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 KLK13 26085 broad.mit.edu 37 19 51563781 51563781 + Nonsense_Mutation SNP G G A TCGA-WB-A822-01A-11D-A35I-08 TCGA-WB-A822-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af00a03-2099-4f52-ac2d-c6b82868f847 866f46fc-d2fe-4bd8-a62f-a46016f1fb9c g.chr19:51563781G>A ENST00000595793.1 - 2 190 c.148C>T c.(148-150)Cag>Tag p.Q50* KLK13_ENST00000596955.1_Nonsense_Mutation_p.Q50*|KLK13_ENST00000335422.3_Intron|KLK13_ENST00000595547.1_Nonsense_Mutation_p.Q50* NM_015596.1 NP_056411.1 Q9UKR3 KLK13_HUMAN kallikrein-related peptidase 13 50 Peptidase S1. proteolysis protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1) 16 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432) AGGGCAGCCTGCCAGGGCTGA 0.597000 4 57 0 0 1 0 0 RP11-252A24.2 0 broad.mit.edu 37 16 74372357 74372357 + RNA SNP C C T rs116311018 by1000genomes TCGA-WB-A822-01A-11D-A35I-08 TCGA-WB-A822-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af00a03-2099-4f52-ac2d-c6b82868f847 866f46fc-d2fe-4bd8-a62f-a46016f1fb9c g.chr16:74372357C>T ENST00000429810.2 - 0 1839 ATCTCAAACTCTGTGAAAGAG 0.368000 3 29 0 0 1 0 0 IGHD 3495 broad.mit.edu 37 14 106311819 106311819 + RNA SNP T T C TCGA-WB-A822-01A-11D-A35I-08 TCGA-WB-A822-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af00a03-2099-4f52-ac2d-c6b82868f847 866f46fc-d2fe-4bd8-a62f-a46016f1fb9c g.chr14:106311819T>C ENST00000390556.2 - 0 191 CTGCTTGTCATGTAGTAGCTG 0.577000 13 40 0 0 1 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20868177 20868177 + Silent SNP C C T TCGA-WB-A822-01A-11D-A35I-08 TCGA-WB-A822-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af00a03-2099-4f52-ac2d-c6b82868f847 866f46fc-d2fe-4bd8-a62f-a46016f1fb9c g.chr12:20868177C>T ENST00000381552.1 + 6 1002 c.634C>T c.(634-636)Ctg>Ttg p.L212L SLCO1C1_ENST00000545604.1_Silent_p.L212L|SLCO1C1_ENST00000266509.2_Silent_p.L212L|SLCO1C1_ENST00000540354.1_Intron|SLCO1C1_ENST00000545102.1_Silent_p.L94L Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 212 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) CATTGCCTACCTGGATGATTT 0.428000 4 76 0 0 1 0 0 PXDN 7837 broad.mit.edu 37 2 1652159 1652159 + Silent SNP G G A TCGA-WB-A822-01A-11D-A35I-08 TCGA-WB-A822-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af00a03-2099-4f52-ac2d-c6b82868f847 866f46fc-d2fe-4bd8-a62f-a46016f1fb9c g.chr2:1652159G>A ENST00000252804.4 - 17 3443 c.3393C>T c.(3391-3393)ccC>ccT p.P1131P NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 1131 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) GCAGCTGCGAGGGCACACGCA 0.627000 14 22 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145293269 145293269 + Splice_Site SNP G G A rs61350760 by1000genomes TCGA-WB-A822-01A-11D-A35I-08 TCGA-WB-A822-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af00a03-2099-4f52-ac2d-c6b82868f847 866f46fc-d2fe-4bd8-a62f-a46016f1fb9c g.chr1:145293269G>A ENST00000369338.1 + 1 155 c.e1+1 RP11-458D21.5_ENST00000468030.1_Splice_Site|NBPF10_ENST00000369339.2_Intron A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TTTCACAACAGTAAGTTAAGA 0.423000 6 44 0 0 1 0 0 GYPE 2996 broad.mit.edu 37 4 144826671 144826671 + Translation_Start_Site SNP C C T TCGA-WB-A822-01A-11D-A35I-08 TCGA-WB-A822-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af00a03-2099-4f52-ac2d-c6b82868f847 866f46fc-d2fe-4bd8-a62f-a46016f1fb9c g.chr4:144826671C>T ENST00000358615.4 - 0 41 GYPE_ENST00000437468.2_De_novo_Start_OutOfFrame NM_198682.2 NP_941391.2 P15421 GLPE_HUMAN glycophorin E (MNS blood group) integral to plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 all_hematologic(180;0.158) CCTGAGATCACGAGCTGGCTC 0.398000 6 46 0 0 1 0 0 NPIPB5 100132247 broad.mit.edu 37 16 22545865 22545865 + Missense_Mutation SNP G G C rs147500263 by1000genomes TCGA-WB-A822-01A-11D-A35I-08 TCGA-WB-A822-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af00a03-2099-4f52-ac2d-c6b82868f847 866f46fc-d2fe-4bd8-a62f-a46016f1fb9c g.chr16:22545865G>C ENST00000424340.1 + 7 1840 c.1561G>C c.(1561-1563)Gcc>Ccc p.A521P NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Missense_Mutation_p.A521P NM_001135865.1 NP_001129337.1 nuclear pore complex interacting protein family, member B5 TCAGCTCACTGCCCTTCCACC 0.567000 11 240 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94067098 94067098 + Missense_Mutation SNP G G A TCGA-WB-A822-01A-11D-A35I-08 TCGA-WB-A822-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af00a03-2099-4f52-ac2d-c6b82868f847 866f46fc-d2fe-4bd8-a62f-a46016f1fb9c g.chr14:94067098G>A ENST00000553484.1 + 25 3710 c.3556G>A c.(3556-3558)Gaa>Aaa p.E1186K UNC79_ENST00000393151.2_Missense_Mutation_p.E1186K|UNC79_ENST00000555664.1_Missense_Mutation_p.E1186K|UNC79_ENST00000256339.4_Missense_Mutation_p.E1009K Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1186 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TTGTAACAAGGAATTTCCTTT 0.413000 4 56 0 0 1 0 0 ANO5 203859 broad.mit.edu 37 11 22296294 22296294 + Splice_Site SNP G G C TCGA-WB-A822-01A-11D-A35I-08 TCGA-WB-A822-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af00a03-2099-4f52-ac2d-c6b82868f847 866f46fc-d2fe-4bd8-a62f-a46016f1fb9c g.chr11:22296294G>C ENST00000324559.8 + 20 2731 c.e20+1 ANO5_ENST00000532043.1_Splice_Site NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TCACTTGCAGGTGATTTGTTT 0.343000 3 43 0 0 1 0 0 ARHGEF26 26084 broad.mit.edu 37 3 153839931 153839931 + Frame_Shift_Del DEL T T - TCGA-WB-A822-01A-11D-A35I-08 TCGA-WB-A822-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af00a03-2099-4f52-ac2d-c6b82868f847 866f46fc-d2fe-4bd8-a62f-a46016f1fb9c g.chr3:153839931delT ENST00000356448.4 + 2 434 c.150delT c.(148-150)gafs p.D50fs ARHGEF26_ENST00000465817.1_Frame_Shift_Del_p.D50fs|ARHGEF26_ENST00000465093.1_Frame_Shift_Del_p.D50fs NM_001251962.1 NP_001238891.1 Q96DR7 ARHGQ_HUMAN Rho guanine nucleotide exchange factor (GEF) 26 50 regulation of Rho protein signal transduction intracellular|ruffle Rho guanyl-nucleotide exchange factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 23 TAATTACGGATTTCCCGGTGG 0.662 2 4 --- --- --- --- KCNH3 23416 broad.mit.edu 37 12 49937738 49937740 + In_Frame_Del DEL GGG GGG - TCGA-WB-A822-01A-11D-A35I-08 TCGA-WB-A822-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af00a03-2099-4f52-ac2d-c6b82868f847 866f46fc-d2fe-4bd8-a62f-a46016f1fb9c g.chr12:49937738_49937740delGGG ENST00000257981.6 + 6 1124_1126 c.864_866delGGG c.(862-867)tcc>tc p.SG288del NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 288 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 TGTCCAAGTCGGGCCAGGTGGTG 0.596 11 56 --- --- --- --- GOLGA6D 653643 broad.mit.edu 37 15 75585440 75585442 + In_Frame_Del DEL GAG GAG - TCGA-WB-A822-01A-11D-A35I-08 TCGA-WB-A822-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af00a03-2099-4f52-ac2d-c6b82868f847 866f46fc-d2fe-4bd8-a62f-a46016f1fb9c g.chr15:75585440_75585442delGAG ENST00000434739.3 + 14 1569_1571 c.1528_1530delGAG c.(1528-1530)del p.E513del NM_001145224.1 NP_001138696.1 P0CG33 GOG6D_HUMAN golgin A6 family, member D 513 kidney(1)|lung(1) 2 TCTGGACAGTGAGGAGGAGGAGG 0.631 2 4 --- --- --- --- PYY2 23615 broad.mit.edu 37 17 26554700 26554700 + RNA DEL C C - TCGA-WB-A822-01A-11D-A35I-08 TCGA-WB-A822-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af00a03-2099-4f52-ac2d-c6b82868f847 866f46fc-d2fe-4bd8-a62f-a46016f1fb9c g.chr17:26554700delC ENST00000441253.2 + 0 685 NR_003064.2 GCGAGGACCGCCTCGGCAGGT 0.647 2 4 --- --- --- --- LIG1 3978 broad.mit.edu 37 19 48639327 48639327 + Frame_Shift_Del DEL G G - TCGA-WB-A822-01A-11D-A35I-08 TCGA-WB-A822-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af00a03-2099-4f52-ac2d-c6b82868f847 866f46fc-d2fe-4bd8-a62f-a46016f1fb9c g.chr19:48639327delG ENST00000263274.7 - 15 1806 c.1387delC c.(1387-1389)tcfs p.L463fs LIG1_ENST00000427526.2_Frame_Shift_Del_p.L432fs|LIG1_ENST00000536218.1_Frame_Shift_Del_p.L395fs NM_000234.1 NP_000225.1 P18858 DNLI1_HUMAN ligase I, DNA, ATP-dependent 463 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) GCCTGGGAGAGGGCAGCCAGC 0.692 Nucleotide excision repair (NER) 2 4 --- --- --- ---