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 SESN2 83667 broad.mit.edu 37 1 28598206 28598206 + Missense_Mutation SNP A A C TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr1:28598206A>C ENST00000253063.3 + 3 499 c.178A>C c.(178-180)Agc>Cgc p.S60R NM_031459.4 NP_113647.1 P58004 SESN2_HUMAN sestrin 2 60 cell cycle arrest cytoplasm|nucleus cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649) GGGGGCTGAGAGCCTCGAGCA 0.592 5 61 --- --- --- --- ELOVL1 64834 broad.mit.edu 37 1 43830879 43830879 + Missense_Mutation SNP A A T TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr1:43830879A>T ENST00000372458.3 - 3 332 c.215T>A c.(214-216)cTc>cAc p.L72H ELOVL1_ENST00000470769.1_5'UTR|ELOVL1_ENST00000413844.2_Missense_Mutation_p.L72H NM_001256399.1|NM_001256402.1|NM_022821.3 NP_001243328.1|NP_001243331.1|NP_073732.1 Q9BW60 ELOV1_HUMAN ELOVL fatty acid elongase 1 72 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane fatty acid elongase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|prostate(1) 4 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GTAGAGGGAGAGTGCCACCAG 0.532 12 24 --- --- --- --- SCYL3 57147 broad.mit.edu 37 1 169839411 169839411 + Missense_Mutation SNP T T G TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr1:169839411T>G ENST00000367771.6 - 6 824 c.610A>C c.(610-612)Atc>Ctc p.I204L SCYL3_ENST00000367772.4_Missense_Mutation_p.I204L|SCYL3_ENST00000367770.1_Missense_Mutation_p.I204L|SCYL3_ENST00000470238.1_5'UTR NM_020423.6 NP_065156.5 Q8IZE3 PACE1_HUMAN SCY1-like 3 (S. cerevisiae) Protein kinase. cell migration Golgi apparatus|lamellipodium ATP binding|protein binding|protein kinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TCATTTAAGATTGTGAGCAAA 0.408 9 63 --- --- --- --- FAM179A 165186 broad.mit.edu 37 2 29268261 29268261 + Missense_Mutation SNP A A T TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr2:29268261A>T ENST00000379558.4 + 19 3058 c.2707A>T c.(2707-2709)Aca>Tca p.T903S FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.T848S NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 903 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GCTGGATGTCACAGATCGCCT 0.587 11 80 --- --- --- --- GIGYF2 26058 broad.mit.edu 37 2 233655777 233655777 + Missense_Mutation SNP A A T TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr2:233655777A>T ENST00000373566.3 + 12 1253 c.1056A>T c.(1054-1056)gaA>gaT p.E352D GIGYF2_ENST00000373563.4_Missense_Mutation_p.E330D|GIGYF2_ENST00000409547.1_Missense_Mutation_p.E330D|GIGYF2_ENST00000452341.2_Missense_Mutation_p.E161D|GIGYF2_ENST00000409480.1_Missense_Mutation_p.E352D|GIGYF2_ENST00000409451.3_Missense_Mutation_p.E352D|GIGYF2_ENST00000409196.3_Missense_Mutation_p.E324D Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 330 cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) CTGTGGACGAAGGGGAGGAGT 0.448 3 43 --- --- --- --- FILIP1L 11259 broad.mit.edu 37 3 99569210 99569210 + Missense_Mutation SNP C C G TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr3:99569210C>G ENST00000331335.5 - 5 1780 c.1310G>C c.(1309-1311)aGc>aCc p.S437T CMSS1_ENST00000421999.2_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.S197T|FILIP1L_ENST00000487087.1_Missense_Mutation_p.S13T|FILIP1L_ENST00000383694.2_Missense_Mutation_p.S197T|FILIP1L_ENST00000354552.3_Missense_Mutation_p.S437T|FILIP1L_ENST00000476723.1_Intron NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like 437 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 TTCTTGTTTGCTTTTGTTGAA 0.353 5 53 --- --- --- --- FILIP1L 11259 broad.mit.edu 37 3 99649664 99649664 + Silent SNP G G C TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr3:99649664G>C ENST00000331335.5 - 2 671 c.201C>G c.(199-201)ctC>ctG p.L67L CMSS1_ENST00000421999.2_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000354552.3_Silent_p.L67L|FILIP1L_ENST00000398326.2_Silent_p.L67L NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like 67 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 CATCTCTTGAGAGGTCTTCTG 0.512 3 20 --- --- --- --- G3BP2 9908 broad.mit.edu 37 4 76571629 76571629 + Missense_Mutation SNP C C T TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr4:76571629C>T ENST00000359707.4 - 11 1854 c.1069G>A c.(1069-1071)Gtt>Att p.V357I G3BP2_ENST00000395719.3_Missense_Mutation_p.V357I|G3BP2_ENST00000357854.3_Missense_Mutation_p.V324I NM_203505.2 NP_987101.1 Q9UN86 G3BP2_HUMAN GTPase activating protein (SH3 domain) binding protein 2 357 RRM. cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) AGTTCCACAACGTTTCCAAAA 0.358 7 191 --- --- --- --- HIST1H2BF 8343 broad.mit.edu 37 6 26199817 26199817 + Missense_Mutation SNP C C T rs80084141 TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr6:26199817C>T ENST00000359985.1 + 1 70 c.31C>T c.(31-33)Cca>Tca p.P11S NM_003522.3 NP_003513.1 P62807 H2B1C_HUMAN histone cluster 1, H2bf 11 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3) 17 all_hematologic(11;0.196) CGCTCCTGCTCCAAAAAAGGG 0.483 9 89 --- --- --- --- UHRF1BP1 54887 broad.mit.edu 37 6 34824168 34824168 + Missense_Mutation SNP C C T TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr6:34824168C>T ENST00000192788.5 + 10 1444 c.1273C>T c.(1273-1275)Ctc>Ttc p.L425F UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.L425F NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 425 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 AGTAGACTCTCTCTTTCGGAG 0.478 17 87 --- --- --- --- PGK2 5232 broad.mit.edu 37 6 49754653 49754653 + Missense_Mutation SNP A A G TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr6:49754653A>G ENST00000304801.3 - 1 400 c.248T>C c.(247-249)gTt>gCt p.V83A NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 83 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) TTTGAGCTCAACAGCAACAGG 0.517 15 90 --- --- --- --- VTA1 51534 broad.mit.edu 37 6 142490757 142490757 + Missense_Mutation SNP A A T TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr6:142490757A>T ENST00000367630.4 + 3 336 c.278A>T c.(277-279)tAt>tTt p.Y93F VTA1_ENST00000452973.2_Missense_Mutation_p.Y35F|VTA1_ENST00000367621.1_Missense_Mutation_p.Y35F NM_016485.3 NP_057569.2 Q9NP79 VTA1_HUMAN vesicle (multivesicular body) trafficking 1 93 Interaction with IST1. cellular membrane organization|endosome transport|protein transport cytosol|endosome membrane protein binding endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182) TTGGAGAATTATGCTTTGAAA 0.303 3 29 --- --- --- --- KCNT1 57582 broad.mit.edu 37 9 138657479 138657479 + Missense_Mutation SNP G G A TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr9:138657479G>A ENST00000298480.5 + 13 1284 c.1210G>A c.(1210-1212)Gtg>Atg p.V404M KCNT1_ENST00000263604.3_Missense_Mutation_p.V385M|KCNT1_ENST00000488444.2_Missense_Mutation_p.V385M|KCNT1_ENST00000486577.2_Missense_Mutation_p.V365M|KCNT1_ENST00000490355.2_Missense_Mutation_p.V385M|KCNT1_ENST00000491806.2_Missense_Mutation_p.V371M|KCNT1_ENST00000487664.1_Missense_Mutation_p.V359M|KCNT1_ENST00000371757.2_Missense_Mutation_p.V404M B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 404 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) GGACTATTACGTGGTCATCCT 0.662 7 20 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49434307 49434307 + Nonsense_Mutation SNP G G A TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr12:49434307G>A ENST00000301067.7 - 31 7245 c.7246C>T c.(7246-7248)Cag>Tag p.Q2416* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GACTGGGACTGAGGACTGGCA 0.647 4 31 --- --- --- --- FRS2 10818 broad.mit.edu 37 12 69968695 69968695 + Missense_Mutation SNP C C G TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr12:69968695C>G ENST00000299293.2 + 10 1997 c.1487C>G c.(1486-1488)tCt>tGt p.S496C FRS2_ENST00000550389.1_Missense_Mutation_p.S496C|FRS2_ENST00000549921.1_Missense_Mutation_p.S496C|FRS2_ENST00000397997.2_Missense_Mutation_p.S496C NM_001278351.1|NM_006654.3 NP_001265280.1|NP_006645.3 Q8WU20 FRS2_HUMAN fibroblast growth factor receptor substrate 2 496 activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway endomembrane system|endosome|integral to plasma membrane|membrane fraction fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) GATGGTACATCTAGGAAAACT 0.443 16 77 --- --- --- --- KERA 11081 broad.mit.edu 37 12 91449954 91449954 + Missense_Mutation SNP C C A TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr12:91449954C>A ENST00000266719.3 - 2 352 c.105G>T c.(103-105)tgG>tgT p.W35C NM_007035.3 NP_008966.1 O60938 KERA_HUMAN keratocan 35 LRRNT. response to stimulus|visual perception proteinaceous extracellular matrix breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2) 19 CATGAATAGTCCAATCATCTG 0.413 10 48 --- --- --- --- UTP20 27340 broad.mit.edu 37 12 101720875 101720875 + Missense_Mutation SNP A A G TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr12:101720875A>G ENST00000261637.4 + 26 3232 c.3058A>G c.(3058-3060)Atg>Gtg p.M1020V NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 1020 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 GTATGGGCGAATGAAGAATAA 0.433 30 49 --- --- --- --- HEATR6 63897 broad.mit.edu 37 17 58134531 58134531 + Missense_Mutation SNP G G A rs117309766 by1000genomes TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr17:58134531G>A ENST00000184956.6 - 12 1973 c.1957C>T c.(1957-1959)Ctc>Ttc p.L653F HEATR6_ENST00000585976.1_Missense_Mutation_p.L653F NM_022070.4 NP_071353.4 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 653 binding NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) AGTCGAATGAGCCAGCAGGGC 0.557 7 110 --- --- --- --- KCNQ5 56479 broad.mit.edu 37 6 73830210 73830210 + Frame_Shift_Del DEL T T - TCGA-KK-A6E5-01A-11D-A30X-08 TCGA-KK-A6E5-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a313eac-afe7-4317-ae67-a2eba7cd821f ae48940c-acd7-4556-ac88-e791eda0f5d0 g.chr6:73830210delT ENST00000342056.2 + 8 1528 c.1130delT c.(1129-1131)gttfs p.V377fs KCNQ5_ENST00000403813.2_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000414165.2_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000402622.2_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000370392.1_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000370398.1_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000355635.3_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000355194.4_Frame_Shift_Del_p.V377fs NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 377 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) ATGCAGTGTGTTTGGCGTAGT 0.413 8 26 --- --- --- ---