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 CECR2 27443 broad.mit.edu 37 22 18028150 18028150 + Missense_Mutation SNP T T C TCGA-HT-7468-01A-11D-2024-08 TCGA-HT-7468-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 053517e5-fb21-4127-b893-bdda23e4de42 219554d7-3116-498e-8f48-05286e616cc7 g.chr22:18028150T>C ENST00000262608.8 + 16 3110 c.3110T>C c.(3109-3111)aTt>aCt p.I1037T CECR2_ENST00000400585.2_Missense_Mutation_p.I894T|CECR2_ENST00000400573.4_Missense_Mutation_p.I1036T NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 1078 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) AACGGAGTCATTGGGGAAGCA 0.622000 3 32 0 0 0.004672 0 0 BAGE2 85319 broad.mit.edu 37 21 11039406 11039406 + RNA SNP T T C rs8134740 by1000genomes TCGA-HT-7468-01A-11D-2024-08 TCGA-HT-7468-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 053517e5-fb21-4127-b893-bdda23e4de42 219554d7-3116-498e-8f48-05286e616cc7 g.chr21:11039406T>C ENST00000470054.1 - 0 797 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCATTAGAAATCTGTTTTTCC 0.299000 13 128 0 0 0.013537 0 0 BRSK2 9024 broad.mit.edu 37 11 1477639 1477639 + Missense_Mutation SNP C C T TCGA-HT-7468-01A-11D-2024-08 TCGA-HT-7468-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 053517e5-fb21-4127-b893-bdda23e4de42 219554d7-3116-498e-8f48-05286e616cc7 g.chr11:1477639C>T ENST00000308219.9 + 17 2116 c.1730C>T c.(1729-1731)aCg>aTg p.T577M BRSK2_ENST00000528841.1_Missense_Mutation_p.T577M|BRSK2_ENST00000382179.1_Missense_Mutation_p.T623M|BRSK2_ENST00000544817.1_Missense_Mutation_p.T272M|BRSK2_ENST00000531197.1_Missense_Mutation_p.T577M|BRSK2_ENST00000308230.5_Missense_Mutation_p.T599M|BRSK2_ENST00000528710.1_Missense_Mutation_p.T517M|BRSK2_ENST00000526678.1_Missense_Mutation_p.T599M NM_001256627.1|NM_003957.3 NP_001243556.1|NP_003948.2 Q8IWQ3 BRSK2_HUMAN BR serine/threonine kinase 2 577 establishment of cell polarity|neuron differentiation ATP binding|magnesium ion binding|protein serine/threonine kinase activity endometrium(4)|large_intestine(1)|lung(5) 10 all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842) TACAAGGCCACGGGGGGGCCA 0.622000 4 13 0 0 0.009096 0 0 C17orf53 78995 broad.mit.edu 37 17 42225428 42225428 + Missense_Mutation SNP C C T TCGA-HT-7468-01A-11D-2024-08 TCGA-HT-7468-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 053517e5-fb21-4127-b893-bdda23e4de42 219554d7-3116-498e-8f48-05286e616cc7 g.chr17:42225428C>T ENST00000319977.4 + 3 494 c.257C>T c.(256-258)aCg>aTg p.T86M C17orf53_ENST00000585683.1_Missense_Mutation_p.T86M|C17orf53_ENST00000245382.6_Missense_Mutation_p.T86M NM_001171251.1|NM_024032.3 NP_001164722.1|NP_076937.2 Q8N3J3 CQ053_HUMAN chromosome 17 open reading frame 53 86 NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(137;0.0364)|Prostate(33;0.0376) BRCA - Breast invasive adenocarcinoma(366;0.114) GCCTCCAGCACGCCCAGTGCT 0.602000 39 66 0 0 0.008740 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-HT-7468-01A-11D-2024-08 TCGA-HT-7468-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 053517e5-fb21-4127-b893-bdda23e4de42 219554d7-3116-498e-8f48-05286e616cc7 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 4 35 0 0 0.021553 0 0 TTN 7273 broad.mit.edu 37 2 179434377 179434377 + Silent SNP G G A TCGA-HT-7468-01A-11D-2024-08 TCGA-HT-7468-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 053517e5-fb21-4127-b893-bdda23e4de42 219554d7-3116-498e-8f48-05286e616cc7 g.chr2:179434377G>A ENST00000589042.1 - 326 76706 c.76482C>T c.(76480-76482)gaC>gaT p.D25494D TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.D23853D|TTN_ENST00000342175.6_Silent_p.D16621D|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.D16429D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.D22926D|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.D16554D NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23853 Fibronectin type-III 85. 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) GTCCAGGGACGTCAGCATGTT 0.373000 5 17 0 0 0.014758 0 0 JAK3 3718 broad.mit.edu 37 19 17945744 17945744 + Missense_Mutation SNP C C A TCGA-HT-7468-01A-11D-2024-08 TCGA-HT-7468-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 053517e5-fb21-4127-b893-bdda23e4de42 219554d7-3116-498e-8f48-05286e616cc7 g.chr19:17945744C>A ENST00000458235.1 - 16 2215 c.2116G>T c.(2116-2118)Gct>Tct p.A706S JAK3_ENST00000527670.1_Missense_Mutation_p.A706S|JAK3_ENST00000534444.1_Missense_Mutation_p.A706S NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 706 Protein kinase 1. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 CACTTGTCAGCTTCCAAGCTA 0.617000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 27 37 1.77063e-15 1.97494e-15 0.027356 1 0 CIC 23152 broad.mit.edu 37 19 42791757 42791757 + Missense_Mutation SNP C C T TCGA-HT-7468-01A-11D-2024-08 TCGA-HT-7468-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 053517e5-fb21-4127-b893-bdda23e4de42 219554d7-3116-498e-8f48-05286e616cc7 g.chr19:42791757C>T ENST00000572681.2 + 6 3438 c.3370C>T c.(3370-3372)Cgg>Tgg p.R1124W CIC_ENST00000575354.2_Missense_Mutation_p.R215W|CIC_ENST00000160740.3_Missense_Mutation_p.R215W Q96RK0 CIC_HUMAN capicua transcriptional repressor 215 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.R215W(4) autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CAAGCGGCACCGGGCCCTGGT 0.612000 """Mis, F, S""" oligodendroglioma 34 13 0 0 0.017118 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-7468-01A-11D-2024-08 TCGA-HT-7468-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 053517e5-fb21-4127-b893-bdda23e4de42 219554d7-3116-498e-8f48-05286e616cc7 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 27 48 0 0 0.009535 0 0 SCN11A 11280 broad.mit.edu 37 3 38936278 38936278 + Missense_Mutation SNP G G T TCGA-HT-7468-01A-11D-2024-08 TCGA-HT-7468-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 053517e5-fb21-4127-b893-bdda23e4de42 219554d7-3116-498e-8f48-05286e616cc7 g.chr3:38936278G>T ENST00000302328.3 - 15 2779 c.2581C>A c.(2581-2583)Caa>Aaa p.Q861K SCN11A_ENST00000450244.1_Missense_Mutation_p.Q861K|SCN11A_ENST00000444237.2_Missense_Mutation_p.Q861K|SCN11A_ENST00000456224.3_Missense_Mutation_p.Q861K NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 861 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GGTAAGTTTTGCTTCCTGCAC 0.488000 42 62 2.24722e-20 2.60678e-20 0.014410 1 0 PIK3CA 5290 broad.mit.edu 37 3 178952072 178952072 + Missense_Mutation SNP A A G TCGA-HT-7468-01A-11D-2024-08 TCGA-HT-7468-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 053517e5-fb21-4127-b893-bdda23e4de42 219554d7-3116-498e-8f48-05286e616cc7 g.chr3:178952072A>G ENST00000263967.3 + 21 3284 c.3127A>G c.(3127-3129)Atg>Gtg p.M1043V NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1043 PI3K/PI4K. M -> I (in cancer; shows an increase in lipid kinase activity). 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.M1043V(22) 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) CATGAAACAAATGAATGATGC 0.368000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 40 44 0 0 0.027894 0 0 SLC13A1 6561 broad.mit.edu 37 7 122768985 122768985 + Silent SNP C C T TCGA-HT-7468-01A-11D-2024-08 TCGA-HT-7468-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 053517e5-fb21-4127-b893-bdda23e4de42 219554d7-3116-498e-8f48-05286e616cc7 g.chr7:122768985C>T ENST00000194130.2 - 10 1086 c.1047G>A c.(1045-1047)gtG>gtA p.V349V SLC13A1_ENST00000539873.1_3'UTR NM_022444.3 NP_071889.2 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 1 349 integral to membrane|plasma membrane sodium:sulfate symporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) GGACCAAGGTCACAATTTCTT 0.418000 13 20 0 0 0.013537 0 0 CRIPAK 285464 broad.mit.edu 37 4 1388948 1388948 + Missense_Mutation SNP A A C rs71299249 byFrequency TCGA-HT-7468-01A-11D-2024-08 TCGA-HT-7468-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 053517e5-fb21-4127-b893-bdda23e4de42 219554d7-3116-498e-8f48-05286e616cc7 g.chr4:1388948A>C ENST00000324803.4 + 1 3609 c.649A>C c.(649-651)Agt>Cgt p.S217R NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 217 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) GCCCATGTGGAGTGTTCGCCT 0.662000 4 22 0 0 0.009096 0 0 TNXB 7148 broad.mit.edu 37 6 32053695 32053695 + Missense_Mutation SNP G G A TCGA-HT-7468-01A-11D-2024-08 TCGA-HT-7468-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 053517e5-fb21-4127-b893-bdda23e4de42 219554d7-3116-498e-8f48-05286e616cc7 g.chr6:32053695G>A ENST00000375244.3 - 7 3181 c.2980C>T c.(2980-2982)Cgc>Tgc p.R994C TNXB_ENST00000375247.2_Missense_Mutation_p.R994C P22105 TENX_HUMAN tenascin XB 1081 Fibronectin type-III 2. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 ACCCGCATGCGCAGTTGGAAG 0.672000 33 42 0 0 0.027894 0 0 LPHN2 23266 broad.mit.edu 37 1 82408735 82408735 + Missense_Mutation SNP C C G TCGA-HT-7468-01A-11D-2024-08 TCGA-HT-7468-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 053517e5-fb21-4127-b893-bdda23e4de42 219554d7-3116-498e-8f48-05286e616cc7 g.chr1:82408735C>G ENST00000370728.1 + 8 1125 c.480C>G c.(478-480)tgC>tgG p.C160W LPHN2_ENST00000370730.1_Missense_Mutation_p.C160W|LPHN2_ENST00000370721.1_Missense_Mutation_p.C164W|LPHN2_ENST00000370727.1_Missense_Mutation_p.C160W|LPHN2_ENST00000370713.1_Missense_Mutation_p.C160W|LPHN2_ENST00000370725.1_Missense_Mutation_p.C160W|LPHN2_ENST00000370715.1_Missense_Mutation_p.C160W|LPHN2_ENST00000370717.2_Missense_Mutation_p.C160W|LPHN2_ENST00000359929.3_Missense_Mutation_p.C160W|LPHN2_ENST00000370723.1_Missense_Mutation_p.C160W|LPHN2_ENST00000335786.5_Missense_Mutation_p.C160W|LPHN2_ENST00000271029.4_Missense_Mutation_p.C160W|LPHN2_ENST00000394879.1_Missense_Mutation_p.C160W|LPHN2_ENST00000319517.6_Missense_Mutation_p.C160W|LPHN2_ENST00000469377.2_Intron O95490 LPHN2_HUMAN latrophilin 2 160 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) GTGCTTGGTGCAAGGACCCTC 0.408000 9 38 0 0 0.004482 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21792899 21792899 + Missense_Mutation SNP G G A TCGA-HT-7468-01A-11D-2024-08 TCGA-HT-7468-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 053517e5-fb21-4127-b893-bdda23e4de42 219554d7-3116-498e-8f48-05286e616cc7 g.chr14:21792899G>A ENST00000206660.6 + 14 1885 c.1885G>A c.(1885-1887)Gaa>Aaa p.E629K RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E591K|RPGRIP1_ENST00000307974.4_Intron|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.E629K Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 629 response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) GAATCTTTTTGAACTGCACAT 0.498000 5 94 0 0 0.014758 0 0 GALNT5 11227 broad.mit.edu 37 2 158152216 158152216 + Missense_Mutation SNP G G A rs138347479 TCGA-HT-7468-01A-11D-2024-08 TCGA-HT-7468-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 053517e5-fb21-4127-b893-bdda23e4de42 219554d7-3116-498e-8f48-05286e616cc7 g.chr2:158152216G>A ENST00000259056.4 + 4 2268 c.1783G>A c.(1783-1785)Gtt>Att p.V595I NM_014568.1 NP_055383.1 Q7Z7M9 GALT5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) 595 Catalytic subdomain A. glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 56 GGAATGTAACGTTGGTTGGTT 0.358000 8 201 0 0 0.004482 0 0 ARID1A 8289 broad.mit.edu 37 1 27105550 27105550 + Nonsense_Mutation SNP C C T TCGA-HT-7468-01A-11D-2024-08 TCGA-HT-7468-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 053517e5-fb21-4127-b893-bdda23e4de42 219554d7-3116-498e-8f48-05286e616cc7 g.chr1:27105550C>T ENST00000324856.7 + 20 5532 c.5161C>T c.(5161-5163)Cga>Tga p.R1721* ARID1A_ENST00000457599.2_Nonsense_Mutation_p.R1504*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.R49*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.R1338* NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1721 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 p.R1721*(3) 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) AGAATATTTCCGACGATGCCT 0.443000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 22 158 0 0 0.014323 0 0 C7orf63 79846 broad.mit.edu 37 7 89929253 89929253 + Missense_Mutation SNP G G A TCGA-HT-7468-01A-11D-2024-08 TCGA-HT-7468-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 053517e5-fb21-4127-b893-bdda23e4de42 219554d7-3116-498e-8f48-05286e616cc7 g.chr7:89929253G>A ENST00000389297.4 + 17 2181 c.1930G>A c.(1930-1932)Gct>Act p.A644T C7orf63_ENST00000497910.1_Missense_Mutation_p.A626T|C7orf63_ENST00000316089.8_Missense_Mutation_p.A644T NM_001039706.2|NM_001160138.1 NP_001034795.2|NP_001153610.1 A5D8W1 CG063_HUMAN chromosome 7 open reading frame 63 644 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 CAAAACTGCAGCTCATGTCAA 0.348000 20 20 0 0 0.007413 0 0 AC027612.3 0 broad.mit.edu 37 2 91899626 91899626 + RNA DEL A A - TCGA-HT-7468-01A-11D-2024-08 TCGA-HT-7468-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 053517e5-fb21-4127-b893-bdda23e4de42 219554d7-3116-498e-8f48-05286e616cc7 g.chr2:91899626delA ENST00000436174.1 - 0 168 CCAGAGGCTCAAAAAAAAAAA 0.289 4 6 --- --- --- --- NIPBL 25836 broad.mit.edu 37 5 37048690 37048693 + Frame_Shift_Del DEL TCAG TCAG - TCGA-HT-7468-01A-11D-2024-08 TCGA-HT-7468-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 053517e5-fb21-4127-b893-bdda23e4de42 219554d7-3116-498e-8f48-05286e616cc7 g.chr5:37048690_37048693delTCAG ENST00000282516.8 + 39 7175_7178 c.6676_6679delTCAG c.(6676-6681)tcfs p.SV2226fs NIPBL_ENST00000448238.2_Frame_Shift_Del_p.SV2226fs NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 2226 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TAAGAACTCCTCAGTCAATTTAAA 0.353 25 37 --- --- --- --- TDRD6 221400 broad.mit.edu 37 6 46660414 46660415 + Frame_Shift_Ins INS - - A rs145334816 TCGA-HT-7468-01A-11D-2024-08 TCGA-HT-7468-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 053517e5-fb21-4127-b893-bdda23e4de42 219554d7-3116-498e-8f48-05286e616cc7 g.chr6:46660414_46660415insA ENST00000544460.1 + 1 4803_4804 c.4549_4550insA c.(4549-4551)aaafs p.K1517fs TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1517 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GTATAATCCAGAAAAAAAAATG 0.351 7 93 --- --- --- --- HERC2P2 0 broad.mit.edu 37 15 23331163 23331163 + RNA DEL A A - TCGA-HT-7468-01A-11D-2024-08 TCGA-HT-7468-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 053517e5-fb21-4127-b893-bdda23e4de42 219554d7-3116-498e-8f48-05286e616cc7 g.chr15:23331163delA ENST00000560464.1 - 0 908 AATAAATACTAAAAAAAAAAA 0.368 3 5 --- --- --- ---