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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample KIAA0319L 79932 broad.mit.edu 37 1 35919962 35919962 + Splice_Site SNP C C G TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr1:35919962C>G uc001byx.2 - 11 2038 c.1780_splice c.e11+1 p.E594_splice KIAA0319L_uc001byw.2_Splice_Site_p.E31_splice|KIAA0319L_uc010ohv.1_Splice_Site_p.E236_splice NM_024874 NP_079150 Q8IZA0 K319L_HUMAN dyslexia susceptibility 2-like cytoplasmic vesicle part|integral to membrane protein binding skin(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CTGGAGCTTACCAGGTTGCAC 0.498 NaN 0 0 0 0.043863 0 16 96 GBP7 388646 broad.mit.edu 37 1 89637586 89637586 + Silent SNP C C A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr1:89637586C>A uc001dna.2 - 2 172 c.33G>T c.(31-33)GTG>GTT p.V11V NM_207398 NP_997281 Q8N8V2 GBP7_HUMAN guanylate binding protein 4-like 11 integral to membrane GTP binding|GTPase activity ovary(1)|skin(1) 2 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) CAGTGAGGCACACTGGGCCTG 0.483 NaN 1 0 0.000274275 0.047766 0.000287547 8 191 AMY2B 280 broad.mit.edu 37 1 104117881 104117881 + Missense_Mutation SNP C C A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr1:104117881C>A uc001duq.2 + 8 1531 c.915C>A c.(913-915)GAC>GAA p.D305E AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.D305E|AMY2B_uc001dus.1_5'Flank NM_020978 NP_066188 P19961 AMY2B_HUMAN amylase, pancreatic, alpha-2B precursor 305 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding 0 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) TGCCTTCTGACAGAGCACTTG 0.413 NaN 1 0 3.79751e-50 0.048971 4.57108e-50 116 233 C1orf103 55791 broad.mit.edu 37 1 111495013 111495013 + Missense_Mutation SNP C C T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr1:111495013C>T uc001eaa.2 - 2 749 c.493G>A c.(493-495)GTT>ATT p.V165I C1orf103_uc001dzz.2_Intron|C1orf103_uc001eab.2_Intron|C1orf103_uc001eac.1_Intron NM_018372 NP_060842 Q5T3J3 LRIF1_HUMAN receptor-interacting factor 1 isoform 1 165 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding 0 all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451) Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134) TGGGTATTAACTACAATAAAA 0.418 NaN 0 0 0 0.069234 0 10 66 RSBN1 54665 broad.mit.edu 37 1 114308928 114308928 + Silent SNP A A G TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr1:114308928A>G uc001edq.2 - 7 2119 c.2083T>C c.(2083-2085)TTA>CTA p.L695L RSBN1_uc001edr.2_RNA NM_018364 NP_060834 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 695 nucleus ovary(1) 1 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TGCCAGGCTAAGCTGCACACC 0.428 NaN 0 0 0 0.020292 0 15 131 HMCN1 83872 broad.mit.edu 37 1 186143685 186143685 + Missense_Mutation SNP A A G TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr1:186143685A>G uc001grq.1 + 103 16083 c.15854A>G c.(15853-15855)TAT>TGT p.Y5285C HMCN1_uc001grs.1_Missense_Mutation_p.Y854C NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 5285 EGF-like 5; calcium-binding (Potential). response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 CAGTGCAGATATAACCAGATA 0.408 NaN 0 0 0 0.09319 0 11 66 OBSCN 84033 broad.mit.edu 37 1 228444535 228444535 + Missense_Mutation SNP G G A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr1:228444535G>A uc009xez.1 + 15 4537 c.4493G>A c.(4492-4494)AGG>AAG p.R1498K OBSCN_uc001hsn.2_Missense_Mutation_p.R1498K NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 1498 Ig-like 15. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) TGCACACGGAGGCTGGTGGTG 0.672 NaN 0 0 0 0.009096 0 4 45 AKT3 10000 broad.mit.edu 37 1 243668581 243668581 + Silent SNP T T C TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr1:243668581T>C uc001iab.1 - 13 1491 c.1410A>G c.(1408-1410)CAA>CAG p.Q470Q AKT3_uc001hzz.1_Intron|AKT3_uc001iaa.2_5'Flank NM_005465 NP_005456 Q9Y243 AKT3_HUMAN AKT3 kinase isoform 1 470 AGC-kinase C-terminal. signal transduction Golgi apparatus|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity stomach(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168) all_cancers(173;0.0274) all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196) AGTAGGAAAATTGAGGGAAAT 0.398 NaN 0 0 0 0.069288 0 23 21 USP35 57558 broad.mit.edu 37 11 77924751 77924751 + Silent SNP G G T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr11:77924751G>T uc009yva.1 + 11 3195 c.2949G>T c.(2947-2949)CCG>CCT p.P983P USP35_uc001ozc.2_Silent_p.P551P|USP35_uc010rsp.1_Silent_p.P415P|USP35_uc001ozd.2_Silent_p.P594P|USP35_uc001ozf.2_Silent_p.P714P NM_020798 NP_065849 Q9P2H5 UBP35_HUMAN ubiquitin specific protease 35 983 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1) 3 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) CCACATCTCCGCACTGGGGGA 0.577 NaN 1 0 1.10923e-09 0.076483 1.2875e-09 25 126 RASSF8 11228 broad.mit.edu 37 12 26217667 26217667 + Missense_Mutation SNP C C A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr12:26217667C>A uc001rgx.2 + 3 561 c.340C>A c.(340-342)CCT>ACT p.P114T RASSF8_uc001rgy.2_Missense_Mutation_p.P114T|RASSF8_uc001rgz.2_Missense_Mutation_p.P114T|RASSF8_uc009zjd.1_Missense_Mutation_p.P114T|RASSF8_uc009zje.1_Missense_Mutation_p.P114T NM_007211 NP_009142 Q8NHQ8 RASF8_HUMAN Ras association (RalGDS/AF-6) domain family 114 signal transduction 0 Colorectal(261;0.0847) TAAACTGAGGCCTCAGATTGA 0.458 NaN 1 0 3.09479e-21 0.092188 3.65748e-21 39 109 KRT73 319101 broad.mit.edu 37 12 53012081 53012081 + Silent SNP G G A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr12:53012081G>A uc001sas.2 - 1 263 c.228C>T c.(226-228)GGC>GGT p.G76G NM_175068 NP_778238 Q86Y46 K2C73_HUMAN keratin 73 76 Head.|Gly-rich. keratin filament structural molecule activity large_intestine(2)|ovary(2)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(357;0.189) CACTGGCCCGGCCCCGGCCAA 0.637 NaN 0 0 0 0.048971 0 73 140 FRS2 10818 broad.mit.edu 37 12 69968295 69968295 + Missense_Mutation SNP A A C TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr12:69968295A>C uc001suy.2 + 10 1597 c.1087A>C c.(1087-1089)AAG>CAG p.K363Q FRS2_uc001suz.2_Missense_Mutation_p.K363Q|FRS2_uc009zrj.2_Missense_Mutation_p.K363Q|FRS2_uc009zrk.2_Missense_Mutation_p.K363Q NM_006654 NP_006645 Q8WU20 FRS2_HUMAN fibroblast growth factor receptor substrate 2 363 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 prostate(1)|kidney(1) 2 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) GGAAGCCCGCAAGCTAAGTAG 0.388 NaN 0 0 0 0.076483 0 22 901 KNTC1 9735 broad.mit.edu 37 12 123041992 123041992 + Missense_Mutation SNP C C T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr12:123041992C>T uc001ucv.2 + 17 1497 c.1334C>T c.(1333-1335)GCC>GTC p.A445V KNTC1_uc010taf.1_Missense_Mutation_p.A408V NM_014708 NP_055523 P50748 KNTC1_HUMAN Rough Deal homolog, centromere/kinetochore 445 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding ovary(5)|kidney(3)|lung(1)|central_nervous_system(1) 10 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) TCTGTGGATGCCAGTGAACAG 0.378 NaN 0 0 0 0.004672 0 3 56 AKAP6 9472 broad.mit.edu 37 14 32902841 32902841 + Missense_Mutation SNP T T A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr14:32902841T>A uc001wrq.2 + 2 312 c.142T>A c.(142-144)TCT>ACT p.S48T AKAP6_uc010aml.2_Missense_Mutation_p.S45T NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 48 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GGACATGGACTCTGACCAGCA 0.547 NaN 0 0 0 0.041601 0 32 77 BRF1 2972 broad.mit.edu 37 14 105685542 105685542 + Missense_Mutation SNP C C T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr14:105685542C>T uc001yqp.2 - 13 1768 c.1405G>A c.(1405-1407)GTG>ATG p.V469M BRF1_uc010tyo.1_Missense_Mutation_p.V354M|BRF1_uc010typ.1_Missense_Mutation_p.V376M|BRF1_uc001yqk.2_Translation_Start_Site|BRF1_uc001yql.2_Missense_Mutation_p.V265M|BRF1_uc001yqo.2_Missense_Mutation_p.V231M|BRF1_uc010axg.1_Missense_Mutation_p.V442M|BRF1_uc001yqn.2_Intron|BRF1_uc010axh.1_Intron|BRF1_uc010axi.1_Translation_Start_Site NM_001519 NP_001510 Q92994 TF3B_HUMAN transcription initiation factor IIIB isoform 1 469 positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) TCGGCCTTCACGCGGGCTTCC 0.642 NaN 0 0 0 0.048971 0 52 128 USP8 9101 broad.mit.edu 37 15 50782647 50782647 + Missense_Mutation SNP C C A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr15:50782647C>A uc001zym.3 + 15 2659 c.2159C>A c.(2158-2160)CCA>CAA p.P720Q USP8_uc001zyl.3_Missense_Mutation_p.P720Q|USP8_uc001zyn.3_Missense_Mutation_p.P720Q|USP8_uc010ufh.1_Missense_Mutation_p.P614Q|USP8_uc001zyp.3_5'Flank NM_001128611 NP_001122083 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 720 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(1)|central_nervous_system(1) 2 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) TACTCCTCCCCAGATATAACC 0.478 NaN 1 0 0.000274275 0.047766 0.000287547 8 170 THSD4 79875 broad.mit.edu 37 15 72030241 72030241 + Nonsense_Mutation SNP C C T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr15:72030241C>T uc002atb.1 + 10 1880 c.1801C>T c.(1801-1803)CGA>TGA p.R601* THSD4_uc010ukg.1_Nonsense_Mutation_p.R241*|THSD4_uc002ate.2_Nonsense_Mutation_p.R241* NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 601 proteinaceous extracellular matrix metalloendopeptidase activity ovary(2) 2 TTCTCCCCATCGACCGGACAA 0.597 NaN 0 0 0 0.048971 0 50 52 WDR90 197335 broad.mit.edu 37 16 703599 703599 + Silent SNP G G A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr16:703599G>A uc002cii.1 + 12 1362 c.1308G>A c.(1306-1308)CGG>CGA p.R436R WDR90_uc002cig.1_Silent_p.R436R|WDR90_uc002cih.1_Silent_p.R437R|WDR90_uc002cij.1_RNA|WDR90_uc002cik.1_5'Flank NM_145294 NP_660337 Q96KV7 WDR90_HUMAN WD repeat domain 90 436 WD 1. ovary(1) 1 Hepatocellular(780;0.0218) GTGTGATGCGGCTCTGGGACT 0.657 NaN 0 0 0 0.048971 0 50 59 GRIN2A 2903 broad.mit.edu 37 16 9858022 9858022 + Missense_Mutation SNP C C A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr16:9858022C>A uc002czo.3 - 13 3927 c.3379G>T c.(3379-3381)GGT>TGT p.G1127C GRIN2A_uc010uym.1_Missense_Mutation_p.G1127C|GRIN2A_uc010uyn.1_Missense_Mutation_p.G970C|GRIN2A_uc002czr.3_Missense_Mutation_p.G1127C NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 1127 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AAGTGGAAACCAGGCTCCTTC 0.512 NaN 1 0 0.00829132 0.069234 0.00842087 10 260 ABCC6 368 broad.mit.edu 37 16 16297362 16297362 + Silent SNP C C T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr16:16297362C>T uc002den.3 - 8 940 c.903G>A c.(901-903)AAG>AAA p.K301K ABCC6_uc010bvo.2_RNA|ABCC6_uc010uzz.1_Silent_p.K313K NM_001171 NP_001162 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C, member 6 301 Cytoplasmic (By similarity). response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances skin(2)|ovary(1) 3 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) GCCAGATGGCCTTCAGCAGTG 0.567 NaN 0 0 0 0.037714 0 23 53 CCDC144A 9720 broad.mit.edu 37 17 16593762 16593762 + Silent SNP G G A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr17:16593762G>A uc002gqk.1 + 1 124 c.48G>A c.(46-48)CCG>CCA p.P16P NM_014695 NP_055510 A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 16 0 AGGGGTCTCCGAAGCCGGCAG 0.672 NaN 0 0 0 0.02938 0 7 42 SDK2 54549 broad.mit.edu 37 17 71433929 71433929 + Missense_Mutation SNP G G A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr17:71433929G>A uc010dfm.2 - 8 949 c.949C>T c.(949-951)CAC>TAC p.H317Y SDK2_uc010dfn.2_5'UTR NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 317 Extracellular (Potential).|Ig-like C2-type 4. cell adhesion integral to membrane ovary(2) 2 GCAGTGATGTGTCTTTCTGGC 0.587 NaN 0 0 0 0.048971 0 53 92 MUC16 94025 broad.mit.edu 37 19 9045585 9045585 + Missense_Mutation SNP C C T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr19:9045585C>T uc002mkp.2 - 5 36250 c.36046G>A c.(36046-36048)GAG>AAG p.E12016K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12018 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTCACACTCTCAGAGGCCAAG 0.333 NaN 0 0 0 0.038395 0 18 15 C19orf44 84167 broad.mit.edu 37 19 16612266 16612266 + Missense_Mutation SNP G G T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr19:16612266G>T uc002neh.1 + 2 736 c.663G>T c.(661-663)TTG>TTT p.L221F MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.L221F|C19orf44_uc002neg.2_Missense_Mutation_p.L221F|C19orf44_uc010eai.1_RNA NM_032207 NP_115583 Q9H6X5 CS044_HUMAN hypothetical protein LOC84167 221 0 TGAAAGTATTGCTAGGAAGCT 0.433 NaN 1 0 8.10497e-08 0.055883 9.08316e-08 21 83 NLRP12 91662 broad.mit.edu 37 19 54327327 54327327 + Silent SNP G G A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr19:54327327G>A uc002qch.3 - 1 322 c.102C>T c.(100-102)ACC>ACT p.T34T NLRP12_uc002qci.3_Silent_p.T34T|NLRP12_uc002qcj.3_Silent_p.T34T|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.T34T NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 34 DAPIN. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) GCTCTGTCGCGGTCCCCAGGT 0.602 NaN 0 0 0 0.048971 0 51 98 NRXN1 9378 broad.mit.edu 37 2 50850546 50850546 + Missense_Mutation SNP C C T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr2:50850546C>T uc010fbq.2 - 6 2616 c.1139G>A c.(1138-1140)GGA>GAA p.G380E NRXN1_uc002rxb.3_Missense_Mutation_p.G27E|NRXN1_uc002rxe.3_Missense_Mutation_p.G347E|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor 159 Extracellular (Potential).|Laminin G-like. angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GGCCCCTGATCCCAAATTAAT 0.458 NaN 0 0 0 0.039052 0 43 94 MTHFD2 10797 broad.mit.edu 37 2 74432845 74432845 + Missense_Mutation SNP G G T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr2:74432845G>T uc002skk.2 + 2 194 c.115G>T c.(115-117)GTC>TTC p.V39F MTHFD2_uc002skj.2_5'UTR|MTHFD2_uc010yro.1_Intron|MTHFD2_uc010ffb.2_Missense_Mutation_p.V39F|MTHFD2_uc010yrp.1_Intron NM_006636 NP_006627 P13995 MTDC_HUMAN methylenetetrahydrofolate dehydrogenase 2 39 folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding 0 NADH(DB00157)|Tetrahydrofolic acid(DB00116) TGAAGCTGTTGTCATTTCTGG 0.398 NaN 1 0 0.00307968 0.038147 0.00317745 8 51 SCN2A 6326 broad.mit.edu 37 2 166245543 166245543 + Missense_Mutation SNP A A G TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr2:166245543A>G uc002udc.2 + 27 5517 c.5227A>G c.(5227-5229)AAA>GAA p.K1743E SCN2A_uc002udd.2_Missense_Mutation_p.K1743E|SCN2A_uc002ude.2_Missense_Mutation_p.K1743E NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 1743 IV. myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) AAGCTCAGTTAAAGGAGACTG 0.458 NaN 0 0 0 0.048971 0 70 231 TTN 7273 broad.mit.edu 37 2 179475790 179475790 + Silent SNP G G A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr2:179475790G>A uc010zfg.1 - 219 43586 c.43362C>T c.(43360-43362)GCC>GCT p.A14454A uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A8149A|TTN_uc010zfi.1_Silent_p.A8082A|TTN_uc010zfj.1_Silent_p.A7957A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 15381 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TATAAATTCCGGCATCTGCAC 0.393 NaN 0 0 0 0.021553 0 6 185 PTPRT 11122 broad.mit.edu 37 20 40735463 40735463 + Missense_Mutation SNP T T G TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr20:40735463T>G uc002xkg.2 - 24 3537 c.3353A>C c.(3352-3354)GAG>GCG p.E1118A PTPRT_uc010ggj.2_Missense_Mutation_p.E1137A|PTPRT_uc010ggi.2_Missense_Mutation_p.E321A NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1118 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GGCCCGGAGCTCACGCACGCA 0.577 NaN 0 0 0 0.048971 0 76 191 C3orf45 132228 broad.mit.edu 37 3 50324241 50324241 + Silent SNP G G A rs148270141 TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr3:50324241G>A uc003cyz.2 + 3 336 c.309G>A c.(307-309)GCG>GCA p.A103A NM_153215 NP_694947 Q8N112 CC045_HUMAN hypothetical protein LOC132228 103 Helical; (Potential). integral to membrane ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) TGCTGCTCGCGCTGCTGGTGC 0.622 NaN 0 0 0 0.080935 0 11 75 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr3:195505836G>C uc011bto.1 - 3 12691 c.12231C>G c.(12229-12231)CAC>CAG p.H4077Q MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597 NaN 0 0 0 0.009096 0 4 5 FGFR3 2261 broad.mit.edu 37 4 1803564 1803564 + Missense_Mutation SNP C C T rs121913482 TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 C T C C Valid Somatic Phase_I WXS RNASeq Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr4:1803564C>T uc003gdr.3 + 7 998 c.742C>T c.(742-744)CGC>TGC p.R248C FGFR3_uc003gdu.2_Missense_Mutation_p.R248C|FGFR3_uc003gds.3_Missense_Mutation_p.R248C|FGFR3_uc003gdq.3_Missense_Mutation_p.R248C|FGFR3_uc010icb.1_Missense_Mutation_p.R90C|FGFR3_uc003gdt.1_Missense_Mutation_p.R90C NM_000142 NP_000133 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 isoform 1 248 Extracellular (Potential). R -> C (in KERSEB, bladder cancer, keratinocytic non-epidermolytic nevus and TD1; severe and lethal; also found as somatic mutation in one patient with multiple myeloma). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.R248C(291)|p.R248_S249insC(2)|p.R248_S249del(1) urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1) 2600 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) CCCCACAGAGCGCTCCCCGCA 0.567 1 Mis|T IGH@|ETV6 bladder|MM|T-cell lymphoma Hypochondroplasia|Thanatophoric dysplasia Muenke_syndrome|Saethre-Chotzen_syndrome 0 0 0 0.080935 0 7 14 CWH43 80157 broad.mit.edu 37 4 49040081 49040081 + Missense_Mutation SNP A A T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr4:49040081A>T uc003gyv.2 + 13 1869 c.1687A>T c.(1687-1689)ATT>TTT p.I563F CWH43_uc011bzl.1_Missense_Mutation_p.I536F NM_025087 NP_079363 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog 563 GPI anchor biosynthetic process integral to membrane skin(2)|ovary(1) 3 ACTGCAGGCTATTGCTGTTTC 0.358 NaN 0 0 0 0.048971 0 58 226 MMRN1 22915 broad.mit.edu 37 4 90857417 90857417 + Silent SNP G G A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr4:90857417G>A uc003hst.2 + 6 2657 c.2586G>A c.(2584-2586)TTG>TTA p.L862L MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Silent_p.L604L NM_007351 NP_031377 Q13201 MMRN1_HUMAN multimerin 1 862 Potential. cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen ovary(4) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) AGACTCGGTTGCAAGACATTG 0.358 NaN 0 0 0 0.021553 0 6 26 INPP4B 8821 broad.mit.edu 37 4 143159109 143159110 + Missense_Mutation DNP CC CC TG TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr4:143159109_143159110CC>TG uc003iix.3 - 13 1338_1339 c.743_744GG>CA c.(742-744)TGG>TCA p.W248S INPP4B_uc003iiw.3_Missense_Mutation_p.W248S|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.W63S|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Missense_Mutation_p.W119S NM_003866 NP_003857 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 248 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity ovary(1)|lung(1) 2 all_hematologic(180;0.158) GAATTCGCATCCACTTATTGTC 0.327 NaN 0 0 0 0.004672 0 18 32 FGG 2266 broad.mit.edu 37 4 155530879 155530879 + Missense_Mutation SNP C C T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr4:155530879C>T uc003ioj.2 - 6 710 c.569G>A c.(568-570)AGC>AAC p.S190N FGG_uc003iog.2_Missense_Mutation_p.S190N|FGG_uc003ioh.2_Missense_Mutation_p.S198N|FGG_uc010ipx.2_Missense_Mutation_p.S18N|FGG_uc010ipy.2_5'UTR|FGG_uc003ioi.2_5'UTR|FGG_uc003iok.2_Missense_Mutation_p.S198N NM_021870 NP_068656 P02679 FIBG_HUMAN fibrinogen, gamma chain isoform gamma-B 190 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding 0 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) GTAAAGCCCGCTCTGTTTAGC 0.418 NaN 0 0 0 0.099896 0 26 98 PARP8 79668 broad.mit.edu 37 5 50137809 50137809 + Silent SNP C C T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr5:50137809C>T uc003jon.3 + 27 2654 c.2472C>T c.(2470-2472)GAC>GAT p.D824D PARP8_uc011cpz.1_Silent_p.D716D|PARP8_uc003joo.2_Silent_p.D824D|PARP8_uc003jop.2_Silent_p.D782D NM_024615 NP_078891 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 824 PARP catalytic. intracellular NAD+ ADP-ribosyltransferase activity lung(3)|large_intestine(1)|ovary(1) 5 Lung NSC(810;0.0305)|Breast(144;0.222) GCTATGAAGACGGCCAAGTGG 0.333 NaN 0 0 0 0.009096 0 4 28 MRPS36 92259 broad.mit.edu 37 5 68524147 68524147 + Missense_Mutation SNP T T C TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr5:68524147T>C uc003jvq.2 + 3 311 c.227T>C c.(226-228)ATA>ACA p.I76T MRPS36_uc003jvr.2_RNA NM_033281 NP_150597 P82909 RT36_HUMAN mitochondrial ribosomal protein S36 76 translation mitochondrial small ribosomal subunit structural constituent of ribosome 0 Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176) ACTGCAGAAATAATAAAAACA 0.388 NaN 0 0 0 0.048971 0 78 81 PCDHAC2 56134 broad.mit.edu 37 5 140346900 140346900 + Missense_Mutation SNP G G T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr5:140346900G>T uc003lii.2 + 1 789 c.549G>T c.(547-549)CAG>CAT p.Q183H PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.Q183H NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN protocadherin alpha subfamily C, 2 isoform 1 183 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTCAGTACAGACCTACGAGC 0.607 NaN 1 0 3.27435e-08 0.020292 3.73391e-08 15 14 GABRB2 2561 broad.mit.edu 37 5 160721255 160721255 + Nonsense_Mutation SNP G G A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr5:160721255G>A uc003lys.1 - 11 1590 c.1372C>T c.(1372-1374)CGA>TGA p.R458* GABRB2_uc011deh.1_Nonsense_Mutation_p.R259*|GABRB2_uc003lyr.1_Nonsense_Mutation_p.R420*|GABRB2_uc003lyt.1_Nonsense_Mutation_p.R420*|GABRB2_uc010jiu.1_Nonsense_Mutation_p.R357* NM_021911 NP_068711 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 458 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity 0 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GCCACATGTCGTTCCAGAGCA 0.527 NaN 0 0 0 0.104719 0 41 61 C6orf27 80737 broad.mit.edu 37 6 31734406 31734406 + Missense_Mutation SNP T T C TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr6:31734406T>C uc011dog.1 - 14 2256 c.2018A>G c.(2017-2019)GAG>GGG p.E673G C6orf27_uc003nxd.2_Missense_Mutation_p.E348G NM_025258 NP_079534 Q9Y334 G7C_HUMAN G7c protein precursor 673 extracellular region ovary(3) 3 TCCCACGGGCTCCAAGGGCAC 0.652 NaN 0 0 0 0.030593 0 29 56 CFB 629 broad.mit.edu 37 6 31901504 31901504 + Missense_Mutation SNP C C T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr6:31901504C>T uc011dor.1 + 3 638 c.374C>T c.(373-375)TCG>TTG p.S125L C2_uc003nyc.2_Missense_Mutation_p.R19W|C2_uc011doo.1_Missense_Mutation_p.R19W|C2_uc011dop.1_Missense_Mutation_p.S64L|C2_uc003nye.3_Missense_Mutation_p.S187L|C2_uc003nyf.2_Missense_Mutation_p.S187L|C2_uc010jtk.2_Missense_Mutation_p.S55L|C2_uc011doq.1_Missense_Mutation_p.S158L|C2_uc003nyg.2_Missense_Mutation_p.S55L NM_001710 NP_001701 P00751 CFAB_HUMAN complement factor B preproprotein Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity skin(1) 1 ACGGGGTCTTCGGAGCGGGAG 0.647 NaN 0 0 0 0.048971 0 63 74 DLX6 1750 broad.mit.edu 37 7 96636997 96636997 + Missense_Mutation SNP G G A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr7:96636997G>A uc003uom.2 + 3 400 c.400G>A c.(400-402)GGA>AGA p.G134R DLX6AS_uc003uol.2_Intron|DLX6AS_uc010lfo.1_Intron NM_005222 NP_005213 P56179 DLX6_HUMAN distal-less homeobox 6 44 nervous system development|skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) CAGGTTCAATGGAAAAGGGAA 0.478 NaN 0 0 0 0.02938 0 6 21 CSMD1 64478 broad.mit.edu 37 8 3076926 3076926 + Missense_Mutation SNP T T C TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr8:3076926T>C uc011kwk.1 - 29 4916 c.4526A>G c.(4525-4527)TAT>TGT p.Y1509C CSMD1_uc011kwj.1_Missense_Mutation_p.Y901C|CSMD1_uc003wqe.2_Missense_Mutation_p.Y665C NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1509 Extracellular (Potential).|CUB 9. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TTCCCCTTCATAGATGTGTAG 0.443 NaN 0 0 0 0.009096 0 4 8 CSMD3 114788 broad.mit.edu 37 8 113668395 113668395 + Missense_Mutation SNP T T A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr8:113668395T>A uc003ynu.2 - 18 3151 c.2992A>T c.(2992-2994)ATT>TTT p.I998F CSMD3_uc003yns.2_Missense_Mutation_p.I270F|CSMD3_uc003ynt.2_Missense_Mutation_p.I958F|CSMD3_uc011lhx.1_Missense_Mutation_p.I894F NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 998 Extracellular (Potential).|CUB 5. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TCATAATGAATCTTGAAACCA 0.308 NaN HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 0 0 0 0.020292 0 14 68 CSMD3 114788 broad.mit.edu 37 8 113678640 113678640 + Silent SNP T T A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr8:113678640T>A uc003ynu.2 - 17 2841 c.2682A>T c.(2680-2682)CCA>CCT p.P894P CSMD3_uc003yns.2_Silent_p.P166P|CSMD3_uc003ynt.2_Silent_p.P854P|CSMD3_uc011lhx.1_Silent_p.P790P NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 894 Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GGCCACCACATGGGGCTGAAA 0.378 NaN HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 0 0 0 0.080935 0 10 20 HSF1 3297 broad.mit.edu 37 8 145533230 145533230 + Missense_Mutation SNP C C T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr8:145533230C>T uc003zbt.3 + 3 486 c.316C>T c.(316-318)CGT>TGT p.R106C HSF1_uc003zbu.3_RNA NM_005526 NP_005517 Q00613 HSF1_HUMAN heat shock transcription factor 1 106 By similarity. cytoplasm protein binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055) ATGCTTCCTGCGTGGCCAGGA 0.612 NaN 0 0 0 0.048971 0 62 109 OR2T35 403244 broad.mit.edu 37 1 248801602 248801603 + Frame_Shift_Ins INS - - CA TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr1:248801602_248801603insCA uc001ies.1 - 1 957_958 c.957_958insTG c.(955-960)GTGATCfs p.V319fs NM_001001827 NP_001001827 Q8NGX2 O2T35_HUMAN olfactory receptor, family 2, subfamily T, 319_320 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;2.04e-05)|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;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCCTTCCTGATCACAGTCGCCA 0.545 NaN NaN NaN NaN NaN NaN 2 4 --- --- MRM1 79922 broad.mit.edu 37 17 34958251 34958281 + Frame_Shift_Del DEL CTCGACCGTCCGGGGCGCGACCTGGGGTCGC CTCGACCGTCCGGGGCGCGACCTGGGGTCGC - rs141604685 TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr17:34958251_34958281delCTCGACCGTCCGGGGCGCGACCTGGGGTCGC uc002hne.2 + 1 227_257 c.12_42delCTCGACCGTCCGGGGCGCGACCTGGGGTCGC c.(10-42)CTCTCGACCGTCCGGGGCGCGACCTGGGGTCGCfs p.L4fs MRM1_uc002hnf.2_5'Flank NM_024864 NP_079140 Q6IN84 MRM1_HUMAN mitochondrial rRNA methyltransferase 1 homolog 4_14 RNA processing mitochondrion RNA binding|RNA methyltransferase activity 0 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) TGGCATTGCTCTCGACCGTCCGGGGCGCGACCTGGGGTCGCCTCGTCACCC 0.697 NaN NaN NaN NaN NaN NaN 14 97 --- --- SCN2A 6326 broad.mit.edu 37 2 166237618 166237619 + Frame_Shift_Ins INS - - T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr2:166237618_166237619insT uc002udc.2 + 25 4752_4753 c.4462_4463insT c.(4462-4464)ATTfs p.I1488fs SCN2A_uc002udd.2_Frame_Shift_Ins_p.I1488fs|SCN2A_uc002ude.2_Frame_Shift_Ins_p.I1488fs NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 1488 III. myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) AGGTCAAGACATTTTTATGACA 0.347 NaN NaN NaN NaN NaN NaN 2 4 --- --- DOPEY1 23033 broad.mit.edu 37 6 83818634 83818650 + Frame_Shift_Del DEL GATTATTTCCTCTTCTT GATTATTTCCTCTTCTT - TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr6:83818634_83818650delGATTATTTCCTCTTCTT uc003pjs.1 + 5 586_602 c.326_342delGATTATTTCCTCTTCTT c.(325-342)GGATTATTTCCTCTTCTTfs p.G109fs DOPEY1_uc011dyy.1_Frame_Shift_Del_p.G109fs|DOPEY1_uc010kbl.1_Frame_Shift_Del_p.G109fs NM_015018 NP_055833 Q5JWR5 DOP1_HUMAN dopey family member 1 109_114 protein transport ovary(2)|breast(1)|central_nervous_system(1) 4 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) AATAGTTCTGGATTATTTCCTCTTCTTGCAAATGCTG 0.318 NaN NaN NaN NaN NaN NaN 14 110 --- --- TCP10L2 401285 broad.mit.edu 37 6 167590551 167590552 + Frame_Shift_Ins INS - - C TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr6:167590551_167590552insC uc010kkp.2 + 4 558_559 c.427_428insC c.(427-429)GCTfs p.A143fs NM_001145121 NP_001138593 B9ZVM9 B9ZVM9_HUMAN t-complex 10-like 2 143 0 GCCCAAATACGCTGGCCGCAAG 0.465 NaN NaN NaN NaN NaN NaN 21 197 --- --- TCP10 6953 broad.mit.edu 37 6 167791512 167791513 + Frame_Shift_Ins INS - - G TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr6:167791512_167791513insG uc003qvv.1 - 4 559_560 c.347_348insC c.(346-348)GCTfs p.A116fs TCP10_uc003qvu.2_Frame_Shift_Ins_p.A116fs|TCP10_uc003qvw.2_Frame_Shift_Ins_p.A92fs NM_004610 NP_004601 Q12799 TCP10_HUMAN t-complex 10 143 cytosol breast(1) 1 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386) TCTTGCGGCCAGCGTATTTGGG 0.46 NaN NaN NaN NaN NaN NaN 7 122 --- --- CCDC136 64753 broad.mit.edu 37 7 128434455 128434457 + In_Frame_Del DEL GAA GAA - TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr7:128434455_128434457delGAA uc003vnv.1 + 2 437_439 c.70_72delGAA c.(70-72)GAAdel p.E26del CCDC136_uc003vnu.1_In_Frame_Del_p.E76del|CCDC136_uc003vnw.1_In_Frame_Del_p.E26del NM_022742 NP_073579 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 26 Glu-rich. integral to membrane protein binding ovary(2) 2 ggaagaggaggaagaagaggtgg 0.394 NaN NaN NaN NaN NaN NaN 2 4 --- --- KDM6A 7403 broad.mit.edu 37 X 44896934 44896934 + Frame_Shift_Del DEL G G - TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 G - G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chrX:44896934delG uc004dge.3 + 8 1029 c.654delG c.(652-654)CAGfs p.Q218fs KDM6A_uc010nhk.2_Frame_Shift_Del_p.Q218fs|KDM6A_uc011mkz.1_Frame_Shift_Del_p.Q218fs|KDM6A_uc011mla.1_Frame_Shift_Del_p.Q218fs|KDM6A_uc011mlb.1_Frame_Shift_Del_p.Q218fs|KDM6A_uc011mlc.1_5'UTR NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 218 TPR 4. histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0(2)|p.?(1) kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 ATGAAACCCAGGTAAGTATTT 0.303 NaN D|N|F|S renal|oesophageal SCC|MM NaN NaN NaN NaN NaN 23 24 --- ---