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 18029034 18029034 + Silent SNP C C A TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr22:18029034C>A ENST00000262608.8 + 16 3994 c.3994C>A c.(3994-3996)Cgg>Agg p.R1332R CECR2_ENST00000400585.2_Silent_p.R1189R|CECR2_ENST00000400573.4_Silent_p.R1331R NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 1373 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) TACCCCTCAGCGGCCGGCCAG 0.622000 3 57 1 1 1 1 0 RFC5 5985 broad.mit.edu 37 12 118463581 118463581 + Missense_Mutation SNP C C G TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr12:118463581C>G ENST00000392542.2 + 8 1081 c.548C>G c.(547-549)gCa>gGa p.A183G RFC5_ENST00000454402.2_Missense_Mutation_p.A204G|RFC5_ENST00000229043.3_Missense_Mutation_p.A119G NM_181578.3 NP_853556.2 P40937 RFC5_HUMAN replication factor C (activator 1) 5, 36.5kDa 204 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme binding NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3) 9 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGAATGAAAGCACTAGTCACT 0.403000 32 35 0 0 1 0 0 ONECUT1 3175 broad.mit.edu 37 15 53080999 53080999 + Silent SNP G G A TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr15:53080999G>A ENST00000305901.5 - 1 1210 c.1083C>T c.(1081-1083)cgC>cgT p.R361R ONECUT1_ENST00000561401.2_Intron NM_004498.2 NP_004489.1 Q9UBC0 HNF6_HUMAN one cut homeobox 1 361 endocrine pancreas development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 17 all cancers(107;0.0708) GCGCGGACATGCGCTGGAACT 0.637000 27 18 0 0 1 0 0 EMR2 30817 broad.mit.edu 37 19 14875289 14875289 + Missense_Mutation SNP T T A TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr19:14875289T>A ENST00000315576.3 - 11 1491 c.1040A>T c.(1039-1041)aAc>aTc p.N347I EMR2_ENST00000594294.1_Missense_Mutation_p.N298I|EMR2_ENST00000594076.1_Missense_Mutation_p.N254I|EMR2_ENST00000392964.3_Missense_Mutation_p.N86I|EMR2_ENST00000392965.3_Missense_Mutation_p.N347I|EMR2_ENST00000353005.1_Missense_Mutation_p.N205I|EMR2_ENST00000601345.1_Missense_Mutation_p.N347I|EMR2_ENST00000392967.2_Missense_Mutation_p.N347I|EMR2_ENST00000346057.1_Missense_Mutation_p.N298I|EMR2_ENST00000595839.1_Missense_Mutation_p.N205I|EMR2_ENST00000353876.1_Missense_Mutation_p.N254I|EMR2_ENST00000596991.2_Missense_Mutation_p.N347I NM_013447.2 NP_038475.2 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone receptor-like 2 347 cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 48 ATTGGAAAGGTTCTTGCTCAG 0.587000 13 12 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161816 90161816 + RNA SNP C C T TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr16:90161816C>T ENST00000564451.1 + 0 1169 TUBB8P7_ENST00000567960.1_RNA AGCCCTACAACGCCACCCTCT 0.488000 3 31 0 0 1 0 0 PTPRU 10076 broad.mit.edu 37 1 29638247 29638247 + Silent SNP C C T TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr1:29638247C>T ENST00000373779.3 + 21 3177 c.3048C>T c.(3046-3048)gtC>gtT p.V1016V PTPRU_ENST00000460170.2_Silent_p.V1022V|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000345512.3_Silent_p.V1026V|PTPRU_ENST00000356870.3_Silent_p.V1022V|PTPRU_ENST00000323874.8_Silent_p.V1022V|PTPRU_ENST00000428026.2_Silent_p.V1013V NM_001195001.1|NM_133178.3 NP_001181930.1|NP_573439.2 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 1026 Tyrosine-protein phosphatase 1. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) CTGAGTATGTCGTGCGCACTT 0.602000 46 84 0 0 1 0 0 FOXA1 3169 broad.mit.edu 37 14 38061208 38061208 + Missense_Mutation SNP G G C TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr14:38061208G>C ENST00000250448.2 - 2 842 c.781C>G c.(781-783)Cgc>Ggc p.R261G FOXA1_ENST00000540786.1_Missense_Mutation_p.R228G|FOXA1_ENST00000545425.2_5'UTR NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 261 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) TTCTGGCGGCGCAAGTAGCAG 0.716000 13 9 0 0 1 0 0 ATF2 1386 broad.mit.edu 37 2 175962238 175962238 + Missense_Mutation SNP C C A TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr2:175962238C>A ENST00000264110.2 - 11 1210 c.912G>T c.(910-912)agG>agT p.R304S ATF2_ENST00000409635.1_Missense_Mutation_p.R246S|ATF2_ENST00000538946.1_Missense_Mutation_p.R286S|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000345739.5_Missense_Mutation_p.R246S|ATF2_ENST00000426833.3_Missense_Mutation_p.R286S|ATF2_ENST00000409437.1_Missense_Mutation_p.R188S|ATF2_ENST00000392544.1_Missense_Mutation_p.R304S|ATF2_ENST00000487334.2_3'UTR NM_001256090.1|NM_001256091.1|NM_001880.3 NP_001243019.1|NP_001243020.1|NP_001871.2 P15336 ATF2_HUMAN activating transcription factor 2 304 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nucleoplasm protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.125) CTGACTGAGTCCTAACCAATC 0.453000 44 52 2.77807e-22 3.09257e-22 1 1 0 SQRDL 58472 broad.mit.edu 37 15 45968418 45968418 + Silent SNP C C T TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr15:45968418C>T ENST00000260324.7 + 6 1160 c.774C>T c.(772-774)aaC>aaT p.N258N SQRDL_ENST00000568606.1_Silent_p.N258N|RP11-96O20.4_ENST00000564080.1_Silent_p.N258N NM_021199.2 NP_067022.1 Q9Y6N5 SQRD_HUMAN sulfide quinone reductase-like (yeast) 258 oxidoreductase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 11 Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417) all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188) TCACTGTTAACTACAAGAAAA 0.458000 49 65 0 0 1 0 0 ITGA4 3676 broad.mit.edu 37 2 182339937 182339937 + Missense_Mutation SNP C C A TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr2:182339937C>A ENST00000397033.2 + 4 908 c.478C>A c.(478-480)Ctc>Atc p.L160I ITGA4_ENST00000478440.1_Intron|ITGA4_ENST00000339307.4_Missense_Mutation_p.L160I NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 160 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) TGAAAATAAGCTCCCCACTGG 0.383000 41 52 6.1244e-12 6.4525e-12 1 1 0 SLC34A2 10568 broad.mit.edu 37 4 25673235 25673235 + Missense_Mutation SNP G G A TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr4:25673235G>A ENST00000382051.3 + 9 990 c.940G>A c.(940-942)Gtc>Atc p.V314I SLC34A2_ENST00000504570.1_Missense_Mutation_p.V313I|SLC34A2_ENST00000503434.1_Missense_Mutation_p.V313I NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 314 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) CCAGATTAACGTCACTGTTCC 0.522000 T ROS1 NSCLC 79 94 0 0 1 0 0 NLK 51701 broad.mit.edu 37 17 26488195 26488195 + Silent SNP C C T TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr17:26488195C>T ENST00000407008.3 + 4 1372 c.654C>T c.(652-654)gtC>gtT p.V218V NM_016231.4 NP_057315.3 Q9UBE8 NLK_HUMAN nemo-like kinase 218 Protein kinase. intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1) 14 all_lung(13;0.000343)|Lung NSC(42;0.00184) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) GATATGTTGTCACAGAATTGA 0.393000 10 34 0 0 1 0 0 THBS3 7059 broad.mit.edu 37 1 155173034 155173034 + Missense_Mutation SNP G G A TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr1:155173034G>A ENST00000368378.3 - 6 756 c.736C>T c.(736-738)Cgg>Tgg p.R246W RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000487250.1_5'UTR|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.R126W|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000428962.2_Intron|THBS3_ENST00000541990.1_5'UTR NM_001252607.1|NM_007112.4 NP_001239536.1|NP_009043.1 P49746 TSP3_HUMAN thrombospondin 3 246 cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) ATATCATCCCGCAGCTCCACC 0.602000 10 20 0 0 1 0 0 SLC35F4 341880 broad.mit.edu 37 14 58030926 58030926 + Missense_Mutation SNP T T A TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr14:58030926T>A ENST00000556826.1 - 8 1621 c.1385A>T c.(1384-1386)gAt>gTt p.D462V SLC35F4_ENST00000339762.6_Missense_Mutation_p.D498V|SLC35F4_ENST00000554729.1_Missense_Mutation_p.D339V NM_001206920.1 NP_001193849.1 solute carrier family 35, member F4 breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 ATCAGTCACATCATCCACATG 0.498000 6 8 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108218045 108218045 + Missense_Mutation SNP A A G TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr11:108218045A>G ENST00000278616.4 + 59 9009 c.8624A>G c.(8623-8625)aAt>aGt p.N2875S C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.N2875S|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2875 PI3K/PI4K. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.N2875T(1) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) CATGTACAGAATATCTTGATA 0.303000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 61 5 0 0 1 0 0 UNC13D 201294 broad.mit.edu 37 17 73831510 73831510 + Missense_Mutation SNP G G A TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr17:73831510G>A ENST00000207549.4 - 20 2207 c.1828C>T c.(1828-1830)Cgc>Tgc p.R610C UNC13D_ENST00000412096.2_Missense_Mutation_p.R610C NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) 610 MHD1. positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) TGCACAGCGCGCTGCACCCGC 0.677000 Familial Hemophagocytic Lymphohistiocytosis 3 13 0 0 1 0 0 GRM1 2911 broad.mit.edu 37 6 146625847 146625847 + Missense_Mutation SNP G G C TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr6:146625847G>C ENST00000392299.2 + 4 1521 c.1051G>C c.(1051-1053)Gat>Cat p.D351H GRM1_ENST00000492807.2_Missense_Mutation_p.D351H|GRM1_ENST00000355289.4_Missense_Mutation_p.D351H|GRM1_ENST00000361719.2_Missense_Mutation_p.D351H|GRM1_ENST00000282753.1_Missense_Mutation_p.D351H|GRM1_ENST00000507907.1_Missense_Mutation_p.D351H Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 351 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CAGGTCATTTGATGATTATTT 0.507000 11 12 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10356590 10356590 + Missense_Mutation SNP G G A TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr17:10356590G>A ENST00000255381.2 - 24 3100 c.2990C>T c.(2989-2991)aCc>aTc p.T997I CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 997 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 CTTCTCCTTGGTCAGCTTAGC 0.478000 8 181 0 0 1 0 0 SLC2A11 66035 broad.mit.edu 37 22 24225971 24225971 + Missense_Mutation SNP G G A rs79905160 byFrequency TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr22:24225971G>A ENST00000345044.6 + 9 1265 c.997G>A c.(997-999)Gag>Aag p.E333K SLC2A11_ENST00000398356.2_Missense_Mutation_p.E340K|SLC2A11_ENST00000316185.8_Missense_Mutation_p.E336K|AP000350.10_ENST00000433835.3_Intron Q9BYW1 GTR11_HUMAN solute carrier family 2 (facilitated glucose transporter), member 11 333 integral to membrane|plasma membrane sugar transmembrane transporter activity endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2) 12 TGTGGTAATCGAGAGGGTGGG 0.617000 24 37 0 0 1 0 0 FAM27L 284123 broad.mit.edu 37 17 21825425 21825425 + RNA SNP G G A TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr17:21825425G>A ENST00000426869.3 + 0 129 NR_028336.1 family with sequence similarity 27-like central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463) tcggggctccgaggctccggc 0.622000 7 12 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114292293 114292293 + Missense_Mutation SNP G G A TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr7:114292293G>A ENST00000393500.3 + 15 1725 c.905G>A c.(904-906)aGc>aAc p.S302N FOXP2_ENST00000360232.4_Missense_Mutation_p.S377N|FOXP2_ENST00000393494.2_Missense_Mutation_p.S377N|FOXP2_ENST00000408937.3_Missense_Mutation_p.S402N|FOXP2_ENST00000393489.3_Missense_Mutation_p.S285N|FOXP2_ENST00000403559.4_Missense_Mutation_p.S394N|FOXP2_ENST00000393498.2_Missense_Mutation_p.S356N|FOXP2_ENST00000390668.3_Missense_Mutation_p.S401N|FOXP2_ENST00000393491.3_Missense_Mutation_p.S285N|FOXP2_ENST00000350908.4_Missense_Mutation_p.S377N O15409 FOXP2_HUMAN forkhead box P2 377 DLTTNNSSSTTSSNT -> EEFPVQGPAAVCAGL (in Ref. 10; AAB91439). camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 GATGACCGAAGCACTGCTCAG 0.418000 5 52 0 0 1 0 0 ACCSL 390110 broad.mit.edu 37 11 44069708 44069708 + Missense_Mutation SNP C C T TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr11:44069708C>T ENST00000378832.1 + 1 178 c.122C>T c.(121-123)aCg>aTg p.T41M NM_001031854.2 NP_001027025.2 Q4AC99 1A1L2_HUMAN 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like 41 1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2) 34 CAGGCCATGACGGAGCACTTC 0.592000 15 21 0 0 1 0 0 ARRDC5 645432 broad.mit.edu 37 19 4902803 4902803 + Missense_Mutation SNP G G A TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr19:4902803G>A ENST00000381781.2 - 1 76 c.77C>T c.(76-78)cCc>cTc p.P26L NM_001080523.1 NP_001073992.1 A6NEK1 ARRD5_HUMAN arrestin domain containing 5 26 signal transduction endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257) TCTATCCTCGGGCAGCACTAA 0.552000 38 54 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 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 5 31 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9064067 9064067 + Missense_Mutation SNP G G C TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr19:9064067G>C ENST00000397910.4 - 3 23582 c.23379C>G c.(23377-23379)gaC>gaG p.D7793E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7795 Ser-rich.|Thr-rich. 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 TTGGAGATGAGTCAGCTAGGA 0.502000 4 196 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150885275 150885275 + Missense_Mutation SNP G G A TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr5:150885275G>A ENST00000261800.5 - 23 12913 c.12901C>T c.(12901-12903)Cgc>Tgc p.R4301C NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 4301 epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CGGCTGAGGCGCATACCCACC 0.667000 3 43 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 43 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25959331 25959331 + Silent SNP T T G TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr15:25959331T>G ENST00000356865.6 - 10 1945 c.1834A>C c.(1834-1836)Agg>Cgg p.R612R NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 612 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GGTGTGAACCTCCGCAGGAAG 0.597000 20 24 0 0 1 0 0 ZRANB1 54764 broad.mit.edu 37 10 126662251 126662251 + Silent SNP A A G TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr10:126662251A>G ENST00000359653.4 + 4 1565 c.1194A>G c.(1192-1194)ttA>ttG p.L398L NM_017580.2 NP_060050.2 Q9UGI0 ZRAN1_HUMAN zinc finger, RAN-binding domain containing 1 398 TRAF-binding. positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway aggresome|centrosome|intermediate filament cytoskeleton|nucleolus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 23 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172) Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119) AAGAAAAATTATTTGATGAGG 0.303000 4 207 0 0 1 0 0 IGKV3-7 0 broad.mit.edu 37 2 89277991 89277991 + RNA SNP A A T TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr2:89277991A>T ENST00000390247.2 - 0 440 TGTGGGAGGTAAGTTATAATC 0.443000 12 14 0 0 1 0 0 CLEC16A 23274 broad.mit.edu 37 16 11051757 11051757 + Missense_Mutation SNP T T G TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr16:11051757T>G ENST00000409790.1 + 2 429 c.199T>G c.(199-201)Tct>Gct p.S67A CLEC16A_ENST00000409552.3_Missense_Mutation_p.S67A NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 67 breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 AAATGACAGCTCTGTATTTGA 0.403000 4 83 0 0 1 0 0 SASH3 54440 broad.mit.edu 37 X 128927070 128927070 + Silent SNP C C A rs142835579 TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chrX:128927070C>A ENST00000356892.3 + 7 1021 c.907C>A c.(907-909)Cgg>Agg p.R303R NM_018990.3 NP_061863.1 O75995 SASH3_HUMAN SAM and SH3 domain containing 3 303 SAM. p.R303R(1) breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 12 TCCACAGCACCGGGCCAAGCT 0.587000 21 0 7.45023e-12 7.71164e-12 1 1 0 RHOT1 55288 broad.mit.edu 37 17 30529851 30529851 + Missense_Mutation SNP A A G TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr17:30529851A>G ENST00000358365.3 + 15 1491 c.1264A>G c.(1264-1266)Aat>Gat p.N422D RHOT1_ENST00000583994.1_Missense_Mutation_p.N295D|RHOT1_ENST00000545287.2_Missense_Mutation_p.N422D|RHOT1_ENST00000394692.2_Missense_Mutation_p.N422D|RHOT1_ENST00000354266.3_Missense_Mutation_p.N401D|RHOT1_ENST00000333942.6_Missense_Mutation_p.N422D|RHOT1_ENST00000581094.1_Missense_Mutation_p.N422D NM_001033568.1 NP_001028740.1 Q8IXI2 MIRO1_HUMAN ras homolog family member T1 422 Miro 2. apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane calcium ion binding|GTP binding|GTPase activity|protein binding NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182) GTTCAGATGTAATGTAATTGG 0.313000 20 24 0 0 1 0 0 VPS11 55823 broad.mit.edu 37 11 118949846 118949846 + Missense_Mutation SNP G G T TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr11:118949846G>T ENST00000300793.6 + 15 2313 c.2271G>T c.(2269-2271)caG>caT p.Q757H VPS11_ENST00000527798.1_3'UTR NM_021729.4 NP_068375.3 Q9H270 VPS11_HUMAN vacuolar protein sorting 11 homolog (S. cerevisiae) 758 protein transport endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane nucleotide binding|protein binding|zinc ion binding autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 29 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.88e-05) CAGTGGTGCAGACCCTGGCCC 0.552000 21 4 9.95505e-16 1.08768e-15 1 1 0 ANKHD1 54882 broad.mit.edu 37 5 139907827 139907827 + Missense_Mutation SNP C C A TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr5:139907827C>A ENST00000297183.6 + 29 5420 c.5296C>A c.(5296-5298)Cct>Act p.P1766T ANKHD1_ENST00000360839.2_Missense_Mutation_p.P1766T|ANKHD1_ENST00000544120.1_Missense_Mutation_p.P149T|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P1766T NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATTCAAGATCCTGCTAAGGA 0.383000 28 39 7.26314e-15 7.79137e-15 1 1 0 RUFY2 55680 broad.mit.edu 37 10 70105526 70105526 + Nonstop_Mutation SNP C C A TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr10:70105526C>A ENST00000388768.2 - 18 2251 c.1925G>T c.(1924-1926)tGa>tTa p.*642L RUFY2_ENST00000602465.1_Nonstop_Mutation_p.*607L|RUFY2_ENST00000265865.3_Nonstop_Mutation_p.*197L NM_017987.4 NP_060457.4 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain containing 2 0 nucleus metal ion binding NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2) 20 TCTGGAGTCTCAGGGCAAGTT 0.423000 24 37 1.22574e-08 1.24687e-08 1 1 0 CDH11 1009 broad.mit.edu 37 16 65038589 65038589 + Missense_Mutation SNP C C T TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr16:65038589C>T ENST00000394156.3 - 3 637 c.184G>A c.(184-186)Gtg>Atg p.V62M CDH11_ENST00000566827.1_Intron|CDH11_ENST00000569624.1_5'UTR|CDH11_ENST00000268603.4_Missense_Mutation_p.V62M P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 62 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) TCCTCTATCACGAAGAACTGG 0.612000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 10 1 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120976076 120976076 + Silent SNP G G A TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr3:120976076G>A ENST00000273666.6 + 17 1999 c.1728G>A c.(1726-1728)ccG>ccA p.P576P STXBP5L_ENST00000472879.1_Silent_p.P576P|STXBP5L_ENST00000471454.1_Silent_p.P576P|STXBP5L_ENST00000492541.1_Silent_p.P576P|STXBP5L_ENST00000497029.1_Silent_p.P576P NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 576 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) CAAGTCCTCCGTTTCCAGATC 0.393000 8 131 0 0 1 0 0 CHMP4B 128866 broad.mit.edu 37 20 32441333 32441333 + Missense_Mutation SNP G G C TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr20:32441333G>C ENST00000217402.2 + 5 807 c.642G>C c.(640-642)atG>atC p.M214I NM_176812.4 NP_789782.1 Q9H444 CHM4B_HUMAN charged multivesicular body protein 4B 214 cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 ACGACGACATGAAGGAATTGG 0.557000 15 11 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977327 29977327 + RNA SNP T T C rs143365191 by1000genomes TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr6:29977327T>C ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA GACAGCTGCCTTGTGTGGGAC 0.438000 3 35 0 0 1 0 0 DOCK10 55619 broad.mit.edu 37 2 225698898 225698898 + Missense_Mutation SNP T T A TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr2:225698898T>A ENST00000409592.3 - 26 3028 c.2915A>T c.(2914-2916)aAt>aTt p.N972I DOCK10_ENST00000258390.7_Missense_Mutation_p.N978I Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 978 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TGTTGAGTCATTTGATTTCAA 0.403000 33 35 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr6:29977342A>T ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 3 32 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42473001 42473001 + Missense_Mutation SNP C C T TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr19:42473001C>T ENST00000545399.1 - 20 2947 c.2794G>A c.(2794-2796)Gtc>Atc p.V932I ATP1A3_ENST00000543770.1_Missense_Mutation_p.V930I|ATP1A3_ENST00000302102.5_Missense_Mutation_p.V919I|ATP1A3_ENST00000602133.1_Missense_Mutation_p.V889I NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 919 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 GCCCACTGGACGACAACGATG 0.607000 28 19 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 4 45 0 0 1 0 0 DDX54 79039 broad.mit.edu 37 12 113612881 113612881 + Silent SNP G G A TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr12:113612881G>A ENST00000314045.7 - 8 861 c.834C>T c.(832-834)tcC>tcT p.S278S DDX54_ENST00000306014.5_Silent_p.S278S NM_001111322.1 NP_001104792.1 Q8TDD1 DDX54_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 278 Helicase ATP-binding. estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nucleolus ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GCAGCGTGGCGGAGAACAGCA 0.667000 OREG0022139 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 26 0 0 1 0 0 BMS1 9790 broad.mit.edu 37 10 43279996 43279996 + Missense_Mutation SNP C C T TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr10:43279996C>T ENST00000374518.4 + 2 217 c.154C>T c.(154-156)Cgg>Tgg p.R52W NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 52 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GTCTGCTGTGCGGATGGCTCG 0.463000 26 32 0 0 1 0 0 RBP1 5947 broad.mit.edu 37 3 139258317 139258318 + Frame_Shift_Del DEL AC AC - TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr3:139258317_139258318delAC ENST00000483943.2 - 1 243_244 c.243_244delGT c.(241-246)gaacfs p.EY81fs RBP1_ENST00000492918.1_Frame_Shift_Del_p.EY81fs|RP11-319G6.1_ENST00000515247.1_RNA|RBP1_ENST00000232219.2_Frame_Shift_Del_p.EY81fs NM_001130993.1 NP_001124465.1 P09455 RET1_HUMAN retinol binding protein 1, cellular 19 cytoplasm retinal binding|retinol binding|transporter activity endometrium(1)|large_intestine(2)|lung(1)|prostate(1) 5 Vitamin A(DB00162) GCGCGCAGGTACTCCTCGAAAT 0.673 11 2 --- --- --- --- BNIP1 662 broad.mit.edu 37 5 172578611 172578611 + Frame_Shift_Del DEL T T - TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr5:172578611delT ENST00000231668.9 + 3 324 c.220delT c.(220-222)ttfs p.F76fs BNIP1_ENST00000393770.4_Intron|BNIP1_ENST00000352523.6_Frame_Shift_Del_p.F76fs|BNIP1_ENST00000351486.5_Intron NM_013979.2 NP_053582.2 Q12981 SEC20_HUMAN BCL2/adenovirus E1B 19kDa interacting protein 1 59 anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex protein binding breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1) 11 Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) TGCTTCCACATTTTTTTTTAA 0.348 8 90 --- --- --- --- ANK3 288 broad.mit.edu 37 10 62038573 62038574 + Frame_Shift_Ins INS - - T TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr10:62038573_62038574insT ENST00000280772.1 - 4 563_564 c.372_373insA c.(370-375)aatcttfs p.NL124fs ANK3_ENST00000503366.1_Frame_Shift_Ins_p.NL107fs|ANK3_ENST00000373827.2_Frame_Shift_Ins_p.NL118fs NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 124 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 GTAACCAAGACTTTTACCACCT 0.396 86 79 --- --- --- --- DDX23 9416 broad.mit.edu 37 12 49231321 49231321 + Frame_Shift_Del DEL G G - TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr12:49231321delG ENST00000308025.3 - 7 818 c.739delC c.(739-741)tgfs p.L247fs DDX23_ENST00000553182.1_Intron NM_004818.2 NP_004809.2 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 247 catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3) 36 ATGGCATGCAGTTCCTTGCTC 0.502 70 64 --- --- --- --- TRAV26-2 0 broad.mit.edu 37 14 22670555 22670567 + RNA DEL TAATGACAAAAGA TAATGACAAAAGA - TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr14:22670555_22670567delTAATGACAAAAGA ENST00000390460.1 + 0 40 GTTTTGTGGCTAATGACAAAAGAGAGTTATCTG 0.404 8 5 --- --- --- --- HERC2P2 0 broad.mit.edu 37 15 23312380 23312380 + RNA DEL T T - TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 291c97ad-143c-40b6-9405-7b75ab8e23e4 b2e52658-fe9d-4212-b9e5-eedc1dff76f3 g.chr15:23312380delT ENST00000560464.1 - 0 3118 TGTTAttttcttttttttttt 0.398 4 9 --- --- --- ---