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 LCE2D 353141 broad.mit.edu 37 1 152636831 152636831 + Missense_Mutation SNP C C T TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 292347c6-bf93-4cea-a220-25a1054e259c aee1ef24-f3b6-446c-8ea1-d1d713c501db g.chr1:152636831C>T ENST00000368784.1 + 2 305 c.250C>T c.(250-252)Cgc>Tgc p.R84C NM_178430.2 NP_848517.1 Q5TA82 LCE2D_HUMAN late cornified envelope 2D 84 Cys-rich. keratinization large_intestine(1)|lung(7)|prostate(2) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTTCCACCGGCGCCGGCACCA 0.682 8 86 --- --- --- --- NFASC 23114 broad.mit.edu 37 1 204985658 204985658 + Silent SNP T T C TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 292347c6-bf93-4cea-a220-25a1054e259c aee1ef24-f3b6-446c-8ea1-d1d713c501db g.chr1:204985658T>C ENST00000367172.4 + 32 4363 c.4035T>C c.(4033-4035)tcT>tcC p.S1345S NFASC_ENST00000513543.1_Silent_p.S1167S|NFASC_ENST00000367169.4_Silent_p.S1069S|NFASC_ENST00000360049.4_Silent_p.S1167S|NFASC_ENST00000539706.1_Silent_p.S1172S|NFASC_ENST00000404076.1_Silent_p.S1155S|NFASC_ENST00000338586.6_Silent_p.S1222S|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000404907.1_Silent_p.S1172S|NFASC_ENST00000367171.4_Silent_p.S1330S|NFASC_ENST00000367170.4_Silent_p.S1266S|NFASC_ENST00000401399.1_Silent_p.S1238S|NFASC_ENST00000338515.6_Silent_p.S1255S|NFASC_ENST00000339876.6_Silent_p.S1238S O94856 NFASC_HUMAN neurofascin 1345 axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CTATCTACTCTCTGGCCTAAC 0.567 8 29 --- --- --- --- LY75 4065 broad.mit.edu 37 2 160737746 160737746 + Missense_Mutation SNP T T C TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 292347c6-bf93-4cea-a220-25a1054e259c aee1ef24-f3b6-446c-8ea1-d1d713c501db g.chr2:160737746T>C ENST00000263636.4 - 8 1279 c.1252A>G c.(1252-1254)Aaa>Gaa p.K418E LY75_ENST00000554112.1_Missense_Mutation_p.K418E|LY75_ENST00000553424.1_Missense_Mutation_p.K418E|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.K418E|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.K418E NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) ACTTCTTCTTTGATATCTAAA 0.284 6 79 --- --- --- --- ITGAV 3685 broad.mit.edu 37 2 187495563 187495563 + Missense_Mutation SNP G G A TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 292347c6-bf93-4cea-a220-25a1054e259c aee1ef24-f3b6-446c-8ea1-d1d713c501db g.chr2:187495563G>A ENST00000261023.3 + 5 837 c.563G>A c.(562-564)gGa>gAa p.G188E ITGAV_ENST00000374907.3_Intron|ITGAV_ENST00000433736.2_Missense_Mutation_p.G142E NM_002210.3 NP_002201 P06756 ITAV_HUMAN integrin, alpha V 188 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) TGTCAAGGAGGATTCAGCATT 0.303 16 169 --- --- --- --- HEMK1 51409 broad.mit.edu 37 3 50615277 50615277 + Missense_Mutation SNP T T G TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 292347c6-bf93-4cea-a220-25a1054e259c aee1ef24-f3b6-446c-8ea1-d1d713c501db g.chr3:50615277T>G ENST00000232854.4 + 7 1187 c.635T>G c.(634-636)aTt>aGt p.I212S HEMK1_ENST00000434410.1_Missense_Mutation_p.I212S|HEMK1_ENST00000455834.1_Missense_Mutation_p.I212S NM_016173.3 NP_057257.1 Q9Y5R4 HEMK1_HUMAN HemK methyltransferase family member 1 212 DNA methylation DNA binding|N-methyltransferase activity|protein methyltransferase activity lung(3) 3 BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212) CAGGACAGGATTTGGATCATC 0.557 5 103 --- --- --- --- FAT4 79633 broad.mit.edu 37 4 126241810 126241810 + Missense_Mutation SNP A A C TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 292347c6-bf93-4cea-a220-25a1054e259c aee1ef24-f3b6-446c-8ea1-d1d713c501db g.chr4:126241810A>C ENST00000394329.3 + 1 4257 c.4244A>C c.(4243-4245)gAc>gCc p.D1415A NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1415 Cadherin 13. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GACTTTAATGACAATCCTCCT 0.398 4 188 --- --- --- --- ADAM29 11086 broad.mit.edu 37 4 175896818 175896818 + Missense_Mutation SNP C C A TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 292347c6-bf93-4cea-a220-25a1054e259c aee1ef24-f3b6-446c-8ea1-d1d713c501db g.chr4:175896818C>A ENST00000359240.3 + 5 812 c.142C>A c.(142-144)Cct>Act p.P48T ADAM29_ENST00000445694.1_Missense_Mutation_p.P48T|ADAM29_ENST00000404450.4_Missense_Mutation_p.P48T|ADAM29_ENST00000514159.1_Missense_Mutation_p.P48T NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 48 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) AGGCATGACACCTCCAGGCTG 0.512 3 42 --- --- --- --- HEXB 3074 broad.mit.edu 37 5 74014787 74014787 + Missense_Mutation SNP G G A TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 292347c6-bf93-4cea-a220-25a1054e259c aee1ef24-f3b6-446c-8ea1-d1d713c501db g.chr5:74014787G>A ENST00000511181.1 + 11 1645 c.733G>A c.(733-735)Gat>Aat p.D245N HEXB_ENST00000261416.7_Missense_Mutation_p.D470N|HEXB_ENST00000513539.1_3'UTR P07686 HEXB_HUMAN hexosaminidase B (beta polypeptide) 470 cell death lysosome cation binding|protein heterodimerization activity|protein homodimerization activity endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231) OV - Ovarian serous cystadenocarcinoma(47;1.72e-57) GGAACCTCTTGATTTTGGCGG 0.413 7 95 --- --- --- --- FBXW11 23291 broad.mit.edu 37 5 171299876 171299876 + Splice_Site SNP C C A TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 292347c6-bf93-4cea-a220-25a1054e259c aee1ef24-f3b6-446c-8ea1-d1d713c501db g.chr5:171299876C>A ENST00000296933.6 - 9 1608 c.1238G>T c.(1237-1239)aGg>aTg p.R413M FBXW11_ENST00000425623.2_Splice_Site_p.R394M|FBXW11_ENST00000265094.5_Splice_Site_p.R426M|FBXW11_ENST00000393802.2_Splice_Site_p.R392M NM_033644.2|NM_033645.2 NP_387448.2|NP_387449.2 Q9UKB1 FBW1B_HUMAN F-box and WD repeat domain containing 11 426 cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway centrosome|cytosol|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2) 21 Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659) Medulloblastoma(196;0.00853)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TTCTACCCACCTAATGGTATT 0.463 4 30 --- --- --- --- AZGP1P1 646282 broad.mit.edu 37 7 99578417 99578417 + RNA SNP C C G TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 292347c6-bf93-4cea-a220-25a1054e259c aee1ef24-f3b6-446c-8ea1-d1d713c501db g.chr7:99578417C>G ENST00000425474.1 + 0 33 NR_036679.1 GGTGTCTGTCCTGCTGTCTCT 0.582 14 155 --- --- --- --- MUC17 140453 broad.mit.edu 37 7 100682744 100682744 + Missense_Mutation SNP C C T rs71286275 TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 292347c6-bf93-4cea-a220-25a1054e259c aee1ef24-f3b6-446c-8ea1-d1d713c501db g.chr7:100682744C>T ENST00000306151.4 + 3 8111 c.8047C>T c.(8047-8049)Cca>Tca p.P2683S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2683 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.P2683S(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TAGCAGCATGCCAACCTCAAC 0.493 6 351 --- --- --- --- TRBV29-1 28558 broad.mit.edu 37 7 142448468 142448468 + RNA SNP A A C TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 292347c6-bf93-4cea-a220-25a1054e259c aee1ef24-f3b6-446c-8ea1-d1d713c501db g.chr7:142448468A>C ENST00000422143.2 + 0 129 GTCATCTCTCAAAAGCCAAGC 0.517 13 91 --- --- --- --- PROSC 11212 broad.mit.edu 37 8 37632949 37632949 + Missense_Mutation SNP A A G TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 292347c6-bf93-4cea-a220-25a1054e259c aee1ef24-f3b6-446c-8ea1-d1d713c501db g.chr8:37632949A>G ENST00000328195.3 + 6 614 c.547A>G c.(547-549)Ata>Gta p.I183V NM_007198.3 NP_009129.1 O94903 PROSC_HUMAN proline synthetase co-transcribed homolog (bacterial) 183 pyridoxal phosphate binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1) 7 Lung NSC(58;0.174) BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) L-Proline(DB00172)|Pyridoxal Phosphate(DB00114) GCTGATGACCATAGGAAGCTT 0.517 13 183 --- --- --- --- EFCAB1 79645 broad.mit.edu 37 8 49641689 49641689 + Missense_Mutation SNP C C G TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 292347c6-bf93-4cea-a220-25a1054e259c aee1ef24-f3b6-446c-8ea1-d1d713c501db g.chr8:49641689C>G ENST00000433756.1 - 4 491 c.332G>C c.(331-333)gGg>gCg p.G111A EFCAB1_ENST00000262103.3_Missense_Mutation_p.G163A|EFCAB1_ENST00000523092.1_Missense_Mutation_p.G111A|EFCAB1_ENST00000521002.1_Intron NM_001142857.1 NP_001136329.1 Q9HAE3 EFCB1_HUMAN EF-hand calcium binding domain 1 163 EF-hand 2. calcium ion binding endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2) 14 all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464) AGACAGCTTCCCATCATGGTC 0.408 3 50 --- --- --- --- KIAA2026 158358 broad.mit.edu 37 9 5919991 5919991 + Nonsense_Mutation SNP G G C TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 292347c6-bf93-4cea-a220-25a1054e259c aee1ef24-f3b6-446c-8ea1-d1d713c501db g.chr9:5919991G>C ENST00000399933.3 - 8 6004 c.6005C>G c.(6004-6006)tCa>tGa p.S2002* KIAA2026_ENST00000381461.2_Nonsense_Mutation_p.S1972* NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 2002 breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) TGAAGTCAGTGATACTGTTGG 0.433 7 103 --- --- --- --- ASTN2 23245 broad.mit.edu 37 9 119202943 119202943 + Missense_Mutation SNP G G T TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 292347c6-bf93-4cea-a220-25a1054e259c aee1ef24-f3b6-446c-8ea1-d1d713c501db g.chr9:119202943G>T ENST00000313400.4 - 22 3827 c.3727C>A c.(3727-3729)Cac>Aac p.H1243N ASTN2_ENST00000288520.5_Missense_Mutation_p.H344N|ASTN2_ENST00000341734.4_Missense_Mutation_p.H295N|ASTN2_ENST00000361209.2_Missense_Mutation_p.H1192N|ASTN2_ENST00000361477.3_Missense_Mutation_p.H295N|ASTN2_ENST00000373996.3_Missense_Mutation_p.H1239N O75129 ASTN2_HUMAN astrotactin 2 1243 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 TTTTCATAGTGAGAGTTGTAG 0.512 7 58 --- --- --- --- CRAT 1384 broad.mit.edu 37 9 131860406 131860406 + Silent SNP G G A TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 292347c6-bf93-4cea-a220-25a1054e259c aee1ef24-f3b6-446c-8ea1-d1d713c501db g.chr9:131860406G>A ENST00000318080.2 - 11 1644 c.1350C>T c.(1348-1350)gcC>gcT p.A450A RP11-247A12.1_ENST00000434250.1_RNA NM_000755.3|NM_001257363.1 NP_000746|NP_001244292.1 P43155 CACP_HUMAN carnitine O-acetyltransferase 450 energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix carnitine O-acetyltransferase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) TTTCATAGGTGGCACATGCCT 0.627 7 139 --- --- --- --- DDX6 1656 broad.mit.edu 37 11 118636057 118636057 + Missense_Mutation SNP A A C TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 292347c6-bf93-4cea-a220-25a1054e259c aee1ef24-f3b6-446c-8ea1-d1d713c501db g.chr11:118636057A>C ENST00000264018.4 - 6 811 c.506T>G c.(505-507)gTg>gGg p.V169G DDX6_ENST00000534980.1_Missense_Mutation_p.V169G|DDX6_ENST00000526070.2_Missense_Mutation_p.V169G NM_004397.4 NP_004388.2 P26196 DDX6_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 6 169 Helicase ATP-binding. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 13 all_hematologic(175;0.0839) Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103) OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377) GGGAACAATCACCATTGCTGA 0.408 T IGH@ B-NHL 27 142 --- --- --- --- FREM2 341640 broad.mit.edu 37 13 39265100 39265100 + Missense_Mutation SNP G G C TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 292347c6-bf93-4cea-a220-25a1054e259c aee1ef24-f3b6-446c-8ea1-d1d713c501db g.chr13:39265100G>C ENST00000280481.7 + 1 3835 c.3619G>C c.(3619-3621)Gta>Cta p.V1207L NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1207 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CATGAGTCTGGTAATTGATAC 0.418 46 293 --- --- --- --- ARHGAP5 394 broad.mit.edu 37 14 32560879 32560879 + Missense_Mutation SNP G G A TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 292347c6-bf93-4cea-a220-25a1054e259c aee1ef24-f3b6-446c-8ea1-d1d713c501db g.chr14:32560879G>A ENST00000345122.3 + 2 1319 c.1004G>A c.(1003-1005)aGa>aAa p.R335K ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.R335K|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.R335K|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.R335K NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 335 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) AGAAAAAGGAGAGAAGAGTAT 0.313 11 88 --- --- --- --- SPTB 6710 broad.mit.edu 37 14 65270402 65270402 + Missense_Mutation SNP T T A TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 292347c6-bf93-4cea-a220-25a1054e259c aee1ef24-f3b6-446c-8ea1-d1d713c501db g.chr14:65270402T>A ENST00000389722.3 - 3 450 c.397A>T c.(397-399)Atg>Ttg p.M133L SPTB_ENST00000542895.1_Missense_Mutation_p.M133L|SPTB_ENST00000389720.3_Missense_Mutation_p.M133L|SPTB_ENST00000389721.5_Missense_Mutation_p.M133L|SPTB_ENST00000556626.1_Missense_Mutation_p.M133L NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 133 Actin-binding.|CH 1. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TGGGAGCCCATGTTCTCCAGG 0.597 4 42 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25321077 25321077 + RNA SNP G G C TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 292347c6-bf93-4cea-a220-25a1054e259c aee1ef24-f3b6-446c-8ea1-d1d713c501db g.chr15:25321077G>C ENST00000549804.2 + 0 1109 SNORD116-11_ENST00000383882.1_RNA ACTGTGCATGGATCAATGATG 0.448 6 50 --- --- --- --- AQR 9716 broad.mit.edu 37 15 35207358 35207358 + Silent SNP C C T TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 292347c6-bf93-4cea-a220-25a1054e259c aee1ef24-f3b6-446c-8ea1-d1d713c501db g.chr15:35207358C>T ENST00000156471.5 - 16 1590 c.1365G>A c.(1363-1365)ttG>ttA p.L455L NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 455 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) ACTGCAAATTCAATTTGGGAA 0.363 3 41 --- --- --- --- SNX22 79856 broad.mit.edu 37 15 64445496 64445496 + Missense_Mutation SNP G G T TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 292347c6-bf93-4cea-a220-25a1054e259c aee1ef24-f3b6-446c-8ea1-d1d713c501db g.chr15:64445496G>T ENST00000325881.4 + 4 376 c.317G>T c.(316-318)aGa>aTa p.R106I NM_024798.2 NP_079074.2 Q96L94 SNX22_HUMAN sorting nexin 22 106 PX. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding large_intestine(3)|lung(1)|urinary_tract(2) 6 GAATTCCTGAGACTTCGGCAC 0.597 3 40 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102291938 102291938 + RNA SNP G G A TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 292347c6-bf93-4cea-a220-25a1054e259c aee1ef24-f3b6-446c-8ea1-d1d713c501db g.chr15:102291938G>A ENST00000561463.1 + 0 704 TGCATGCACCGCCTCATGGGG 0.587 5 29 --- --- --- --- CD68 968 broad.mit.edu 37 17 7484694 7484694 + Splice_Site SNP A A T TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 292347c6-bf93-4cea-a220-25a1054e259c aee1ef24-f3b6-446c-8ea1-d1d713c501db g.chr17:7484694A>T ENST00000250092.6 + 6 1142 c.e6-1 CD68_ENST00000380498.6_Splice_Site NM_001251.2 NP_001242.2 P34810 CD68_HUMAN CD68 molecule endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane endometrium(1)|lung(1)|skin(1) 3 TCCTTCCGCCAGGTTTCTCCT 0.567 4 160 --- --- --- --- MYH4 4622 broad.mit.edu 37 17 10355471 10355471 + Silent SNP G G A TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 292347c6-bf93-4cea-a220-25a1054e259c aee1ef24-f3b6-446c-8ea1-d1d713c501db g.chr17:10355471G>A ENST00000255381.2 - 27 3635 c.3525C>T c.(3523-3525)ttC>ttT p.F1175F RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1175 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GCATTTTCTGGAACTCAGCCT 0.597 5 161 --- --- --- --- TMEM132E 124842 broad.mit.edu 37 17 32964623 32964623 + Missense_Mutation SNP C C A TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 292347c6-bf93-4cea-a220-25a1054e259c aee1ef24-f3b6-446c-8ea1-d1d713c501db g.chr17:32964623C>A ENST00000321639.5 + 10 2655 c.2327C>A c.(2326-2328)cCc>cAc p.P776H NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 776 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) GTCGTGCCACCCACAGAAGAC 0.736 4 27 --- --- --- --- FBN3 84467 broad.mit.edu 37 19 8130923 8130923 + Silent SNP A A C TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 292347c6-bf93-4cea-a220-25a1054e259c aee1ef24-f3b6-446c-8ea1-d1d713c501db g.chr19:8130923A>C ENST00000600128.1 - 64 8724 c.8310T>G c.(8308-8310)ccT>ccG p.P2770P FBN3_ENST00000601739.1_Silent_p.P2770P|FBN3_ENST00000270509.2_Silent_p.P2770P Q75N90 FBN3_HUMAN fibrillin 3 2770 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GGTAGGTTCCAGGCCCCGGCC 0.677 14 51 --- --- --- --- SLC44A2 57153 broad.mit.edu 37 19 10747165 10747165 + Missense_Mutation SNP C C T TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 292347c6-bf93-4cea-a220-25a1054e259c aee1ef24-f3b6-446c-8ea1-d1d713c501db g.chr19:10747165C>T ENST00000586078.1 + 15 1509 c.1400C>T c.(1399-1401)aCg>aTg p.T467M SLC44A2_ENST00000335757.5_Missense_Mutation_p.T467M|SLC44A2_ENST00000407327.4_Missense_Mutation_p.T465M NM_020428.3 NP_065161.3 Q8IWA5 CTL2_HUMAN solute carrier family 44 (choline transporter), member 2 467 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) GGCCAGGTCACGCTGGCCGGG 0.667 9 82 --- --- --- --- ZNF112 7665 broad.mit.edu 37 19 44832431 44832431 + Missense_Mutation SNP C C G TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 292347c6-bf93-4cea-a220-25a1054e259c aee1ef24-f3b6-446c-8ea1-d1d713c501db g.chr19:44832431C>G ENST00000354340.4 - 4 1930 c.1879G>C c.(1879-1881)Gga>Cga p.G627R ZNF112_ENST00000337401.4_Missense_Mutation_p.G633R|ZNF112_ENST00000536500.1_Missense_Mutation_p.G650R NM_013380.3 NP_037512.3 zinc finger protein 112 GGTTTTTCTCCAGTGTGGACT 0.453 11 232 --- --- --- --- ZNF417 147687 broad.mit.edu 37 19 58420529 58420529 + Missense_Mutation SNP C C A TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 292347c6-bf93-4cea-a220-25a1054e259c aee1ef24-f3b6-446c-8ea1-d1d713c501db g.chr19:58420529C>A ENST00000312026.5 - 3 1281 c.1117G>T c.(1117-1119)Gtt>Ttt p.V373F ZNF417_ENST00000536263.1_Missense_Mutation_p.V174F|CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Missense_Mutation_p.V372F NM_152475.2 NP_689688.2 Q8TAU3 ZN417_HUMAN zinc finger protein 417 373 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1) 18 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151) CCAGTGTGAACACGCTGATGG 0.448 10 192 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36708179 36708179 + Missense_Mutation SNP T T A TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 292347c6-bf93-4cea-a220-25a1054e259c aee1ef24-f3b6-446c-8ea1-d1d713c501db g.chr22:36708179T>A ENST00000216181.5 - 14 1873 c.1643A>T c.(1642-1644)cAg>cTg p.Q548L NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 548 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 GCCCTGCTCCTGCATCACCTT 0.607 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 8 64 --- --- --- --- TLR8 51311 broad.mit.edu 37 X 12938245 12938245 + Silent SNP C C T TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 292347c6-bf93-4cea-a220-25a1054e259c aee1ef24-f3b6-446c-8ea1-d1d713c501db g.chrX:12938245C>T ENST00000218032.6 + 2 1173 c.1086C>T c.(1084-1086)aaC>aaT p.N362N TLR8_ENST00000311912.5_Silent_p.N380N NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 362 cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TTTCCAGAAACTTCTCTAAAC 0.403 11 106 --- --- --- --- DDX53 168400 broad.mit.edu 37 X 23018291 23018291 + Missense_Mutation SNP G G T TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 292347c6-bf93-4cea-a220-25a1054e259c aee1ef24-f3b6-446c-8ea1-d1d713c501db g.chrX:23018291G>T ENST00000327968.5 + 1 205 c.117G>T c.(115-117)caG>caT p.Q39H RP11-40F8.2_ENST00000455399.1_lincRNA NM_182699.3 NP_874358.2 Q86TM3 DDX53_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 39 nucleus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 35 TCGGCCATCAGGGACCGAGAG 0.542 4 13 --- --- --- --- ERCC6L 54821 broad.mit.edu 37 X 71425375 71425375 + Missense_Mutation SNP C C G TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 292347c6-bf93-4cea-a220-25a1054e259c aee1ef24-f3b6-446c-8ea1-d1d713c501db g.chrX:71425375C>G ENST00000373657.1 - 3 3475 c.2873G>C c.(2872-2874)aGt>aCt p.S958T ERCC6L_ENST00000334463.3_Missense_Mutation_p.S1081T|PIN4_ENST00000423432.2_Intron Q2NKX8 ERC6L_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 1081 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1) 38 Renal(35;0.156) ATTTACACTACTGGGTATTTG 0.388 9 60 --- --- --- --- ASPA 443 broad.mit.edu 37 17 3386885 3386885 + Splice_Site DEL G G - TCGA-M7-A721-01A-12D-A32B-08 TCGA-M7-A721-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 292347c6-bf93-4cea-a220-25a1054e259c aee1ef24-f3b6-446c-8ea1-d1d713c501db g.chr17:3386885delG ENST00000263080.2 + 3 683 c.525delG c.(523-525)gtg>gt p.V175fs ASPA_ENST00000456349.2_Splice_Site_p.V175fs|SPATA22_ENST00000541913.1_Intron NM_000049.2 NP_000040.1 P45381 ACY2_HUMAN aspartoacylase 175 aspartate catabolic process cytoplasm|nucleus aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1) 17 L-Aspartic Acid(DB00128) AGTATCCTGTGGGTAAGTCAT 0.383 12 113 --- --- --- ---