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 RPRD2 23248 broad.mit.edu 37 1 150445317 150445317 + Missense_Mutation SNP C C G TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a091da3-c073-477b-9381-2ca4d27d82f3 34e9198a-0d9e-4624-9f78-4b09ec5f2a6c g.chr1:150445317C>G ENST00000401000.4 + 10 3880 c.3815C>G c.(3814-3816)cCt>cGt p.P1272R RPRD2_ENST00000369068.4_Missense_Mutation_p.P1298R|RPRD2_ENST00000492220.1_3'UTR Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 1298 Pro-rich. protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 CCTCCACCCCCTGTTGACCAC 0.607 3 9 --- --- --- --- SPTA1 6708 broad.mit.edu 37 1 158646058 158646058 + Missense_Mutation SNP T T C TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a091da3-c073-477b-9381-2ca4d27d82f3 34e9198a-0d9e-4624-9f78-4b09ec5f2a6c g.chr1:158646058T>C ENST00000368147.4 - 8 1165 c.985A>G c.(985-987)Aag>Gag p.K329E NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) AGTGTCAGCTTCTCTGCTTTA 0.498 72 99 --- --- --- --- OR6K3 391114 broad.mit.edu 37 1 158687669 158687669 + Silent SNP G G A TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a091da3-c073-477b-9381-2ca4d27d82f3 34e9198a-0d9e-4624-9f78-4b09ec5f2a6c g.chr1:158687669G>A ENST00000368146.1 - 1 284 c.285C>T c.(283-285)ccC>ccT p.P95P OR6K3_ENST00000368145.1_Silent_p.P79P Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, member 3 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41 all_hematologic(112;0.0378) AGAGCATCTTGGGAATGGTGG 0.453 40 74 --- --- --- --- OR6K3 391114 broad.mit.edu 37 1 158687670 158687670 + Missense_Mutation SNP G G T TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a091da3-c073-477b-9381-2ca4d27d82f3 34e9198a-0d9e-4624-9f78-4b09ec5f2a6c g.chr1:158687670G>T ENST00000368146.1 - 1 283 c.284C>A c.(283-285)cCc>cAc p.P95H OR6K3_ENST00000368145.1_Missense_Mutation_p.P79H Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, member 3 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41 all_hematologic(112;0.0378) GAGCATCTTGGGAATGGTGGC 0.453 40 77 --- --- --- --- APOB 338 broad.mit.edu 37 2 21233084 21233084 + Missense_Mutation SNP C C T TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a091da3-c073-477b-9381-2ca4d27d82f3 34e9198a-0d9e-4624-9f78-4b09ec5f2a6c g.chr2:21233084C>T ENST00000233242.1 - 26 6783 c.6656G>A c.(6655-6657)cGt>cAt p.R2219H NM_000384.2 NP_000375 P04114 APOB_HUMAN apolipoprotein B 2219 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TAAATTTACACGGATATGATA 0.259 18 41 --- --- --- --- NCOA1 8648 broad.mit.edu 37 2 24929887 24929887 + Missense_Mutation SNP C C G TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a091da3-c073-477b-9381-2ca4d27d82f3 34e9198a-0d9e-4624-9f78-4b09ec5f2a6c g.chr2:24929887C>G ENST00000405141.1 + 14 2259 c.1548C>G c.(1546-1548)agC>agG p.S516R NCOA1_ENST00000538539.1_Missense_Mutation_p.S516R|NCOA1_ENST00000288599.5_Missense_Mutation_p.S516R|NCOA1_ENST00000348332.3_Missense_Mutation_p.S516R|NCOA1_ENST00000406961.1_Missense_Mutation_p.S516R|NCOA1_ENST00000395856.3_Missense_Mutation_p.S516R|NCOA1_ENST00000407230.1_Missense_Mutation_p.S365R Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 516 Interaction with STAT3.|Ser-rich. PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGACATTAAGCTCTCCCGTTG 0.418 T PAX3 alveolar rhadomyosarcoma 27 45 --- --- --- --- C2orf61 285051 broad.mit.edu 37 2 47378575 47378575 + Missense_Mutation SNP T T G TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a091da3-c073-477b-9381-2ca4d27d82f3 34e9198a-0d9e-4624-9f78-4b09ec5f2a6c g.chr2:47378575T>G ENST00000294947.2 - 3 256 c.221A>C c.(220-222)aAt>aCt p.N74T RP11-761B3.1_ENST00000422269.1_3'UTR|C2orf61_ENST00000445927.2_Missense_Mutation_p.N74T NM_173649.2 NP_775920.1 Q8N801 CB061_HUMAN chromosome 2 open reading frame 61 74 p.0?(2) endometrium(1)|kidney(1)|lung(2) 4 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) GTTTTTAAAATTGTAGGTTGC 0.398 46 59 --- --- --- --- IL18RAP 8807 broad.mit.edu 37 2 103063627 103063627 + Silent SNP G G A TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a091da3-c073-477b-9381-2ca4d27d82f3 34e9198a-0d9e-4624-9f78-4b09ec5f2a6c g.chr2:103063627G>A ENST00000264260.2 + 10 1759 c.1170G>A c.(1168-1170)ctG>ctA p.L390L IL18RAP_ENST00000409369.1_Silent_p.L248L NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 390 cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 AAATAGTGCTGCTGTACCGGA 0.577 65 73 --- --- --- --- XIRP2 129446 broad.mit.edu 37 2 168107563 168107563 + Missense_Mutation SNP C C G TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a091da3-c073-477b-9381-2ca4d27d82f3 34e9198a-0d9e-4624-9f78-4b09ec5f2a6c g.chr2:168107563C>G ENST00000409195.1 + 9 9750 c.9661C>G c.(9661-9663)Ctt>Gtt p.L3221V XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.L2999V|XIRP2_ENST00000295237.9_Missense_Mutation_p.L3221V NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 3046 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TCCTGCAACACTTCGTCGTCA 0.453 26 30 --- --- --- --- TTC30A 92104 broad.mit.edu 37 2 178482390 178482390 + Missense_Mutation SNP G G A TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a091da3-c073-477b-9381-2ca4d27d82f3 34e9198a-0d9e-4624-9f78-4b09ec5f2a6c g.chr2:178482390G>A ENST00000355689.5 - 1 1304 c.1040C>T c.(1039-1041)gCc>gTc p.A347V AC073834.3_ENST00000357045.4_RNA NM_152275.3 NP_689488.3 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A cell projection organization cilium binding autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) CGTCAAATGGGCATTTTCTGC 0.448 36 50 --- --- --- --- WDR75 84128 broad.mit.edu 37 2 190315668 190315668 + Missense_Mutation SNP G G T TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a091da3-c073-477b-9381-2ca4d27d82f3 34e9198a-0d9e-4624-9f78-4b09ec5f2a6c g.chr2:190315668G>T ENST00000314761.4 + 3 316 c.256G>T c.(256-258)Gac>Tac p.D86Y NM_032168.1 NP_115544.1 Q8IWA0 WDR75_HUMAN WD repeat domain 75 86 nucleolus breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456) TAAACTGTGGGACTATATAGA 0.284 20 57 --- --- --- --- DCLK3 85443 broad.mit.edu 37 3 36779816 36779816 + Missense_Mutation SNP G G A TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a091da3-c073-477b-9381-2ca4d27d82f3 34e9198a-0d9e-4624-9f78-4b09ec5f2a6c g.chr3:36779816G>A ENST00000416516.2 - 2 825 c.335C>T c.(334-336)gCc>gTc p.A112V NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 112 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 TTCCAGAGTGGCTTCCCTGGG 0.557 24 136 --- --- --- --- PTPN23 25930 broad.mit.edu 37 3 47437635 47437635 + Silent SNP T T C TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a091da3-c073-477b-9381-2ca4d27d82f3 34e9198a-0d9e-4624-9f78-4b09ec5f2a6c g.chr3:47437635T>C ENST00000265562.4 + 2 164 c.87T>C c.(85-87)ttT>ttC p.F29F PTPN23_ENST00000431726.1_5'UTR NM_015466.2 NP_056281.1 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 23 29 BRO1. cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CTCTGTAGTTTGTCCTGAAGA 0.478 10 83 --- --- --- --- GLP1R 2740 broad.mit.edu 37 6 39046951 39046951 + Missense_Mutation SNP A A C TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a091da3-c073-477b-9381-2ca4d27d82f3 34e9198a-0d9e-4624-9f78-4b09ec5f2a6c g.chr6:39046951A>C ENST00000373256.4 + 10 1061 c.1018A>C c.(1018-1020)Atg>Ctg p.M340L NM_002062.3 NP_002053.3 P43220 GLP1R_HUMAN glucagon-like peptide 1 receptor 340 activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane glucagon receptor activity|peptide receptor activity, G-protein coupled breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 31 Exenatide(DB01276)|Glucagon recombinant(DB00040) GGCCAATCTCATGTGCAAGAC 0.542 60 28 --- --- --- --- ZNF318 24149 broad.mit.edu 37 6 43325471 43325471 + Missense_Mutation SNP C C T TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a091da3-c073-477b-9381-2ca4d27d82f3 34e9198a-0d9e-4624-9f78-4b09ec5f2a6c g.chr6:43325471C>T ENST00000361428.2 - 3 658 c.581G>A c.(580-582)cGa>cAa p.R194Q ZNF318_ENST00000318149.3_Missense_Mutation_p.R194Q NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 194 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CTGGGAGCTTCGAGTGAAGAC 0.473 40 92 --- --- --- --- GLI3 2737 broad.mit.edu 37 7 42018254 42018254 + Missense_Mutation SNP A A G TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a091da3-c073-477b-9381-2ca4d27d82f3 34e9198a-0d9e-4624-9f78-4b09ec5f2a6c g.chr7:42018254A>G ENST00000395925.3 - 11 1675 c.1591T>C c.(1591-1593)Tat>Cat p.Y531H GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 531 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 ACCAACATATACTGGGCTTTG 0.502 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 11 128 --- --- --- --- TEX15 56154 broad.mit.edu 37 8 30699598 30699598 + Silent SNP T T C TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a091da3-c073-477b-9381-2ca4d27d82f3 34e9198a-0d9e-4624-9f78-4b09ec5f2a6c g.chr8:30699598T>C ENST00000256246.2 - 1 7010 c.6936A>G c.(6934-6936)cgA>cgG p.R2312R NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2312 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CAGTGCTCGGTCGTTTTTTAG 0.343 28 105 --- --- --- --- RANBP6 26953 broad.mit.edu 37 9 6015581 6015581 + Silent SNP C C A TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a091da3-c073-477b-9381-2ca4d27d82f3 34e9198a-0d9e-4624-9f78-4b09ec5f2a6c g.chr9:6015581C>A ENST00000259569.5 - 1 37 c.27G>T c.(25-27)gtG>gtT p.V9V RANBP6_ENST00000485372.1_5'UTR NM_001243202.1|NM_001243203.1|NM_012416.3 NP_001230131.1|NP_001230132.1|NP_036548.1 O60518 RNBP6_HUMAN RAN binding protein 6 9 protein transport cytoplasm|nucleus binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) CGGTCGCCGGCACCCCTGCAG 0.577 19 34 --- --- --- --- ABCA1 19 broad.mit.edu 37 9 107564358 107564358 + Missense_Mutation SNP T T C TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a091da3-c073-477b-9381-2ca4d27d82f3 34e9198a-0d9e-4624-9f78-4b09ec5f2a6c g.chr9:107564358T>C ENST00000374736.3 - 34 5069 c.4675A>G c.(4675-4677)Aag>Gag p.K1559E NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 1559 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AGGTGTTTCTTCATTTGTTTG 0.423 4 49 --- --- --- --- SBF2 81846 broad.mit.edu 37 11 9990086 9990086 + Missense_Mutation SNP G G T TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a091da3-c073-477b-9381-2ca4d27d82f3 34e9198a-0d9e-4624-9f78-4b09ec5f2a6c g.chr11:9990086G>T ENST00000256190.8 - 14 1539 c.1402C>A c.(1402-1404)Cca>Aca p.P468T NM_030962.3 NP_112224.1 Q86WG5 MTMRD_HUMAN SET binding factor 2 468 myelination cytoplasm|membrane phosphatase activity|protein binding breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) TGAGGATTTGGATTCTCCTGT 0.448 30 52 --- --- --- --- KCNA1 3736 broad.mit.edu 37 12 5020567 5020567 + Missense_Mutation SNP A A T TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a091da3-c073-477b-9381-2ca4d27d82f3 34e9198a-0d9e-4624-9f78-4b09ec5f2a6c g.chr12:5020567A>T ENST00000382545.3 + 2 1130 c.23A>T c.(22-24)aAc>aTc p.N8I KCNA1_ENST00000543874.2_Intron NM_000217.2 NP_000208.2 Q09470 KCNA1_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) 8 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TCTGGGGAGAACGTGGACGAG 0.731 8 18 --- --- --- --- LOC101927905 101927905 broad.mit.edu 37 12 8388294 8388294 + RNA SNP C C T TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a091da3-c073-477b-9381-2ca4d27d82f3 34e9198a-0d9e-4624-9f78-4b09ec5f2a6c g.chr12:8388294C>T ENST00000304751.9 + 0 284 FAM86FP_ENST00000427893.2_RNA GAGATGATGGCTGTGCTCTCG 0.587 8 25 --- --- --- --- PIP4K2C 79837 broad.mit.edu 37 12 57994722 57994722 + Silent SNP C C T TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a091da3-c073-477b-9381-2ca4d27d82f3 34e9198a-0d9e-4624-9f78-4b09ec5f2a6c g.chr12:57994722C>T ENST00000354947.5 + 8 958 c.942C>T c.(940-942)agC>agT p.S314S PIP4K2C_ENST00000540759.2_Silent_p.S314S|PIP4K2C_ENST00000422156.3_Silent_p.S266S|PIP4K2C_ENST00000550465.1_Silent_p.S296S Q8TBX8 PI42C_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, gamma 314 PIPK. cytoplasm|membrane 1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Melanoma(17;0.122) GGGACTGCAGCCTGACTGGAC 0.617 29 52 --- --- --- --- METAP2 10988 broad.mit.edu 37 12 95868032 95868032 + Missense_Mutation SNP G G A TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a091da3-c073-477b-9381-2ca4d27d82f3 34e9198a-0d9e-4624-9f78-4b09ec5f2a6c g.chr12:95868032G>A ENST00000323666.5 + 1 306 c.77G>A c.(76-78)gGa>gAa p.G26E METAP2_ENST00000261220.9_Missense_Mutation_p.G26E|METAP2_ENST00000546753.1_Missense_Mutation_p.G26E|METAP2_ENST00000551840.1_Missense_Mutation_p.G26E|METAP2_ENST00000550777.1_Missense_Mutation_p.G26E NM_006838.3 NP_006829.1 P50579 AMPM2_HUMAN methionyl aminopeptidase 2 26 N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis cytoplasm aminopeptidase activity|metal ion binding|metalloexopeptidase activity endometrium(3)|large_intestine(2)|lung(7)|prostate(1) 13 L-Methionine(DB00134) AGGGAAGAAGGAGCTGCCTCT 0.557 15 25 --- --- --- --- MIPOL1 145282 broad.mit.edu 37 14 37736347 37736347 + Missense_Mutation SNP C C G TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a091da3-c073-477b-9381-2ca4d27d82f3 34e9198a-0d9e-4624-9f78-4b09ec5f2a6c g.chr14:37736347C>G ENST00000327441.7 + 5 690 c.224C>G c.(223-225)tCt>tGt p.S75C MIPOL1_ENST00000545536.1_Missense_Mutation_p.S44C|MIPOL1_ENST00000537471.1_Missense_Mutation_p.S75C|MIPOL1_ENST00000536774.1_Intron|MIPOL1_ENST00000539174.2_3'UTR|MIPOL1_ENST00000396294.2_Missense_Mutation_p.S75C|MIPOL1_ENST00000539062.2_Missense_Mutation_p.S44C|MIPOL1_ENST00000556451.1_Missense_Mutation_p.S44C NM_001195296.1|NM_001195297.1|NM_138731.6 NP_001182225.1|NP_001182226.1|NP_620059.1 Q8TD10 MIPO1_HUMAN mirror-image polydactyly 1 75 breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196) GBM - Glioblastoma multiforme(112;0.0358) GATGATGAGTCTGTTTACTGC 0.423 14 16 --- --- --- --- FOXA1 3169 broad.mit.edu 37 14 38061313 38061313 + Missense_Mutation SNP C C T TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a091da3-c073-477b-9381-2ca4d27d82f3 34e9198a-0d9e-4624-9f78-4b09ec5f2a6c g.chr14:38061313C>T ENST00000250448.2 - 2 737 c.676G>A c.(676-678)Gac>Aac p.D226N FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.D193N NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 226 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding p.D226N(2)|p.D226Y(1) breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) ACGAAGCAGTCATTGAAGGAC 0.607 16 18 --- --- --- --- TSC2 7249 broad.mit.edu 37 16 2136230 2136230 + Missense_Mutation SNP G G C TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a091da3-c073-477b-9381-2ca4d27d82f3 34e9198a-0d9e-4624-9f78-4b09ec5f2a6c g.chr16:2136230G>C ENST00000219476.3 + 37 5329 c.4699G>C c.(4699-4701)Ggc>Cgc p.G1567R TSC2_ENST00000439673.2_Missense_Mutation_p.G1464R|TSC2_ENST00000382538.6_Missense_Mutation_p.G1452R|TSC2_ENST00000401874.2_Missense_Mutation_p.G1500R|TSC2_ENST00000353929.4_Missense_Mutation_p.G1524R|TSC2_ENST00000350773.4_Missense_Mutation_p.G1544R|TSC2_ENST00000568454.1_Missense_Mutation_p.G1511R NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 1567 Rap-GAP. cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) CAATGAGCATGGCTCCTACAG 0.667 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 16 17 --- --- --- --- CETP 1071 broad.mit.edu 37 16 57003576 57003576 + Missense_Mutation SNP A A T TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a091da3-c073-477b-9381-2ca4d27d82f3 34e9198a-0d9e-4624-9f78-4b09ec5f2a6c g.chr16:57003576A>T ENST00000200676.3 + 4 552 c.422A>T c.(421-423)cAg>cTg p.Q141L CETP_ENST00000569082.1_3'UTR|CETP_ENST00000379780.2_Missense_Mutation_p.Q141L|CETP_ENST00000566128.1_Missense_Mutation_p.Q76L NM_000078.2 NP_000069.2 P11597 CETP_HUMAN cholesteryl ester transfer protein, plasma 141 cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling high-density lipoprotein particle|vesicle cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3) 23 ATTGACCTCCAGATCAACACA 0.577 17 42 --- --- --- --- TOP3A 7156 broad.mit.edu 37 17 18181563 18181563 + Missense_Mutation SNP T T A TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a091da3-c073-477b-9381-2ca4d27d82f3 34e9198a-0d9e-4624-9f78-4b09ec5f2a6c g.chr17:18181563T>A ENST00000321105.5 - 18 2467 c.2253A>T c.(2251-2253)agA>agT p.R751S TOP3A_ENST00000540524.1_Missense_Mutation_p.R281S|TOP3A_ENST00000542570.1_Missense_Mutation_p.R656S NM_004618.3 NP_004609.1 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 751 DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1) 36 CCCCTGAAAATCTCAGGTCCA 0.622 21 30 --- --- --- --- ABCA7 10347 broad.mit.edu 37 19 1050920 1050920 + Splice_Site SNP G G C TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a091da3-c073-477b-9381-2ca4d27d82f3 34e9198a-0d9e-4624-9f78-4b09ec5f2a6c g.chr19:1050920G>C ENST00000263094.6 + 19 2784 c.2553G>C c.(2551-2553)ctG>ctC p.L851L ABCA7_ENST00000433129.1_Splice_Site_p.L851L|ABCA7_ENST00000435683.2_Splice_Site_p.L713L NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 851 ABC transporter 1. phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTATCCACAGGTCCATCTTGA 0.527 9 72 --- --- --- --- NCAN 1463 broad.mit.edu 37 19 19335210 19335210 + Missense_Mutation SNP A A G TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a091da3-c073-477b-9381-2ca4d27d82f3 34e9198a-0d9e-4624-9f78-4b09ec5f2a6c g.chr19:19335210A>G ENST00000252575.6 + 5 845 c.746A>G c.(745-747)tAc>tGc p.Y249C NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan Link 1. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) CAGGAACTCTACGATGTGTAT 0.587 21 25 --- --- --- --- ZNF146 7705 broad.mit.edu 37 19 36727583 36727583 + Missense_Mutation SNP T T C TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a091da3-c073-477b-9381-2ca4d27d82f3 34e9198a-0d9e-4624-9f78-4b09ec5f2a6c g.chr19:36727583T>C ENST00000456324.1 + 3 1690 c.241T>C c.(241-243)Ttt>Ctt p.F81L ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000443387.2_Missense_Mutation_p.F81L NM_001099638.1|NM_001099639.1 NP_001093108.1|NP_001093109.1 Q15072 OZF_HUMAN zinc finger protein 146 81 regulation of transcription, DNA-dependent cytoplasm|nucleolus DNA binding|heparin binding|zinc ion binding kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 Esophageal squamous(110;0.162) TGGAAAATCATTTAGCCAGAA 0.398 9 85 --- --- --- --- SCAF1 58506 broad.mit.edu 37 19 50156102 50156102 + Missense_Mutation SNP C C T TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a091da3-c073-477b-9381-2ca4d27d82f3 34e9198a-0d9e-4624-9f78-4b09ec5f2a6c g.chr19:50156102C>T ENST00000360565.3 + 7 2580 c.2456C>T c.(2455-2457)tCt>tTt p.S819F NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 819 Ser-rich. mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) GGCTCAGGCTCTTCATCCTCG 0.662 9 8 --- --- --- --- KLK4 9622 broad.mit.edu 37 19 51412612 51412612 + Missense_Mutation SNP G G C TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a091da3-c073-477b-9381-2ca4d27d82f3 34e9198a-0d9e-4624-9f78-4b09ec5f2a6c g.chr19:51412612G>C ENST00000324041.1 - 2 119 c.120C>G c.(118-120)caC>caG p.H40Q NM_004917.3 NP_004908.3 Q9Y5K2 KLK4_HUMAN kallikrein-related peptidase 4 40 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8) 19 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878) AGGGCTGCGAGTGCGGGCTGC 0.632 19 153 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140996226 140996226 + Silent SNP C C A TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a091da3-c073-477b-9381-2ca4d27d82f3 34e9198a-0d9e-4624-9f78-4b09ec5f2a6c g.chrX:140996226C>A ENST00000285879.4 + 4 3322 c.3036C>A c.(3034-3036)acC>acA p.T1012T MAGEC1_ENST00000406005.2_Silent_p.T79T NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 1012 MAGE. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TAAAGGGCACCTATGCCTCTG 0.547 HNSCC(15;0.026) 50 7 --- --- --- --- APC 324 broad.mit.edu 37 5 112175225 112175231 + Frame_Shift_Del DEL GGAACTA GGAACTA - TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a091da3-c073-477b-9381-2ca4d27d82f3 34e9198a-0d9e-4624-9f78-4b09ec5f2a6c g.chr5:112175225_112175231delGGAACTA ENST00000457016.1 + 16 4314_4320 c.3934_3940delGGAACTA c.(3934-3942)ggaactaggfs p.GTR1312fs CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Frame_Shift_Del_p.GTR1312fs|APC_ENST00000508376.2_Frame_Shift_Del_p.GTR1312fs P25054 APC_HUMAN adenomatous polyposis coli 1312 Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich. G -> E (in gastric cancer). canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.G1312*(25)|p.G1312fs*9(2)|p.G1312E(1)|p.T1313fs*8(1)|p.?(1)|p.T1313A(1)|p.K1192fs*3(1)|p.G1312R(1)|p.G1312fs*4(1)|p.T1313fs*2(1)|p.G1312fs*1(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) AGAAAAGATTGGAACTAGGTCAGCTGA 0.430 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 14 9 --- --- --- --- SMC5 23137 broad.mit.edu 37 9 72933829 72933830 + Frame_Shift_Del DEL AA AA - TCGA-YL-A9WI-01A-11D-A377-08 TCGA-YL-A9WI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a091da3-c073-477b-9381-2ca4d27d82f3 34e9198a-0d9e-4624-9f78-4b09ec5f2a6c g.chr9:72933829_72933830delAA ENST00000361138.5 + 15 2158_2159 c.2100_2101delAA c.(2098-2103)agaaaafs p.K701fs NM_015110.3 NP_055925.2 Q8IY18 SMC5_HUMAN structural maintenance of chromosomes 5 701 DNA recombination|DNA repair chromosome|nucleus ATP binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4) 35 TTCTTGAGAGAAAAACCAAGAA 0.401 26 35 --- --- --- ---