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 PTGS1 5742 broad.mit.edu 37 9 125145882 125145882 + Missense_Mutation SNP T T C TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chr9:125145882T>C ENST00000362012.2 + 8 862 c.857T>C c.(856-858)gTg>gCg p.V286A PTGS1_ENST00000373698.5_Missense_Mutation_p.V177A|PTGS1_ENST00000540753.1_Missense_Mutation_p.V261A|PTGS1_ENST00000223423.4_Missense_Mutation_p.V286A NM_000962.2|NM_001271164.1|NM_080591.1 NP_000953.2|NP_001258093.1|NP_542158.1 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 286 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) CAGATGGCTGTGGGCCAGGAG 0.617000 21 40 0 0 1 0 0 HEATR2 54919 broad.mit.edu 37 7 803452 803452 + Missense_Mutation SNP A A G TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chr7:803452A>G ENST00000297440.6 + 8 1644 c.1624A>G c.(1624-1626)Acg>Gcg p.T542A HEATR2_ENST00000313147.5_Missense_Mutation_p.T542A NM_017802.3 NP_060272.3 Q86Y56 HEAT2_HUMAN HEAT repeat containing 2 542 protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1) 22 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) GGCACAGGAGACGATGGACTC 0.607000 33 55 0 0 1 0 0 SERPINB2 5055 broad.mit.edu 37 18 61565020 61565020 + Silent SNP A A G TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chr18:61565020A>G ENST00000457692.1 + 6 810 c.477A>G c.(475-477)ctA>ctG p.L159L SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000299502.4_Silent_p.L159L NM_001143818.1 NP_001137290.1 P05120 PAI2_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 2 159 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) TAGACTTCCTAGAATGTGCAG 0.338000 33 59 0 0 1 0 0 FBXO32 114907 broad.mit.edu 37 8 124526522 124526522 + Missense_Mutation SNP G G C TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chr8:124526522G>C ENST00000517956.1 - 5 615 c.424C>G c.(424-426)Caa>Gaa p.Q142E FBXO32_ENST00000443022.2_Intron NM_058229.3|NM_148177.2 NP_478136.1|NP_680482.1 Q969P5 FBX32_HUMAN F-box protein 32 142 autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1) 21 Lung NSC(37;1.13e-13)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) AAGTTCTTTTGGGCGATGCCA 0.443000 9 20 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79267432 79267432 + Missense_Mutation SNP C C T TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chr9:79267432C>T ENST00000428286.1 - 11 8647 c.7447G>A c.(7447-7449)Gat>Aat p.D2483N PRUNE2_ENST00000443509.2_Missense_Mutation_p.D91N|PRUNE2_ENST00000223609.6_Missense_Mutation_p.D106N|PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000376718.3_Missense_Mutation_p.D2842N Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2842 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TCTGCTTCATCGGGGGTATCA 0.393000 8 173 0 0 1 0 0 SLC17A1 6568 broad.mit.edu 37 6 25799051 25799051 + Missense_Mutation SNP G G T TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chr6:25799051G>T ENST00000244527.4 - 12 1481 c.1366C>A c.(1366-1368)Cag>Aag p.Q456K SLC17A1_ENST00000427328.1_Missense_Mutation_p.Q402K|SLC17A1_ENST00000468082.1_Missense_Mutation_p.Q402K|SLC17A1_ENST00000476801.1_Missense_Mutation_p.Q456K NM_005074.3 NP_005065.2 Q14916 NPT1_HUMAN solute carrier family 17 (organic anion transporter), member 1 456 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 36 GCCCAGTCCTGAATTTCTGCT 0.428000 4 83 0.014758 0.014758 1 1 0 POM121L9P 29774 broad.mit.edu 37 22 24659591 24659591 + RNA SNP A A G TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chr22:24659591A>G ENST00000414583.2 + 0 3116 NR_003714.1 ACTCACTGACATCGAAGGCTG 0.632000 3 16 0 0 1 0 0 ZEB1 6935 broad.mit.edu 37 10 31812941 31812941 + Missense_Mutation SNP G G T TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chr10:31812941G>T ENST00000446923.2 + 8 3025 c.2634G>T c.(2632-2634)aaG>aaT p.K878N ZEB1_ENST00000361642.5_Missense_Mutation_p.K895N|ZEB1_ENST00000320985.10_Missense_Mutation_p.K894N|ZEB1_ENST00000542815.3_Missense_Mutation_p.K827N|ZEB1_ENST00000560721.2_Missense_Mutation_p.K874N NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 894 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) CGCCCAAAAAGAAAATGCGGA 0.378000 12 108 1.08611e-07 1.22187e-07 1 1 0 LAMA4 3910 broad.mit.edu 37 6 112522827 112522827 + Missense_Mutation SNP G G A TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chr6:112522827G>A ENST00000230538.7 - 5 882 c.485C>T c.(484-486)gCt>gTt p.A162V LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V|LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 162 Laminin EGF-like 2. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) GTTAGGTCCAGCATAATTTTC 0.388000 5 329 0 0 1 0 0 KAL1 3730 broad.mit.edu 37 X 8536370 8536370 + Silent SNP A A G TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chrX:8536370A>G ENST00000262648.3 - 8 1259 c.1110T>C c.(1108-1110)taT>taC p.Y370Y NM_000216.2 NP_000207.2 P23352 KALM_HUMAN Kallmann syndrome 1 sequence 370 Fibronectin type-III 2. axon guidance|cell adhesion|cellular component movement extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1) 32 ATTCCACAACATAGTCACAGT 0.443000 4 48 0 0 1 0 0 TOR1A 1861 broad.mit.edu 37 9 132576411 132576411 + Missense_Mutation SNP C C A TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chr9:132576411C>A ENST00000351698.4 - 5 887 c.839G>T c.(838-840)tGt>tTt p.C280F NM_000113.2 NP_000104.1 O14656 TOR1A_HUMAN torsin family 1, member A (torsin A) 280 chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen|nuclear membrane ATP binding|serine-type endopeptidase activity|unfolded protein binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Ovarian(14;0.00556) CACTCGGATACACATTTTTAG 0.453000 4 173 3.59834e-05 3.73673e-05 1 1 0 ABCC10 89845 broad.mit.edu 37 6 43415432 43415432 + Missense_Mutation SNP G G A TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chr6:43415432G>A ENST00000244533.3 + 16 3991 c.3632G>A c.(3631-3633)gGc>gAc p.G1211D ABCC10_ENST00000372530.4_Missense_Mutation_p.G1239D NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 1239 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CTGGGCACCGGCTGGCTGACC 0.632000 6 308 0 0 1 0 0 KIAA0141 9812 broad.mit.edu 37 5 141309157 141309157 + Silent SNP A A G TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chr5:141309157A>G ENST00000432126.2 + 5 557 c.423A>G c.(421-423)caA>caG p.Q141Q KIAA0141_ENST00000194118.4_Silent_p.Q141Q NM_001142603.1|NM_014773.3 NP_001136075.1|NP_055588.3 Q14154 DELE_HUMAN KIAA0141 141 apoptosis|regulation of caspase activity mitochondrion protein binding endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3) 16 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACTGCGACAACACATCCTCC 0.632000 4 60 0 0 1 0 0 APEH 327 broad.mit.edu 37 3 49717042 49717042 + Missense_Mutation SNP A A G TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chr3:49717042A>G ENST00000296456.5 + 13 1575 c.1175A>G c.(1174-1176)gAc>gGc p.D392G APEH_ENST00000438011.1_Missense_Mutation_p.D392G NM_001640.3 NP_001631.3 P13798 ACPH_HUMAN acylaminoacyl-peptide hydrolase 392 proteolysis cytoplasm|nuclear membrane serine-type endopeptidase activity endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TTTGCTGTGGACACCCAAGTG 0.612000 3 59 0 0 1 0 0 PLCL1 5334 broad.mit.edu 37 2 198948751 198948751 + Silent SNP A A G TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chr2:198948751A>G ENST00000428675.1 + 2 908 c.510A>G c.(508-510)aaA>aaG p.K170K PLCL1_ENST00000437704.2_Silent_p.K72K NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 170 Interaction with PPP1C.|PH. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) GACTGGGGAAAAACACGGAAA 0.463000 5 65 0 0 1 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 3 42 0 0 1 0 0 RGS12 6002 broad.mit.edu 37 4 3441319 3441319 + Frame_Shift_Del DEL G G - TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chr4:3441319delG ENST00000344733.5 + 18 5156 c.4252delG c.(4252-4254)ggfs p.G1418fs RGS12_ENST00000338806.4_Frame_Shift_Del_p.G770fs NM_198229.2 NP_937872.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 1418 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GGCCAGTGGTGGGCCTCCTAC 0.667 7 20 --- --- --- --- MBLAC2 153364 broad.mit.edu 37 5 89770075 89770076 + Frame_Shift_Del DEL AG AG - TCGA-QR-A705-01A-11D-A35D-08 TCGA-QR-A705-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01fb89f0-23bc-42fe-9089-cff2328a7366 e97ed982-0b79-4019-b01c-3fad7dd97944 g.chr5:89770075_89770076delAG ENST00000316610.6 - 1 509_510 c.34_35delCT c.(34-36)afs p.L12fs MBLAC2_ENST00000514906.1_Frame_Shift_Del_p.L12fs NM_203406.1 NP_981951.1 Q68D91 MBLC2_HUMAN metallo-beta-lactamase domain containing 2 12 hydrolase activity|metal ion binding kidney(1)|liver(1)|lung(3) 5 ACCATCGCCTAGAGACTTGTGG 0.619 9 23 --- --- --- ---