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 EPN1 29924 broad.mit.edu 37 19 56206611 56206611 + Silent SNP C C T TCGA-ET-A40R-01A-11D-A23M-08 TCGA-ET-A40R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa48b79b-4172-4fce-852d-69130744fa7a e91a247a-8cd1-48a3-8e7e-8a12644402ab g.chr19:56206611C>T ENST00000411543.2 + 11 2425 c.1878C>T c.(1876-1878)ccC>ccT p.P626P EPN1_ENST00000085079.7_Silent_p.P514P|EPN1_ENST00000270460.6_Silent_p.P540P NM_001130071.1 NP_001123543.1 Q9Y6I3 EPN1_HUMAN epsin 1 540 endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 17 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) CTGTGCCTCCCGTCCCTGGAG 0.716000 13 39 0 0 1 0 0 ZNF724P 0 broad.mit.edu 37 19 23405874 23405874 + Silent SNP T T C TCGA-ET-A40R-01A-11D-A23M-08 TCGA-ET-A40R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa48b79b-4172-4fce-852d-69130744fa7a e91a247a-8cd1-48a3-8e7e-8a12644402ab g.chr19:23405874T>C ENST00000418100.1 - 4 1290 c.1173A>G c.(1171-1173)gaA>gaG p.E391E endometrium(3)|kidney(1)|lung(2)|ovary(2) 8 TGTATGGTTTTTCTCCAGTAT 0.393000 4 33 0 0 1 0 0 DNASE1L3 1776 broad.mit.edu 37 3 58179028 58179028 + Silent SNP T T C rs3732630 by1000genomes TCGA-ET-A40R-01A-11D-A23M-08 TCGA-ET-A40R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa48b79b-4172-4fce-852d-69130744fa7a e91a247a-8cd1-48a3-8e7e-8a12644402ab g.chr3:58179028T>C ENST00000483681.1 - 9 1424 c.843A>G c.(841-843)aaA>aaG p.K281K DNASE1L3_ENST00000486455.1_Intron|DNASE1L3_ENST00000318316.3_Intron|DNASE1L3_ENST00000394549.2_Intron Q13609 DNSL3_HUMAN deoxyribonuclease I-like 3 0 apoptosis|DNA catabolic process nucleus calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters breast(2)|large_intestine(4)|lung(6) 12 BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202) ctAACTCATCTTTCCAGGACA 0.428000 4 31 0 0 1 0 0 SLC22A14 9389 broad.mit.edu 37 3 38357962 38357962 + Silent SNP G G A rs149735987 byFrequency TCGA-ET-A40R-01A-11D-A23M-08 TCGA-ET-A40R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa48b79b-4172-4fce-852d-69130744fa7a e91a247a-8cd1-48a3-8e7e-8a12644402ab g.chr3:38357962G>A ENST00000273173.4 + 9 1771 c.1680G>A c.(1678-1680)ccG>ccA p.P560P SLC22A14_ENST00000448498.1_Silent_p.P560P NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 560 P -> R (in dbSNP:rs240033). integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) CCCTGCTGCCGGAAACGCGAG 0.612000 13 43 0 0 1 0 0 LMAN2L 81562 broad.mit.edu 37 2 97403762 97403762 + Missense_Mutation SNP T T A TCGA-ET-A40R-01A-11D-A23M-08 TCGA-ET-A40R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa48b79b-4172-4fce-852d-69130744fa7a e91a247a-8cd1-48a3-8e7e-8a12644402ab g.chr2:97403762T>A ENST00000264963.4 - 2 252 c.230A>T c.(229-231)aAt>aTt p.N77I LMAN2L_ENST00000377079.4_Missense_Mutation_p.N77I|LMAN2L_ENST00000534882.1_Intron|LMAN2L_ENST00000426463.2_5'UTR|LMAN2L_ENST00000537039.1_Intron NM_030805.3 NP_110432.1 Q9H0V9 LMA2L_HUMAN lectin, mannose-binding 2-like 77 L-type lectin-like. ER to Golgi vesicle-mediated transport|protein folding|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane mannose binding|metal ion binding NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1) 7 CACCATGGCATTGCCCATCAG 0.488000 10 26 0 0 1 0 0 ZNF730 100129543 broad.mit.edu 37 19 23328792 23328792 + Missense_Mutation SNP A A G TCGA-ET-A40R-01A-11D-A23M-08 TCGA-ET-A40R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa48b79b-4172-4fce-852d-69130744fa7a e91a247a-8cd1-48a3-8e7e-8a12644402ab g.chr19:23328792A>G ENST00000597761.2 + 4 1145 c.946A>G c.(946-948)Aaa>Gaa p.K316E NM_001277403.1 NP_001264332.1 zinc finger protein 730 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1) 16 CAAATGCGAAAAATGTGGCAA 0.353000 4 19 0 0 1 0 0 P4HA3 283208 broad.mit.edu 37 11 73978243 73978243 + Nonsense_Mutation SNP G G A rs3741132 by1000genomes TCGA-ET-A40R-01A-11D-A23M-08 TCGA-ET-A40R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa48b79b-4172-4fce-852d-69130744fa7a e91a247a-8cd1-48a3-8e7e-8a12644402ab g.chr11:73978243G>A ENST00000427714.2 - 13 1706 c.1678C>T c.(1678-1680)Cag>Tag p.Q560* P4HA3_ENST00000331597.4_3'UTR Q7Z4N8 P4HA3_HUMAN prolyl 4-hydroxylase, alpha polypeptide III 0 endoplasmic reticulum lumen iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1) 15 Breast(11;2.31e-05) TTTGGCTCCTGGCTTCTCTGG 0.562000 4 21 0 0 1 0 0 KRT1 3848 broad.mit.edu 37 12 53069236 53069256 + In_Frame_Del DEL TAGCTGCTACCTCCGGAGCCA TAGCTGCTACCTCCGGAGCCA - rs66529359 by1000genomes TCGA-ET-A40R-01A-11D-A23M-08 TCGA-ET-A40R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa48b79b-4172-4fce-852d-69130744fa7a e91a247a-8cd1-48a3-8e7e-8a12644402ab g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA ENST00000252244.3 - 9 1714_1734 c.1656_1676delTGGCTCCGGAGGTAGCAGCTA c.(1654-1677)tac>ta p.YGSGGSSY552del NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 552 Gly/Ser-rich.|Tail. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding p.S557_G563delSSYGSGG(3) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 tccggagccgtagctgctacctccggagccatagctgccac 0.688 14 3 --- --- --- --- CLIP1 6249 broad.mit.edu 37 12 122812690 122812691 + Frame_Shift_Ins INS - - T TCGA-ET-A40R-01A-11D-A23M-08 TCGA-ET-A40R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa48b79b-4172-4fce-852d-69130744fa7a e91a247a-8cd1-48a3-8e7e-8a12644402ab g.chr12:122812690_122812691insT ENST00000358808.2 - 16 3173_3174 c.3019_3020insA c.(3019-3021)ccafs p.P1007fs CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 1018 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CTGGTTGTGGCTTGTTTCCATT 0.505 8 210 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-ET-A40R-01A-11D-A23M-08 TCGA-ET-A40R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa48b79b-4172-4fce-852d-69130744fa7a e91a247a-8cd1-48a3-8e7e-8a12644402ab g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 22 296 --- --- --- ---