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 XIRP2 129446 broad.mit.edu 37 2 168099892 168099892 + Missense_Mutation SNP G G A TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr2:168099892G>A ENST00000409195.1 + 9 2079 c.1990G>A c.(1990-1992)Gac>Aac p.D664N XIRP2_ENST00000295237.9_Missense_Mutation_p.D664N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D442N|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 489 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 AAGGCCATTGGACTCAATGAA 0.428000 37 53 0 0 1 0 0 FAM63A 55793 broad.mit.edu 37 1 150974945 150974945 + Missense_Mutation SNP C C T TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr1:150974945C>T ENST00000361936.5 - 3 1103 c.149G>A c.(148-150)cGg>cAg p.R50Q FAM63A_ENST00000312210.5_Intron|FAM63A_ENST00000493834.2_Intron|FAM63A_ENST00000361738.6_Missense_Mutation_p.R98Q|FAM63A_ENST00000470877.1_Intron NM_018379.4 NP_060849.2 Q8N5J2 FA63A_HUMAN family with sequence similarity 63, member A 50 protein binding p.R50Q(1) breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TGCTGGCTCCCGTTCTCTAGC 0.592000 51 56 0 0 1 0 0 C4orf46 201725 broad.mit.edu 37 4 159592815 159592815 + Missense_Mutation SNP C C A TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr4:159592815C>A ENST00000379205.4 - 1 383 c.139G>T c.(139-141)Ggc>Tgc p.G47C C4orf46_ENST00000508836.1_Intron|C4orf46_ENST00000508457.1_Missense_Mutation_p.G47C NM_001008393.2 NP_001008394.1 Q504U0 CD046_HUMAN chromosome 4 open reading frame 46 47 kidney(1)|lung(3)|skin(1) 5 ACCGTTGGGCCGCTGCTCCTG 0.687000 3 22 1 1 1 1 0 CSNK2A3 283106 broad.mit.edu 37 11 11373726 11373726 + Missense_Mutation SNP G G A TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr11:11373726G>A ENST00000528848.2 - 1 1178 c.941C>T c.(940-942)aCt>aTt p.T314I GALNT18_ENST00000227756.4_Intron NM_001256686.1 NP_001243615.1 casein kinase 2, alpha 3 polypeptide CTCTCTTGCAGTAAGCCGTGA 0.547000 4 77 0 0 1 0 0 POLR2E 5434 broad.mit.edu 37 19 1089510 1089510 + Missense_Mutation SNP T T C TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr19:1089510T>C ENST00000215587.7 - 7 891 c.608A>G c.(607-609)tAc>tGc p.Y203C POLR2E_ENST00000585838.1_5'UTR|POLR2E_ENST00000586746.1_Missense_Mutation_p.Y203C P19388 RPAB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide E, 25kDa 203 interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2) 11 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) GTAGGTGATGTACCTGCCAGC 0.637000 16 26 0 0 1 0 0 PLCXD2 257068 broad.mit.edu 37 3 111564682 111564682 + Missense_Mutation SNP C C A TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr3:111564682C>A ENST00000393934.3 + 4 1451 c.881C>A c.(880-882)cCa>cAa p.P294Q PLCXD2_ENST00000477665.1_3'UTR|PHLDB2_ENST00000393923.3_5'UTR NM_153268.3 NP_695000.1 Q0VAA5 PLCX2_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 2 0 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1) 17 GCACTGATCCCAGTTTATCCT 0.463000 48 68 1.11015e-26 1.21588e-26 1 1 0 SPOP 8405 broad.mit.edu 37 17 47696644 47696644 + Missense_Mutation SNP A A C TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr17:47696644A>C ENST00000393331.3 - 6 774 c.304T>G c.(304-306)Ttc>Gtc p.F102V SPOP_ENST00000504102.1_Missense_Mutation_p.F102V|SPOP_ENST00000503676.1_Missense_Mutation_p.F102V|SPOP_ENST00000393328.2_Missense_Mutation_p.F102V|SPOP_ENST00000347630.2_Missense_Mutation_p.F102V NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 102 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 GAGAATTTGAATTTTGCCCGA 0.408000 Prostate(2;0.17) 40 66 0 0 1 0 0 KLF7 8609 broad.mit.edu 37 2 207988820 207988820 + Silent SNP C C T TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr2:207988820C>T ENST00000309446.6 - 2 787 c.411G>A c.(409-411)acG>acA p.T137T KLF7_ENST00000467833.1_Intron|KLF7_ENST00000458272.1_Intron|KLF7_ENST00000421199.1_Silent_p.T104T|KLF7_ENST00000412414.2_Silent_p.T109T|KLF7_ENST00000423015.1_Silent_p.T137T NM_003709.3 NP_003700.1 O75840 KLF7_HUMAN Kruppel-like factor 7 (ubiquitous) 137 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1) 11 LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173) ACGATGGGGGCGTTAATGAGG 0.587000 19 35 0 0 1 0 0 KRTAP10-5 386680 broad.mit.edu 37 21 46000248 46000248 + Missense_Mutation SNP T T A TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr21:46000248T>A ENST00000400372.1 - 1 233 c.208A>T c.(208-210)Acg>Tcg p.T70S TSPEAR_ENST00000323084.4_Intron NM_198694.2 NP_941967.2 P60370 KR105_HUMAN keratin associated protein 10-5 70 22 X 5 AA repeats of C-C-X(3). keratin filament endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 14 cacgagggcgtgcaggAGCTG 0.706000 45 40 0 0 1 0 0 CT47B1 643311 broad.mit.edu 37 X 120007806 120007806 + Nonsense_Mutation SNP C C A TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chrX:120007806C>A ENST00000371311.3 - 2 1098 c.844G>T c.(844-846)Gaa>Taa p.E282* NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 282 breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 TTTTCTTGTTCTTTCTCTTCC 0.458000 321 30 6.69537e-141 7.69967e-141 1 1 0 ARID2 196528 broad.mit.edu 37 12 46230731 46230731 + Missense_Mutation SNP T T C TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr12:46230731T>C ENST00000334344.6 + 8 1152 c.980T>C c.(979-981)tTa>tCa p.L327S ARID2_ENST00000422737.1_Missense_Mutation_p.L178S|ARID2_ENST00000479608.1_3'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 327 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TTTATTTCTTTAAGGCAATTA 0.363000 """N, S, F""" hepatocellular carcinoma 26 53 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176564577 176564577 + Missense_Mutation SNP C C T TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr1:176564577C>T ENST00000367662.3 + 3 3001 c.1837C>T c.(1837-1839)Cgc>Tgc p.R613C PAPPA2_ENST00000367661.3_Missense_Mutation_p.R613C NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 613 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GGGTGACTGCCGCCTGCAGGG 0.587000 27 30 0 0 1 0 0 C2orf62 375307 broad.mit.edu 37 2 219232553 219232553 + Missense_Mutation SNP G G C TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr2:219232553G>C ENST00000289388.3 + 10 1059 c.1030G>C c.(1030-1032)Gtc>Ctc p.V344L AC021016.6_ENST00000441749.1_RNA|C2orf62_ENST00000481940.1_3'UTR NM_198559.1 NP_940961.1 Q7Z7H3 CB062_HUMAN chromosome 2 open reading frame 62 344 endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 16 Renal(207;0.0915) Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGAGGACGTGGTCACCTTCGC 0.701000 7 25 0 0 1 0 0 RPL12 6136 broad.mit.edu 37 9 130210646 130210646 + Missense_Mutation SNP G G A TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr9:130210646G>A ENST00000361436.5 - 5 436 c.349C>T c.(349-351)Cgg>Tgg p.R117W RPL12_ENST00000497322.1_5'UTR|RPL12_ENST00000536368.1_Missense_Mutation_p.R84W NM_000976.3 NP_000967.1 P30050 RL12_HUMAN ribosomal protein L12 117 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1) 4 GATCGGTGCCGCATCTGTCGA 0.423000 5 238 0 0 1 0 0 PDGFB 5155 broad.mit.edu 37 22 39627771 39627771 + Silent SNP G G A TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr22:39627771G>A ENST00000331163.6 - 4 1099 c.312C>T c.(310-312)ttC>ttT p.F104F PDGFB_ENST00000381551.4_Silent_p.F89F NM_002608.2 NP_002599.1 P01127 PDGFB_HUMAN platelet-derived growth factor beta polypeptide 104 activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity COL1A1/PDGFB(429) central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2) 7 Melanoma(58;0.04) Becaplermin(DB00102) GGGAGATCTCGAACACCTCGG 0.647000 T COL1A1 DFSP 14 8 0 0 1 0 0 PRDM14 63978 broad.mit.edu 37 8 70981644 70981644 + Missense_Mutation SNP G G A TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr8:70981644G>A ENST00000276594.2 - 2 653 c.452C>T c.(451-453)cCa>cTa p.P151L NM_024504.3 NP_078780.1 Q9GZV8 PRD14_HUMAN PR domain containing 14 151 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) AGGGGGCGGTGGAATTAAAGT 0.577000 46 32 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31323309 31323309 + Missense_Mutation SNP G G A TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr18:31323309G>A ENST00000269197.5 + 12 3497 c.3497G>A c.(3496-3498)aGa>aAa p.R1166K NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1166 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 CCAAACTGTAGATCTCCTAGC 0.463000 18 24 0 0 1 0 0 DPY19L2P1 0 broad.mit.edu 37 7 35131480 35131480 + RNA SNP A A T TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr7:35131480A>T ENST00000436258.1 - 0 1889 ATCTTCGTAAAGTGGATGATT 0.423000 4 52 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23887583 23887583 + Silent SNP C C T rs144465613 byFrequency TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr14:23887583C>T ENST00000355349.3 - 30 4167 c.4005G>A c.(4003-4005)tcG>tcA p.S1335S NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1335 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.S1335S(3) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CATGCCGGGCCGACTGCAGTG 0.662000 5 56 0 0 1 0 0 MMP26 56547 broad.mit.edu 37 11 5010966 5010966 + Missense_Mutation SNP G G A TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr11:5010966G>A ENST00000380390.1 + 3 404 c.188G>A c.(187-189)cGg>cAg p.R63Q MMP26_ENST00000477339.1_3'UTR|MMP26_ENST00000300762.1_Missense_Mutation_p.R63Q Q9NRE1 MMP26_HUMAN matrix metallopeptidase 26 63 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.R63P(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1) 22 Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227) Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191) CAATTCCATCGGAATGGGACA 0.527000 14 11 0 0 1 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20864418 20864418 + Missense_Mutation SNP A A G TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr12:20864418A>G ENST00000381552.1 + 5 871 c.503A>G c.(502-504)gAa>gGa p.E168G SLCO1C1_ENST00000266509.2_Missense_Mutation_p.E168G|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.E50G|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.E168G|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.E168G Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 168 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) TCAGTTATGGAAAAATCAAAA 0.343000 52 39 0 0 1 0 0 CCDC110 256309 broad.mit.edu 37 4 186380216 186380216 + Nonsense_Mutation SNP T T A TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr4:186380216T>A ENST00000307588.3 - 6 1600 c.1525A>T c.(1525-1527)Aaa>Taa p.K509* CCDC110_ENST00000510617.1_Nonsense_Mutation_p.K509*|CCDC110_ENST00000393540.3_Nonsense_Mutation_p.K472* NM_152775.3 NP_689988.1 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 509 nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9) 30 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) attatttttttaaattCTTTA 0.279000 21 31 0 0 1 0 0 APBB1IP 54518 broad.mit.edu 37 10 26822387 26822387 + Missense_Mutation SNP G G T TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr10:26822387G>T ENST00000376236.4 + 9 1288 c.833G>T c.(832-834)aGa>aTa p.R278I NM_019043.3 NP_061916.3 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 278 blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 TTGGATAACAGAGGAAAAAAA 0.348000 16 21 6.94344e-10 7.42787e-10 1 1 0 TPTE 7179 broad.mit.edu 37 21 10951330 10951330 + Missense_Mutation SNP A A C TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr21:10951330A>C ENST00000298232.7 - 9 695 c.328T>G c.(328-330)Tct>Gct p.S110A TPTE_ENST00000361285.4_Missense_Mutation_p.S128A|TPTE_ENST00000342420.5_Missense_Mutation_p.S90A|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 128 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AGAGAAATAGAACGATACTCC 0.343000 37 114 0 0 1 0 0 CEP152 22995 broad.mit.edu 37 15 49048337 49048337 + Missense_Mutation SNP T T G TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr15:49048337T>G ENST00000380950.2 - 20 3295 c.3108A>C c.(3106-3108)caA>caC p.Q1036H CEP152_ENST00000399334.3_Missense_Mutation_p.Q1036H|CEP152_ENST00000325747.5_Missense_Mutation_p.Q943H NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa 1036 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) AGATTTCCAGTTGGATCCGCT 0.428000 51 59 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57590912 57590912 + Missense_Mutation SNP C C T TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr12:57590912C>T ENST00000243077.3 + 56 9506 c.9040C>T c.(9040-9042)Cgc>Tgc p.R3014C NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 3014 EGF-like 12; calcium-binding (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CTATGCACCCCGCGGCGGCGA 0.637000 46 50 0 0 1 0 0 FUT4 2526 broad.mit.edu 37 11 94277395 94277395 + Silent SNP G G T TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr11:94277395G>T ENST00000358752.2 + 1 379 c.96G>T c.(94-96)tcG>tcT p.S32S NM_002033.3 NP_002024.1 P22083 FUT4_HUMAN fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) 32 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction alpha(1,3)-fucosyltransferase activity central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GGGCCTGGTCGGGCCGGCTGG 0.786000 12 11 1.08611e-07 1.13548e-07 1 1 0 FRG1B 0 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr20:29625875T>C ENST00000278882.3 + 5 499 c.119T>C c.(118-120)aTc>aCc p.I40T FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T p.I40T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 6 80 0 0 1 0 0 SPRED2 200734 broad.mit.edu 37 2 65561891 65561891 + Missense_Mutation SNP T T C TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr2:65561891T>C ENST00000356388.4 - 3 410 c.221A>G c.(220-222)tAt>tGt p.Y74C SPRED2_ENST00000443619.2_Missense_Mutation_p.Y71C|SPRED2_ENST00000474228.1_5'UTR NM_181784.2 NP_861449.2 Q7Z698 SPRE2_HUMAN sprouty-related, EVH1 domain containing 2 74 WH1. inactivation of MAPK activity|multicellular organismal development transport vesicle membrane stem cell factor receptor binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3) 34 CTTTCTTACATAGCATTCCAA 0.433000 57 46 0 0 1 0 0 IRAK3 0 broad.mit.edu 37 12 66597520 66597520 + Missense_Mutation SNP G G C TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr12:66597520G>C ENST00000261233.4 + 2 584 c.163G>C c.(163-165)Gtt>Ctt p.V55L IRAK3_ENST00000457197.2_Intron NM_007199.2 NP_009130.2 Q9Y616 IRAK3_HUMAN interleukin-1 receptor-associated kinase 3 55 Death. interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(28;0.0203) CTGGCTGGATGTTCGTCATAT 0.368000 20 27 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427885 3427885 + RNA SNP A A G TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr11:3427885A>G ENST00000529482.1 + 0 1002 AGCTTCACAGATCCACCGCTG 0.587000 3 16 0 0 1 0 0 ZNF143 7702 broad.mit.edu 37 11 9522776 9522776 + Missense_Mutation SNP C C T TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr11:9522776C>T ENST00000396602.2 + 11 1225 c.1106C>T c.(1105-1107)gCc>gTc p.A369V ZNF143_ENST00000396597.3_Missense_Mutation_p.A338V|ZNF143_ENST00000396604.1_Missense_Mutation_p.A368V|ZNF143_ENST00000530463.1_Missense_Mutation_p.A368V|ZNF143_ENST00000299606.2_Missense_Mutation_p.A341V NM_003442.5 NP_003433.3 P52747 ZN143_HUMAN zinc finger protein 143 369 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm DNA binding|zinc ion binding endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 13 all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212) AGGGCATTTGCCAGTGCAACA 0.418000 4 139 0 0 1 0 0 PDE2A 5138 broad.mit.edu 37 11 72293527 72293527 + Silent SNP G G A TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr11:72293527G>A ENST00000334456.5 - 21 2057 c.1812C>T c.(1810-1812)acC>acT p.T604T PDE2A_ENST00000540345.1_Silent_p.T595T|PDE2A_ENST00000444035.2_Silent_p.T595T|PDE2A_ENST00000418754.2_Silent_p.T489T|PDE2A_ENST00000376450.3_Silent_p.T348T|PDE2A_ENST00000544570.1_Silent_p.T597T NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 604 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) GAGGGGTATAGGTGAAACTTG 0.527000 21 31 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144881611 144881611 + Silent SNP C C T TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr1:144881611C>T ENST00000369359.4 - 28 4034 c.3996G>A c.(3994-3996)caG>caA p.Q1332Q PDE4DIP_ENST00000530740.1_Silent_p.Q1332Q|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Silent_p.Q1195Q|PDE4DIP_ENST00000369356.4_Silent_p.Q1195Q|PDE4DIP_ENST00000313382.9_Silent_p.Q1151Q Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1195 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GAGGCTGGGACTGGTTATCCA 0.582000 T PDGFRB MPD 15 66 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155448900 155448900 + Missense_Mutation SNP C C A TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr1:155448900C>A ENST00000368346.3 - 3 4400 c.3761G>T c.(3760-3762)cGc>cTc p.R1254L ASH1L_ENST00000392403.3_Missense_Mutation_p.R1254L Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 1254 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) ATGATTCCTGCGCTTACATTT 0.393000 67 105 2.23399e-28 2.50643e-28 1 1 0 VPS13B 157680 broad.mit.edu 37 8 100026096 100026096 + Missense_Mutation SNP A A G TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr8:100026096A>G ENST00000395996.1 + 2 191 c.80A>G c.(79-81)cAg>cGg p.Q27R VPS13B_ENST00000355155.1_Missense_Mutation_p.Q27R|VPS13B_ENST00000358544.2_Missense_Mutation_p.Q27R|VPS13B_ENST00000441350.2_Missense_Mutation_p.Q27R|VPS13B_ENST00000357162.2_Missense_Mutation_p.Q27R Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 27 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TCGGATCTACAGCTTTCACTA 0.423000 134 104 0 0 1 0 0 ZNF366 0 broad.mit.edu 37 5 71752404 71752404 + Missense_Mutation SNP A A T TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr5:71752404A>T ENST00000318442.5 - 3 1841 c.1351T>A c.(1351-1353)Tgt>Agt p.C451S NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 451 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) CAAATCCCACACTTATGCTCC 0.512000 31 67 0 0 1 0 0 OR5D18 219438 broad.mit.edu 37 11 55587793 55587793 + Missense_Mutation SNP C C T rs143615376 by1000genomes TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr11:55587793C>T ENST00000333976.4 + 1 708 c.688C>T c.(688-690)Cgt>Tgt p.R230C NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) CCTCAAGATGCGTTCAGTCAG 0.502000 37 43 0 0 1 0 0 GPR132 29933 broad.mit.edu 37 14 105518072 105518072 + Silent SNP G G A TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr14:105518072G>A ENST00000329797.3 - 4 1313 c.402C>T c.(400-402)tgC>tgT p.C134C GPR132_ENST00000392585.2_Silent_p.C125C|GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Silent_p.C134C NM_013345.2 NP_037477.1 Q9UNW8 GP132_HUMAN G protein-coupled receptor 132 134 response to stress integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 18 all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521) AGGAGATGCAGCACAGGAAGA 0.632000 4 128 0 0 1 0 0 AC004381.6 0 broad.mit.edu 37 16 20824563 20824563 + Missense_Mutation SNP G G T TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr16:20824563G>T ENST00000261377.6 + 3 399 c.190G>T c.(190-192)Gac>Tac p.D64Y AC004381.6_ENST00000567297.1_3'UTR|AC004381.6_ENST00000564274.1_Missense_Mutation_p.D64Y|AC004381.6_ENST00000348433.6_Missense_Mutation_p.D64Y|ERI2_ENST00000564349.1_Intron NM_001199053.1|NM_030941.2 NP_001185982.1|NP_112203.2 AGTAACCCATGACCAGCTGTG 0.413000 3 56 6.4e-05 6.54222e-05 1 1 0 AC226119.5 0 broad.mit.edu 37 4 3951121 3951122 + RNA INS - - TGTC rs35568143 TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr4:3951121_3951122insTGTC ENST00000281228.8 - 0 344 FAM86EP_ENST00000313946.8_RNA cgttttcACTTTGTGCAGGAAG 0.515 6 4 --- --- --- --- NOX3 50508 broad.mit.edu 37 6 155761204 155761204 + Frame_Shift_Del DEL A A - TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr6:155761204delA ENST00000159060.2 - 6 656 c.554delT c.(553-555)gcfs p.V185fs NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 185 Ferric oxidoreductase. electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) CATGATCAAGACTAAAGCCAG 0.438 21 36 --- --- --- --- FOXA1 3169 broad.mit.edu 37 14 38061223 38061228 + In_Frame_Del DEL TCTCGA TCTCGA - TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr14:38061223_38061228delTCTCGA ENST00000250448.2 - 2 822_827 c.761_766delTCGAGA c.(760-768)tac>t p.FEN254del FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_In_Frame_Del_p.FEN221del NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 254 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) TAGCAGCCGTTCTCGAACATGTTGCC 0.689 14 17 --- --- --- --- HERC2P9 0 broad.mit.edu 37 15 28900331 28900331 + RNA DEL A A - TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr15:28900331delA ENST00000528584.1 + 0 14 NR_036443.1 actctgtctcaaaaaaaaaaa 0.413 4 6 --- --- --- --- NCOR1 9611 broad.mit.edu 37 17 16042456 16042456 + Frame_Shift_Del DEL C C - TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr17:16042456delC ENST00000268712.3 - 12 1475 c.1218delG c.(1216-1218)atfs p.M407fs NCOR1_ENST00000395848.1_Frame_Shift_Del_p.M298fs|NCOR1_ENST00000395851.1_Frame_Shift_Del_p.M407fs NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 407 cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CATCAAACATCATAGGTGGAA 0.338 27 62 --- --- --- --- C19orf33 64073 broad.mit.edu 37 19 38795558 38795566 + In_Frame_Del DEL AGAAGGGCA AGAAGGGCA - rs149188740 byFrequency TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr19:38795558_38795566delAGAAGGGCA ENST00000301246.5 + 4 376_384 c.275_283delAGAAGGGCA c.(274-285)gag>g p.EKGK92del C19orf33_ENST00000588605.1_3'UTR NM_033520.1 NP_277055.1 Q9GZP8 IMUP_HUMAN chromosome 19 open reading frame 33 92 nucleus all_cancers(60;1.07e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) aagaagaaggagaagggcaagaaggagaa 0.608 10 21 --- --- --- --- ERF 2077 broad.mit.edu 37 19 42753613 42753614 + Frame_Shift_Ins INS - - T TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18346a75-5c68-44ad-94d2-2c935cb2b87a e883ecaa-298d-48b8-929a-0ce5fb7b476b g.chr19:42753613_42753614insT ENST00000222329.4 - 4 807_808 c.650_651insA c.(649-651)tcgfs p.S217fs AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Frame_Shift_Ins_p.S142fs NM_006494.2 NP_006485.2 P50548 ERF_HUMAN Ets2 repressor factor 217 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) GGGGCCCTCGGAAGGCACCCAG 0.693 6 10 --- --- --- ---