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 COL6A6 131873 broad.mit.edu 37 3 130284243 130284243 + Missense_Mutation SNP G G A TCGA-EL-A4K4-01A-11D-A257-08 TCGA-EL-A4K4-11A-21D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23d4113a-f9a3-4581-a160-6074c4ef4dfe 4a0d57bd-9de2-4474-b547-f24b85e050d1 g.chr3:130284243G>A ENST00000358511.6 + 3 1098 c.1067G>A c.(1066-1068)cGa>cAa p.R356Q COL6A6_ENST00000453409.2_Missense_Mutation_p.R356Q NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 356 Nonhelical region.|VWFA 2. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GTTAACCTCCGACGGGAGGGT 0.567000 56 66 0 0 1 0 0 FHDC1 85462 broad.mit.edu 37 4 153864423 153864423 + Missense_Mutation SNP A A C TCGA-EL-A4K4-01A-11D-A257-08 TCGA-EL-A4K4-11A-21D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23d4113a-f9a3-4581-a160-6074c4ef4dfe 4a0d57bd-9de2-4474-b547-f24b85e050d1 g.chr4:153864423A>C ENST00000511601.1 + 2 402 c.214A>C c.(214-216)Atc>Ctc p.I72L FHDC1_ENST00000260008.3_Missense_Mutation_p.I72L Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 72 actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) GGAGCCTCCCATCCCACCTCC 0.557000 9 25 0 0 1 0 0 EMILIN3 90187 broad.mit.edu 37 20 39991087 39991087 + Silent SNP C C T TCGA-EL-A4K4-01A-11D-A257-08 TCGA-EL-A4K4-11A-21D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23d4113a-f9a3-4581-a160-6074c4ef4dfe 4a0d57bd-9de2-4474-b547-f24b85e050d1 g.chr20:39991087C>T ENST00000332312.3 - 4 1314 c.1122G>A c.(1120-1122)caG>caA p.Q374Q NM_052846.1 NP_443078.1 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 374 proteinaceous extracellular matrix biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2) 30 Myeloproliferative disorder(115;0.00425) CGCTCAGGCCCTGCAGCTGGC 0.672000 3 21 0 0 1 0 0 ADO 84890 broad.mit.edu 37 10 64565221 64565221 + Missense_Mutation SNP C C A TCGA-EL-A4K4-01A-11D-A257-08 TCGA-EL-A4K4-11A-21D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23d4113a-f9a3-4581-a160-6074c4ef4dfe 4a0d57bd-9de2-4474-b547-f24b85e050d1 g.chr10:64565221C>A ENST00000373783.1 + 1 706 c.402C>A c.(400-402)gaC>gaA p.D134E RP11-436D10.3_ENST00000425290.1_RNA NM_032804.5 NP_116193.2 Q96SZ5 AEDO_HUMAN 2-aminoethanethiol (cysteamine) dioxygenase 134 cysteamine dioxygenase activity|metal ion binding lung(2) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) GCTGCATGGACAAGCTAGACG 0.716000 2 0 0.0784 0.0784 1 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A4K4-01A-11D-A257-08 TCGA-EL-A4K4-11A-21D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23d4113a-f9a3-4581-a160-6074c4ef4dfe 4a0d57bd-9de2-4474-b547-f24b85e050d1 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 14 39 0 0 1 0 0 ITCH 83737 broad.mit.edu 37 20 33057876 33057876 + Missense_Mutation SNP A A G TCGA-EL-A4K4-01A-11D-A257-08 TCGA-EL-A4K4-11A-21D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23d4113a-f9a3-4581-a160-6074c4ef4dfe 4a0d57bd-9de2-4474-b547-f24b85e050d1 g.chr20:33057876A>G ENST00000374864.4 + 15 1661 c.1448A>G c.(1447-1449)tAt>tGt p.Y483C ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Missense_Mutation_p.Y373C|ITCH_ENST00000262650.6_Missense_Mutation_p.Y524C NM_001257137.1|NM_001257138.1|NM_031483.5 NP_001244066.1|NP_001244067.1|NP_113671.3 Q96J02 ITCH_HUMAN itchy E3 ubiquitin protein ligase 524 WW 4. apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus cytosol|nucleus|plasma membrane CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1) 36 CAGATAGCCTATGTTCGGGAC 0.408000 49 103 0 0 1 0 0 HLA-DRB6 0 broad.mit.edu 37 6 32522495 32522495 + RNA SNP G G A TCGA-EL-A4K4-01A-11D-A257-08 TCGA-EL-A4K4-11A-21D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23d4113a-f9a3-4581-a160-6074c4ef4dfe 4a0d57bd-9de2-4474-b547-f24b85e050d1 g.chr6:32522495G>A ENST00000411500.1 - 0 711 NR_001298.1 GGCTCGTCACGCTTGGATGCT 0.527000 5 42 0 0 1 0 0 OR10H2 26538 broad.mit.edu 37 19 15839218 15839218 + Missense_Mutation SNP G G A rs145907157 TCGA-EL-A4K4-01A-11D-A257-08 TCGA-EL-A4K4-11A-21D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23d4113a-f9a3-4581-a160-6074c4ef4dfe 4a0d57bd-9de2-4474-b547-f24b85e050d1 g.chr19:15839218G>A ENST00000305899.3 + 1 385 c.365G>A c.(364-366)cGc>cAc p.R122H NM_013939.2 NP_039227.1 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, member 2 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1) 27 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) GGCTACGACCGCTACGTGGCC 0.647000 24 40 0 0 1 0 0 RP11-85G18.6 0 broad.mit.edu 37 10 27539266 27539266 + RNA SNP C C T TCGA-EL-A4K4-01A-11D-A257-08 TCGA-EL-A4K4-11A-21D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23d4113a-f9a3-4581-a160-6074c4ef4dfe 4a0d57bd-9de2-4474-b547-f24b85e050d1 g.chr10:27539266C>T ENST00000574842.1 + 0 535 LRRC37A6P_ENST00000284414.4_RNA TCCTGCTGGGCTGGAGAAGAT 0.567000 4 49 0 0 1 0 0 TRIM6 117854 broad.mit.edu 37 11 5624780 5624780 + Missense_Mutation SNP C C T rs61758093 TCGA-EL-A4K4-01A-11D-A257-08 TCGA-EL-A4K4-11A-21D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23d4113a-f9a3-4581-a160-6074c4ef4dfe 4a0d57bd-9de2-4474-b547-f24b85e050d1 g.chr11:5624780C>T ENST00000380097.3 + 2 564 c.322C>T c.(322-324)Cgg>Tgg p.R108W TRIM6_ENST00000380107.1_Missense_Mutation_p.R80W|TRIM6_ENST00000278302.5_Missense_Mutation_p.R80W|TRIM6_ENST00000515022.1_Intron|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.R108W|TRIM6_ENST00000506134.1_Intron|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000507320.1_Intron|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000445329.1_Intron NM_001003818.2|NM_001198644.1|NM_001198645.1 NP_001003818.1|NP_001185573.1|NP_001185574.1 tripartite motif containing 6 breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1) 22 Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212) Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192) CATAGTGAGGCGGCTCAGAGA 0.552000 10 43 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124827559 124827559 + Missense_Mutation SNP A A T TCGA-EL-A4K4-01A-11D-A257-08 TCGA-EL-A4K4-11A-21D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23d4113a-f9a3-4581-a160-6074c4ef4dfe 4a0d57bd-9de2-4474-b547-f24b85e050d1 g.chr12:124827559A>T ENST00000356219.3 - 34 5104 c.4949T>A c.(4948-4950)cTg>cAg p.L1650Q NCOR2_ENST00000429285.2_Missense_Mutation_p.L1633Q|NCOR2_ENST00000405201.1_Missense_Mutation_p.L1643Q|NCOR2_ENST00000404621.1_Missense_Mutation_p.L1633Q|NCOR2_ENST00000404121.2_Missense_Mutation_p.L1204Q|NCOR2_ENST00000397355.1_Missense_Mutation_p.L1634Q NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 1651 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) ACCTGCGTCCAGAGGGATGCC 0.637000 3 22 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49689975 49689975 + Missense_Mutation SNP C C T TCGA-EL-A4K4-01A-11D-A257-08 TCGA-EL-A4K4-11A-21D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23d4113a-f9a3-4581-a160-6074c4ef4dfe 4a0d57bd-9de2-4474-b547-f24b85e050d1 g.chr3:49689975C>T ENST00000296452.4 + 5 3100 c.2986C>T c.(2986-2988)Ccc>Tcc p.P996S NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 996 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GGGCACCTCTCCCACCTCTCT 0.647000 15 23 0 0 1 0 0 RP11-3P17.4 0 broad.mit.edu 37 3 161146872 161146873 + RNA DEL AT AT - TCGA-EL-A4K4-01A-11D-A257-08 TCGA-EL-A4K4-11A-21D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23d4113a-f9a3-4581-a160-6074c4ef4dfe 4a0d57bd-9de2-4474-b547-f24b85e050d1 g.chr3:161146872_161146873delAT ENST00000473595.1 + 0 1231 NR_102265.1 TGGTGAAAAGATATATATATAT 0.342 4 9 --- --- --- --- CTD-2547L16.1 0 broad.mit.edu 37 8 17946060 17946060 + RNA DEL T T - rs142591230 TCGA-EL-A4K4-01A-11D-A257-08 TCGA-EL-A4K4-11A-21D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23d4113a-f9a3-4581-a160-6074c4ef4dfe 4a0d57bd-9de2-4474-b547-f24b85e050d1 g.chr8:17946060delT ENST00000499554.2 + 0 483 CTD-2547L16.1_ENST00000521775.1_RNA GTGAACACTCttttttttttt 0.438 3 5 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118396277 118396277 + RNA DEL G G - rs148140777 by1000genomes TCGA-EL-A4K4-01A-11D-A257-08 TCGA-EL-A4K4-11A-21D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23d4113a-f9a3-4581-a160-6074c4ef4dfe 4a0d57bd-9de2-4474-b547-f24b85e050d1 g.chr10:118396277delG ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GACAAATTATGGTTTTTTTTT 0.423 2 4 --- --- --- --- HERC2P3 0 broad.mit.edu 37 15 20644940 20644941 + RNA INS - - A TCGA-EL-A4K4-01A-11D-A257-08 TCGA-EL-A4K4-11A-21D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23d4113a-f9a3-4581-a160-6074c4ef4dfe 4a0d57bd-9de2-4474-b547-f24b85e050d1 g.chr15:20644940_20644941insA ENST00000428453.1 - 0 3039 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 TGACAAGCATTAAAAAAAATCT 0.401 2 4 --- --- --- --- LACTB 114294 broad.mit.edu 37 15 63414116 63414116 + Frame_Shift_Del DEL G G - rs34925488 byFrequency TCGA-EL-A4K4-01A-11D-A257-08 TCGA-EL-A4K4-11A-21D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23d4113a-f9a3-4581-a160-6074c4ef4dfe 4a0d57bd-9de2-4474-b547-f24b85e050d1 g.chr15:63414116delG ENST00000413507.2 + 1 85 c.46delG c.(46-48)ggfs p.G17fs LACTB_ENST00000261893.4_Frame_Shift_Del_p.G17fs NM_171846.2 NP_741982.1 P83111 LACTB_HUMAN lactamase, beta 17 mitochondrion hydrolase activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1) 12 TGCCGCCCCCGGGGGCTTGGC 0.751 2 4 --- --- --- --- MSRB1 51734 broad.mit.edu 37 16 1993132 1993132 + Frame_Shift_Del DEL C C - TCGA-EL-A4K4-01A-11D-A257-08 TCGA-EL-A4K4-11A-21D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23d4113a-f9a3-4581-a160-6074c4ef4dfe 4a0d57bd-9de2-4474-b547-f24b85e050d1 g.chr16:1993132delC ENST00000361871.3 - 1 195 c.26delG c.(25-27)gcfs p.G9fs MSRB1_ENST00000399753.2_Frame_Shift_Del_p.G9fs|MSRB1_ENST00000564908.1_Frame_Shift_Del_p.G9fs NM_016332.2 NP_057416.1 Q9NZV6 MSRB1_HUMAN methionine sulfoxide reductase B1 9 protein repair cytoplasm|nucleus peptide-methionine-(S)-S-oxide reductase activity|zinc ion binding L-Methionine(DB00134) GAAAACCTCGCCCCCGAAGAA 0.697 2 4 --- --- --- --- CTD-2369P2.5 0 broad.mit.edu 37 19 10377497 10377498 + RNA INS - - T TCGA-EL-A4K4-01A-11D-A257-08 TCGA-EL-A4K4-11A-21D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23d4113a-f9a3-4581-a160-6074c4ef4dfe 4a0d57bd-9de2-4474-b547-f24b85e050d1 g.chr19:10377497_10377498insT ENST00000592893.1 - 0 141 TTCCATAGCCCTTTTTTTTTCC 0.426 2 4 --- --- --- ---