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 CCDC157 550631 broad.mit.edu 37 22 30762123 30762123 + Missense_Mutation SNP G G A TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b 9a41f5ef-4649-44de-883f-c7c0c4ee5de4 g.chr22:30762123G>A ENST00000405659.1 + 3 843 c.134G>A c.(133-135)cGc>cAc p.R45H CCDC157_ENST00000399824.2_Missense_Mutation_p.R45H|CCDC157_ENST00000338306.3_Missense_Mutation_p.R45H Q569K6 CC157_HUMAN coiled-coil domain containing 157 45 central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1) 15 TTCCCTGACCGCATGGCCTGT 0.652000 4 147 0 0 1 0 0 WLS 79971 broad.mit.edu 37 1 68614298 68614298 + Missense_Mutation SNP C C T TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b 9a41f5ef-4649-44de-883f-c7c0c4ee5de4 g.chr1:68614298C>T ENST00000262348.4 - 7 1271 c.1018G>A c.(1018-1020)Gga>Aga p.G340R WLS_ENST00000540432.1_Missense_Mutation_p.G340R|WLS_ENST00000370976.3_Missense_Mutation_p.G249R|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000354777.2_Missense_Mutation_p.G338R|WLS_ENST00000491811.1_5'UTR|GNG12-AS1_ENST00000420587.1_RNA NM_024911.6 NP_079187.3 Q5T9L3 WLS_HUMAN wntless Wnt ligand secretion mediator 340 multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway cytoplasmic vesicle membrane|Golgi membrane|integral to membrane signal transducer activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1) 20 GCAATGGGTCCGACTTGCTTC 0.512000 4 19 0 0 1 0 0 HDAC5 10014 broad.mit.edu 37 17 42169758 42169758 + Missense_Mutation SNP C C A rs140895306 TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b 9a41f5ef-4649-44de-883f-c7c0c4ee5de4 g.chr17:42169758C>A ENST00000225983.6 - 8 1236 c.913G>T c.(913-915)Ggg>Tgg p.G305W HDAC5_ENST00000586802.1_Missense_Mutation_p.G304W|HDAC5_ENST00000393622.2_Missense_Mutation_p.G304W|HDAC5_ENST00000336057.5_Missense_Mutation_p.G304W Q9UQL6 HDAC5_HUMAN histone deacetylase 5 304 B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 21 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) CCCCCAGGCCCGGCACCTGTG 0.582000 4 58 0.150653 0.150653 1 1 0 FOXA1 3169 broad.mit.edu 37 14 38061208 38061208 + Missense_Mutation SNP G G A TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b 9a41f5ef-4649-44de-883f-c7c0c4ee5de4 g.chr14:38061208G>A ENST00000250448.2 - 2 842 c.781C>T c.(781-783)Cgc>Tgc p.R261C FOXA1_ENST00000540786.1_Missense_Mutation_p.R228C|FOXA1_ENST00000545425.2_5'UTR NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 261 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 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) TTCTGGCGGCGCAAGTAGCAG 0.716000 7 10 0 0 1 0 0 PTPN4 5775 broad.mit.edu 37 2 120567473 120567473 + Missense_Mutation SNP T T A TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b 9a41f5ef-4649-44de-883f-c7c0c4ee5de4 g.chr2:120567473T>A ENST00000263708.2 + 2 815 c.44T>A c.(43-45)gTa>gAa p.V15E NM_002830.3 NP_002821.1 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) 15 cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1) 30 Alendronate(DB00630) ACCTACAATGTACGAGCATCA 0.403000 3 51 0 0 1 0 0 THSD4 79875 broad.mit.edu 37 15 71952952 71952952 + Missense_Mutation SNP G G T TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b 9a41f5ef-4649-44de-883f-c7c0c4ee5de4 g.chr15:71952952G>T ENST00000355327.3 + 8 1370 c.1236G>T c.(1234-1236)caG>caT p.Q412H THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.Q52H|THSD4_ENST00000261862.6_Missense_Mutation_p.Q412H Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 412 proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 CGGGCTGTCAGGTTGTGTCGG 0.542000 46 104 2.24722e-20 2.52127e-20 1 1 0 BPTF 2186 broad.mit.edu 37 17 65907564 65907564 + Silent SNP C C T TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b 9a41f5ef-4649-44de-883f-c7c0c4ee5de4 g.chr17:65907564C>T ENST00000321892.4 + 13 4003 c.3942C>T c.(3940-3942)gaC>gaT p.D1314D BPTF_ENST00000424123.3_Silent_p.D1175D|BPTF_ENST00000306378.6_Silent_p.D1188D|BPTF_ENST00000335221.5_Silent_p.D1314D Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1314 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TTGAAAATGACATAGAAGAAA 0.378000 13 10 0 0 1 0 0 HTR1E 3354 broad.mit.edu 37 6 87726074 87726074 + Missense_Mutation SNP C C T TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b 9a41f5ef-4649-44de-883f-c7c0c4ee5de4 g.chr6:87726074C>T ENST00000305344.4 + 2 1725 c.1022C>T c.(1021-1023)cCt>cTt p.P341L HTR1E_ENST00000369584.1_Missense_Mutation_p.P341L NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 341 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) CTGATCAACCCTCTGCTCTAT 0.433000 50 73 0 0 1 0 0 OR2W5 0 broad.mit.edu 37 1 247654714 247654714 + RNA SNP C C T TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b 9a41f5ef-4649-44de-883f-c7c0c4ee5de4 g.chr1:247654714C>T ENST00000522351.1 + 0 345 A6NFC9 OR2W5_HUMAN sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H95H(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4) 39 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) TCACCTACCACGGCTGTGTGG 0.557000 5 68 0 0 1 0 0 HLCS 3141 broad.mit.edu 37 21 38311178 38311178 + Silent SNP T T C TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b 9a41f5ef-4649-44de-883f-c7c0c4ee5de4 g.chr21:38311178T>C ENST00000399120.1 - 4 1236 c.6A>G c.(4-6)gaA>gaG p.E2E HLCS_ENST00000336648.3_Silent_p.E2E NM_001242784.1 NP_001229713.1 P50747 BPL1_HUMAN holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) 2 cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) GGAGTCTATCTTCCATGAACG 0.458000 32 48 0 0 1 0 0 NCF4 4689 broad.mit.edu 37 22 37263465 37263465 + Silent SNP C C T TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b 9a41f5ef-4649-44de-883f-c7c0c4ee5de4 g.chr22:37263465C>T ENST00000397147.4 + 4 487 c.303C>T c.(301-303)atC>atT p.I101I CTA-833B7.2_ENST00000431290.1_RNA|CTA-833B7.2_ENST00000330602.2_RNA|NCF4_ENST00000248899.6_Silent_p.I101I NM_013416.3 NP_038202.2 Q15080 NCF4_HUMAN neutrophil cytosolic factor 4, 40kDa 101 PX. cell communication|immune response|oxidation-reduction process cytosol|NADPH oxidase complex phosphatidylinositol binding|protein dimerization activity cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 AACAGGAGATCGCCGAGATGC 0.607000 14 32 0 0 1 0 0 USP8 9101 broad.mit.edu 37 15 50788105 50788105 + Missense_Mutation SNP G G T TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b 9a41f5ef-4649-44de-883f-c7c0c4ee5de4 g.chr15:50788105G>T ENST00000433963.1 + 18 3219 c.2719G>T c.(2719-2721)Gca>Tca p.A907S RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000396444.3_Missense_Mutation_p.A907S|USP8_ENST00000425032.3_Missense_Mutation_p.A801S|USP8_ENST00000307179.4_Missense_Mutation_p.A907S NM_001128611.1 NP_001122083.1 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 907 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) CTTTAAAGCTGCAGAACATGC 0.353000 17 19 1.02788e-11 1.12578e-11 1 1 0 ZRSR1 7310 broad.mit.edu 37 5 112228018 112228018 + Missense_Mutation SNP G G A TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b 9a41f5ef-4649-44de-883f-c7c0c4ee5de4 g.chr5:112228018G>A ENST00000391338.1 + 1 706 c.682G>A c.(682-684)Gca>Aca p.A228T REEP5_ENST00000379638.4_Intron|REEP5_ENST00000545426.1_Intron|REEP5_ENST00000474542.2_Intron|SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000513339.1_Intron NM_001204199.1 NP_001191128.1 zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1 breast(1)|skin(1)|stomach(2) 4 TGACCCTGACGCAAGCCTGGA 0.448000 7 67 0 0 1 0 0 MRO 83876 broad.mit.edu 37 18 48333127 48333127 + Missense_Mutation SNP G G A TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b 9a41f5ef-4649-44de-883f-c7c0c4ee5de4 g.chr18:48333127G>A ENST00000428869.2 - 5 451 c.193C>T c.(193-195)Cgt>Tgt p.R65C MRO_ENST00000398439.3_Missense_Mutation_p.R65C|MRO_ENST00000436348.2_Missense_Mutation_p.R79C|MRO_ENST00000256425.2_Missense_Mutation_p.R65C|MRO_ENST00000588444.1_Missense_Mutation_p.R65C|MRO_ENST00000431965.2_Missense_Mutation_p.R79C|MRO_ENST00000587291.1_Intron Q9BYG7 MSTRO_HUMAN maestro 65 nucleolus binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2) 10 Colorectal(6;0.0596) Colorectal(21;0.082) GCCATGTGACGCTTTTTAGCA 0.542000 12 121 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212779 26212779 + Missense_Mutation SNP T T A TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b 9a41f5ef-4649-44de-883f-c7c0c4ee5de4 g.chrX:26212779T>A ENST00000379034.1 + 2 965 c.816T>A c.(814-816)agT>agA p.S272R NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 272 MAGE. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 GCCTCCCCAGTGAAGGAATTC 0.532000 51 11 0 0 1 0 0 PRPF19 27339 broad.mit.edu 37 11 60658695 60658695 + Silent SNP G G A TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b 9a41f5ef-4649-44de-883f-c7c0c4ee5de4 g.chr11:60658695G>A ENST00000227524.4 - 16 1663 c.1458C>T c.(1456-1458)caC>caT p.H486H NM_014502.4 NP_055317.1 Q9UMS4 PRP19_HUMAN pre-mRNA processing factor 19 486 DNA repair|protein polyubiquitination|spliceosome assembly catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity p.H486H(1) haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 22 TGAACTTGGCGTGATGCCCGA 0.542000 13 20 0 0 1 0 0 PTCH1 5727 broad.mit.edu 37 9 98222052 98222052 + Missense_Mutation SNP C C T TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b 9a41f5ef-4649-44de-883f-c7c0c4ee5de4 g.chr9:98222052C>T ENST00000430669.2 - 17 3104 c.2519G>A c.(2518-2520)cGt>cAt p.R840H PTCH1_ENST00000437951.1_Missense_Mutation_p.R840H|PTCH1_ENST00000421141.1_Missense_Mutation_p.R755H|PTCH1_ENST00000331920.6_Missense_Mutation_p.R906H|PTCH1_ENST00000418258.1_Missense_Mutation_p.R755H|PTCH1_ENST00000375274.2_Missense_Mutation_p.R905H|PTCH1_ENST00000429896.2_Missense_Mutation_p.R755H Q13635 PTC1_HUMAN patched 1 906 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) ATCCACCAGACGCTGTTTAGT 0.537000 4 31 0 0 1 0 0 PRICKLE1 0 broad.mit.edu 37 12 42860182 42860182 + Splice_Site SNP T T C TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b 9a41f5ef-4649-44de-883f-c7c0c4ee5de4 g.chr12:42860182T>C ENST00000455697.1 - 6 874 c.588_splice c.e6-1 p.I197_splice PRICKLE1_ENST00000345127.3_Splice_Site_p.I197_splice|PRICKLE1_ENST00000548696.1_Splice_Site_p.I197_splice|PRICKLE1_ENST00000552240.1_Splice_Site_p.I197_splice|PRICKLE1_ENST00000445766.2_Splice_Site_p.I197_splice NM_001144882.1|NM_001144883.1 NP_001138354.1|NP_001138355.1 Q96MT3 PRIC1_HUMAN prickle homolog 1 (Drosophila) 197 LIM zinc-binding 2. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) GCAAAAATTATCTTCAAAAAG 0.433000 19 21 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62813870 62813870 + Missense_Mutation SNP G G A TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b 9a41f5ef-4649-44de-883f-c7c0c4ee5de4 g.chr4:62813870G>A ENST00000512091.1 + 16 3224 c.2477G>A c.(2476-2478)cGt>cAt p.R826H LPHN3_ENST00000509896.1_Missense_Mutation_p.R894H|LPHN3_ENST00000514591.1_Missense_Mutation_p.R826H|LPHN3_ENST00000545650.1_Missense_Mutation_p.R826H|LPHN3_ENST00000508693.1_Missense_Mutation_p.R894H|LPHN3_ENST00000507164.1_Missense_Mutation_p.R894H|LPHN3_ENST00000508946.1_Missense_Mutation_p.R826H|LPHN3_ENST00000514996.1_Missense_Mutation_p.R826H|LPHN3_ENST00000507625.1_Missense_Mutation_p.R894H|LPHN3_ENST00000506700.1_Missense_Mutation_p.R826H|LPHN3_ENST00000506746.1_Missense_Mutation_p.R894H|LPHN3_ENST00000504896.1_Missense_Mutation_p.R826H|LPHN3_ENST00000514157.1_Missense_Mutation_p.R826H|LPHN3_ENST00000506720.1_Missense_Mutation_p.R894H|LPHN3_ENST00000511324.1_Missense_Mutation_p.R894H Q9HAR2 LPHN3_HUMAN latrophilin 3 813 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding p.R826H(3) breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 TACTCCAAGCGTACAATGACA 0.383000 11 13 0 0 1 0 0 SLC5A10 125206 broad.mit.edu 37 17 18923109 18923109 + Silent SNP C C T TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b 9a41f5ef-4649-44de-883f-c7c0c4ee5de4 g.chr17:18923109C>T ENST00000317977.6 + 13 1975 c.1404C>T c.(1402-1404)tgC>tgT p.C468C SLC5A10_ENST00000395642.1_Silent_p.C468C|SLC5A10_ENST00000417251.2_Silent_p.C462C|SLC5A10_ENST00000395647.2_Silent_p.C514C|SLC5A10_ENST00000395645.3_Silent_p.C498C|SLC5A10_ENST00000395643.2_Silent_p.C471C A0PJK1 SC5AA_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 10 498 sodium ion transport|transmembrane transport integral to membrane transporter activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3) 24 CCCCACCGTGCGGAGAGCCAG 0.667000 9 7 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b 9a41f5ef-4649-44de-883f-c7c0c4ee5de4 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 4 73 0 0 1 0 0 UHRF2 115426 broad.mit.edu 37 9 6504676 6504676 + Silent SNP C C T TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b 9a41f5ef-4649-44de-883f-c7c0c4ee5de4 g.chr9:6504676C>T ENST00000276893.5 + 15 2415 c.2247C>T c.(2245-2247)ttC>ttT p.F749F UHRF2_ENST00000485617.2_3'UTR NM_152896.2 NP_690856.1 Q96PU4 UHRF2_HUMAN ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase 749 cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process nucleus DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1) 17 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129) CTGAGTGCTTCCACAATGTCT 0.383000 9 11 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27688043 27688043 + Missense_Mutation SNP A A G TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b 9a41f5ef-4649-44de-883f-c7c0c4ee5de4 g.chr10:27688043A>G ENST00000438700.3 - 4 1601 c.1484T>C c.(1483-1485)aTc>aCc p.I495T NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 495 SSD. spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 GATGTTAGTGATGGTGGTGAT 0.403000 30 42 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103468003 103468003 + Missense_Mutation SNP T T A TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b 9a41f5ef-4649-44de-883f-c7c0c4ee5de4 g.chr1:103468003T>A ENST00000358392.2 - 23 2431 c.2114A>T c.(2113-2115)cAa>cTa p.Q705L COL11A1_ENST00000353414.4_Missense_Mutation_p.Q654L|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Missense_Mutation_p.Q577L|COL11A1_ENST00000370096.3_Missense_Mutation_p.Q693L NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 693 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TGGATTCCCTTGTTGACCTGG 0.433000 7 11 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G rs121913279 TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b 9a41f5ef-4649-44de-883f-c7c0c4ee5de4 g.chr3:178952085A>G ENST00000263967.3 + 21 3297 c.3140A>G c.(3139-3141)cAt>cGt p.H1047R NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1047 PI3K/PI4K. H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.H1047R(1387)|p.H1047L(194)|p.H1047P(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AATGATGCACATCATGGTGGC 0.378000 H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 22 41 0 0 1 0 0 AMER3 205147 broad.mit.edu 37 2 131521766 131521766 + Silent SNP G G A TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b 9a41f5ef-4649-44de-883f-c7c0c4ee5de4 g.chr2:131521766G>A ENST00000423981.1 + 2 2231 c.2121G>A c.(2119-2121)ggG>ggA p.G707G AMER3_ENST00000321420.4_Silent_p.G707G NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 GGCTCTTTGGGCAGCGCTGGG 0.642000 5 26 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43913222 43913222 + Nonsense_Mutation SNP T T A TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b 9a41f5ef-4649-44de-883f-c7c0c4ee5de4 g.chr1:43913222T>A ENST00000562955.1 + 66 9122 c.9122T>A c.(9121-9123)tTg>tAg p.L3041* SZT2_ENST00000372442.1_Nonsense_Mutation_p.L2199* NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 3098 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 TCAGGGACATTGGAGCTCCCC 0.552000 29 47 0 0 1 0 0 CELF1 10658 broad.mit.edu 37 11 47493882 47493882 + Missense_Mutation SNP G G A TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b 9a41f5ef-4649-44de-883f-c7c0c4ee5de4 g.chr11:47493882G>A ENST00000395290.2 - 12 1367 c.1358C>T c.(1357-1359)tCg>tTg p.S453L CELF1_ENST00000361904.3_Missense_Mutation_p.S451L|CELF1_ENST00000531165.1_Missense_Mutation_p.S482L|CELF1_ENST00000358597.3_Missense_Mutation_p.S454L|CELF1_ENST00000532048.1_Missense_Mutation_p.S480L|CELF1_ENST00000539455.1_5'UTR|CELF1_ENST00000395292.2_Missense_Mutation_p.S451L|CELF1_ENST00000310513.5_Missense_Mutation_p.S450L NM_001025596.2|NM_001172640.1 NP_001020767.1|NP_001166111.1 Q92879 CELF1_HUMAN CUGBP, Elav-like family member 1 454 RRM 3. embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference cytoplasm|nucleus|ribonucleoprotein complex BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2) 18 AGCTTGGGCCGAAACAGGATT 0.483000 4 145 0 0 1 0 0 KIF13A 63971 broad.mit.edu 37 6 17855689 17855689 + Missense_Mutation SNP C C T TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b 9a41f5ef-4649-44de-883f-c7c0c4ee5de4 g.chr6:17855689C>T ENST00000378814.5 - 6 472 c.473G>A c.(472-474)cGg>cAg p.R158Q KIF13A_ENST00000378843.2_Missense_Mutation_p.R158Q|KIF13A_ENST00000259711.6_Missense_Mutation_p.R158Q|KIF13A_ENST00000378816.5_Missense_Mutation_p.R158Q|KIF13A_ENST00000378826.2_Missense_Mutation_p.R158Q NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 158 Kinesin-motor. cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TAAAAGATCCCGAACTTTCTC 0.338000 3 59 0 0 1 0 0 ATOH1 474 broad.mit.edu 37 4 94750559 94750559 + Missense_Mutation SNP G G A TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b 9a41f5ef-4649-44de-883f-c7c0c4ee5de4 g.chr4:94750559G>A ENST00000306011.3 + 1 518 c.482G>A c.(481-483)cGg>cAg p.R161Q NM_005172.1 NP_005163.1 Q92858 ATOH1_HUMAN atonal homolog 1 (Drosophila) 161 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 11 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.57e-07) AAGCAGAGACGGCTAGCAGCC 0.617000 29 26 0 0 1 0 0 ZNF408 79797 broad.mit.edu 37 11 46726592 46726592 + Missense_Mutation SNP C C T TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b 9a41f5ef-4649-44de-883f-c7c0c4ee5de4 g.chr11:46726592C>T ENST00000311764.2 + 5 1572 c.1342C>T c.(1342-1344)Cgc>Tgc p.R448C NM_001184751.1|NM_024741.2 NP_001171680.1|NP_079017.1 Q9H9D4 ZN408_HUMAN zinc finger protein 408 448 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GGCCTTTGCCCGCCGGCCCTC 0.672000 9 80 0 0 1 0 0 MED24 9862 broad.mit.edu 37 17 38182576 38182576 + Silent SNP A A C TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b 9a41f5ef-4649-44de-883f-c7c0c4ee5de4 g.chr17:38182576A>C ENST00000394126.1 - 18 2311 c.1893T>G c.(1891-1893)acT>acG p.T631T MED24_ENST00000394128.2_Silent_p.T606T|MED24_ENST00000394127.2_Silent_p.T593T|MED24_ENST00000356271.3_Silent_p.T593T|MED24_ENST00000501516.3_Silent_p.T625T O75448 MED24_HUMAN mediator complex subunit 24 606 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 41 Colorectal(19;0.000442) TGATGTTATCAGTGATTTTCT 0.557000 39 63 0 0 1 0 0 EFCC1 79825 broad.mit.edu 37 3 128758620 128758620 + Silent SNP T T C TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b 9a41f5ef-4649-44de-883f-c7c0c4ee5de4 g.chr3:128758620T>C ENST00000436022.2 + 8 1726 c.415T>C c.(415-417)Ttg>Ctg p.L139L EFCC1_ENST00000480450.1_Silent_p.L576L NM_024768.2 NP_079044.2 EF-hand and coiled-coil domain containing 1 CTGCCAGCTGTTGCGGAGACA 0.667000 6 85 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73828485 73828485 + Silent SNP C C T TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b 9a41f5ef-4649-44de-883f-c7c0c4ee5de4 g.chr2:73828485C>T ENST00000264448.6 + 19 12144 c.12033C>T c.(12031-12033)gaC>gaT p.D4011D ALMS1_ENST00000409009.1_Silent_p.D3969D|ALMS1_ENST00000464408.2_3'UTR NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 4011 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 AGCACCTGGACGGTCGGGGCT 0.592000 34 52 0 0 1 0 0 TLR10 81793 broad.mit.edu 37 4 38776169 38776169 + Missense_Mutation SNP G G A TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b 9a41f5ef-4649-44de-883f-c7c0c4ee5de4 g.chr4:38776169G>A ENST00000308973.4 - 4 1648 c.1043C>T c.(1042-1044)aCg>aTg p.T348M TLR10_ENST00000361424.2_Missense_Mutation_p.T348M|TLR10_ENST00000508334.1_Missense_Mutation_p.T348M|TLR10_ENST00000506111.1_Missense_Mutation_p.T348M NM_001017388.2|NM_001195107.1|NM_030956.3 NP_001017388.1|NP_001182036.1|NP_112218.2 Q9BXR5 TLR10_HUMAN toll-like receptor 10 348 inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 TTGGAATTTCGTAGGATAATT 0.333000 38 46 0 0 1 0 0 TNRC18 84629 broad.mit.edu 37 7 5352528 5352530 + In_Frame_Del DEL GAG GAG - TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b 9a41f5ef-4649-44de-883f-c7c0c4ee5de4 g.chr7:5352528_5352530delGAG ENST00000399537.4 - 27 8340_8342 c.7992_7994delCTC c.(7990-7995)tct>tc p.SS2670del TNRC18_ENST00000430969.1_In_Frame_Del_p.SS2670del O15417 TNC18_HUMAN trinucleotide repeat containing 18 2670 Ser-rich. DNA binding p.S2671delS(2)|p.P1177delP(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) agaggaggaagaggaggaggagg 0.640 2 4 --- --- --- --- TPTE2P6 0 broad.mit.edu 37 13 25157747 25157748 + RNA INS - - T rs144668552 by1000genomes TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b 9a41f5ef-4649-44de-883f-c7c0c4ee5de4 g.chr13:25157747_25157748insT ENST00000453498.1 + 0 554 AAAATGGGAGGTTTTTTTAGGG 0.411 2 4 --- --- --- ---