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 FRG1BP 284802 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 6 142 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47158161 47158161 + Missense_Mutation SNP T T A TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr3:47158161T>A ENST00000409792.3 - 4 4580 c.4538A>T c.(4537-4539)gAa>gTa p.E1513V NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1513 AWS. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) ACATGCTATTTCACCTTGAGC 0.353000 """N, F, S, Mis""" clear cell renal carcinoma 7 144 0 0 1 0 0 BTN2A3P 54718 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 4 94 0 0 1 0 0 H2AFY 9555 broad.mit.edu 37 5 134705828 134705828 + Missense_Mutation SNP C C A TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr5:134705828C>A ENST00000511689.1 - 3 770 c.177G>T c.(175-177)gaG>gaT p.E59D H2AFY_ENST00000312469.4_Missense_Mutation_p.E59D|H2AFY_ENST00000304332.4_Missense_Mutation_p.E59D|H2AFY_ENST00000510038.1_Missense_Mutation_p.E59D|H2AFY_ENST00000423969.2_Intron NM_001040158.1|NM_138610.2 NP_001035248.1|NP_613258.2 O75367 H2AY_HUMAN H2A histone family, member Y 59 Histone H2A. chromatin modification|dosage compensation|nucleosome assembly Barr body|nucleosome DNA binding endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GCTCCAGAATCTCCGCTGTGG 0.587000 3 16 0.00909568 0.00976122 1 1 0 SHROOM3 57619 broad.mit.edu 37 4 77661845 77661845 + Missense_Mutation SNP C C T TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr4:77661845C>T ENST00000296043.6 + 5 3472 c.2519C>T c.(2518-2520)cCc>cTc p.P840L NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 840 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) TCAGCTGAACCCCTAGGCAAC 0.562000 23 81 0 0 1 0 0 PDS5A 23244 broad.mit.edu 37 4 39924324 39924324 + Missense_Mutation SNP A A T TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr4:39924324A>T ENST00000303538.8 - 6 1111 c.572T>A c.(571-573)aTg>aAg p.M191K PDS5A_ENST00000503396.1_Missense_Mutation_p.M191K NM_001100399.1 NP_001093869.1 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) 191 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1) 39 GATAGAACTCATCAAATCTAG 0.333000 3 19 0 0 1 0 0 OR8I2 120586 broad.mit.edu 37 11 55860831 55860831 + Silent SNP A A G TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr11:55860831A>G ENST00000302124.2 + 1 79 c.48A>G c.(46-48)ggA>ggG p.G16G OR8I2_ENST00000560768.1_Silent_p.G16G Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) TCCTCTCTGGATTTGCAAATC 0.388000 81 113 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228881275 228881275 + Missense_Mutation SNP T T C TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr2:228881275T>C ENST00000392056.3 - 7 4341 c.4295A>G c.(4294-4296)gAa>gGa p.E1432G SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1432G NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1432 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CTGATCTGTTTCAATCTGAAT 0.458000 4 77 0 0 1 0 0 HEBP2 23593 broad.mit.edu 37 6 138726293 138726293 + Silent SNP T T C TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr6:138726293T>C ENST00000607197.1 + 2 391 c.114T>C c.(112-114)taT>taC p.Y38Y HEBP2_ENST00000448741.1_Silent_p.Y49Y|HEBP2_ENST00000367697.3_Silent_p.Y38Y NM_014320.2 NP_055135.1 Q9Y5Z4 HEBP2_HUMAN heme binding protein 2 38 mitochondrion endometrium(1)|large_intestine(1)|lung(3) 5 Breast(32;0.0933) GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171) CCGGAAGTTATGAGATCCGAC 0.507000 59 72 0 0 1 0 0 TAB2 23118 broad.mit.edu 37 6 149718873 149718873 + Missense_Mutation SNP A A T TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr6:149718873A>T ENST00000367456.1 + 5 2314 c.1737A>T c.(1735-1737)agA>agT p.R579S TAB2_ENST00000286332.5_Missense_Mutation_p.R579S|TAB2_ENST00000538427.1_Missense_Mutation_p.R579S|TAB2_ENST00000536230.1_Missense_Mutation_p.R547S Q9NYJ8 TAB2_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 2 579 activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|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 cytosol|endosome membrane|plasma membrane K63-linked polyubiquitin binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 22 GCCTGAAAAGATCAAATTCTA 0.343000 5 100 0 0 1 0 0 MMP8 4317 broad.mit.edu 37 11 102584138 102584138 + Missense_Mutation SNP C C A TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr11:102584138C>A ENST00000236826.3 - 10 1443 c.1345G>T c.(1345-1347)Gct>Tct p.A449S NM_002424.2 NP_002415.1 P22894 MMP8_HUMAN matrix metallopeptidase 8 (neutrophil collagenase) 449 Hemopexin-like 4. collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1) 32 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) ACTCTCTGAGCAATAAGATCA 0.343000 6 89 0.0293803 0.0307794 1 1 0 VPS8 23355 broad.mit.edu 37 3 184689502 184689502 + Nonsense_Mutation SNP C C T TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr3:184689502C>T ENST00000437079.3 + 40 3553 c.3382C>T c.(3382-3384)Cag>Tag p.Q1128* VPS8_ENST00000436792.2_Nonsense_Mutation_p.Q1126*|VPS8_ENST00000287546.4_Nonsense_Mutation_p.Q1128*|VPS8_ENST00000446204.2_Nonsense_Mutation_p.Q1036* NM_001009921.2 NP_001009921.1 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog (S. cerevisiae) 1128 zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) TGCTCTTTGCCAGAGAAATTC 0.408000 15 9 0 0 1 0 0 MED13L 23389 broad.mit.edu 37 12 116429391 116429391 + Missense_Mutation SNP A A C TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr12:116429391A>C ENST00000281928.3 - 17 3574 c.3368T>G c.(3367-3369)tTt>tGt p.F1123C NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 1123 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) TCTGTCTTTAAAGATATTCAT 0.517000 41 41 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158644382 158644382 + Missense_Mutation SNP G G A TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr1:158644382G>A ENST00000368148.3 - 9 1376 c.1196C>T c.(1195-1197)cCa>cTa p.P399L SPTA1_ENST00000368147.3_Missense_Mutation_p.P399L NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 399 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CACATCTGTTGGCAGCTCATC 0.512000 11 299 0 0 1 0 0 PSMD1 5707 broad.mit.edu 37 2 231931688 231931688 + Missense_Mutation SNP C C A TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr2:231931688C>A ENST00000308696.6 + 5 535 c.373C>A c.(373-375)Cca>Aca p.P125T PSMD1_ENST00000373635.4_Missense_Mutation_p.P125T|PSMD1_ENST00000409643.1_Missense_Mutation_p.P125T NM_002807.3 NP_002798.2 Q99460 PSMD1_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 125 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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4) 31 Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168) Bortezomib(DB00188) AGAAAAAAAACCAATTGACCA 0.378000 18 37 1.01871e-10 1.12058e-10 1 1 0 PCSK5 5125 broad.mit.edu 37 9 78790136 78790136 + Missense_Mutation SNP T T C rs62556589 TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr9:78790136T>C ENST00000376767.3 + 14 2503 c.1991T>C c.(1990-1992)aTg>aCg p.M664T PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 tggaatggaatgaaatggaat 0.423000 3 27 0 0 1 0 0 WASH3P 374666 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 4 48 0 0 1 0 0 TRPC6 7225 broad.mit.edu 37 11 101375232 101375232 + Missense_Mutation SNP T T G TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr11:101375232T>G ENST00000344327.3 - 2 892 c.468A>C c.(466-468)gaA>gaC p.E156D TRPC6_ENST00000348423.4_Missense_Mutation_p.E156D|TRPC6_ENST00000360497.4_Missense_Mutation_p.E156D|TRPC6_ENST00000532133.1_Missense_Mutation_p.E156D NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 156 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) GAGAGAGGTTTTCTTTCTTGA 0.448000 13 44 0 0 1 0 0 TAB2 23118 broad.mit.edu 37 6 149718827 149718827 + Missense_Mutation SNP A A C TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr6:149718827A>C ENST00000367456.1 + 5 2268 c.1691A>C c.(1690-1692)gAg>gCg p.E564A TAB2_ENST00000286332.5_Missense_Mutation_p.E564A|TAB2_ENST00000538427.1_Missense_Mutation_p.E564A|TAB2_ENST00000536230.1_Missense_Mutation_p.E532A Q9NYJ8 TAB2_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 2 564 activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|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 cytosol|endosome membrane|plasma membrane K63-linked polyubiquitin binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 22 TTAAAATCTGAGGTTAATGAA 0.368000 5 130 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 5 105 0 0 1 0 0 CEACAM6 4680 broad.mit.edu 37 19 42265395 42265395 + Silent SNP G G A TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr19:42265395G>A ENST00000199764.6 + 3 881 c.663G>A c.(661-663)gcG>gcA p.A221A AC011513.4_ENST00000601409.1_RNA NM_002483.4 NP_002474.3 P40199 CEAM6_HUMAN carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) 221 Ig-like C2-type 1. cell-cell signaling|signal transduction anchored to membrane|integral to plasma membrane breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797) AGAACCCAGCGAGTGCCAACC 0.542000 95 126 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr20:29625875T>C ENST00000278882.3 + 5 499 c.119T>C c.(118-120)aTc>aCc p.I40T FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T p.I40T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 7 82 0 0 1 0 0 KCNC1 3746 broad.mit.edu 37 11 17757753 17757753 + Silent SNP G G C TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr11:17757753G>C ENST00000379472.3 + 1 234 c.204G>C c.(202-204)ctG>ctC p.L68L KCNC1_ENST00000265969.6_Silent_p.L68L NM_004976.4 NP_004967.1 P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 68 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 CGCACATCCTGAACTACTACC 0.672000 25 24 0 0 1 0 0 MLLT1 4298 broad.mit.edu 37 19 6270667 6270667 + Missense_Mutation SNP G G C TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr19:6270667G>C ENST00000252674.7 - 2 279 c.116C>G c.(115-117)cCc>cGc p.P39R NM_005934.3 NP_005925.2 Q03111 ENL_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 39 YEATS. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2) 17 ACATTGCTCGGGGCCGCGGAC 0.622000 T MLL AL OREG0025198 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 30 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 3 43 0 0 1 0 0 MLPH 79083 broad.mit.edu 37 2 238419387 238419387 + Missense_Mutation SNP G G A TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr2:238419387G>A ENST00000264605.3 + 3 575 c.281G>A c.(280-282)cGc>cAc p.R94H MLPH_ENST00000445024.2_Missense_Mutation_p.R94H|MLPH_ENST00000410032.1_Missense_Mutation_p.R94H|MLPH_ENST00000338530.4_Missense_Mutation_p.R94H|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000409373.1_Missense_Mutation_p.R94H NM_024101.5 NP_077006.1 Q9BV36 MELPH_HUMAN melanophilin 94 RabBD. metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 25 Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203) Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316) AGCTGTGGCCGCGTCCACCCG 0.597000 3 46 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152466570 152466570 + Missense_Mutation SNP T T C TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr2:152466570T>C ENST00000427231.2 - 81 12285 c.12083A>G c.(12082-12084)gAt>gGt p.D4028G NEB_ENST00000409198.1_Missense_Mutation_p.D3785G|NEB_ENST00000397345.3_Missense_Mutation_p.D4028G|NEB_ENST00000603639.1_Missense_Mutation_p.D4028G|NEB_ENST00000172853.10_Missense_Mutation_p.D3785G|NEB_ENST00000604864.1_Missense_Mutation_p.D4028G NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 4027 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CTTGGGATCATCTTCAATGCT 0.418000 19 31 0 0 1 0 0 JOSD2 126119 broad.mit.edu 37 19 51013652 51013652 + Missense_Mutation SNP T T C TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr19:51013652T>C ENST00000598418.1 - 2 290 c.37A>G c.(37-39)Acc>Gcc p.T13A JOSD2_ENST00000391815.3_Missense_Mutation_p.T13A|JOSD2_ENST00000601423.1_Missense_Mutation_p.T13A|JOSD2_ENST00000595669.1_Missense_Mutation_p.T13A NM_001270639.1|NM_001270640.1 NP_001257568.1|NP_001257569.1 Q8TAC2 JOS2_HUMAN Josephin domain containing 2 13 Josephin. protein deubiquitination ubiquitin-specific protease activity kidney(1)|lung(3)|prostate(1) 5 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364) TGGTACACGGTGGGTGGGCTC 0.662000 42 43 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139889715 139889715 + Silent SNP G G A TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr5:139889715G>A ENST00000297183.6 + 22 4177 c.4053G>A c.(4051-4053)gtG>gtA p.V1351V ANKHD1_ENST00000360839.2_Silent_p.V1351V|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.V1351V 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) GTGCTGATGTGGATGCAGCAG 0.423000 8 56 0 0 1 0 0 EIF5B 9669 broad.mit.edu 37 2 99978277 99978277 + Missense_Mutation SNP G G T TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr2:99978277G>T ENST00000289371.5 + 4 1115 c.913G>T c.(913-915)Gca>Tca p.A305S NM_015904.3 NP_056988.3 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 305 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TCCCACAGCTGCAGAAGGTTG 0.388000 4 170 0.150653 0.154157 1 1 0 MGAT4A 11320 broad.mit.edu 37 2 99256446 99256446 + Missense_Mutation SNP G G A TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr2:99256446G>A ENST00000393487.1 - 12 1460 c.1147C>T c.(1147-1149)Cca>Tca p.P383S MGAT4A_ENST00000414521.2_Missense_Mutation_p.P255S|MGAT4A_ENST00000264968.2_Missense_Mutation_p.P383S|MGAT4A_ENST00000409391.1_Missense_Mutation_p.P383S NM_012214.2 NP_036346.1 Q9UM21 MGT4A_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A 383 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 19 AGAAGTAATGGTTTCATATAA 0.343000 6 65 0 0 1 0 0 SLC22A5 6584 broad.mit.edu 37 5 131719958 131719958 + Missense_Mutation SNP G G C TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr5:131719958G>C ENST00000245407.3 + 3 838 c.617G>C c.(616-618)gGc>gCc p.G206A SLC22A5_ENST00000435065.2_Missense_Mutation_p.G230A NM_003060.3 NP_003051.1 O76082 S22A5_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 5 206 positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport apical plasma membrane|brush border membrane|integral to membrane ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1) 8 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) GTAGGCATGGGCCAGATCTCC 0.483000 31 49 0 0 1 0 0 ARHGEF19 128272 broad.mit.edu 37 1 16532568 16532568 + Frame_Shift_Del DEL C C - TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr1:16532568delC ENST00000270747.3 - 8 1445 c.1309delG c.(1309-1311)acfs p.D437fs ARHGEF19_ENST00000421561.1_Frame_Shift_Del_p.D437fs|ARHGEF19_ENST00000478117.1_5'UTR NM_153213.3 NP_694945.2 Q8IW93 ARHGJ_HUMAN Rho guanine nucleotide exchange factor (GEF) 19 437 DH. regulation of actin cytoskeleton organization intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649) TGCTCCAGGTCCTGCAGGAAC 0.657 2 4 --- --- --- --- MAN1C1 57134 broad.mit.edu 37 1 25944705 25944705 + Frame_Shift_Del DEL C C - TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr1:25944705delC ENST00000374332.4 + 1 747 c.417delC c.(415-417)gtfs p.V139fs MAN1C1_ENST00000263979.3_5'UTR NM_020379.2 NP_065112.1 Q9NR34 MA1C1_HUMAN mannosidase, alpha, class 1C, member 1 139 post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232) UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803) ACGAGGGCGTCCCTTTCCGCT 0.716 2 4 --- --- --- --- TCHH 7062 broad.mit.edu 37 1 152082957 152082959 + In_Frame_Del DEL CTC CTC - rs143222885 by1000genomes TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr1:152082957_152082959delCTC ENST00000368804.1 - 2 2733_2735 c.2734_2736delGAG c.(2734-2736)del p.E912del NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 912 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCTCTGTAGCTCCTCCTCCTCC 0.586 7 306 --- --- --- --- FRG1BP 284802 broad.mit.edu 37 20 29625899 29625900 + Frame_Shift_Ins INS - - AT TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr20:29625899_29625900insAT ENST00000278882.3 + 5 523_524 c.143_144insAT c.(142-144)atafs p.I48fs FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.I48fs|FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I53fs endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTATGGAAAATATCTTGGTA 0.342 7 121 --- --- --- --- SCARNA15 677778 broad.mit.edu 37 20 41933319 41933319 + RNA DEL A A - rs79619980 TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chr20:41933319delA ENST00000516384.1 + 0 125 TATCaatagcaaaaaaaaaaa 0.318 2 4 --- --- --- --- KANTR 102723508 broad.mit.edu 37 X 53142506 53142507 + RNA INS - - A rs146094031 TCGA-WB-A81Q-01A-11D-A35I-08 TCGA-WB-A81Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2be35d9d-a4ba-438f-b5b7-f6187fa78554 68f9891f-65a7-48ae-95c6-e807a953400b g.chrX:53142506_53142507insA ENST00000604849.1 + 0 96 AAAACACACACACAAAAAAAAA 0.356 4 6 --- --- --- ---