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 ASTN2 23245 broad.mit.edu 37 9 119770423 119770423 + Silent SNP G G A TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr9:119770423G>A ENST00000313400.4 - 7 1639 c.1539C>T c.(1537-1539)ctC>ctT p.L513L ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Silent_p.L513L|ASTN2_ENST00000361209.2_Silent_p.L462L O75129 ASTN2_HUMAN astrotactin 2 513 EGF-like 1. 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 TTTGTCCACAGAGGTCCCTCA 0.582000 10 77 0 0 0.008291 0 0 IGSF1 3547 broad.mit.edu 37 X 130411859 130411859 + Missense_Mutation SNP G G C TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chrX:130411859G>C ENST00000370904.1 - 19 3174 c.2264C>G c.(2263-2265)cCc>cGc p.P755R IGSF1_ENST00000370903.3_Missense_Mutation_p.P769R|IGSF1_ENST00000370910.1_Missense_Mutation_p.P755R|IGSF1_ENST00000361420.3_Missense_Mutation_p.P764R Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 764 Ig-like C2-type 7. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 CGGCTCACTGGGCTCAGACCA 0.527000 7 112 0 0 0.001984 0 0 AGAP10 728127 broad.mit.edu 37 10 47207813 47207813 + Splice_Site SNP T T C TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr10:47207813T>C ENST00000355232.3 - 5 3482 c.471_splice c.e5+1 p.H157_splice RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.H228R(20) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TTTACTTACATGGTTTGTACA 0.294000 3 44 0 0 0.004672 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77401462 77401462 + Silent SNP G G A rs113746494 TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr16:77401462G>A ENST00000282849.5 - 4 1072 c.654C>T c.(652-654)ccC>ccT p.P218P ADAMTS18_ENST00000567121.1_5'UTR NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 218 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.G216_G219del(1) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 GGCCAGAGCCGGGGTAGCCAC 0.552000 5 107 0 0 0.000602 0 0 PZP 5858 broad.mit.edu 37 12 9355129 9355129 + Missense_Mutation SNP C C T TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr12:9355129C>T ENST00000261336.2 - 3 447 c.419G>A c.(418-420)gGa>gAa p.G140E NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 ACCTGTCTGTCCTGGTTTATA 0.498000 7 163 0 0 0.001984 0 0 CXXC4 80319 broad.mit.edu 37 4 105412390 105412390 + Silent SNP C C T TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr4:105412390C>T ENST00000394767.2 - 2 1020 c.570G>A c.(568-570)ttG>ttA p.L190L CXXC4_ENST00000426831.1_Silent_p.L21L|AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000466963.1_Intron NM_025212.2 NP_079488.2 Q9H2H0 CXXC4_HUMAN CXXC finger protein 4 21 negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) TTGCCATTTGCAACGACGGCT 0.617000 16 306 0 0 0.004990 0 0 DLC1 10395 broad.mit.edu 37 8 12948874 12948874 + Missense_Mutation SNP T T A TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr8:12948874T>A ENST00000276297.4 - 14 4217 c.3808A>T c.(3808-3810)Act>Tct p.T1270S DLC1_ENST00000520226.1_Missense_Mutation_p.T759S|DLC1_ENST00000512044.2_Missense_Mutation_p.T867S|DLC1_ENST00000358919.2_Missense_Mutation_p.T833S|DLC1_ENST00000510318.1_5'UTR NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 1270 Rho-GAP. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 AGCCCTTGAGTGGCAGCTAGG 0.423000 30 81 0 0 0.002096 0 0 RP11-483E23.2 0 broad.mit.edu 37 15 28599954 28599954 + RNA SNP A A G rs144345425 by1000genomes TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr15:28599954A>G ENST00000568624.1 - 0 452 GGCTGTAGTAAAGTGCCATCT 0.478000 3 54 0 0 0.004672 0 0 TOMM40 10452 broad.mit.edu 37 19 45397111 45397111 + Silent SNP C C T TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr19:45397111C>T ENST00000592434.1 + 5 603 c.510C>T c.(508-510)ccC>ccT p.P170P TOMM40_ENST00000252487.5_Silent_p.P170P|TOMM40_ENST00000426677.2_Silent_p.P170P|TOMM40_ENST00000405636.2_Silent_p.P170P O96008 TOM40_HUMAN translocase of outer mitochondrial membrane 40 homolog (yeast) 170 protein targeting to mitochondrion integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1) 5 Lung NSC(12;0.0018)|all_lung(12;0.00481) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176) AGCTGGGCCCCGGTCTCAGGT 0.647000 20 42 0 0 0.008871 0 0 AMY2A 279 broad.mit.edu 37 1 104160681 104160681 + Missense_Mutation SNP G G A TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr1:104160681G>A ENST00000414303.2 + 2 338 c.274G>A c.(274-276)Gat>Aat p.D92N NM_000699.2 NP_000690.1 P04746 AMYP_HUMAN amylase, alpha 2A (pancreatic) 92 carbohydrate catabolic process|polysaccharide digestion extracellular space alpha-amylase activity|calcium ion binding|chloride ion binding endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111) Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085) TGGAAATGAAGATGAATTTAG 0.353000 7 181 0 0 0.001984 0 0 ZNF254 9534 broad.mit.edu 37 19 24310503 24310503 + Missense_Mutation SNP T T G TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr19:24310503T>G ENST00000357002.4 + 4 1816 c.1701T>G c.(1699-1701)atT>atG p.I567M ZNF254_ENST00000342944.6_Missense_Mutation_p.I482M NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 567 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) ATAAGAGAATTCATACTGGAG 0.333000 13 33 0 0 0.002450 0 0 FAM155A 728215 broad.mit.edu 37 13 108518546 108518546 + Silent SNP G G C TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr13:108518546G>C ENST00000375915.2 - 1 537 c.399C>G c.(397-399)ccC>ccG p.P133P NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 133 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 CTCCCGGGGAGGGGGGCAGGG 0.721000 8 20 0 0 0.000978 0 0 PDZRN4 29951 broad.mit.edu 37 12 41966431 41966431 + Missense_Mutation SNP T T C TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr12:41966431T>C ENST00000298919.7 + 10 1458 c.1070T>C c.(1069-1071)aTt>aCt p.I357T PDZRN4_ENST00000539469.2_Missense_Mutation_p.I359T|PDZRN4_ENST00000402685.2_Missense_Mutation_p.I617T Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 617 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TCAGACTGCATTGGCAACCCA 0.473000 20 60 0 0 0.001523 0 0 GGA2 23062 broad.mit.edu 37 16 23498084 23498084 + Missense_Mutation SNP G G T TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr16:23498084G>T ENST00000309859.4 - 7 689 c.607C>A c.(607-609)Cac>Aac p.H203N GGA2_ENST00000567468.1_Missense_Mutation_p.H203N NM_015044.4 NP_055859.1 Q9UJY4 GGA2_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 2 203 GAT. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network ADP-ribosylation factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1) 21 GBM - Glioblastoma multiforme(48;0.0386) TCCTCGGGGTGGTTGCTCTTT 0.507000 68 214 2.40655e-23 4.48117e-23 0.003610 1 0 FAM207A 85395 broad.mit.edu 37 21 46363721 46363721 + Silent SNP G G A TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr21:46363721G>A ENST00000291634.6 + 2 300 c.252G>A c.(250-252)tcG>tcA p.S84S FAM207A_ENST00000397826.3_Intron NM_058190.2 NP_478070.1 Q9NSI2 CU070_HUMAN family with sequence similarity 207, member A 84 AGGCAGGCTCGAGTGCACGGA 0.602000 18 53 0 0 0.006122 0 0 IL23R 149233 broad.mit.edu 37 1 67705965 67705965 + Splice_Site SNP G G A TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr1:67705965G>A ENST00000347310.5 + 9 1319 c.e9+1 IL23R_ENST00000473881.1_Intron|IL23R_ENST00000395227.1_Splice_Site|IL23R_ENST00000371002.1_Intron NM_144701.2 NP_653302.2 Q5VWK5 IL23R_HUMAN interleukin 23 receptor inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide interleukin-23 receptor complex receptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 21 TCCGAACTGGGTAGGTTTTTG 0.323000 4 38 0 0 0.000248 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211648 78211648 + RNA SNP A A G TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr15:78211648A>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CGCCAGGGATAGGGGCTCAGC 0.522000 4 89 0 0 0.000602 0 0 PLEK 5341 broad.mit.edu 37 2 68608012 68608012 + Missense_Mutation SNP G G A rs144599110 TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr2:68608012G>A ENST00000234313.7 + 3 535 c.356G>A c.(355-357)cGa>cAa p.R119Q NM_002664.2 NP_002655.2 P08567 PLEK_HUMAN pleckstrin 119 actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 24 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) AGGTCCATTCGACTGCCAGAA 0.458000 6 237 0 0 0.001984 0 0 TSHR 7253 broad.mit.edu 37 14 81609760 81609760 + Missense_Mutation SNP T T C rs121908864 TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr14:81609760T>C ENST00000541158.2 + 11 1680 c.1358T>C c.(1357-1359)aTg>aCg p.M453T RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.M453T P16473 TSHR_HUMAN thyroid stimulating hormone receptor 453 M -> T (in HTNA; sporadic; found in toxic thyroid nodules and hyperfunctioning thyroid adenomas). cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity p.M453T(28) breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) CGCTTTCTCATGTGCAACCTG 0.527000 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 52 105 0 0 0.003610 0 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 3 91 0 0 0.004672 0 0 PEX1 5189 broad.mit.edu 37 7 92120650 92120650 + Missense_Mutation SNP A A G TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr7:92120650A>G ENST00000248633.4 - 21 3469 c.3374T>C c.(3373-3375)aTg>aCg p.M1125T PEX1_ENST00000438045.1_Missense_Mutation_p.M803T|PEX1_ENST00000428214.1_Missense_Mutation_p.M1068T|AC007566.10_ENST00000427458.1_RNA NM_000466.2 NP_000457.1 O43933 PEX1_HUMAN peroxisomal biogenesis factor 1 1125 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) GAGCCGGTACATATTGAATTT 0.408000 3 116 0 0 0.000602 0 0 STAT4 6775 broad.mit.edu 37 2 191900911 191900911 + Missense_Mutation SNP T T A TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr2:191900911T>A ENST00000392320.2 - 17 1863 c.1549A>T c.(1549-1551)Atg>Ttg p.M517L STAT4_ENST00000470708.1_5'UTR|STAT4_ENST00000358470.4_Missense_Mutation_p.M517L NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 517 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) TCTGCCAGCATATGGAGTTGA 0.458000 6 81 0 0 0.003080 0 0 OR4C11 219429 broad.mit.edu 37 11 55371142 55371142 + Silent SNP G G A rs146621611 byFrequency TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr11:55371142G>A ENST00000302231.4 - 1 732 c.708C>T c.(706-708)tcC>tcT p.S236S NM_001004700.2 NP_001004700.2 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, member 11 236 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33 ACGTGCAAGCGGAGAGAGCCT 0.413000 4 113 0 0 0.000248 0 0 GTF2IRD1P1 0 broad.mit.edu 37 7 66304731 66304731 + RNA DEL T T - TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr7:66304731delT ENST00000457166.1 - 0 189 NR_003934.1 TTTCTTTCCCttttttttttt 0.512 4 5 --- --- --- --- CUX1 1523 broad.mit.edu 37 7 101892133 101892135 + In_Frame_Del DEL CAG CAG - TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr7:101892133_101892135delCAG ENST00000360264.3 + 24 4382_4384 c.4362_4364delCAG c.(4360-4365)aac>aa p.NS1454del CUX1_ENST00000292535.7_In_Frame_Del_p.NS1443del|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000556210.1_In_Frame_Del_p.NS1285del|CUX1_ENST00000550008.2_In_Frame_Del_p.NS1387del|CUX1_ENST00000549414.2_In_Frame_Del_p.NS1421del|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_In_Frame_Del_p.NS1341del|CUX1_ENST00000560541.1_Intron NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 1443 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 CGCCCAGCAACAGCAGCAGCAGC 0.823 2 4 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118396277 118396277 + RNA DEL G G - rs148140777 by1000genomes TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr10:118396277delG ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GACAAATTATGGTTTTTTTTT 0.423 6 8 --- --- --- --- ZNF624 57547 broad.mit.edu 37 17 16527226 16527227 + Frame_Shift_Ins INS - - T TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr17:16527226_16527227insT ENST00000311331.7 - 6 1064_1065 c.973_974insA c.(973-975)ccafs p.P325fs NM_020787.3 NP_065838.2 Q9P2J8 ZN624_HUMAN zinc finger protein 624 325 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 26 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) TCCAGTGTGGATTTTTTTGTGC 0.351 29 90 --- --- --- ---