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 pox qox pox_cutoff isArtifactMode oxoGCut CACNA1A 773 broad.mit.edu 37 19 13423556 13423556 + Missense_Mutation SNP T T C TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr19:13423556T>C ENST00000360228.5 - 12 1594 c.1595A>G c.(1594-1596)gAa>gGa p.E532G CACNA1A_ENST00000573710.2_Missense_Mutation_p.E533G NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 533 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TATAAACATTTCGGACATAAA 0.458000 3 48 0 0 0.004672 0 0 SORT1 6272 broad.mit.edu 37 1 109897024 109897024 + Missense_Mutation SNP G G C TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr1:109897024G>C ENST00000256637.6 - 5 731 c.673C>G c.(673-675)Cag>Gag p.Q225E SORT1_ENST00000538502.1_Missense_Mutation_p.Q89E NM_002959.5 NP_002950.3 Q99523 SORT_HUMAN sortilin 1 225 endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1) 26 all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184) TCAGAATTCTGAGGGCTATAC 0.383000 5 71 0 0 0.014758 0 0 ABCB1 5243 broad.mit.edu 37 7 87229508 87229508 + Splice_Site SNP T T C TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr7:87229508T>C ENST00000265724.3 - 3 412 c.e3-2 NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CATTCCGACCTGAAGAGAAAC 0.468000 3 22 0 0 0.009096 0 0 TLR3 7098 broad.mit.edu 37 4 187004157 187004157 + Silent SNP C C T TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr4:187004157C>T ENST00000296795.2 + 4 1421 c.1317C>T c.(1315-1317)ggC>ggT p.G439G TLR3_ENST00000504367.1_Silent_p.G162G NM_003265.2 NP_003256.1 O15455 TLR3_HUMAN toll-like receptor 3 439 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) TTGACCTGGGCCTTAATGAAA 0.408000 12 42 0 0 0.013537 0 0 BRD3 8019 broad.mit.edu 37 9 136917540 136917540 + Missense_Mutation SNP G G A TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr9:136917540G>A ENST00000303407.7 - 3 424 c.239C>T c.(238-240)cCa>cTa p.P80L BRD3_ENST00000357885.2_Missense_Mutation_p.P80L|BRD3_ENST00000371834.2_Missense_Mutation_p.P80L NM_007371.3 NP_031397.1 Q15059 BRD3_HUMAN bromodomain containing 3 80 Bromo 1. nucleus protein binding BRD3/C15orf55(3) kidney(1)|skin(1)|stomach(4) 6 OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07) CATATCCATTGGGTTTTTAAT 0.333000 T C15orf55 lethal midline carcinoma of young people 5 66 0 0 0.021553 0 0 OR5AC2 81050 broad.mit.edu 37 3 97806749 97806749 + Missense_Mutation SNP G G A TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr3:97806749G>A ENST00000358642.2 + 1 733 c.733G>A c.(733-735)Gcc>Acc p.A245T NM_054106.1 NP_473447.1 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, member 2 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A245T(2) endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 28 CACATGCGGCGCCCATCTGCT 0.423000 7 56 0 0 0.003080 0 0 AGAP1 116987 broad.mit.edu 37 2 236659046 236659046 + Missense_Mutation SNP G G A TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr2:236659046G>A ENST00000409538.1 + 6 1878 c.1382G>A c.(1381-1383)aGg>aAg p.R461K AGAP1_ENST00000304032.7_Missense_Mutation_p.R196K|AGAP1_ENST00000428334.2_Missense_Mutation_p.R35K|AGAP1_ENST00000409457.1_Missense_Mutation_p.R196K|AGAP1_ENST00000336665.5_Missense_Mutation_p.R196K Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 196 PH. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GCCAGGGCGAGGAAGCTCTCC 0.527000 34 136 0 0 0.017118 0 0 ZNF66 7617 broad.mit.edu 37 19 20976607 20976607 + Missense_Mutation SNP C C G TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr19:20976607C>G ENST00000344519.8 + 3 172 c.149C>G c.(148-150)cCa>cGa p.P50R ZNF66_ENST00000360204.5_Missense_Mutation_p.P28R|ZNF66_ENST00000594534.1_Missense_Mutation_p.P50R|ZNF66_ENST00000425625.1_Missense_Mutation_p.P96R GTCTCAAAGCCAGACCTCATC 0.398000 4 68 0 0 0.009096 0 0 ACO1 48 broad.mit.edu 37 9 32448924 32448924 + Missense_Mutation SNP G G C TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr9:32448924G>C ENST00000379923.1 + 21 2607 c.2401G>C c.(2401-2403)Gag>Cag p.E801Q ACO1_ENST00000309951.5_Missense_Mutation_p.E801Q|ACO1_ENST00000541043.1_Missense_Mutation_p.E702Q NM_001278352.1 NP_001265281.1 P21399 ACOC_HUMAN aconitase 1, soluble 801 citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle cytosol|endoplasmic reticulum|Golgi apparatus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 30 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;3.94e-06) CGAGAGCTACGAGCGCATTCA 0.488000 4 61 0 0 0.009096 0 0 LONP2 83752 broad.mit.edu 37 16 48303932 48303932 + Missense_Mutation SNP C C G TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr16:48303932C>G ENST00000285737.4 + 7 1081 c.988C>G c.(988-990)Ctg>Gtg p.L330V LONP2_ENST00000535754.1_Missense_Mutation_p.L286V NM_031490.2 NP_113678.2 Q86WA8 LONP2_HUMAN lon peptidase 2, peroxisomal 330 misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 GACAGACCGCCTGGACATTAG 0.378000 8 42 0 0 0.006214 0 0 OR8I2 120586 broad.mit.edu 37 11 55861330 55861330 + Missense_Mutation SNP C C A TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr11:55861330C>A ENST00000302124.2 + 1 578 c.547C>A c.(547-549)Ctt>Att p.L183I OR8I2_ENST00000560768.1_Missense_Mutation_p.L183I Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L183F(1) NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) CACCACAGCTCTTTTAGCACT 0.438000 15 118 2.31682e-05 2.5485e-05 0.024245 1 0 PRCC 5546 broad.mit.edu 37 1 156770249 156770249 + Silent SNP C C T TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr1:156770249C>T ENST00000271526.4 + 7 1745 c.1473C>T c.(1471-1473)ttC>ttT p.F491F PRCC_ENST00000353233.3_Silent_p.F459F NM_005973.4 NP_005964.3 Q92733 PRCC_HUMAN papillary renal cell carcinoma (translocation-associated) 491 cell cycle|mitotic cell cycle checkpoint nucleus protein binding PRCC/TFE3(25) breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1) 15 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) AATATGGATTCTAGGGCTCTG 0.597000 T TFE3 papillary renal 11 83 0 0 0.013537 0 0 TSSK2 23617 broad.mit.edu 37 22 19119322 19119322 + Missense_Mutation SNP T T C TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr22:19119322T>C ENST00000399635.2 + 1 1002 c.410T>C c.(409-411)cTc>cCc p.L137P DGCR14_ENST00000252137.6_3'UTR NM_053006.4 NP_443732.3 Q96PF2 TSSK2_HUMAN testis-specific serine kinase 2 137 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1) 11 Colorectal(54;0.0993) CACCGGGACCTCAAGTGCGAG 0.592000 3 85 0 0 0.009096 0 0 DST 667 broad.mit.edu 37 6 56474052 56474052 + Missense_Mutation SNP C C G TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr6:56474052C>G ENST00000370754.5 - 39 5274 c.5275G>C c.(5275-5277)Gac>Cac p.D1759H DST_ENST00000370769.4_Missense_Mutation_p.D1581H|DST_ENST00000361203.3_Missense_Mutation_p.D1581H|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.D1255H|DST_ENST00000312431.6_Missense_Mutation_p.D1581H|DST_ENST00000421834.2_Intron Q03001 DYST_HUMAN dystonin 1581 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ATTCCTGTGTCATAGTCAATG 0.403000 14 300 0 0 0.020292 0 0 LAIR1 3903 broad.mit.edu 37 19 54867583 54867583 + Missense_Mutation SNP C C T TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr19:54867583C>T ENST00000391743.3 - 8 923 c.643G>A c.(643-645)Gac>Aac p.D215N LAIR1_ENST00000474878.1_Missense_Mutation_p.D215N|LAIR1_ENST00000313038.6_Missense_Mutation_p.D226N|LAIR1_ENST00000391742.2_Missense_Mutation_p.D233N|LAIR1_ENST00000348231.4_Missense_Mutation_p.D216N|LAIR1_ENST00000434277.2_Missense_Mutation_p.D232N Q6GTX8 LAIR1_HUMAN leukocyte-associated immunoglobulin-like receptor 1 233 integral to membrane|plasma membrane protein binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3) 26 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0573) GTCTCTCTGTCCTTCTCAGGA 0.473000 20 100 0 0 0.024334 0 0 KCNK15 60598 broad.mit.edu 37 20 43378790 43378790 + Missense_Mutation SNP G G C TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr20:43378790G>C ENST00000372861.3 + 2 435 c.304G>C c.(304-306)Ggt>Cgt p.G102R NM_022358.3 NP_071753.2 Q9H427 KCNKF_HUMAN potassium channel, subfamily K, member 15 102 integral to membrane potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(115;0.0122) CGCCGCGCCGGGTACGGACTC 0.682000 3 18 0 0 0.009096 0 0 FGF2 2247 broad.mit.edu 37 4 123797546 123797546 + Silent SNP G G A TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr4:123797546G>A ENST00000264498.3 + 2 716 c.648G>A c.(646-648)ctG>ctA p.L216L NM_002006.4 NP_001997.5 P09038 FGF2_HUMAN fibroblast growth factor 2 (basic) 216 activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of ERK1 and ERK2 cascade|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|Ras protein signal transduction|release of sequestered calcium ion into cytosol|wound healing extracellular space fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity central_nervous_system(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|skin(1) 8 Pentosan Polysulfate(DB00686) ACCGTTACCTGGCTATGAAGG 0.378000 5 53 0 0 0.003080 0 0 ASTN1 460 broad.mit.edu 37 1 176993768 176993768 + Silent SNP A A T TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr1:176993768A>T ENST00000367654.2 - 6 1234 c.1221T>A c.(1219-1221)ccT>ccA p.P407P ASTN1_ENST00000367657.3_Silent_p.P407P|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.P407P|ASTN1_ENST00000361833.2_Silent_p.P407P O14525 ASTN1_HUMAN astrotactin 1 407 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TGACAACGAGAGGGCAGTTGA 0.537000 5 36 0 0 0.014758 0 0 CELSR2 1952 broad.mit.edu 37 1 109793507 109793507 + Missense_Mutation SNP G G T TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr1:109793507G>T ENST00000271332.3 + 1 867 c.806G>T c.(805-807)cGa>cTa p.R269L NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 269 Cadherin 1. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) ATGCCCCGACGAAGTGCCCTG 0.592000 8 59 1.06961e-07 1.20059e-07 0.003080 1 0 FRG1BP 284802 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 4 83 0 0 0.009096 0 0 TOPBP1 11073 broad.mit.edu 37 3 133327412 133327412 + Missense_Mutation SNP C C G TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr3:133327412C>G ENST00000260810.5 - 27 4523 c.4392G>C c.(4390-4392)ttG>ttC p.L1464F NM_007027.3 NP_008958.2 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 1464 BRCT 8. DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 40 ATTCTGTTCTCAAGCAGTACA 0.393000 Other conserved DNA damage response genes 11 129 0 0 0.010729 0 0 TRABD2A 129293 broad.mit.edu 37 2 85051178 85051178 + Silent SNP C C T TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr2:85051178C>T ENST00000335459.5 - 5 1291 c.1086G>A c.(1084-1086)acG>acA p.T362T TRABD2A_ENST00000479944.1_5'UTR|TRABD2A_ENST00000409520.2_Silent_p.T411T NM_001080824.1 NP_001074293.1 TraB domain containing 2A CCTCACTGGGCGTGTCGGCAC 0.642000 6 25 0 0 0.003080 0 0 PXDNL 137902 broad.mit.edu 37 8 52322037 52322037 + Missense_Mutation SNP G G T TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr8:52322037G>T ENST00000356297.4 - 17 2247 c.2147C>A c.(2146-2148)cCa>cAa p.P716Q PXDNL_ENST00000543296.1_Missense_Mutation_p.P716Q NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 716 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GGAGCAGTTTGGCAGAGGCCT 0.622000 12 27 7.03913e-09 7.98251e-09 0.013537 1 0 UBBP4 23666 broad.mit.edu 37 17 21730948 21730948 + Silent SNP C C T TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr17:21730948C>T ENST00000584755.1 + 2 647 c.250C>T c.(250-252)Ctg>Ttg p.L84L UBBP4_ENST00000578713.1_Silent_p.L84L|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 CGTGAAGACCCTGACCGGCAA 0.547000 6 59 0 0 0.003080 0 0 TBC1D2B 23102 broad.mit.edu 37 15 78322394 78322394 + Missense_Mutation SNP T T C TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr15:78322394T>C ENST00000409931.3 - 4 873 c.802A>G c.(802-804)Ata>Gta p.I268V TBC1D2B_ENST00000300584.3_Missense_Mutation_p.I268V Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 268 intracellular protein binding|Rab GTPase activator activity breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 TCCTGTACTATGGACTCCTCT 0.453000 9 71 0 0 0.008291 0 0 HFM1 164045 broad.mit.edu 37 1 91851392 91851392 + Splice_Site SNP C C G TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr1:91851392C>G ENST00000370425.3 - 5 593 c.e5-1 HFM1_ENST00000294696.5_Splice_Site|HFM1_ENST00000370424.3_Intron NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TTTAAATAATCTGCAAACAAA 0.328000 5 59 0 0 0.014758 0 0 TRIM22 10346 broad.mit.edu 37 11 5730360 5730360 + Missense_Mutation SNP C C T TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr11:5730360C>T ENST00000379965.3 + 8 1256 c.979C>T c.(979-981)Cgc>Tgc p.R327C TRIM5_ENST00000380027.1_Intron NM_001199573.1|NM_006074.4 NP_001186502.1|NP_006065.2 Q8IYM9 TRI22_HUMAN tripartite motif containing 22 327 B30.2/SPRY. immune response|interspecies interaction between organisms|protein trimerization|response to virus Cajal body|Golgi apparatus|nuclear speck ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2) 23 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14) GAAAACTGTACGCACCTGCAC 0.413000 8 79 0 0 0.004482 0 0 ZNF833P 401898 broad.mit.edu 37 19 11759238 11759238 + RNA SNP G G A TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr19:11759238G>A ENST00000344893.3 + 0 357 NR_028594.1 endometrium(1)|large_intestine(2)|lung(1)|ovary(1) 5 TGCTGGATCCGTCCCAGAAGA 0.458000 14 76 0 0 0.028581 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27539214 27539214 + RNA SNP G G C TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr10:27539214G>C ENST00000574842.1 + 0 483 LRRC37A6P_ENST00000284414.4_RNA ACCTGGAGGTGAAACGGTGAC 0.542000 7 184 0 0 0.003080 0 0 DBNL 28988 broad.mit.edu 37 7 44100510 44100510 + Missense_Mutation SNP G G C TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr7:44100510G>C ENST00000494774.1 + 13 1312 c.1291G>C c.(1291-1293)Gag>Cag p.E431Q DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000468694.1_Missense_Mutation_p.E439Q|DBNL_ENST00000452943.1_Missense_Mutation_p.E406Q|DBNL_ENST00000490734.2_Missense_Mutation_p.E336Q|DBNL_ENST00000456905.1_Missense_Mutation_p.E382Q|DBNL_ENST00000448521.1_Missense_Mutation_p.E430Q|DBNL_ENST00000440166.1_Missense_Mutation_p.E327Q NM_014063.6 NP_054782.2 Q9UJU6 DBNL_HUMAN drebrin-like 430 activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction cell cortex|cytoskeleton|cytosol|lamellipodium actin binding|enzyme activator activity|identical protein binding breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1) 12 GGAGCTCATTGAGTGAGGCTG 0.572000 3 21 0 0 0.014758 0 0 LCP1 3936 broad.mit.edu 37 13 46732708 46732708 + Missense_Mutation SNP T T A TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr13:46732708T>A ENST00000398576.2 - 7 695 c.307A>T c.(307-309)Atc>Ttc p.I103F LCP1_ENST00000323076.2_Missense_Mutation_p.I103F P13796 PLSL_HUMAN lymphocyte cytosolic protein 1 (L-plastin) 103 regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1) 34 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) GTACCACCGATTGCACAAATC 0.423000 T BCL6 NHL 20 65 0 0 0.010504 0 0 MED23 9439 broad.mit.edu 37 6 131915244 131915244 + Missense_Mutation SNP A A G TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr6:131915244A>G ENST00000403834.3 - 23 3418 c.3245T>C c.(3244-3246)gTc>gCc p.V1082A MED23_ENST00000479213.1_5'UTR|MED23_ENST00000545957.1_Missense_Mutation_p.V717A|MED23_ENST00000368058.1_Missense_Mutation_p.V1082A|MED23_ENST00000368060.3_Missense_Mutation_p.V1076A|MED23_ENST00000368068.3_Missense_Mutation_p.V1076A|MED23_ENST00000354577.4_Missense_Mutation_p.V1082A Q9ULK4 MED23_HUMAN mediator complex subunit 23 1076 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) GATATTATCGACTAGTCTGCC 0.318000 4 47 0 0 0.021553 0 0 EVI5L 115704 broad.mit.edu 37 19 7914195 7914195 + Silent SNP C C T TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr19:7914195C>T ENST00000270530.4 + 5 802 c.606C>T c.(604-606)atC>atT p.I202I EVI5L_ENST00000538904.2_Silent_p.I202I NM_145245.3 NP_660288.1 Q96CN4 EVI5L_HUMAN ecotropic viral integration site 5-like 202 Rab-GAP TBC. intracellular protein binding|Rab GTPase activator activity breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 12 GCGCCTTCATCGTGGGCCTGC 0.647000 4 46 0 0 0.014758 0 0 DNAH1 25981 broad.mit.edu 37 3 52380551 52380551 + Missense_Mutation SNP C C T TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr3:52380551C>T ENST00000420323.2 + 11 1981 c.1720C>T c.(1720-1722)Cgc>Tgc p.R574C NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 574 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CAGCAGCCTGCGCGACATGAG 0.567000 4 17 0 0 0.014758 0 0 TNFAIP8L3 388121 broad.mit.edu 37 15 51397319 51397319 + Missense_Mutation SNP C C G TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr15:51397319C>G ENST00000327536.5 - 1 154 c.55G>C c.(55-57)Gag>Cag p.E19Q RP11-108K3.1_ENST00000559909.1_lincRNA NM_207381.2 NP_997264.2 Q5GJ75 TP8L3_HUMAN tumor necrosis factor, alpha-induced protein 8-like 3 19 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 11 all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338) CCCTTTGGCTCTGCCTCACAG 0.512000 5 119 0 0 0.029380 0 0 POLR1A 25885 broad.mit.edu 37 2 86258685 86258685 + Missense_Mutation SNP C C T TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr2:86258685C>T ENST00000263857.6 - 30 4724 c.4346G>A c.(4345-4347)cGa>cAa p.R1449Q POLR1A_ENST00000409681.1_Missense_Mutation_p.R1449Q O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 1449 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 GTGGGGATTTCGTtcctcctg 0.577000 12 78 0 0 0.010729 0 0 NEUROD6 63974 broad.mit.edu 37 7 31378675 31378675 + Nonsense_Mutation SNP C C A TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr7:31378675C>A ENST00000297142.3 - 2 530 c.208G>T c.(208-210)Gaa>Taa p.E70* NM_022728.2 NP_073565.2 Q96NK8 NDF6_HUMAN neuronal differentiation 6 70 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.E70*(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 AACCCAttttcatcttcctct 0.483000 24 169 5.35356e-11 6.19886e-11 0.016522 1 0 SLC2A10 81031 broad.mit.edu 37 20 45353758 45353758 + Missense_Mutation SNP T T C TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr20:45353758T>C ENST00000359271.2 + 2 333 c.83T>C c.(82-84)gTc>gCc p.V28A NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 28 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) GAACTGGCAGTCATATCAGGT 0.577000 9 96 0 0 0.010729 0 0 NOP58 51602 broad.mit.edu 37 2 203168128 203168128 + Missense_Mutation SNP A A G TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr2:203168128A>G ENST00000264279.5 + 15 1785 c.1559A>G c.(1558-1560)aAa>aGa p.K520R NM_015934.3 NP_057018.1 Q9Y2X3 NOP58_HUMAN NOP58 ribonucleoprotein 520 Lys-rich. cell growth|rRNA processing|snRNP protein import into nucleus box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex protein binding|snoRNA binding breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2) 16 aaaaagaagaaaaagaaaaaa 0.368000 10 57 0 0 0.008291 0 0 HIST1H2AA 221613 broad.mit.edu 37 6 25726721 25726721 + Missense_Mutation SNP C C T TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr6:25726721C>T ENST00000297012.3 - 1 69 c.35G>A c.(34-36)cGc>cAc p.R12H NM_170745.3 NP_734466.1 Q96QV6 H2A1A_HUMAN histone cluster 1, H2aa 12 nucleosome assembly nucleosome|nucleus DNA binding p.R12P(1) breast(1)|endometrium(2)|large_intestine(2)|lung(8) 13 AGACTTGGCGCGTGCTTTTCC 0.527000 11 62 0 0 0.016723 0 0 HIATL1 84641 broad.mit.edu 37 9 97218593 97218593 + Missense_Mutation SNP C C G TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr9:97218593C>G ENST00000375344.3 + 10 1369 c.1100C>G c.(1099-1101)tCt>tGt p.S367C HIATL1_ENST00000428393.2_Intron NM_032558.2 NP_115947.2 Q5SR56 HIAL1_HUMAN hippocampus abundant transcript-like 1 367 S -> T (in Ref. 3; BAB55274). transmembrane transport integral to membrane|plasma membrane protein binding|transporter activity endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1) 11 Acute lymphoblastic leukemia(62;0.136) GCCCTCGTCTCTCGGAATGCA 0.577000 4 80 0 0 0.014758 0 0 DOCK4 9732 broad.mit.edu 37 7 111368416 111368416 + Nonsense_Mutation SNP G G A TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr7:111368416G>A ENST00000428084.1 - 53 6114 c.5842C>T c.(5842-5844)Cga>Tga p.R1948* DOCK4_ENST00000437633.1_Nonsense_Mutation_p.R1939*|DOCK4_ENST00000494651.2_Nonsense_Mutation_p.R822* Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1939 Pro-rich. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) TGGCTGGATCGCGCTGCCAGA 0.692000 6 38 0 0 0.021553 0 0 PARP14 54625 broad.mit.edu 37 3 122411306 122411306 + Missense_Mutation SNP A A G TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr3:122411306A>G ENST00000474629.2 + 4 780 c.514A>G c.(514-516)Ata>Gta p.I172V NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 172 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) AGTGGAGAACATAAGTGGCCT 0.363000 14 65 0 0 0.016723 0 0 ACAP2 23527 broad.mit.edu 37 3 195041540 195041540 + Missense_Mutation SNP A A C TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr3:195041540A>C ENST00000326793.6 - 10 977 c.747T>G c.(745-747)gaT>gaG p.D249E NM_012287.5 NP_036419.3 Q15057 ACAP2_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 249 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 27 CACTGGAGAAATCCTACACAA 0.348000 3 54 0 0 0.004672 0 0 ZFP37 7539 broad.mit.edu 37 9 115818942 115818942 + Missense_Mutation SNP A A C TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr9:115818942A>C ENST00000374227.3 - 1 54 c.27T>G c.(25-27)atT>atG p.I9M ZFP37_ENST00000553380.1_Missense_Mutation_p.I9M|ZFP37_ENST00000555206.1_Missense_Mutation_p.I9M Q9Y6Q3 ZFP37_HUMAN ZFP37 zinc finger protein 9 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 GCTTTGTCAGAATCTGGACGC 0.682000 9 63 0 0 0.008291 0 0 XPNPEP3 63929 broad.mit.edu 37 22 41265050 41265050 + Missense_Mutation SNP G G C TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr22:41265050G>C ENST00000357137.4 + 2 196 c.112G>C c.(112-114)Gaa>Caa p.E38Q XPNPEP3_ENST00000414396.1_Missense_Mutation_p.E38Q|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.E15Q|XPNPEP3_ENST00000541156.1_Missense_Mutation_p.E38Q NM_022098.3 NP_071381.1 Q9NQH7 XPP3_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 3, putative 38 cellular process mitochondrion aminopeptidase activity|manganese ion binding|metallopeptidase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 17 GCCTGTCCCAGAAAGGAGGAT 0.458000 7 134 0 0 0.004482 0 0 GGTLC1 92086 broad.mit.edu 37 20 23967157 23967157 + Missense_Mutation SNP A A G TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr20:23967157A>G ENST00000335694.4 - 2 296 c.92T>C c.(91-93)aTg>aCg p.M31T GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T NM_178311.2 NP_842563.1 Q9BX51 GGTL1_HUMAN gamma-glutamyltransferase light chain 1 31 gamma-glutamyltransferase activity p.M31T(6) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 15 GTCATCCGGCATGTAGAACTC 0.622000 4 68 0 0 0.009096 0 0 ACAT2 39 broad.mit.edu 37 6 160199708 160199708 + Silent SNP G G A TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr6:160199708G>A ENST00000367048.4 + 9 2801 c.1041G>A c.(1039-1041)ggG>ggA p.G347G ACAT2_ENST00000472052.1_3'UTR|TCP1_ENST00000321394.7_3'UTR|ACAT2_ENST00000541436.1_Silent_p.G376G NM_005891.2 NP_005882.2 Q9BWD1 THIC_HUMAN acetyl-CoA acetyltransferase 2 347 mitochondrion|nucleolus acetyl-CoA C-acetyltransferase activity|protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1) 9 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) TTGAAGGAGGGGCTATAGCCT 0.443000 16 109 0 0 0.006122 0 0 CHD3 1107 broad.mit.edu 37 17 7806800 7806800 + Missense_Mutation SNP C C G TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr17:7806800C>G ENST00000380358.4 + 23 3884 c.3883C>G c.(3883-3885)Cta>Gta p.L1295V CHD3_ENST00000358181.4_Missense_Mutation_p.L1236V|CHD3_ENST00000330494.7_Missense_Mutation_p.L1236V NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 1236 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) CACTGAAGAGCTATTCAAGGA 0.542000 7 16 0 0 0.029380 0 0 KIAA0391 9692 broad.mit.edu 37 14 35735973 35735973 + Missense_Mutation SNP G G C TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr14:35735973G>C ENST00000557565.1 + 6 1697 c.1316G>C c.(1315-1317)cGa>cCa p.R439P KIAA0391_ENST00000604948.1_Missense_Mutation_p.R344P|KIAA0391_ENST00000603544.1_Missense_Mutation_p.R423P|KIAA0391_ENST00000605870.1_Missense_Mutation_p.R67P|KIAA0391_ENST00000250377.7_Missense_Mutation_p.R344P|KIAA0391_ENST00000534898.4_Missense_Mutation_p.R439P|KIAA0391_ENST00000321130.10_Missense_Mutation_p.R423P O15091 MRRP3_HUMAN KIAA0391 439 tRNA processing mitochondrion central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277) GBM - Glioblastoma multiforme(112;0.0593) CGGAATCTGCGACTGCTGGTC 0.478000 3 177 0 0 0.009096 0 0 IL1R2 7850 broad.mit.edu 37 2 102642600 102642600 + Silent SNP C C T TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr2:102642600C>T ENST00000332549.3 + 8 1144 c.915C>T c.(913-915)taC>taT p.Y305Y IL1R2_ENST00000485335.1_3'UTR|IL1R2_ENST00000393414.2_Silent_p.Y305Y NM_004633.3 NP_004624.1 P27930 IL1R2_HUMAN interleukin 1 receptor, type II 305 Ig-like C2-type 3. immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1) 28 Anakinra(DB00026) ATGAGAACTACATTGAAGTGC 0.338000 7 64 0 0 0.003080 0 0 LILRB1 10859 broad.mit.edu 37 19 55143590 55143590 + Missense_Mutation SNP G G T TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr19:55143590G>T ENST00000396331.1 + 6 920 c.563G>T c.(562-564)aGc>aTc p.S188I LILRB1_ENST00000448689.1_Missense_Mutation_p.S188I|LILRB1_ENST00000434867.2_Missense_Mutation_p.S188I|LILRB1_ENST00000427581.2_Missense_Mutation_p.S224I|LILRB1_ENST00000396321.2_Missense_Mutation_p.S188I|LILRB1_ENST00000324602.7_Missense_Mutation_p.S188I|LILRB1_ENST00000418536.2_Missense_Mutation_p.S188I|LILRB1_ENST00000396315.1_Missense_Mutation_p.S188I|LILRB1_ENST00000396332.4_Missense_Mutation_p.S188I|LILRB1_ENST00000396317.1_Missense_Mutation_p.S188I|LILRB1_ENST00000396327.3_Missense_Mutation_p.S188I NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 188 Ig-like C2-type 2. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) GGCCCCGTGAGCCCGAGTCGC 0.587000 HNSCC(37;0.09) 22 159 3.5997e-14 4.21241e-14 0.014323 1 0 CASP8AP2 9994 broad.mit.edu 37 6 90578310 90578310 + RNA SNP A A T TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr6:90578310A>T ENST00000551025.1 + 0 6738 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) GTGGGGTGATACAGGTAGATG 0.403000 6 34 0 0 0.003080 0 0 MUC16 94025 broad.mit.edu 37 19 9008207 9008207 + Silent SNP G G T TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr19:9008207G>T ENST00000397910.4 - 41 39548 c.39345C>A c.(39343-39345)ccC>ccA p.P13115P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13117 SEA 7. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCAGGGTGTAGGGGCCCAGCT 0.547000 5 255 0.014758 0.0154608 0.014758 1 0 SLTM 79811 broad.mit.edu 37 15 59186670 59186670 + Missense_Mutation SNP G G A TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr15:59186670G>A ENST00000380516.2 - 10 1426 c.1339C>T c.(1339-1341)Cgc>Tgc p.R447C SLTM_ENST00000536328.1_Missense_Mutation_p.R16C NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 447 RRM. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 AGCTCAGTGCGATGAAGATGT 0.413000 7 105 0 0 0.029380 0 0 SH3BP4 23677 broad.mit.edu 37 2 235949576 235949576 + Missense_Mutation SNP G G A TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr2:235949576G>A ENST00000409212.1 + 4 670 c.163G>A c.(163-165)Gga>Aga p.G55R SH3BP4_ENST00000392011.2_Missense_Mutation_p.G55R|SH3BP4_ENST00000344528.4_Missense_Mutation_p.G55R Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 55 SH3. endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2) 44 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) CACACCTTTCGGAAATGCAAA 0.532000 31 157 0 0 0.019004 0 0 SHOX2 6474 broad.mit.edu 37 3 157820662 157820662 + Silent SNP C C G TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr3:157820662C>G ENST00000389589.4 - 3 567 c.432G>C c.(430-432)ctG>ctC p.L144L SHOX2_ENST00000483851.2_Silent_p.L120L|SHOX2_ENST00000425436.3_Silent_p.L120L|SHOX2_ENST00000490689.2_5'UTR|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000441443.2_5'UTR NM_003030.4 NP_003021.3 O60902 SHOX2_HUMAN short stature homeobox 2 120 nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1) 20 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) TGCGATCTTTCAGCTCCGGGG 0.572000 6 73 0 0 0.021553 0 0 KIAA1244 57221 broad.mit.edu 37 6 138576730 138576730 + Missense_Mutation SNP A A G TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr6:138576730A>G ENST00000251691.4 + 10 1094 c.928A>G c.(928-930)Act>Gct p.T310A NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 310 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) CTGCTCCTGCACTGCGCCGGC 0.642000 9 77 0 0 0.004482 0 0 MUC4 4585 broad.mit.edu 37 3 195517410 195517410 + Silent SNP A A G TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr3:195517410A>G ENST00000463781.3 - 2 1500 c.1041T>C c.(1039-1041)gtT>gtC p.V347V MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.V347V NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 352 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 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) TTGATGTTGTAACCGGTGTGA 0.473000 10 304 0 0 0.008291 0 0 ARID1A 8289 broad.mit.edu 37 1 27088796 27088796 + Missense_Mutation SNP A A C TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr1:27088796A>C ENST00000324856.7 + 7 2776 c.2405A>C c.(2404-2406)cAg>cCg p.Q802P ARID1A_ENST00000374152.2_Missense_Mutation_p.Q419P|ARID1A_ENST00000457599.2_Missense_Mutation_p.Q802P NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 802 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CAGGGGGGTCAGTATGGCCCA 0.532000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 14 80 0 0 0.020292 0 0 TAF1L 138474 broad.mit.edu 37 9 32634244 32634244 + Missense_Mutation SNP G G C TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr9:32634244G>C ENST00000242310.4 - 1 1423 c.1334C>G c.(1333-1335)aCa>aGa p.T445R RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 445 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CTGAGGTTTTGTCCCTTTGTG 0.483000 11 180 0 0 0.013537 0 0 B4GALNT4 338707 broad.mit.edu 37 11 379925 379925 + Missense_Mutation SNP C C T TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr11:379925C>T ENST00000329962.6 + 16 2548 c.2548C>T c.(2548-2550)Cgc>Tgc p.R850C NM_178537.4 NP_848632.2 Q76KP1 B4GN4_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 4 850 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity p.R850C(1) endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCTGCACGCGCGCACCGGGGA 0.687000 6 51 0 0 0.021553 0 0 OSBPL8 114882 broad.mit.edu 37 12 76750470 76750470 + Missense_Mutation SNP T T C TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr12:76750470T>C ENST00000261183.3 - 23 2952 c.2473A>G c.(2473-2475)Ata>Gta p.I825V OSBPL8_ENST00000393250.4_Missense_Mutation_p.I783V|OSBPL8_ENST00000393249.2_Missense_Mutation_p.I783V NM_020841.4 NP_065892.1 Q9BZF1 OSBL8_HUMAN oxysterol binding protein-like 8 825 lipid transport lipid binding breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2) 28 CCCAGTTCTATTCCTTTCTTT 0.294000 12 70 0 0 0.016723 0 0 WDR12 55759 broad.mit.edu 37 2 203764342 203764342 + Missense_Mutation SNP C C G TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr2:203764342C>G ENST00000261015.3 - 4 999 c.250G>C c.(250-252)Gaa>Caa p.E84Q WDR12_ENST00000477723.1_5'UTR NM_018256.3 NP_060726.3 Q9GZL7 WDR12_HUMAN WD repeat domain 12 84 cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1) 13 TCCACGTATTCTATTTCCACA 0.393000 4 72 0 0 0.014758 0 0 ETNK2 55224 broad.mit.edu 37 1 204115797 204115797 + Missense_Mutation SNP G G A TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr1:204115797G>A ENST00000367202.4 - 3 764 c.614C>T c.(613-615)aCg>aTg p.T205M ETNK2_ENST00000367201.3_Missense_Mutation_p.T205M|ETNK2_ENST00000367198.2_Missense_Mutation_p.T27M|ETNK2_ENST00000367199.2_Intron NM_018208.2 NP_060678.2 Q9NVF9 EKI2_HUMAN ethanolamine kinase 2 205 ATP binding|choline kinase activity|ethanolamine kinase activity p.T205M(1) breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1) 7 all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) CTTCACAAGCGTGAAATAATT 0.502000 11 94 0 0 0.020292 0 0 HEPHL1 341208 broad.mit.edu 37 11 93778850 93778850 + Nonsense_Mutation SNP T T G TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr11:93778850T>G ENST00000315765.9 + 2 190 c.182T>G c.(181-183)tTa>tGa p.L61* NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 61 Plastocyanin-like 1. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) CTTGCAACCTTATTTCTCGAA 0.373000 3 16 0 0 0.004672 0 0 HTR1B 3351 broad.mit.edu 37 6 78172633 78172633 + Missense_Mutation SNP G G A TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr6:78172633G>A ENST00000369947.2 - 1 857 c.488C>T c.(487-489)cCc>cTc p.P163L NM_000863.1 NP_000854.1 P28222 5HT1B_HUMAN 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled 163 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission integral to plasma membrane protein binding|serotonin receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2) 25 all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332) BRCA - Breast invasive adenocarcinoma(397;0.205) Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315) CGCCCTCTTGGGAGTCCTTTT 0.602000 4 47 0 0 0.009096 0 0 MSX1 4487 broad.mit.edu 37 4 4864702 4864702 + Silent SNP G G A TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr4:4864702G>A ENST00000382723.4 + 2 978 c.744G>A c.(742-744)ccG>ccA p.P248P MSX1_ENST00000468421.1_3'UTR NM_002448.3 NP_002439.2 P28360 MSX1_HUMAN msh homeobox 1 242 apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization nucleus p53 binding|sequence-specific DNA binding transcription factor activity endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 11 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) TGCTGCCACCGGCTGCCTTCG 0.672000 4 25 0 0 0.021553 0 0 NR1I2 8856 broad.mit.edu 37 3 119534276 119534276 + Silent SNP C C G TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr3:119534276C>G ENST00000393716.2 + 7 2883 c.1044C>G c.(1042-1044)ctC>ctG p.L348L NR1I2_ENST00000337940.4_Silent_p.L387L|NR1I2_ENST00000466380.1_Silent_p.L311L NM_003889.3 NP_003880.3 O75469 NR1I2_HUMAN nuclear receptor subfamily 1, group I, member 2 348 Ligand-binding. drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport nucleoplasm drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3) 23 GBM - Glioblastoma multiforme(114;0.175) Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163) CCATCTCCCTCTTCTCCCCAG 0.567000 8 76 0 0 0.004482 0 0 LARP4 113251 broad.mit.edu 37 12 50822793 50822793 + Missense_Mutation SNP A A G TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr12:50822793A>G ENST00000398473.2 + 3 354 c.242A>G c.(241-243)aAt>aGt p.N81S LARP4_ENST00000522085.1_Missense_Mutation_p.N81S|LARP4_ENST00000518561.1_Missense_Mutation_p.N11S|LARP4_ENST00000293618.8_Missense_Mutation_p.N81S|LARP4_ENST00000518444.1_Missense_Mutation_p.N80S|LARP4_ENST00000347328.5_Missense_Mutation_p.N81S|LARP4_ENST00000429001.3_Missense_Mutation_p.N87S NM_052879.4|NM_199188.2 NP_443111.4|NP_954658.2 Q71RC2 LARP4_HUMAN La ribonucleoprotein domain family, member 4 81 nucleotide binding|RNA binding breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 23 ACCACAAGAAATACTACAGGC 0.333000 10 78 0 0 0.006214 0 0 ANK3 288 broad.mit.edu 37 10 61836161 61836161 + Missense_Mutation SNP G G A TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr10:61836161G>A ENST00000280772.1 - 37 4669 c.4478C>T c.(4477-4479)tCa>tTa p.S1493L ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1493 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TGGCTTGTATGAGTAAGTGGT 0.418000 8 36 0 0 0.003080 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 4 83 0 0 0.009096 0 0 PIK3CA 5290 broad.mit.edu 37 3 178928073 178928073 + Missense_Mutation SNP G G A TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr3:178928073G>A ENST00000263967.3 + 8 1508 c.1351G>A c.(1351-1353)Gga>Aga p.G451R NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 451 C2 PI3K-type. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.H450fs*9(1)|p.P449_L455del(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AGTACCTCATGGATTAGAAGA 0.348000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 12 89 0 0 0.013537 0 0 ELF5 2001 broad.mit.edu 37 11 34515223 34515223 + Missense_Mutation SNP T T C TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr11:34515223T>C ENST00000312319.2 - 3 417 c.188A>G c.(187-189)tAc>tGc p.Y63C ELF5_ENST00000528709.1_Intron|ELF5_ENST00000429939.2_Intron|ELF5_ENST00000532417.1_Missense_Mutation_p.Y53C|ELF5_ENST00000257832.2_Missense_Mutation_p.Y53C NM_001243081.1|NM_198381.1 NP_001230010.1|NP_938195.1 Q9UKW6 ELF5_HUMAN E74-like factor 5 (ets domain transcription factor) 63 PNT. cell proliferation|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(4)|skin(1) 5 Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384) CTTAGTCCAGTATTCAGGGTG 0.532000 OREG0020879 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 29 0 0 0.021553 0 0 TDRD1 56165 broad.mit.edu 37 10 115980379 115980379 + Silent SNP G G A TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr10:115980379G>A ENST00000251864.2 + 19 2700 c.2547G>A c.(2545-2547)caG>caA p.Q849Q TDRD1_ENST00000369281.2_Silent_p.Q735Q|TDRD1_ENST00000369280.1_Silent_p.Q849Q|TDRD1_ENST00000422662.1_Silent_p.Q453Q|TDRD1_ENST00000369282.1_Silent_p.Q849Q NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 849 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding p.Q849H(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) CAAGATTCCAGATGTGTGTTG 0.388000 4 78 0 0 0.014758 0 0 FEZF1 389549 broad.mit.edu 37 7 121942271 121942271 + Missense_Mutation SNP G G A TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr7:121942271G>A ENST00000442488.2 - 4 1275 c.1208C>T c.(1207-1209)cCc>cTc p.P403L FEZF1_ENST00000331178.4_Missense_Mutation_p.P399L|FEZF1_ENST00000427185.2_Missense_Mutation_p.P353L NM_001024613.2|NM_001160264.1 NP_001019784.2|NP_001153736.1 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 403 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1) 25 GCCGCACGTGGGGCAGGTGAA 0.562000 20 112 0 0 0.012319 0 0 PSMC1 5700 broad.mit.edu 37 14 90730032 90730032 + Silent SNP G G C TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr14:90730032G>C ENST00000261303.8 + 5 409 c.306G>C c.(304-306)ctG>ctC p.L102L PSMC1_ENST00000543772.2_Silent_p.L29L NM_002802.2 NP_002793.2 P62191 PRS4_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 1 102 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|protein binding endometrium(2)|kidney(2)|upper_aerodigestive_tract(2) 6 all_cancers(154;0.142) COAD - Colon adenocarcinoma(157;0.21) TGGATGATCTGAGGGGGACCC 0.443000 9 71 0 0 0.008291 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr16:90161926T>C ENST00000567960.1 + 0 662 TUBB8P7_ENST00000564451.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 3 37 0 0 0.004672 0 0 NPHP4 261734 broad.mit.edu 37 1 5947504 5947504 + Missense_Mutation SNP G G A TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr1:5947504G>A ENST00000378156.4 - 18 2592 c.2327C>T c.(2326-2328)cCg>cTg p.P776L NPHP4_ENST00000478423.2_5'UTR NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephronophthisis 4 776 P -> R (in NPHP4). actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4) 47 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) CTGCACAGCCGGCCGGCCTTG 0.637000 10 46 0 0 0.016723 0 0 KIAA1462 57608 broad.mit.edu 37 10 30336618 30336618 + Missense_Mutation SNP C C T TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr10:30336618C>T ENST00000375377.1 - 2 225 c.124G>A c.(124-126)Ggc>Agc p.G42S NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 42 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 TTCTGCAGGCCCTGGCCTGCT 0.637000 7 47 0 0 0.003080 0 0 HIST1H4B 8366 broad.mit.edu 37 6 26027283 26027283 + Silent SNP C C T TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr6:26027283C>T ENST00000377364.3 - 1 197 c.198G>A c.(196-198)gtG>gtA p.V66V NM_003544.2 NP_003535.1 P62805 H4_HUMAN histone cluster 1, H4b 66 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 13 CGTCCCGGATCACGTTCTCCA 0.572000 OREG0017238 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 70 0 0 0.014758 0 0 INSM2 84684 broad.mit.edu 37 14 36004166 36004166 + Silent SNP C C T TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr14:36004166C>T ENST00000307169.3 + 1 919 c.708C>T c.(706-708)gtC>gtT p.V236V NM_032594.3 NP_115983.3 Q96T92 INSM2_HUMAN insulinoma-associated 2 236 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 10 Breast(36;0.122)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452) GBM - Glioblastoma multiforme(112;0.0223) CATCCCCTGTCCTGGGCCTGA 0.662000 8 23 0 0 0.008291 0 0 KIRREL2 84063 broad.mit.edu 37 19 36353394 36353394 + Splice_Site SNP G G T TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr19:36353394G>T ENST00000360202.5 + 12 1708 c.e12-1 KIRREL2_ENST00000586102.2_Splice_Site|KIRREL2_ENST00000262625.7_Splice_Site|KIRREL2_ENST00000347900.6_Splice_Site|KIRREL2_ENST00000592409.1_Intron|NPHS1_ENST00000591817.1_Intron NM_032123.5|NM_199180.2 NP_115499.4|NP_954649.2 Q6UWL6 KIRR2_HUMAN kin of IRRE like 2 (Drosophila) cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 48 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GCTCCCTGCAGACTTGCTGCC 0.617000 20 136 3.62473e-10 4.15334e-10 0.012319 1 0 ZHX1 11244 broad.mit.edu 37 8 124266308 124266308 + Missense_Mutation SNP C C G TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr8:124266308C>G ENST00000395571.3 - 3 2496 c.1879G>C c.(1879-1881)Gaa>Caa p.E627Q ZHX1_ENST00000297857.2_Missense_Mutation_p.E627Q|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522655.1_Missense_Mutation_p.E627Q NM_001017926.2|NM_007222.4 NP_001017926.1|NP_009153.3 Q9UKY1 ZHX1_HUMAN zinc fingers and homeoboxes 1 627 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) ATTTTCTCTTCCTTTAAAGCT 0.383000 3 61 0 0 0.004672 0 0 STX11 8676 broad.mit.edu 37 6 144508521 144508521 + Missense_Mutation SNP G G A TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr6:144508521G>A ENST00000367568.4 + 2 940 c.757G>A c.(757-759)Gtc>Atc p.V253I NM_003764.3 NP_003755.2 O75558 STX11_HUMAN syntaxin 11 253 t-SNARE coiled-coil homology. cellular membrane fusion|intracellular protein transport|vesicle-mediated transport Golgi apparatus|membrane SNAP receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 12 OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492) ACAAAAGACGGTCGACTACAC 0.627000 Familial Hemophagocytic Lymphohistiocytosis 4 30 0 0 0.014758 0 0 GRB10 2887 broad.mit.edu 37 7 50674050 50674050 + Missense_Mutation SNP G G A TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr7:50674050G>A ENST00000403097.1 - 13 2018 c.1238C>T c.(1237-1239)cCg>cTg p.P413L GRB10_ENST00000398812.2_Missense_Mutation_p.P419L|GRB10_ENST00000439599.1_Missense_Mutation_p.P413L|GRB10_ENST00000357271.5_Missense_Mutation_p.P373L|GRB10_ENST00000401949.1_Missense_Mutation_p.P419L|GRB10_ENST00000407526.1_Missense_Mutation_p.P361L|GRB10_ENST00000402578.1_Missense_Mutation_p.P361L|GRB10_ENST00000402497.1_Missense_Mutation_p.P361L|GRB10_ENST00000398810.2_Missense_Mutation_p.P361L|GRB10_ENST00000335866.3_Missense_Mutation_p.P361L|GRB10_ENST00000406641.1_Missense_Mutation_p.P361L Q13322 GRB10_HUMAN growth factor receptor-bound protein 10 419 insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane insulin receptor binding|SH3/SH2 adaptor activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 41 Glioma(55;0.08)|all_neural(89;0.245) CGTCGAGAACGGGGACAGCAA 0.527000 Russell-Silver syndrome 17 97 0 0 0.033300 0 0 DGKE 8526 broad.mit.edu 37 17 54923105 54923105 + Missense_Mutation SNP C C A TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr17:54923105C>A ENST00000284061.3 + 4 859 c.679C>A c.(679-681)Cgt>Agt p.R227S DGKE_ENST00000576869.1_3'UTR NM_003647.2 NP_003638.1 P52429 DGKE_HUMAN diacylglycerol kinase, epsilon 64kDa 227 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 Breast(9;3.59e-07) GGCCAACTCTCGTAGTGGAAC 0.363000 3 71 0.00909568 0.00962043 0.009096 1 0 MROH7 374977 broad.mit.edu 37 1 55118866 55118866 + Silent SNP C C A TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr1:55118866C>A ENST00000414150.2 + 3 545 c.267C>A c.(265-267)atC>atA p.I89I MROH7_ENST00000421030.2_Silent_p.I89I|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000395690.2_Silent_p.I89I|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000339553.5_Silent_p.I89I|MROH7_ENST00000454855.2_Intron maestro heat-like repeat family member 7 GCAGAGCTATCGCTCCAGCCT 0.557000 4 93 0.00909568 0.00962043 0.009096 1 0 KCNJ8 3764 broad.mit.edu 37 12 21926400 21926400 + Missense_Mutation SNP G G A TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr12:21926400G>A ENST00000240662.2 - 2 496 c.151C>T c.(151-153)Cgt>Tgt p.R51C NM_004982.3 NP_004973.1 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel, subfamily J, member 8 51 voltage-gated potassium channel complex cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 Levosimendan(DB00922) CCTTGCTCACGGATGTTCTTA 0.602000 OREG0021704 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 73 0 0 0.013537 0 0 POLR2A 5430 broad.mit.edu 37 17 7416619 7416619 + Missense_Mutation SNP C C T TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr17:7416619C>T ENST00000322644.6 + 29 5435 c.5036C>T c.(5035-5037)tCa>tTa p.S1679L NM_000937.4 NP_000928.1 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 1679 52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN]. mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) cccagctactcacccacttcc 0.617000 3 13 0 0 0.004672 0 0 FAM153A 285596 broad.mit.edu 37 5 177163583 177163583 + Nonsense_Mutation SNP C C A rs143733594 TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr5:177163583C>A ENST00000440605.3 - 11 713 c.430G>T c.(430-432)Gaa>Taa p.E144* FAM153A_ENST00000513554.1_Intron|FAM153A_ENST00000510276.1_Nonsense_Mutation_p.E144*|FAM153A_ENST00000393518.3_Intron NM_173663.3 NP_775934.3 Q9UHL3 F153A_HUMAN family with sequence similarity 153, member A 144 p.E144K(3) kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1) 11 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TACGTACATTCGGCCAGTGTG 0.458000 4 71 0.00909568 0.00962043 0.009096 1 0 ZNF276 92822 broad.mit.edu 37 16 89804234 89804234 + Missense_Mutation SNP G G C TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr16:89804234G>C ENST00000289816.5 + 10 1582 c.1270G>C c.(1270-1272)Gac>Cac p.D424H ZNF276_ENST00000443381.2_Missense_Mutation_p.D499H|ZNF276_ENST00000446326.2_Missense_Mutation_p.D285H|FANCA_ENST00000389301.3_3'UTR|ZNF276_ENST00000568064.1_Missense_Mutation_p.D407H NM_152287.3 NP_689500.2 Q8N554 ZN276_HUMAN zinc finger protein 276 499 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1) 14 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) CTATATCTGTGACGAATGTGG 0.557000 3 72 0 0 0.004672 0 0 MEIS2 4212 broad.mit.edu 37 15 37184422 37184422 + Silent SNP A A G TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr15:37184422A>G ENST00000338564.5 - 13 1811 c.1365T>C c.(1363-1365)tcT>tcC p.S455S MEIS2_ENST00000382766.2_Silent_p.S455S|MEIS2_ENST00000444725.1_3'UTR|MEIS2_ENST00000559085.1_3'UTR|MEIS2_ENST00000561208.1_Silent_p.S462S|MEIS2_ENST00000219869.9_3'UTR|MEIS2_ENST00000557796.2_3'UTR|MEIS2_ENST00000424352.2_3'UTR|MEIS2_ENST00000397620.2_3'UTR|MEIS2_ENST00000340545.5_3'UTR|MEIS2_ENST00000397624.3_3'UTR NM_001220482.1 NP_001207411.1 O14770 MEIS2_HUMAN Meis homeobox 2 462 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155) all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288) TGGGATCTACAGAATTTAACA 0.483000 46 301 0 0 0.014410 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 4 57 0 0 0.009096 0 0 GRHL2 79977 broad.mit.edu 37 8 102589743 102589743 + Silent SNP C C T TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr8:102589743C>T ENST00000251808.3 + 7 1337 c.999C>T c.(997-999)gaC>gaT p.D333D GRHL2_ENST00000395927.1_Silent_p.D317D NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) 333 cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) GGGTCCTTGACATTGGTAAGT 0.483000 7 83 0 0 0.029380 0 0 HRNR 388697 broad.mit.edu 37 1 152187542 152187542 + Missense_Mutation SNP T T C TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr1:152187542T>C ENST00000368801.2 - 3 6638 c.6563A>G c.(6562-6564)cAt>cGt p.H2188R FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2188 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACCGGACCCATGTCGGCCGCG 0.647000 13 243 0 0 0.008871 0 0 MYH10 4628 broad.mit.edu 37 17 8526560 8526560 + Missense_Mutation SNP G G C TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr17:8526560G>C ENST00000360416.3 - 2 143 c.5C>G c.(4-6)gCg>gGg p.A2G MYH10_ENST00000396239.1_Missense_Mutation_p.A2G|MYH10_ENST00000379980.4_Missense_Mutation_p.A2G|MYH10_ENST00000269243.4_Missense_Mutation_p.A2G NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 2 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 AGTTCTCTGCGCCATTGTAAA 0.433000 4 50 0 0 0.009096 0 0 CELSR2 1952 broad.mit.edu 37 1 109794913 109794915 + In_Frame_Del DEL GAT GAT - TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr1:109794913_109794915delGAT ENST00000271332.3 + 1 2273_2275 c.2212_2214delGAT c.(2212-2214)del p.D738del NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 738 Cadherin 6. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CAGCGCCACGGATGAGGACACAG 0.596 9 54 --- --- --- --- IGKV2D-24 28885 broad.mit.edu 37 2 90044356 90044356 + RNA DEL G G - TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr2:90044356delG ENST00000462693.1 + 0 307 CAGTGGGGCAGGGACAGATTT 0.517 34 242 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179585124 179585128 + Frame_Shift_Del DEL CAGAG CAGAG - TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr2:179585124_179585128delCAGAG ENST00000589042.1 - 80 23585_23589 c.23361_23365delCTCTG c.(23359-23367)tgtcfs p.CSV7787fs TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.CSV7470fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.CSV6543fs|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7470 Ig-like 60. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTGAACTTGACAGAGCAAGAACACG 0.405 14 164 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7576868 7576886 + Frame_Shift_Del DEL TTCTCCATCCAGTGGTTTC TTCTCCATCCAGTGGTTTC - rs121912659 TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chr17:7576868_7576886delTTCTCCATCCAGTGGTTTC ENST00000420246.2 - 9 1092_1110 c.960_978delGAAACCACTGGATGGAGAA c.(958-978)aafs p.KKPLDGE320fs TP53_ENST00000359597.4_Frame_Shift_Del_p.KKPLDGE320fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.KKPLDGE320fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.KKPLDGE320fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.KKPLDGE320fs|TP53_ENST00000413465.2_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 320 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2. K -> N (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.E326*(4)|p.K321fs*24(4)|p.P322fs*23(3)|p.K320N(3)|p.K321_P322insK(2)|p.P318fs*15(2)|p.D324E(2)|p.P322L(2)|p.P322R(2)|p.K321*(2)|p.G325*(1)|p.S315fs*22(1)|p.L323fs*22(1)|p.K321K(1)|p.P318fs*21(1)|p.Y327fs*10(1)|p.D324fs*29(1)|p.L323V(1)|p.L323R(1)|p.?(1)|p.L323P(1)|p.D324fs*21(1)|p.G325fs*23(1)|p.L308fs*15(1)|p.L323G(1)|p.L323M(1)|p.K320K(1)|p.G325A(1)|p.D324D(1)|p.G325E(1)|p.E326K(1)|p.D324S(1)|p.G325V(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCT 0.452 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 8 86 --- --- --- --- GPM6B 2824 broad.mit.edu 37 X 13801551 13801553 + In_Frame_Del DEL GTG GTG - TCGA-DQ-5630-01A-01D-1870-08 TCGA-DQ-5630-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa7ff44-d4ff-4163-81db-9f09bec8d5b0 febb95f7-3b98-42ae-896c-3fa1f04ef94d g.chrX:13801551_13801553delGTG ENST00000454189.2 - 3 406_408 c.279_281delCAC c.(277-282)aca>ac p.TT93del GPM6B_ENST00000398361.3_In_Frame_Del_p.TT26del|GPM6B_ENST00000316715.4_In_Frame_Del_p.TT152del|GPM6B_ENST00000356942.5_In_Frame_Del_p.TT112del|GPM6B_ENST00000355135.2_In_Frame_Del_p.TT152del|GPM6B_ENST00000493677.1_In_Frame_Del_p.TT126del NM_001001994.1 NP_001001994.1 Q13491 GPM6B_HUMAN glycoprotein M6B 112 cell differentiation|nervous system development integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1) 6 CACTGCACTTGTGGTGTAAAAGC 0.424 22 78 --- --- --- ---