kinase 3 322 Protein kinase. acrosomal vesicle|nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.L174F(2)|p.L322F(1) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1) 15 TGGAGTGCTTGGACCATGCCA 0.567 5 114 --- --- --- --- TOX3 27324 broad.mit.edu 37 16 52484402 52484402 + Silent SNP C C T TCGA-EJ-5515-01A-01D-1576-08 TCGA-EJ-5515-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42d70e0-8083-4d69-a63f-2ae7331dd8f5 b1c94201-9a51-43a9-8d6c-75e8f0ef7420 g.chr16:52484402C>T ENST00000219746.9 - 4 749 c.465G>A c.(463-465)cgG>cgA p.R155R TOX3_ENST00000407228.3_Silent_p.R150R NM_001080430.2 NP_001073899.2 O15405 TOX3_HUMAN TOX high mobility group box family member 3 155 apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity p.R155R(1)|p.R150R(1) NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1) 24 GGACGATGGACCGCATGATCA 0.562 5 102 --- --- --- --- EPN2 22905 broad.mit.edu 37 17 19235303 19235303 + Missense_Mutation SNP G G A TCGA-EJ-5515-01A-01D-1576-08 TCGA-EJ-5515-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42d70e0-8083-4d69-a63f-2ae7331dd8f5 b1c94201-9a51-43a9-8d6c-75e8f0ef7420 g.chr17:19235303G>A ENST00000314728.5 + 10 2033 c.1549G>A c.(1549-1551)Gcg>Acg p.A517T EPN2_ENST00000395626.1_Intron|EPN2_ENST00000395618.3_Missense_Mutation_p.A232T|EPN2_ENST00000395620.2_Missense_Mutation_p.A460T|EPN2_ENST00000347697.2_Missense_Mutation_p.A460T|EPN2_ENST00000575595.1_Missense_Mutation_p.A225T|EPN2_ENST00000571254.1_Missense_Mutation_p.A453T NM_014964.4 NP_055779.2 O95208 EPN2_HUMAN epsin 2 517 6 X 3 AA repeats of [DE]-P-W. endocytosis lipid binding p.A517T(1) breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 19 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) GGGCCCCAACGCGGCCCTGGT 0.627 4 134 --- --- --- --- SLFN11 91607 broad.mit.edu 37 17 33690215 33690215 + Silent SNP G G T TCGA-EJ-5515-01A-01D-1576-08 TCGA-EJ-5515-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42d70e0-8083-4d69-a63f-2ae7331dd8f5 b1c94201-9a51-43a9-8d6c-75e8f0ef7420 g.chr17:33690215G>T ENST00000394566.1 - 4 884 c.612C>A c.(610-612)atC>atA p.I204I SLFN11_ENST00000308377.4_Silent_p.I204I NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1 NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1 Q7Z7L1 SLN11_HUMAN schlafen family member 11 204 nucleus ATP binding p.I204I(2) autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GAAAAGGCAGGATTTCACCAT 0.413 7 171 --- --- --- --- ALPK2 115701 broad.mit.edu 37 18 56246150 56246150 + Missense_Mutation SNP C C A TCGA-EJ-5515-01A-01D-1576-08 TCGA-EJ-5515-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42d70e0-8083-4d69-a63f-2ae7331dd8f5 b1c94201-9a51-43a9-8d6c-75e8f0ef7420 g.chr18:56246150C>A ENST00000361673.3 - 4 2071 c.1858G>T c.(1858-1860)Gac>Tac p.D620Y ALPK2_ENST00000587399.1_5'UTR NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 620 ATP binding|protein serine/threonine kinase activity p.D620Y(1) NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 GAGACTGAGTCTGTTGAAGTT 0.473 OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 160 --- --- --- --- ZNF813 126017 broad.mit.edu 37 19 53993763 53993763 + Missense_Mutation SNP G G C TCGA-EJ-5515-01A-01D-1576-08 TCGA-EJ-5515-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42d70e0-8083-4d69-a63f-2ae7331dd8f5 b1c94201-9a51-43a9-8d6c-75e8f0ef7420 g.chr19:53993763G>C ENST00000396403.4 + 4 405 c.277G>C c.(277-279)Gat>Cat p.D93H ZNF813_ENST00000396421.4_Intron NM_001004301.3 NP_001004301.2 Q6ZN06 ZN813_HUMAN zinc finger protein 813 93 D -> V (in dbSNP:rs12609217). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.D93H(1) large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) AATTGATAAAGATATTCATAA 0.398 11 145 --- --- --- --- KCNG1 3755 broad.mit.edu 37 20 49620863 49620863 + Missense_Mutation SNP C C A TCGA-EJ-5515-01A-01D-1576-08 TCGA-EJ-5515-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42d70e0-8083-4d69-a63f-2ae7331dd8f5 b1c94201-9a51-43a9-8d6c-75e8f0ef7420 g.chr20:49620863C>A ENST00000371571.4 - 3 1540 c.1255G>T c.(1255-1257)Gtc>Ttc p.V419F RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'UTR NM_002237.3 NP_002228.2 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, member 1 419 voltage-gated potassium channel complex voltage-gated potassium channel activity p.V419F(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 ATGGTGATGACAGCCCACCAG 0.647 5 81 --- --- --- --- DKC1 1736 broad.mit.edu 37 X 153994551 153994551 + Missense_Mutation SNP G G C TCGA-EJ-5515-01A-01D-1576-08 TCGA-EJ-5515-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx b42d70e0-8083-4d69-a63f-2ae7331dd8f5 b1c94201-9a51-43a9-8d6c-75e8f0ef7420 g.chrX:153994551G>C ENST00000369550.5 + 5 534 c.324G>C c.(322-324)tgG>tgC p.W108C NM_001142463.1|NM_001363.3 NP_001135935.1|NP_001354.1 O60832 DKC1_HUMAN dyskeratosis congenita 1, dyskerin 108 cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase Cajal body|nucleolus|telomerase holoenzyme complex protein binding|pseudouridine synthase activity|RNA binding|telomerase activity p.W108C(2) breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1) 15 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TGGTAGCCTGGATTCGACGGA 0.478 Congenital Dyskeratosis 5 59 --- --- --- ---