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 OTOA 146183 broad.mit.edu 37 16 21726416 21726416 + Silent SNP C C T TCGA-J8-A3O0-01A-11D-A21A-08 TCGA-J8-A3O0-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca22d305-a5d7-4e5a-acfd-dce09605603f f079ecfe-3c20-4338-9e12-408dab097c66 g.chr16:21726416C>T ENST00000388958.3 + 13 1432 c.1431C>T c.(1429-1431)gcC>gcT p.A477A OTOA_ENST00000388957.3_Silent_p.A153A|OTOA_ENST00000388956.4_Silent_p.A398A|OTOA_ENST00000286149.4_Silent_p.A491A NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 491 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) TGAGAAGTGCCGTCTCCCAGT 0.577000 8 355 0 0 0.013537 0 0 FN1 2335 broad.mit.edu 37 2 216285470 216285470 + Missense_Mutation SNP C C G rs142165052 TCGA-J8-A3O0-01A-11D-A21A-08 TCGA-J8-A3O0-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca22d305-a5d7-4e5a-acfd-dce09605603f f079ecfe-3c20-4338-9e12-408dab097c66 g.chr2:216285470C>G ENST00000354785.4 - 11 1970 c.1601G>C c.(1600-1602)cGt>cCt p.R534P FN1_ENST00000446046.1_Missense_Mutation_p.R534P|FN1_ENST00000443816.1_Missense_Mutation_p.R534P|FN1_ENST00000432072.2_Missense_Mutation_p.R534P|FN1_ENST00000359671.1_Missense_Mutation_p.R534P|FN1_ENST00000357867.4_Missense_Mutation_p.R534P|FN1_ENST00000357009.2_Missense_Mutation_p.R534P|FN1_ENST00000356005.4_Missense_Mutation_p.R534P|FN1_ENST00000346544.3_Missense_Mutation_p.R534P|FN1_ENST00000345488.5_Missense_Mutation_p.R534P|FN1_ENST00000336916.4_Missense_Mutation_p.R534P|FN1_ENST00000323926.6_Missense_Mutation_p.R534P|FN1_ENST00000421182.1_Missense_Mutation_p.R534P|FN1_ENST00000426059.1_Missense_Mutation_p.R534P P02751 FINC_HUMAN fibronectin 1 534 Collagen-binding.|Fibronectin type-I 8. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTCTTCATGACGCTTGTGGAA 0.478000 23 46 0 0 0.005443 0 0 SLC43A2 124935 broad.mit.edu 37 17 1479938 1479938 + Missense_Mutation SNP G G A TCGA-J8-A3O0-01A-11D-A21A-08 TCGA-J8-A3O0-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca22d305-a5d7-4e5a-acfd-dce09605603f f079ecfe-3c20-4338-9e12-408dab097c66 g.chr17:1479938G>A ENST00000571650.1 - 14 1819 c.1513C>T c.(1513-1515)Ccg>Tcg p.P505S SLC43A2_ENST00000382147.4_Missense_Mutation_p.P505S|SLC43A2_ENST00000301335.4_Missense_Mutation_p.P501S|SLC43A2_ENST00000412517.3_Missense_Mutation_p.P364S Q8N370 LAT4_HUMAN solute carrier family 43 (amino acid system L transporter), member 2 501 cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (25;0.0883) AGAAACAGCGGCTGCTGCAGA 0.642000 3 59 0 0 0.009096 0 0 UBBP4 0 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-J8-A3O0-01A-11D-A21A-08 TCGA-J8-A3O0-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca22d305-a5d7-4e5a-acfd-dce09605603f f079ecfe-3c20-4338-9e12-408dab097c66 g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 4 79 0 0 0.009096 0 0 SERTAD3 29946 broad.mit.edu 37 19 40947564 40947564 + Missense_Mutation SNP A A C TCGA-J8-A3O0-01A-11D-A21A-08 TCGA-J8-A3O0-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca22d305-a5d7-4e5a-acfd-dce09605603f f079ecfe-3c20-4338-9e12-408dab097c66 g.chr19:40947564A>C ENST00000322354.3 - 2 920 c.424T>G c.(424-426)Ttg>Gtg p.L142V SERTAD3_ENST00000392028.4_Missense_Mutation_p.L142V NM_203344.2 NP_976219.1 Q9UJW9 SRTD3_HUMAN SERTA domain containing 3 142 negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding kidney(1)|large_intestine(4)|lung(2) 7 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GAGTCCCCCAAGTACCGGGAG 0.572000 27 44 0 0 0.010818 0 0 SETD6 79918 broad.mit.edu 37 16 58549787 58549787 + Silent SNP G G A TCGA-J8-A3O0-01A-11D-A21A-08 TCGA-J8-A3O0-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca22d305-a5d7-4e5a-acfd-dce09605603f f079ecfe-3c20-4338-9e12-408dab097c66 g.chr16:58549787G>A ENST00000219315.4 + 2 170 c.120G>A c.(118-120)gtG>gtA p.V40V SETD6_ENST00000394266.4_Intron|SETD6_ENST00000310682.2_Intron|SETD6_ENST00000418480.1_Intron Q8TBK2 SETD6_HUMAN SET domain containing 6 40 SET. negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response nucleus NF-kappaB binding|protein-lysine N-methyltransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 7 GTCCCAAGGTGAGCGAGCGAg 0.756000 4 13 0 0 0.009096 0 0 DNAJC11 55735 broad.mit.edu 37 1 6696245 6696245 + Missense_Mutation SNP T T C TCGA-J8-A3O0-01A-11D-A21A-08 TCGA-J8-A3O0-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca22d305-a5d7-4e5a-acfd-dce09605603f f079ecfe-3c20-4338-9e12-408dab097c66 g.chr1:6696245T>C ENST00000377577.5 - 15 1709 c.1586A>G c.(1585-1587)tAt>tGt p.Y529C DNAJC11_ENST00000377573.5_Missense_Mutation_p.Y439C|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000294401.7_Missense_Mutation_p.Y477C|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000542246.1_Missense_Mutation_p.Y491C NM_018198.3 NP_060668.2 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 529 protein folding heat shock protein binding|unfolded protein binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1) 32 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) CCGGAACTGATAGAGCACTTT 0.547000 22 55 0 0 0.016522 0 0 SAAL1 113174 broad.mit.edu 37 11 18111042 18111042 + Missense_Mutation SNP T T G TCGA-J8-A3O0-01A-11D-A21A-08 TCGA-J8-A3O0-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca22d305-a5d7-4e5a-acfd-dce09605603f f079ecfe-3c20-4338-9e12-408dab097c66 g.chr11:18111042T>G ENST00000524803.1 - 7 654 c.605A>C c.(604-606)aAg>aCg p.K202T SAAL1_ENST00000529318.1_Missense_Mutation_p.K202T|SAAL1_ENST00000300013.4_Missense_Mutation_p.K202T|SAAL1_ENST00000533851.1_5'UTR Q96ER3 SAAL1_HUMAN serum amyloid A-like 1 202 acute-phase response extracellular region binding breast(2)|large_intestine(5)|lung(8) 15 CTCCCCCACCTTCACCAGCAA 0.418000 11 29 0 0 0.010729 0 0 FANCD2 2177 broad.mit.edu 37 3 10106101 10106101 + Missense_Mutation SNP T T C TCGA-J8-A3O0-01A-11D-A21A-08 TCGA-J8-A3O0-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca22d305-a5d7-4e5a-acfd-dce09605603f f079ecfe-3c20-4338-9e12-408dab097c66 g.chr3:10106101T>C ENST00000287647.3 + 22 2102 c.2009T>C c.(2008-2010)gTt>gCt p.V670A FANCD2_ENST00000383806.1_Missense_Mutation_p.V670A|FANCD2_ENST00000383807.1_Missense_Mutation_p.V670A|FANCD2_ENST00000419585.1_Missense_Mutation_p.V670A NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 670 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) GACTCCTGTGTTGTTCCGGAA 0.458000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 28 68 0 0 0.014410 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587657 43587657 + RNA SNP C C T rs148404065 by1000genomes TCGA-J8-A3O0-01A-11D-A21A-08 TCGA-J8-A3O0-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca22d305-a5d7-4e5a-acfd-dce09605603f f079ecfe-3c20-4338-9e12-408dab097c66 g.chr17:43587657C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GGTGACAACACATCTGTTTTA 0.323000 3 21 0 0 0.004672 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-J8-A3O0-01A-11D-A21A-08 TCGA-J8-A3O0-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca22d305-a5d7-4e5a-acfd-dce09605603f f079ecfe-3c20-4338-9e12-408dab097c66 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 62 78 0 0 0.014410 0 0 HEXA 3073 broad.mit.edu 37 15 72640388 72640388 + Splice_Site SNP C C T rs76173977 byFrequency TCGA-J8-A3O0-01A-11D-A21A-08 TCGA-J8-A3O0-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca22d305-a5d7-4e5a-acfd-dce09605603f f079ecfe-3c20-4338-9e12-408dab097c66 g.chr15:72640388C>T ENST00000268097.5 - 9 1577 c.e9+1 HEXA_ENST00000429918.2_Splice_Site|RP11-106M3.3_ENST00000570175.1_RNA|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000457859.2_Splice_Site|HEXA_ENST00000567159.1_Splice_Site|HEXA_ENST00000566304.1_Splice_Site NM_000520.4 NP_000511.2 P06865 HEXA_HUMAN hexosaminidase A (alpha polypeptide) cell death lysosome beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 24 TCCTTCCTCACGTCTGGATGT 0.577000 8 22 0 0 0.006214 0 0 NKRF 55922 broad.mit.edu 37 X 118724002 118724002 + Silent SNP G G A TCGA-J8-A3O0-01A-11D-A21A-08 TCGA-J8-A3O0-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca22d305-a5d7-4e5a-acfd-dce09605603f f079ecfe-3c20-4338-9e12-408dab097c66 g.chrX:118724002G>A ENST00000371527.1 - 2 2038 c.1386C>T c.(1384-1386)aaC>aaT p.N462N NKRF_ENST00000542113.1_Silent_p.N477N|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Silent_p.N462N NM_001173488.1 NP_001166959.1 O15226 NKRF_HUMAN NFKB repressing factor 462 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|double-stranded RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 30 CTGTCATTCGGTTAAACTGAG 0.433000 3 32 0 0 0.004672 0 0 LTBP3 4054 broad.mit.edu 37 11 65319868 65319868 + Missense_Mutation SNP G G A TCGA-J8-A3O0-01A-11D-A21A-08 TCGA-J8-A3O0-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca22d305-a5d7-4e5a-acfd-dce09605603f f079ecfe-3c20-4338-9e12-408dab097c66 g.chr11:65319868G>A ENST00000301873.5 - 7 1464 c.1196C>T c.(1195-1197)cCg>cTg p.P399L LTBP3_ENST00000536982.1_Missense_Mutation_p.P25L|LTBP3_ENST00000322147.4_Missense_Mutation_p.P399L NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 399 extracellular region calcium ion binding|growth factor binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 CTTCTCCTCCGGTTTGTCTGC 0.667000 OREG0021081 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 43 68 0 0 0.014410 0 0 BMP3 651 broad.mit.edu 37 4 81952594 81952594 + Silent SNP G G A TCGA-J8-A3O0-01A-11D-A21A-08 TCGA-J8-A3O0-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca22d305-a5d7-4e5a-acfd-dce09605603f f079ecfe-3c20-4338-9e12-408dab097c66 g.chr4:81952594G>A ENST00000282701.2 + 1 476 c.156G>A c.(154-156)ccG>ccA p.P52P NM_001201.2 NP_001192.2 P12645 BMP3_HUMAN bone morphogenetic protein 3 52 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 AGCTGCAGCCGCAAGACAAGG 0.672000 3 44 0 0 0.014758 0 0 NBPF14 25832 broad.mit.edu 37 1 148012561 148012562 + Frame_Shift_Del DEL AT AT - TCGA-J8-A3O0-01A-11D-A21A-08 TCGA-J8-A3O0-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca22d305-a5d7-4e5a-acfd-dce09605603f f079ecfe-3c20-4338-9e12-408dab097c66 g.chr1:148012561_148012562delAT ENST00000369219.1 - 12 1413_1414 c.1397_1398delAT c.(1396-1398)tfs p.Y466fs Q5TI25 NBPFE_HUMAN neuroblastoma breakpoint family, member 14 466 NBPF 5. cytoplasm NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) AGGAACTTCCATAGGGCTGGCA 0.470 2 4 --- --- --- --- GOLGB1 2804 broad.mit.edu 37 3 121410314 121410316 + In_Frame_Del DEL CTA CTA - TCGA-J8-A3O0-01A-11D-A21A-08 TCGA-J8-A3O0-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca22d305-a5d7-4e5a-acfd-dce09605603f f079ecfe-3c20-4338-9e12-408dab097c66 g.chr3:121410314_121410316delCTA ENST00000393667.3 - 14 8005_8007 c.7895_7897delTAG c.(7894-7899)tga>t p.LG2632del GOLGB1_ENST00000340645.5_In_Frame_Del_p.LG2627del NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 2627 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) TGATAGAGTCCTAAAGTACCTTC 0.369 9 25 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102743846 102743847 + RNA INS - - A TCGA-J8-A3O0-01A-11D-A21A-08 TCGA-J8-A3O0-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca22d305-a5d7-4e5a-acfd-dce09605603f f079ecfe-3c20-4338-9e12-408dab097c66 g.chr11:102743846_102743847insA ENST00000532855.1 - 0 199 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) AGTATCTCTGGAAAAAAAAATA 0.332 2 4 --- --- --- --- PPTC7 160760 broad.mit.edu 37 12 111020740 111020742 + In_Frame_Del DEL CGC CGC - TCGA-J8-A3O0-01A-11D-A21A-08 TCGA-J8-A3O0-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca22d305-a5d7-4e5a-acfd-dce09605603f f079ecfe-3c20-4338-9e12-408dab097c66 g.chr12:111020740_111020742delCGC ENST00000354300.3 - 1 383_385 c.95_97delGCG c.(94-99)gac>g p.GD32del NM_139283.1 NP_644812.1 Q8NI37 PPTC7_HUMAN PTC7 protein phosphatase homolog (S. cerevisiae) 32 Gly-rich. metal ion binding|phosphoprotein phosphatase activity endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 9 AGTCCGTAGTcgccgccgccgcc 0.739 3 6 --- --- --- --- SLC26A11 284129 broad.mit.edu 37 17 78201649 78201651 + In_Frame_Del DEL TGC TGC - TCGA-J8-A3O0-01A-11D-A21A-08 TCGA-J8-A3O0-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca22d305-a5d7-4e5a-acfd-dce09605603f f079ecfe-3c20-4338-9e12-408dab097c66 g.chr17:78201649_78201651delTGC ENST00000361193.3 + 7 906_908 c.626_628delTGC c.(625-630)atg>a p.ML209del SLC26A11_ENST00000546047.2_In_Frame_Del_p.ML209del|SLC26A11_ENST00000411502.3_In_Frame_Del_p.ML209del|SLC26A11_ENST00000572725.1_In_Frame_Del_p.ML209del NM_001166347.1|NM_173626.3 NP_001159819.1|NP_775897.3 Q86WA9 S2611_HUMAN solute carrier family 26 (anion exchanger), member 11 209 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CTGGTCTGCATGCTGCTGCTGCT 0.675 9 382 --- --- --- --- EPS8L1 54869 broad.mit.edu 37 19 55593835 55593836 + Frame_Shift_Ins INS - - G TCGA-J8-A3O0-01A-11D-A21A-08 TCGA-J8-A3O0-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca22d305-a5d7-4e5a-acfd-dce09605603f f079ecfe-3c20-4338-9e12-408dab097c66 g.chr19:55593835_55593836insG ENST00000201647.6 + 12 1135_1136 c.1079_1080insG c.(1078-1080)tggfs p.W360fs EPS8L1_ENST00000588359.1_Intron|EPS8L1_ENST00000245618.5_Frame_Shift_Ins_p.W233fs|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000586329.1_Frame_Shift_Ins_p.W342fs|EPS8L1_ENST00000540810.1_Frame_Shift_Ins_p.W296fs NM_133180.2 NP_573441.2 Q8TE68 ES8L1_HUMAN EPS8-like 1 360 cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) GTGAACACGTCGGGGGGGCCGG 0.663 7 181 --- --- --- ---