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 IDO2 169355 broad.mit.edu 37 8 39845428 39845428 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:39845428G>A ENST00000502986.2 + 7 769 c.527G>A c.(526-528)aGc>aAc p.S176N RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000389060.4_Missense_Mutation_p.S163N NM_194294.2 NP_919270.2 Q6ZQW0 I23O2_HUMAN indoleamine 2,3-dioxygenase 2 163 tryptophan catabolic process to kynurenine cytosol heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 18 GGGGGAGAGAGCCTGCATGGT 0.468000 5 10 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45390482 45390482 + Missense_Mutation SNP C C G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:45390482C>G ENST00000371438.1 + 2 569 c.211C>G c.(211-213)Cag>Gag p.Q71E RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 71 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 gcagcagcagcaggaggcggc 0.716000 3 21 0 0 1 0 0 FEM1A 55527 broad.mit.edu 37 19 4793789 4793789 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:4793789C>T ENST00000269856.3 + 1 2062 c.1923C>T c.(1921-1923)tgC>tgT p.C641C AC005523.2_ENST00000601192.1_RNA NM_018708.2 NP_061178.1 Q9BSK4 FEM1A_HUMAN fem-1 homolog a (C. elegans) 641 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 17 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) CCCTGCAGTGCCTTGCGGCCC 0.592000 10 10 0 0 1 0 0 SERPINA3 12 broad.mit.edu 37 14 95081354 95081354 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:95081354C>T ENST00000553947.1 + 5 1539 c.651C>T c.(649-651)atC>atT p.I217I SERPINA3_ENST00000393078.3_Silent_p.I192I|SERPINA3_ENST00000467132.1_Silent_p.I192I|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000393080.4_Silent_p.I192I P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 192 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) GGGGGAAAATCACAGATCTGA 0.493000 23 61 0 0 1 0 0 DPPA2 151871 broad.mit.edu 37 3 109028135 109028135 + Missense_Mutation SNP T T G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:109028135T>G ENST00000478945.1 - 4 470 c.224A>C c.(223-225)aAa>aCa p.K75T NM_138815.3 NP_620170.3 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 75 nucleus nucleic acid binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GCATCTAGCTTTTTGTGGAGC 0.403000 21 40 0 0 1 0 0 MTM1 4534 broad.mit.edu 37 X 149831996 149831996 + Nonsense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:149831996C>T ENST00000370396.2 + 14 1612 c.1558C>T c.(1558-1560)Cga>Tga p.R520* MTM1_ENST00000543350.1_Nonsense_Mutation_p.R405*|MTM1_ENST00000542741.1_3'UTR|MTM1_ENST00000413012.2_Nonsense_Mutation_p.R483*|MTM1_ENST00000306167.7_3'UTR NM_000252.2 NP_000243.1 Q13496 MTM1_HUMAN myotubularin 1 520 Myotubularin phosphatase. endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization filopodium|late endosome|plasma membrane|ruffle intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Acute lymphoblastic leukemia(192;6.56e-05) AGAAATCAATCGAGTTTTATA 0.373000 25 5 0 0 1 0 0 GFM1 85476 broad.mit.edu 37 3 158362460 158362460 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:158362460G>A ENST00000486715.1 + 1 394 c.37G>A c.(37-39)Ggg>Agg p.G13R GFM1_ENST00000478576.1_Missense_Mutation_p.G13R|GFM1_ENST00000264263.5_Missense_Mutation_p.G13R NM_024996.5 NP_079272.4 Q96RP9 EFGM_HUMAN G elongation factor, mitochondrial 1 13 mitochondrial translational elongation mitochondrion GTP binding|GTPase activity|translation elongation factor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2) 22 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) CGCGGCTCTGGGGCGCGGAAG 0.657000 OREG0015898 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 2 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33954796 33954796 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr15:33954796G>A ENST00000389232.4 + 35 5135 c.5065G>A c.(5065-5067)Gag>Aag p.E1689K RYR3_ENST00000415757.3_Missense_Mutation_p.E1689K NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1689 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GATTCCCTTGGAGAGTCTCAG 0.582000 51 8 0 0 1 0 0 ALAS1 211 broad.mit.edu 37 3 52245537 52245537 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:52245537C>T ENST00000394965.2 + 10 1929 c.1569C>T c.(1567-1569)gtC>gtT p.V523V ALAS1_ENST00000310271.2_Silent_p.V523V|ALAS1_ENST00000484952.1_Silent_p.V523V|ALAS1_ENST00000469224.1_Silent_p.V523V NM_000688.5 NP_000679.1 P13196 HEM1_HUMAN aminolevulinate, delta-, synthase 1 523 heme biosynthetic process mitochondrial matrix 5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) TCCCTGTTGTCCACTGCCCCA 0.582000 18 39 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1051561 1051561 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:1051561G>A ENST00000263094.6 + 21 3169 c.2938G>A c.(2938-2940)Gag>Aag p.E980K ABCA7_ENST00000435683.2_Missense_Mutation_p.E842K|ABCA7_ENST00000433129.1_Missense_Mutation_p.E980K NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 980 ABC transporter 1. phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGGTATTTGGGAGCTGCTGCT 0.582000 18 12 0 0 1 0 0 IGFN1 91156 broad.mit.edu 37 1 201185596 201185596 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:201185596C>T ENST00000335211.4 + 16 9440 c.9310C>T c.(9310-9312)Cca>Tca p.P3104S IGFN1_ENST00000295591.8_Missense_Mutation_p.P264S NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GCCTGATCCCCCACAAGGCCC 0.672000 26 10 0 0 1 0 0 ACOT7 11332 broad.mit.edu 37 1 6387469 6387469 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:6387469G>A ENST00000361521.4 - 5 1506 c.515C>T c.(514-516)tCc>tTc p.S172F ACOT7_ENST00000377845.3_Missense_Mutation_p.S152F|ACOT7_ENST00000541130.1_Missense_Mutation_p.S152F|ACOT7_ENST00000545482.1_Missense_Mutation_p.S67F|ACOT7_ENST00000377842.3_Missense_Mutation_p.S131F|ACOT7_ENST00000377855.2_Missense_Mutation_p.S182F NM_007274.3 NP_009205.3 O00154 BACH_HUMAN acyl-CoA thioesterase 7 182 mitochondrion|nucleus carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1) 16 Ovarian(185;0.0634)|all_lung(157;0.175) all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211) Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481) CTCCTGCCGGGAATACTGCGA 0.627000 25 16 0 0 1 0 0 C2orf40 84417 broad.mit.edu 37 2 106690398 106690398 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:106690398C>T ENST00000409944.1 + 4 307 c.76C>T c.(76-78)Ctt>Ttt p.L26F C2orf40_ENST00000238044.3_Missense_Mutation_p.L62F|C2orf40_ENST00000489174.1_3'UTR Q9H1Z8 AUGN_HUMAN chromosome 2 open reading frame 40 62 extracellular region|transport vesicle lung(7)|urinary_tract(1) 8 CAAAGAATTCCTTGGCAGCCT 0.517000 31 105 0 0 1 0 0 ABCA5 23461 broad.mit.edu 37 17 67297289 67297289 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:67297289C>T ENST00000392676.3 - 9 1322 c.1258G>A c.(1258-1260)Gtc>Atc p.V420I ABCA5_ENST00000588877.1_Missense_Mutation_p.V420I|ABCA5_ENST00000392677.2_Missense_Mutation_p.V420I Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 420 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) CCTGGAATGACTTGATCAAGA 0.323000 50 18 0 0 1 0 0 RAB3GAP1 22930 broad.mit.edu 37 2 135911265 135911265 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:135911265C>T ENST00000264158.8 + 19 2151 c.2108C>T c.(2107-2109)tCa>tTa p.S703L RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.S703L|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.S659L|ZRANB3_ENST00000412849.1_Intron NM_012233.2 NP_036365.1 Q15042 RB3GP_HUMAN RAB3 GTPase activating protein subunit 1 (catalytic) 703 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(221;0.117) AGGTGGTATTCACCCCGGGAT 0.418000 23 65 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72832254 72832254 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:72832254C>T ENST00000268489.5 - 9 4999 c.4327G>A c.(4327-4329)Gct>Act p.A1443T ZFHX3_ENST00000397992.5_Missense_Mutation_p.A529T NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 1443 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) TTCTTCAGAGCCTGGAAAGTT 0.522000 52 74 0 0 1 0 0 UGGT1 56886 broad.mit.edu 37 2 128934408 128934408 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:128934408C>T ENST00000375990.3 + 32 3891 c.3488C>T c.(3487-3489)cCc>cTc p.P1163L UGGT1_ENST00000259253.6_Missense_Mutation_p.P1187L Q9NYU2 UGGG1_HUMAN UDP-glucose glycoprotein glucosyltransferase 1 1187 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 ACTGATTCTCCCCCTGATGCT 0.413000 116 44 0 0 1 0 0 TDRD9 122402 broad.mit.edu 37 14 104460925 104460925 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:104460925C>T ENST00000409874.4 + 11 1353 c.1305C>T c.(1303-1305)gtC>gtT p.V435V TDRD9_ENST00000339063.5_Silent_p.V435V NM_153046.2 NP_694591.2 Q8NDG6 TDRD9_HUMAN tudor domain containing 9 435 Helicase C-terminal. cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis nucleus|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768) TAAGTCCAGTCCCTGGGTACA 0.358000 12 8 0 0 1 0 0 HNMT 3176 broad.mit.edu 37 2 138759672 138759672 + Missense_Mutation SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:138759672T>C ENST00000280097.3 + 4 519 c.337T>C c.(337-339)Ttt>Ctt p.F113L HNMT_ENST00000410115.1_Missense_Mutation_p.F113L|HNMT_ENST00000485653.1_3'UTR NM_006895.2 NP_008826.1 P50135 HNMT_HUMAN histamine N-methyltransferase 113 respiratory gaseous exchange cytoplasm histamine N-methyltransferase activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.125) Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103) GAACGTAAAGTTTGCTTGGCA 0.373000 6 34 0 0 1 0 0 CTRL 1506 broad.mit.edu 37 16 67964466 67964466 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:67964466G>A ENST00000574481.1 - 5 905 c.344C>T c.(343-345)tCt>tTt p.S115F NM_001907.2 NP_001898.1 P40313 CTRL_HUMAN chymotrypsin-like 115 Peptidase S1. digestion|proteolysis extracellular space serine-type endopeptidase activity kidney(1)|large_intestine(2)|urinary_tract(1) 4 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) CATGGTGGTAGAGTTCCAGCT 0.562000 73 79 0 0 1 0 0 ZP3 7784 broad.mit.edu 37 7 76062288 76062288 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:76062288C>T ENST00000336517.4 + 4 669 c.323C>T c.(322-324)cCc>cTc p.P108L ZP3_ENST00000394857.3_Missense_Mutation_p.P159L|ZP3_ENST00000416245.1_5'UTR NM_007155.5 NP_009086.4 P21754 ZP3_HUMAN zona pellucida glycoprotein 3 (sperm receptor) 159 ZP. binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding endometrium(1)|large_intestine(3)|lung(2)|skin(1) 7 ACCTGGTTGCCCTTCAGGACC 0.587000 13 13 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40354371 40354371 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:40354371C>T ENST00000221347.6 - 35 16105 c.16098G>A c.(16096-16098)ggG>ggA p.G5366G NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 5366 VWFD 13. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CACACAGTTTCCCAGCATGGT 0.577000 5 21 0 0 1 0 0 C8orf46 254778 broad.mit.edu 37 8 67417683 67417683 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:67417683C>T ENST00000305454.3 + 3 641 c.200C>T c.(199-201)cCt>cTt p.P67L C8orf46_ENST00000482608.2_3'UTR|C8orf46_ENST00000521495.1_Missense_Mutation_p.P67L|C8orf46_ENST00000480005.1_Missense_Mutation_p.P67L|C8orf46_ENST00000522977.1_Missense_Mutation_p.P67L NM_152765.3 NP_689978.2 Q8TAG6 CH046_HUMAN chromosome 8 open reading frame 46 67 endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2) 6 Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226) CGCAGGGACCCTGGCGACCGC 0.731000 7 8 0 0 1 0 0 GPD1L 23171 broad.mit.edu 37 3 32181842 32181842 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:32181842C>T ENST00000282541.5 + 4 690 c.489C>T c.(487-489)ttC>ttT p.F163F NM_015141.3 NP_055956.1 Q8N335 GPD1L_HUMAN glycerol-3-phosphate dehydrogenase 1-like 163 glycerol-3-phosphate catabolic process glycerol-3-phosphate dehydrogenase complex glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity large_intestine(4)|lung(7)|ovary(1) 12 CAGAGAAGTTCTGTGAGACCA 0.473000 15 44 0 0 1 0 0 DGKG 1608 broad.mit.edu 37 3 186015887 186015887 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:186015887C>T ENST00000265022.3 - 4 815 c.276G>A c.(274-276)acG>acA p.T92T DGKG_ENST00000382164.4_Silent_p.T92T|DGKG_ENST00000344484.4_Silent_p.T92T|DGKG_ENST00000544847.1_Silent_p.T92T NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 92 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) TGGCTCCCTCCGTCGGGTGGT 0.617000 38 27 0 0 1 0 0 SERPING1 710 broad.mit.edu 37 11 57381809 57381809 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:57381809G>A ENST00000403558.1 + 7 1753 c.1387G>A c.(1387-1389)Gat>Aat p.D463N SERPING1_ENST00000278407.4_Missense_Mutation_p.D420N|SERPING1_ENST00000378323.4_Missense_Mutation_p.D425N|SERPING1_ENST00000378324.2_Missense_Mutation_p.D368N|SERPING1_ENST00000340687.6_Missense_Mutation_p.D383N NM_001032295.1 NP_001027466.1 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 420 blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1) 27 AGAATTCTTCGATTTTTCTTA 0.483000 50 44 0 0 1 0 0 TNRC18 84629 broad.mit.edu 37 7 5410232 5410232 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:5410232G>A ENST00000399537.4 - 11 4341 c.3993C>T c.(3991-3993)ttC>ttT p.F1331F TNRC18_ENST00000430969.1_Silent_p.F1331F O15417 TNC18_HUMAN trinucleotide repeat containing 18 1331 DNA binding 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) GACTGGGCAGGAACTGGTCAG 0.701000 7 13 0 0 1 0 0 OR8B2 26595 broad.mit.edu 37 11 124253153 124253153 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:124253153G>A ENST00000375013.2 - 1 105 c.87C>T c.(85-87)ttC>ttT p.F29F NM_001005468.1 NP_001005468.1 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, member 2 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1) 23 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) CTAGAAACAGGAAAAAGAGGG 0.413000 19 85 0 0 1 0 0 SERPINA4 5267 broad.mit.edu 37 14 95030284 95030284 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:95030284C>T ENST00000557004.1 + 2 886 c.465C>T c.(463-465)ttC>ttT p.F155F SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Silent_p.F155F|SERPINA4_ENST00000555095.1_Silent_p.F155F P29622 KAIN_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 155 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) TTGCAAAATTCCTGAATGACA 0.537000 22 71 0 0 1 0 0 PVRL1 5818 broad.mit.edu 37 11 119509512 119509512 + Missense_Mutation SNP C C T rs143612966 byFrequency TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:119509512C>T ENST00000341398.2 - 7 1155 c.1156G>A c.(1156-1158)Gac>Aac p.D386N RP11-196E1.3_ENST00000532153.1_RNA|RP11-196E1.3_ENST00000601999.1_RNA NM_203285.1 NP_976030.1 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 0 adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) AGGGGCTGGTCGGTCCTGGAG 0.627000 8 11 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16893772 16893772 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:16893772G>A ENST00000430580.2 - 25 3628 c.2741C>T c.(2740-2742)cCt>cTt p.P914L NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 914 NBPF 5. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) ATAACCTGAAGGAGTTGAATA 0.483000 84 1065 0 0 1 0 0 NOMO1 23420 broad.mit.edu 37 16 14947797 14947797 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:14947797C>T ENST00000287667.7 + 9 1048 c.877C>T c.(877-879)Ccg>Tcg p.P293S NOMO1_ENST00000566883.1_3'UTR NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 293 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 CTTCCAGATTCCGTTCTATCG 0.438000 43 68 0 0 1 0 0 CD300LF 146722 broad.mit.edu 37 17 72699274 72699274 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:72699274G>A ENST00000361254.4 - 3 399 c.400C>T c.(400-402)Cct>Tct p.P134S CD300LF_ENST00000464910.1_Intron|RAB37_ENST00000340415.3_Intron|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000326165.6_Intron|CD300LF_ENST00000343125.4_Intron|CD300LF_ENST00000301573.9_Intron|CD300LF_ENST00000583937.1_Missense_Mutation_p.P131S|CD300LF_ENST00000469092.1_Intron|CD300LF_ENST00000581500.1_Missense_Mutation_p.P134S Q8TDQ1 CLM1_HUMAN CD300 molecule-like family member f 127 integral to membrane|plasma membrane receptor activity endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 GTGGGGGCAGGAGTCGACGCT 0.592000 28 4 0 0 1 0 0 MLST8 64223 broad.mit.edu 37 16 2256079 2256079 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:2256079G>A ENST00000301725.7 + 2 50 c.50G>A c.(49-51)gGc>gAc p.G17D MLST8_ENST00000569417.1_5'UTR|MLST8_ENST00000382450.4_5'UTR|MLST8_ENST00000564088.1_5'UTR|MLST8_ENST00000301724.10_5'UTR|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000397124.1_5'UTR|MLST8_ENST00000565250.1_5'UTR Q9BVC4 LST8_HUMAN MTOR associated protein, LST8 homolog (S. cerevisiae) 274 insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation cytosol protein binding large_intestine(3)|lung(2)|skin(1) 6 GCCCGTGCAGGCCACACCATG 0.592000 83 87 0 0 1 0 0 GRIN2D 2906 broad.mit.edu 37 19 48925101 48925101 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:48925101C>T ENST00000263269.3 + 10 2239 c.2151C>T c.(2149-2151)tcC>tcT p.S717S NM_000836.2 NP_000827.2 O15399 NMDE4_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2D 717 cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1) 37 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) CCAACGGCTCCACGGAGAAGA 0.622000 44 40 0 0 1 0 0 KCNH1 3756 broad.mit.edu 37 1 211192138 211192138 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:211192138C>T ENST00000271751.4 - 6 1046 c.1019G>A c.(1018-1020)gGg>gAg p.G340E KCNH1_ENST00000367007.4_Intron O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 340 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) ACTCTCTCTCCCCTCCAGTGG 0.438000 62 21 0 0 1 0 0 FMO5 2330 broad.mit.edu 37 1 146672834 146672834 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:146672834C>T ENST00000254090.4 - 7 1471 c.1083G>A c.(1081-1083)ctG>ctA p.L361L FMO5_ENST00000441068.2_Silent_p.L361L|RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000369272.3_Intron NM_001461.2 NP_001452.2 P49326 FMO5_HUMAN flavin containing monooxygenase 5 361 integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1) 25 all_hematologic(923;0.0487) TTGGCCTTTCCAGGTTAGGAG 0.458000 8 75 0 0 1 0 0 NOA1 84273 broad.mit.edu 37 4 57840144 57840144 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:57840144G>A ENST00000264230.4 - 2 2426 c.1189C>T c.(1189-1191)Cct>Tct p.P397S NM_032313.2 NP_115689.1 Q8NC60 CD014_HUMAN nitric oxide associated 1 397 GTP binding ATTCTGTAAGGAGTTGGGTTG 0.338000 9 35 0 0 1 0 0 MYH11 4629 broad.mit.edu 37 16 15854450 15854450 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:15854450G>A ENST00000338282.6 - 11 1301 c.1195C>T c.(1195-1197)Cct>Tct p.P399S MYH11_ENST00000576790.1_Missense_Mutation_p.P399S|MYH11_ENST00000396324.3_Missense_Mutation_p.P406S|MYH11_ENST00000452625.2_Missense_Mutation_p.P406S|MYH11_ENST00000300036.5_Missense_Mutation_p.P399S NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 399 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 TTGATACGAGGAGTGAGGATG 0.453000 T CBFB AML 60 82 0 0 1 0 0 TPSG1 25823 broad.mit.edu 37 16 1272655 1272655 + Missense_Mutation SNP C C T rs117769620 byFrequency TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:1272655C>T ENST00000234798.4 - 4 512 c.508G>A c.(508-510)Gga>Aga p.G170R NM_012467.3 NP_036599.3 Q9NRR2 TRYG1_HUMAN tryptase gamma 1 170 Peptidase S1. proteolysis integral to plasma membrane serine-type endopeptidase activity liver(1)|lung(2)|skin(1) 4 Hepatocellular(780;0.00369) TCCTCACCTCCCTCCCGCGTA 0.667000 77 103 0 0 1 0 0 POTEA 340441 broad.mit.edu 37 8 43197399 43197399 + RNA SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:43197399G>A ENST00000522175.2 + 0 1152 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 AGCGTCAGAGGATTATGATTT 0.358000 22 39 0 0 1 0 0 ADAM15 8751 broad.mit.edu 37 1 155030485 155030485 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:155030485C>T ENST00000356955.2 + 14 1676 c.1575C>T c.(1573-1575)gcC>gcT p.A525A ADAM15_ENST00000271836.6_Silent_p.A525A|ADAM15_ENST00000368412.3_Silent_p.A525A|ADAM15_ENST00000368410.2_Silent_p.A231A|ADAM15_ENST00000360674.4_Silent_p.A525A|ADAM15_ENST00000447332.3_Silent_p.A509A|ADAM15_ENST00000449910.2_Silent_p.A525A|ADAM15_ENST00000368413.1_Silent_p.A231A|ADAM15_ENST00000359280.4_Silent_p.A525A|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000531455.1_Silent_p.A535A|ADAM15_ENST00000355956.2_Silent_p.A525A NM_207197.2 NP_997080.1 Q13444 ADA15_HUMAN ADAM metallopeptidase domain 15 525 Cys-rich. angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1) 39 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) GGCGTTGTGCCTCCTATGCCC 0.632000 59 24 0 0 1 0 0 USP9X 8239 broad.mit.edu 37 X 41045827 41045827 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:41045827C>T ENST00000324545.7 + 24 4249 c.3616C>T c.(3616-3618)Cct>Tct p.P1206S USP9X_ENST00000378308.2_Missense_Mutation_p.P1206S NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 1206 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 TCAGAGCATTCCTAATCCATC 0.378000 37 9 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166911171 166911171 + Silent SNP G G A rs116478064 by1000genomes TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:166911171G>A ENST00000423058.2 - 4 596 c.579C>T c.(577-579)ctC>ctT p.L193L SCN1A_ENST00000303395.4_Silent_p.L193L|SCN1A_ENST00000375405.3_Silent_p.L193L|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.L193L|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 193 voltage-gated sodium channel complex voltage-gated sodium channel activity p.L193L(1) NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CAGTGAAATCGAGCCAGTTCC 0.343000 20 13 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94693338 94693338 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:94693338C>T ENST00000282020.4 + 16 2971 c.2713C>T c.(2713-2715)Ctg>Ttg p.L905L GRID2_ENST00000510992.1_Silent_p.L810L NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 905 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TTTGACCCCTCTGGACATTGA 0.458000 19 56 0 0 1 0 0 IKBKAP 8518 broad.mit.edu 37 9 111653612 111653612 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:111653612G>A ENST00000374647.5 - 28 3338 c.3031C>T c.(3031-3033)Cgt>Tgt p.R1011C IKBKAP_ENST00000537196.1_Missense_Mutation_p.R662C NM_003640.3 NP_003631.2 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein 1011 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 GCACCGCAACGGGCAAACATG 0.532000 19 44 0 0 1 0 0 ERG 2078 broad.mit.edu 37 21 39817371 39817371 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr21:39817371G>A ENST00000442448.1 - 4 484 c.213C>T c.(211-213)gtC>gtT p.V71V ERG_ENST00000398897.1_Intron|ERG_ENST00000453032.2_Intron|ERG_ENST00000398905.1_Silent_p.V64V|ERG_ENST00000429727.2_Silent_p.V64V|ERG_ENST00000398911.1_Silent_p.V71V|ERG_ENST00000398919.2_Silent_p.V71V|ERG_ENST00000288319.7_Silent_p.V64V|ERG_ENST00000398907.1_Silent_p.V64V|ERG_ENST00000398910.1_Silent_p.V71V|ERG_ENST00000417133.2_Silent_p.V71V NM_004449.4 NP_004440.1 P11308 ERG_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 71 cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50) lung(2)|ovary(1)|skin(1) 4 Prostate(19;3.6e-06) TTTTGATGGTGACCCTGGCTG 0.552000 T """EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1""" """Ewing sarcoma, prostate, AML""" 12 11 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41551602 41551602 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:41551602C>T ENST00000396942.1 - 29 3429 c.3346G>A c.(3346-3348)Gag>Aag p.E1116K ANK1_ENST00000352337.4_Missense_Mutation_p.E1116K|ANK1_ENST00000379758.2_Missense_Mutation_p.E1116K|ANK1_ENST00000289734.7_Missense_Mutation_p.E1116K|ANK1_ENST00000265709.8_Missense_Mutation_p.E1157K|ANK1_ENST00000396945.1_Missense_Mutation_p.E1116K|ANK1_ENST00000347528.4_Missense_Mutation_p.E1116K P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1116 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GTGACAAGCTCATCCGGGACA 0.627000 12 30 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48753756 48753756 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:48753756C>T ENST00000285238.8 + 23 3265 c.3185C>T c.(3184-3186)aCc>aTc p.T1062I NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 1062 ABC transmembrane type-1 2. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) TTCTTTGACACCACACCATCA 0.567000 83 24 0 0 1 0 0 COMMD5 28991 broad.mit.edu 37 8 146076258 146076258 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:146076258G>A ENST00000450361.2 - 2 887 c.466C>T c.(466-468)Cgg>Tgg p.R156W COMMD5_ENST00000305103.3_Missense_Mutation_p.R156W|COMMD5_ENST00000402718.3_Missense_Mutation_p.R156W NM_001081003.1 NP_001074472.1 Q9GZQ3 COMD5_HUMAN COMM domain containing 5 156 COMM. nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1) 11 all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) ACCCGCCACCGAAAGTCAGCA 0.637000 9 13 0 0 1 0 0 SERPINI2 5276 broad.mit.edu 37 3 167170763 167170763 + Missense_Mutation SNP C C G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:167170763C>G ENST00000476257.1 - 7 1223 c.925G>C c.(925-927)Gag>Cag p.E309Q SERPINI2_ENST00000471111.1_Missense_Mutation_p.E309Q|SERPINI2_ENST00000461846.1_Missense_Mutation_p.E309Q|SERPINI2_ENST00000264677.4_Missense_Mutation_p.E309Q O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), member 2 309 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 CTAAATATCTCGGTTATGTTC 0.279000 9 13 0 0 1 0 0 PADI1 29943 broad.mit.edu 37 1 17570710 17570710 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:17570710C>T ENST00000375471.4 + 16 2056 c.1964C>T c.(1963-1965)cCc>cTc p.P655L PADI1_ENST00000536552.1_Missense_Mutation_p.P126L|PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000413717.2_Missense_Mutation_p.P170L|PADI1_ENST00000537499.1_Missense_Mutation_p.P212L NM_013358.2 NP_037490.2 Q9ULC6 PADI1_HUMAN peptidyl arginine deiminase, type I 655 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) AAGCCCTTTCCCTTCAAATGG 0.597000 73 17 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10545580 10545580 + Nonsense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:10545580G>A ENST00000583535.1 - 17 2023 c.1936C>T c.(1936-1938)Caa>Taa p.Q646* MYH3_ENST00000226209.7_Nonsense_Mutation_p.Q646* NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 646 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 GAGACAGTTTGGAAGGAAGAA 0.383000 12 10 0 0 1 0 0 NRXN2 9379 broad.mit.edu 37 11 64375232 64375232 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:64375232G>A ENST00000265459.6 - 23 5036 c.4575C>T c.(4573-4575)acC>acT p.T1525T NRXN2_ENST00000377551.1_Silent_p.T1525T|NRXN2_ENST00000409571.1_Silent_p.T1518T|NRXN2_ENST00000377559.3_Silent_p.T1455T|NRXN2_ENST00000301894.2_Silent_p.T479T NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 1525 cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 GTGACAGGAGGGTGGTGCGGT 0.706000 3 2 0 0 1 0 0 MICALL1 85377 broad.mit.edu 37 22 38318090 38318090 + Silent SNP G G A rs144508698 TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:38318090G>A ENST00000215957.6 + 6 807 c.681G>A c.(679-681)tcG>tcA p.S227S NM_033386.3 NP_203744.1 Q8N3F8 MILK1_HUMAN MICAL-like 1 227 cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) GGACACGGTCGGGGACCAGGC 0.647000 22 46 0 0 1 0 0 FLRT3 23767 broad.mit.edu 37 20 14307759 14307759 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:14307759C>T ENST00000378053.3 - 2 650 c.394G>A c.(394-396)Gaa>Aaa p.E132K MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.E132K NM_013281.3 NP_037413.1 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 132 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) AAATGTAATTCTTCCAGATAG 0.388000 87 47 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 69703821 69703821 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:69703821G>A ENST00000370598.1 + 11 2717 c.1896G>A c.(1894-1896)agG>agA p.R632R NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 632 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) CATTTAAAAGGGCAAGTTACA 0.443000 14 53 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47566585 47566585 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr18:47566585G>A ENST00000285039.7 - 3 537 c.238C>T c.(238-240)Ctt>Ttt p.L80F NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 80 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) GGCTCATGAAGATAGCTAAGG 0.468000 105 122 0 0 1 0 0 MARCH6 10299 broad.mit.edu 37 5 10403570 10403570 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:10403570C>T ENST00000274140.5 + 15 1381 c.1249C>T c.(1249-1251)Cca>Tca p.P417S MARCH6_ENST00000510792.1_Missense_Mutation_p.P115S|MARCH6_ENST00000503788.1_Missense_Mutation_p.P312S|MARCH6_ENST00000449913.2_Missense_Mutation_p.P369S NM_005885.2 NP_005876.2 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase 417 protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3) 54 TCAGTCGGCTCCAGGTACTAC 0.448000 50 13 0 0 1 0 0 GRIN2D 2906 broad.mit.edu 37 19 48925100 48925100 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:48925100C>T ENST00000263269.3 + 10 2238 c.2150C>T c.(2149-2151)tCc>tTc p.S717F NM_000836.2 NP_000827.2 O15399 NMDE4_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2D 717 cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1) 37 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) CCCAACGGCTCCACGGAGAAG 0.617000 45 40 0 0 1 0 0 LPIN1 23175 broad.mit.edu 37 2 11943102 11943102 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:11943102C>T ENST00000256720.2 + 14 1941 c.1848C>T c.(1846-1848)ctC>ctT p.L616L LPIN1_ENST00000396099.1_Silent_p.L658L|LPIN1_ENST00000404113.2_Silent_p.L117L|LPIN1_ENST00000425416.2_Silent_p.L622L|LPIN1_ENST00000396097.1_Silent_p.L346L|LPIN1_ENST00000449576.2_Silent_p.L701L NM_145693.2 NP_663731.1 Q14693 LPIN1_HUMAN lipin 1 616 fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) CAGGCCACCTCCCTCTTCTGC 0.537000 33 163 0 0 1 0 0 DGCR14 8220 broad.mit.edu 37 22 19125788 19125788 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:19125788G>A ENST00000252137.6 - 7 908 c.865C>T c.(865-867)Ccc>Tcc p.P289S NM_022719.2 NP_073210.1 Q96DF8 DGC14_HUMAN DiGeorge syndrome critical region gene 14 289 nervous system development catalytic step 2 spliceosome breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1) 16 Colorectal(54;0.0993) GACTCCTGGGGGATCAGCTCC 0.627000 19 28 0 0 1 0 0 DDX20 11218 broad.mit.edu 37 1 112309187 112309187 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:112309187C>T ENST00000475700.1 + 3 3323 c.965C>T c.(964-966)tCa>tTa p.S322L DDX20_ENST00000369702.4_Missense_Mutation_p.S714L Q9UHI6 DDX20_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 714 Helicase C-terminal. assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1) 21 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TATCAAGAATCACCTGGAATC 0.483000 34 76 0 0 1 0 0 MYH9 4627 broad.mit.edu 37 22 36684956 36684956 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:36684956G>A ENST00000216181.5 - 33 4817 c.4587C>T c.(4585-4587)gcC>gcT p.A1529A NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1529 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 GCTGCTCTAGGGCCCGCTTGG 0.632000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 32 59 0 0 1 0 0 NEK10 152110 broad.mit.edu 37 3 27216271 27216271 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:27216271C>T ENST00000429845.2 - 28 2921 c.2559G>A c.(2557-2559)ctG>ctA p.L853L NEK10_ENST00000295720.6_Silent_p.L165L|NEK10_ENST00000357467.2_Silent_p.L250L|NEK10_ENST00000383771.4_Silent_p.L165L|NEK10_ENST00000383770.3_Silent_p.L165L|NEK10_ENST00000498182.1_5'UTR Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 853 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 GTTCACTTTTCAGGCTGGCTG 0.498000 51 39 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058218 11058218 + RNA SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr21:11058218C>T ENST00000470054.1 - 0 429 B melanoma antigen family, member 2 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) TGACTGAAATCCTGAAAGGTG 0.413000 15 56 0 0 1 0 0 FRMD1 79981 broad.mit.edu 37 6 168464329 168464329 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:168464329C>T ENST00000283309.6 - 6 820 c.756G>A c.(754-756)gaG>gaA p.E252E FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000440994.2_Silent_p.E184E|FRMD1_ENST00000537786.1_Silent_p.E23E NM_024919.3 NP_079195.3 Q8N878 FRMD1_HUMAN FERM domain containing 1 252 FERM. cytoskeleton binding endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 19 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) GCCGGCAGGCCTCCTGGATGA 0.662000 12 25 0 0 1 0 0 IGDCC3 9543 broad.mit.edu 37 15 65627166 65627166 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr15:65627166G>A ENST00000327987.4 - 5 974 c.723C>T c.(721-723)ctC>ctT p.L241L NM_004884.3 NP_004875.2 Q8IVU1 IGDC3_HUMAN immunoglobulin superfamily, DCC subclass, member 3 241 Ig-like C2-type 3. breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CAGGCCCCACGAGGATGGCTG 0.657000 16 3 0 0 1 0 0 GPR180 160897 broad.mit.edu 37 13 95264595 95264595 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr13:95264595C>T ENST00000376958.4 + 3 481 c.456C>T c.(454-456)aaC>aaT p.N152N NM_180989.5 NP_851320.1 Q86V85 GP180_HUMAN G protein-coupled receptor 180 152 integral to membrane breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 10 all_neural(89;0.0684)|Medulloblastoma(90;0.163) TGTTACTAAACCCAGATGCCG 0.368000 30 22 0 0 1 0 0 CS 1431 broad.mit.edu 37 12 56676659 56676659 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:56676659G>A ENST00000548567.1 - 6 656 c.186C>T c.(184-186)atC>atT p.I62I CS_ENST00000351328.3_Silent_p.I128I|CS_ENST00000542324.2_Silent_p.I115I O75390 CISY_HUMAN citrate synthase 128 cellular carbohydrate metabolic process|tricarboxylic acid cycle mitochondrial matrix citrate (Si)-synthase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 17 Myeloproliferative disorder(1001;0.000374) BRCA - Breast invasive adenocarcinoma(357;6.17e-07) CCTCTGTTGGGATATGTCCAG 0.473000 24 37 0 0 1 0 0 SNORD113-4 767564 broad.mit.edu 37 14 101402864 101402864 + RNA SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:101402864G>A ENST00000364802.1 + 0 37 NR_003232.1 ATCTGAAACAGGATTTTTGAT 0.348000 16 51 0 0 1 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1813667 1813667 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:1813667G>A ENST00000250894.4 + 17 2062 c.1905G>A c.(1903-1905)acG>acA p.T635T MAPK8IP3_ENST00000356010.5_Silent_p.T629T NM_015133.3 NP_055948.2 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting protein 3 635 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 GCGACTGCACGTCCTCCGCCC 0.672000 8 6 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216248207 216248207 + Splice_Site SNP C C A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:216248207C>A ENST00000354785.4 - 31 5264 c.e31-1 FN1_ENST00000421182.1_Splice_Site|FN1_ENST00000357867.4_Splice_Site|FN1_ENST00000357009.2_Splice_Site|FN1_ENST00000356005.4_Splice_Site|FN1_ENST00000345488.5_Splice_Site|FN1_ENST00000336916.4_Splice_Site|FN1_ENST00000323926.6_Splice_Site|FN1_ENST00000446046.1_Splice_Site|FN1_ENST00000443816.1_Splice_Site|FN1_ENST00000346544.3_Splice_Site|FN1_ENST00000432072.2_Splice_Site|FN1_ENST00000359671.1_Splice_Site P02751 FINC_HUMAN fibronectin 1 acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTGTCAATTTCTACAAATAAA 0.463000 36 25 6.05902e-23 6.16918e-23 1 1 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G G T rs121913254 TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:115256530G>T ENST00000369535.4 - 3 434 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 144 31 4.52276e-68 4.62339e-68 1 1 0 HELQ 113510 broad.mit.edu 37 4 84368028 84368028 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:84368028G>A ENST00000295488.3 - 4 1514 c.1352C>T c.(1351-1353)aCt>aTt p.T451I HELQ_ENST00000510985.1_Intron NM_133636.2 NP_598375.2 Q8TDG4 HELQ_HUMAN helicase, POLQ-like 451 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2) 38 AATTCTTCCAGTTTCAATCAA 0.328000 Other identified genes with known or suspected DNA repair function 26 54 0 0 1 0 0 LRRC32 2615 broad.mit.edu 37 11 76371451 76371451 + Missense_Mutation SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:76371451T>C ENST00000407242.2 - 3 1428 c.1186A>G c.(1186-1188)Aat>Gat p.N396D LRRC32_ENST00000404995.1_Missense_Mutation_p.N396D|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.N396D|AP001189.4_ENST00000447519.1_RNA NM_005512.2 NP_005503.1 Q14392 LRC32_HUMAN leucine rich repeat containing 32 396 integral to plasma membrane endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 CGCAGGGCATTGCCCTGTAGG 0.652000 12 11 0 0 1 0 0 TTLL5 23093 broad.mit.edu 37 14 76349196 76349196 + Missense_Mutation SNP C C T rs11844617 TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:76349196C>T ENST00000298832.9 + 30 3896 c.3691C>T c.(3691-3693)Ccc>Tcc p.P1231S TTLL5_ENST00000556893.1_Missense_Mutation_p.P782S|TTLL5_ENST00000554510.1_Missense_Mutation_p.P740S|TTLL5_ENST00000557636.1_Missense_Mutation_p.P1246S NM_015072.4 NP_055887.3 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 1231 P -> T (in dbSNP:rs11844617). protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 50 BRCA - Breast invasive adenocarcinoma(234;0.029) CAAACCCCCACCCAACCACGA 0.473000 16 59 0 0 1 0 0 VSIG2 23584 broad.mit.edu 37 11 124622007 124622007 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:124622007G>A ENST00000403470.1 - 1 82 c.27C>T c.(25-27)ctC>ctT p.L9L VSIG2_ENST00000326621.5_Silent_p.L9L Q96IQ7 VSIG2_HUMAN V-set and immunoglobulin domain containing 2 9 integral to plasma membrane|membrane fraction central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5) 19 all_hematologic(175;0.215) Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215) GGGCCCCGCAGAGAAAGGGCC 0.731000 6 8 0 0 1 0 0 SGMS1 259230 broad.mit.edu 37 10 52103313 52103313 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:52103313C>T ENST00000361781.2 - 7 1521 c.562G>A c.(562-564)Gaa>Aaa p.E188K SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000361543.2_Missense_Mutation_p.E188K NM_147156.3 NP_671512.1 Q86VZ5 SMS1_HUMAN sphingomyelin synthase 1 194 apoptosis|cell growth|sphingomyelin biosynthetic process endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 CCATTAATTTCACAAATAGAA 0.433000 21 5 0 0 1 0 0 OR11H6 122748 broad.mit.edu 37 14 20692623 20692623 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:20692623G>A ENST00000315519.2 + 1 833 c.755G>A c.(754-756)cGa>cAa p.R252Q NM_001004480.1 NP_001004480.1 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, member 6 252 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2) 29 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) GGTGCTGGTCGAACTAAAGCT 0.483000 16 39 0 0 1 0 0 FBXO44 93611 broad.mit.edu 37 1 11718796 11718796 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:11718796C>T ENST00000251546.4 + 4 604 c.367C>T c.(367-369)Cgc>Tgc p.R123C FBXO44_ENST00000251547.5_Silent_p.F164F|FBXO44_ENST00000376760.1_Missense_Mutation_p.R123C|FBXO44_ENST00000376768.1_Missense_Mutation_p.R155C|FBXO44_ENST00000376770.1_Silent_p.F164F|FBXO44_ENST00000376762.4_Missense_Mutation_p.R123C NM_183412.2 NP_904319.1 Q9H4M3 FBX44_HUMAN F-box protein 44 123 FBA. protein catabolic process SCF ubiquitin ligase complex protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 8 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) CCTGCAGGTTCGCAGCCAGGC 0.706000 20 90 0 0 1 0 0 ATP10D 57205 broad.mit.edu 37 4 47570981 47570981 + Missense_Mutation SNP G G A rs147568390 byFrequency TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:47570981G>A ENST00000273859.3 + 16 3250 c.2981G>A c.(2980-2982)cGa>cAa p.R994Q NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 994 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 TCAGGGTTACGAGCTGGACTC 0.483000 20 59 0 0 1 0 0 KIF15 56992 broad.mit.edu 37 3 44816861 44816861 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:44816861C>T ENST00000326047.4 + 3 327 c.178C>T c.(178-180)Cgg>Tgg p.R60W NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 60 Kinesin-motor. blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) CACGAGTCTCCGGCTGCACTC 0.448000 13 36 0 0 1 0 0 OXTR 5021 broad.mit.edu 37 3 8809178 8809178 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:8809178C>T ENST00000316793.3 - 3 1320 c.696G>A c.(694-696)cgG>cgA p.R232R CAV3_ENST00000472766.1_Intron NM_000916.3 NP_000907.2 P30559 OXYR_HUMAN oxytocin receptor 232 female pregnancy|lactation|muscle contraction integral to plasma membrane oxytocin receptor activity|vasopressin receptor activity NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(96;0.15) Carbetocin(DB01282) CGGTCTTGAGCCGCAAGTTCT 0.662000 6 8 0 0 1 0 0 NPY4R 5540 broad.mit.edu 37 10 47087903 47087903 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:47087903C>T ENST00000374312.1 + 3 1539 c.1120C>T c.(1120-1122)Ccc>Tcc p.P374S NPY4R_ENST00000395716.1_Missense_Mutation_p.P374S NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 CAGGTCCAATCCCATTTAACC 0.592000 24 42 0 0 1 0 0 LAPTM5 7805 broad.mit.edu 37 1 31214502 31214502 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:31214502C>T ENST00000294507.3 - 3 317 c.243G>A c.(241-243)ctG>ctA p.L81L NM_006762.2 NP_006753.1 Q13571 LAPM5_HUMAN lysosomal protein transmembrane 5 81 transport integral to plasma membrane|lysosomal membrane large_intestine(2)|lung(7)|skin(1) 10 Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192) STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649) CTACGCCGATCAGTAGGCTCA 0.612000 13 1 0 0 1 0 0 SRGAP2 23380 broad.mit.edu 37 1 206632056 206632056 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:206632056C>T ENST00000419187.2 + 19 2212 c.549C>T c.(547-549)tcC>tcT p.183_183insS SRGAP2_ENST00000414007.1_Silent_p.S725S O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 0 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(1)|breast(1)|kidney(1)|lung(1) 4 Breast(84;0.137) CTGACTCCTCCTCCCCAGGGG 0.582000 5 22 0 0 1 0 0 RUSC2 9853 broad.mit.edu 37 9 35555193 35555193 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:35555193C>T ENST00000455600.1 + 3 2720 c.2151C>T c.(2149-2151)tcC>tcT p.S717S NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 717 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) ACAGCCTTTCCCAGCTCTACA 0.652000 22 78 0 0 1 0 0 LOXL2 4017 broad.mit.edu 37 8 23217644 23217644 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:23217644G>A ENST00000389131.3 - 3 859 c.490C>T c.(490-492)Cct>Tct p.P164S RP11-177H13.2_ENST00000519692.1_RNA NM_002318.2 NP_002309.1 Q9Y4K0 LOXL2_HUMAN lysyl oxidase-like 2 164 aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) TTGAACCCAGGAATCCTTTTG 0.498000 19 20 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10265785 10265785 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:10265785C>T ENST00000418404.3 - 3 403 c.240G>A c.(238-240)atG>atA p.M80I MYH13_ENST00000570743.1_Missense_Mutation_p.M80I|MYH13_ENST00000252172.4_Missense_Mutation_p.M80I Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 80 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TGGGAGGGTTCATGGGGAAGA 0.483000 67 14 0 0 1 0 0 ERN2 10595 broad.mit.edu 37 16 23718370 23718370 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:23718370G>A ENST00000256797.4 - 5 649 c.481C>T c.(481-483)Cat>Tat p.H161Y ERN2_ENST00000457008.2_Missense_Mutation_p.H113Y NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 113 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) GGAGAGGCATGAACCAGCTCA 0.552000 15 19 0 0 1 0 0 PPIAL4G 644591 broad.mit.edu 37 1 143767491 143767491 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:143767491C>T ENST00000419275.1 - 1 390 c.358G>A c.(358-360)Gag>Aag p.E120K NM_001123068.1 NP_001116540.1 A2BFH1 PAL4G_HUMAN peptidylprolyl isomerase A (cyclophilin A)-like 4G 120 PPIase cyclophilin-type. protein folding cytoplasm peptidyl-prolyl cis-trans isomerase activity breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1) 14 TCCAACCACTCAGTCTTGGCA 0.488000 89 270 0 0 1 0 0 NGB 58157 broad.mit.edu 37 14 77734832 77734832 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:77734832C>T ENST00000298352.4 - 3 672 c.298G>A c.(298-300)Ggt>Agt p.G100S NM_021257.3 NP_067080.1 Q9NPG2 NGB_HUMAN neuroglobin 100 Globin. hemoglobin complex heme binding|oxygen binding|oxygen transporter activity endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 8 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0273) AGCTTCACACCCACTGCCCGG 0.602000 35 20 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73829471 73829471 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:73829471C>T ENST00000264448.6 + 20 12382 c.12271C>T c.(12271-12273)Cgc>Tgc p.R4091C ALMS1_ENST00000464408.2_3'UTR|ALMS1_ENST00000409009.1_Missense_Mutation_p.R4049C NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 4091 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 CCACCAGAATCGCATGTGCCC 0.562000 37 18 0 0 1 0 0 PDLIM4 8572 broad.mit.edu 37 5 131606686 131606686 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:131606686C>T ENST00000253754.3 + 4 470 c.406C>T c.(406-408)Cca>Tca p.P136S PDLIM4_ENST00000379018.3_Missense_Mutation_p.P136S|P4HA2_ENST00000471826.1_Intron|PDLIM4_ENST00000484620.1_3'UTR NM_001131027.1|NM_003687.3 NP_001124499.1|NP_003678.2 P50479 PDLI4_HUMAN PDZ and LIM domain 4 136 protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1) 10 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCTGGGATCTCCATATGGACA 0.632000 74 16 0 0 1 0 0 MICALL1 85377 broad.mit.edu 37 22 38318091 38318091 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:38318091G>A ENST00000215957.6 + 6 808 c.682G>A c.(682-684)Ggg>Agg p.G228R NM_033386.3 NP_203744.1 Q8N3F8 MILK1_HUMAN MICAL-like 1 228 cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) GACACGGTCGGGGACCAGGCC 0.647000 20 47 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114195792 114195792 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:114195792C>T ENST00000357077.4 + 15 1723 c.1670C>T c.(1669-1671)tCc>tTc p.S557F ANK2_ENST00000394537.3_Missense_Mutation_p.S557F|ANK2_ENST00000264366.6_Missense_Mutation_p.S557F|ANK2_ENST00000506722.1_Missense_Mutation_p.S536F NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 557 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GCAGCCCACTCCTTAGCTACC 0.522000 7 24 0 0 1 0 0 EZR 7430 broad.mit.edu 37 6 159206477 159206477 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:159206477G>A ENST00000367075.3 - 5 499 c.331C>T c.(331-333)Ctt>Ttt p.L111F EZR_ENST00000476189.1_5'UTR|EZR_ENST00000392177.4_Missense_Mutation_p.L79F|EZR_ENST00000337147.7_Missense_Mutation_p.L111F NM_001111077.1 NP_001104547.1 P15311 EZRI_HUMAN ezrin 111 FERM. actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane actin filament binding|cell adhesion molecule binding EZR/ROS1(4) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2) 15 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06) TCATCGCTAAGGATTCCTTCC 0.527000 T ROS1 NSCLC 23 18 0 0 1 0 0 ZNF12 7559 broad.mit.edu 37 7 6732100 6732100 + Missense_Mutation SNP C C G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:6732100C>G ENST00000405858.1 - 5 1014 c.473G>C c.(472-474)gGa>gCa p.G158A ZNF12_ENST00000342651.5_Missense_Mutation_p.G120A|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.G84A NM_006956.2|NM_016265.3 NP_008887.2|NP_057349.2 P17014 ZNF12_HUMAN zinc finger protein 12 158 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3) 16 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) TGCATAGCTTCCATCACTACT 0.373000 14 33 0 0 1 0 0 IGHV3-30 28439 broad.mit.edu 37 14 106791273 106791273 + RNA SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:106791273C>T ENST00000390613.2 - 0 162 GACCACGCCTCCCCCAGACTC 0.562000 55 201 0 0 1 0 0 PDE11A 50940 broad.mit.edu 37 2 178704995 178704995 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:178704995G>A ENST00000286063.5 - 6 1800 c.1483C>T c.(1483-1485)Ccg>Tcg p.P495S PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000449286.2_Missense_Mutation_p.P137S|PDE11A_ENST00000389683.3_Missense_Mutation_p.P51S|PDE11A_ENST00000409504.1_Missense_Mutation_p.P137S|PDE11A_ENST00000358450.4_Missense_Mutation_p.P245S NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A 495 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) TCAAAGCGCGGATCCTGGTAG 0.453000 Primary Pigmented Nodular Adrenocortical Disease, Familial 14 43 0 0 1 0 0 MAP1LC3A 84557 broad.mit.edu 37 20 33137834 33137834 + Splice_Site SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:33137834G>A ENST00000374837.3 + 2 188 c.e2+1 NM_181509.2 NP_852610.1 Q9H492 MLP3A_HUMAN microtubule-associated protein 1 light chain 3 alpha autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule phosphatidylethanolamine binding|protein binding cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2) 5 GTGGACCCAGGTCTGTCTGGC 0.572000 12 41 0 0 1 0 0 ITGAX 3687 broad.mit.edu 37 16 31391630 31391630 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:31391630C>T ENST00000268296.4 + 27 3225 c.3104C>T c.(3103-3105)cCc>cTc p.P1035L ITGAX_ENST00000562522.1_Missense_Mutation_p.P1035L NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 1035 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 TGTGACGTCCCCTCCTTCAGC 0.612000 13 18 0 0 1 0 0 OR51L1 119682 broad.mit.edu 37 11 5020782 5020782 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:5020782C>T ENST00000321543.1 + 1 570 c.570C>T c.(568-570)tcC>tcT p.S190S NM_001004755.1 NP_001004755.1 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, member 1 190 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) TAAGATTATCCTGTACAGATG 0.438000 41 27 0 0 1 0 0 FTCD 10841 broad.mit.edu 37 21 47571477 47571477 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr21:47571477C>T ENST00000397748.1 - 5 674 c.631G>A c.(631-633)Gac>Aac p.D211N FTCD_ENST00000397746.3_Missense_Mutation_p.D211N|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397743.1_Missense_Mutation_p.D211N|FTCD_ENST00000355384.2_Missense_Mutation_p.D211N|FTCD_ENST00000291670.5_Missense_Mutation_p.D211N|FTCD_ENST00000359679.2_Missense_Mutation_p.D211N O95954 FTCD_HUMAN formimidoyltransferase cyclodeaminase 211 Formiminotransferase C-subdomain (By similarity). folic acid-containing compound metabolic process|histidine catabolic process centriole|cytosol|Golgi apparatus folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3) 19 Breast(49;0.214) Colorectal(79;0.235) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) GTCACCTGGTCCTTCCCGCGG 0.647000 25 46 0 0 1 0 0 HACE1 57531 broad.mit.edu 37 6 105244589 105244589 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:105244589G>A ENST00000262903.4 - 9 1033 c.757C>T c.(757-759)Ccg>Tcg p.P253S HACE1_ENST00000369125.2_Missense_Mutation_p.P253S NM_020771.3 NP_065822.2 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 253 protein ubiquitination involved in ubiquitin-dependent protein catabolic process endoplasmic reticulum ubiquitin-protein ligase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 44 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) AAAAGCCTCGGGTGATATTGA 0.328000 18 8 0 0 1 0 0 USP13 8975 broad.mit.edu 37 3 179437811 179437811 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:179437811C>T ENST00000263966.3 + 7 1360 c.889C>T c.(889-891)Cat>Tat p.H297Y USP13_ENST00000496897.1_Missense_Mutation_p.H232Y|USP13_ENST00000482333.1_3'UTR NM_003940.2 NP_003931.2 Q92995 UBP13_HUMAN ubiquitin specific peptidase 13 (isopeptidase T-3) 297 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding p.H297N(1) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 46 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) TGATATGCTTCATATGCATGG 0.413000 366 33 0 0 1 0 0 AKNA 80709 broad.mit.edu 37 9 117113183 117113183 + Silent SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:117113183T>C ENST00000307564.4 - 15 3338 c.3177A>G c.(3175-3177)ccA>ccG p.P1059P AKNA_ENST00000374088.3_Silent_p.P1059P|AKNA_ENST00000223791.3_Silent_p.P519P|AKNA_ENST00000374075.5_Silent_p.P978P NM_030767.4 NP_110394.3 Q7Z591 AKNA_HUMAN AT-hook transcription factor 1059 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 TGGTCTCTGTTGGTCCACAGG 0.597000 48 29 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57767840 57767840 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:57767840G>A ENST00000371030.2 + 1 1766 c.1766G>A c.(1765-1767)aGa>aAa p.R589K NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 589 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GACGCAAAGAGAACTGCTGCG 0.682000 9 51 0 0 1 0 0 ADAM33 80332 broad.mit.edu 37 20 3649647 3649647 + Splice_Site SNP G G T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:3649647G>T ENST00000356518.2 - 22 2646 c.2404_splice c.e22-1 p.A802_splice ADAM33_ENST00000379861.4_Intron|ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000350009.2_Splice_Site_p.A776_splice NM_025220.2 NP_079496.1 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 802 Missing (in Ref. 2; AAM80482/AAM80483). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3) 29 GACTTGATCTGCTGAGAATGA 0.537000 21 179 2.98393e-07 3.00743e-07 1 1 0 TAS2R41 259287 broad.mit.edu 37 7 143175418 143175418 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:143175418G>A ENST00000408916.1 + 1 453 c.453G>A c.(451-453)gtG>gtA p.V151V EPHA1-AS1_ENST00000429289.1_RNA NM_176883.2 NP_795364.2 P59536 T2R41_HUMAN taste receptor, type 2, member 41 151 sensory perception of taste integral to membrane G-protein coupled receptor activity endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) TTTTTTGGGTGAACTACCCTG 0.448000 8 26 0 0 1 0 0 PHEX 5251 broad.mit.edu 37 X 22129637 22129637 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:22129637C>T ENST00000379374.4 + 10 1697 c.1132C>T c.(1132-1134)Ctt>Ttt p.L378F PHEX_ENST00000535894.1_Missense_Mutation_p.L281F|PHEX_ENST00000537599.1_Missense_Mutation_p.L378F|PHEX_ENST00000418858.3_Missense_Mutation_p.L81F NM_000444.4 NP_000435.3 P78562 PHEX_HUMAN phosphate regulating endopeptidase homolog, X-linked 378 biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 42 AATTCCAAACCTTAGCAGGCG 0.393000 85 12 0 0 1 0 0 GPR156 165829 broad.mit.edu 37 3 119886852 119886852 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:119886852G>A ENST00000464295.1 - 10 1917 c.1472C>T c.(1471-1473)cCa>cTa p.P491L GPR156_ENST00000315843.3_Missense_Mutation_p.P491L|GPR156_ENST00000461057.1_Missense_Mutation_p.P487L Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 491 integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1) 32 GBM - Glioblastoma multiforme(114;0.19) CTCAGTCCATGGCTTCTGGCT 0.537000 39 107 0 0 1 0 0 OR6F1 343169 broad.mit.edu 37 1 247875554 247875554 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:247875554G>A ENST00000302084.2 - 1 551 c.504C>T c.(502-504)ttC>ttT p.F168F RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 168 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F168F(1) breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-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) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GGGGGCCACAGAAGGACAGGC 0.597000 105 36 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 121008170 121008170 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:121008170C>T ENST00000392793.1 + 11 3253 c.2982C>T c.(2980-2982)atC>atT p.I994I TECTA_ENST00000264037.2_Silent_p.I994I O75443 TECTA_HUMAN tectorin alpha 994 TIL 2. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) AGGAGTGCATCACATGTACAG 0.537000 15 36 0 0 1 0 0 LEPR 3953 broad.mit.edu 37 1 66088592 66088592 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:66088592G>A ENST00000349533.6 + 19 2786 c.2601G>A c.(2599-2601)atG>atA p.M867I LEPR_ENST00000371058.1_Missense_Mutation_p.M867I|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Missense_Mutation_p.M867I|LEPR_ENST00000371060.3_Missense_Mutation_p.M867I|LEPR_ENST00000344610.8_Missense_Mutation_p.M867I NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 867 energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) TTTGTAGAATGAAAAAGCTAT 0.358000 8 46 0 0 1 0 0 ALDH7A1 501 broad.mit.edu 37 5 125894994 125894994 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:125894994G>A ENST00000409134.3 - 11 1165 c.946C>T c.(946-948)Cca>Tca p.P316S ALDH7A1_ENST00000447989.2_Missense_Mutation_p.P343S|ALDH7A1_ENST00000553117.1_Missense_Mutation_p.P316S NM_001182.4|NM_001201377.1 NP_001173.2|NP_001188306.1 P49419 AL7A1_HUMAN aldehyde dehydrogenase 7 family, member A1 316 cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound cytosol|mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 16 all_cancers(142;0.24)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109) NADH(DB00157)|Pyridoxine(DB00165) AGAGCTGATGGAACAACTAAG 0.488000 15 4 0 0 1 0 0 POF1B 79983 broad.mit.edu 37 X 84537324 84537324 + Splice_Site SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:84537324C>T ENST00000262753.4 - 16 1795 c.e16-1 POF1B_ENST00000373145.3_Splice_Site NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 TGTCCTGTACCTGTTGGCAAG 0.383000 21 2 0 0 1 0 0 BOD1L2 284257 broad.mit.edu 37 18 54814883 54814883 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr18:54814883G>A ENST00000585477.1 + 1 591 c.340G>A c.(340-342)Gct>Act p.A114T NM_001257964.1 NP_001244893.1 biorientation of chromosomes in cell division 1-like 2 GAGGTCAGAAGCTGGAGTGGA 0.488000 14 21 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178409974 178409974 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:178409974G>A ENST00000231188.5 - 9 2551 c.2373C>T c.(2371-2373)acC>acT p.T791T GRM6_ENST00000517717.1_Silent_p.T791T|RP11-281O15.4_ENST00000519491.1_RNA NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 791 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) TGATGCAGGTGGTGTACATGG 0.592000 22 9 0 0 1 0 0 PRKD1 5587 broad.mit.edu 37 14 30068238 30068238 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:30068238G>A ENST00000331968.5 - 15 2390 c.2161C>T c.(2161-2163)Cct>Tct p.P721S PRKD1_ENST00000415220.2_Missense_Mutation_p.P729S NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 721 Protein kinase. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) CTTGCCTGAGGAAAAGGATCA 0.423000 4 91 0 0 1 0 0 ZNF532 55205 broad.mit.edu 37 18 56586122 56586122 + Silent SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr18:56586122T>C ENST00000336078.4 + 4 1379 c.603T>C c.(601-603)gtT>gtC p.V201V ZNF532_ENST00000591808.1_Silent_p.V201V|ZNF532_ENST00000589288.1_Silent_p.V201V|ZNF532_ENST00000591230.1_Silent_p.V201V|ZNF532_ENST00000591083.1_Silent_p.V201V NM_018181.4 NP_060651.2 Q9HCE3 ZN532_HUMAN zinc finger protein 532 201 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 ACAAAGCTGTTAAGAGAGAAA 0.443000 71 94 0 0 1 0 0 OR1L1 26737 broad.mit.edu 37 9 125423983 125423983 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:125423983G>A ENST00000373686.1 + 1 139 c.139G>A c.(139-141)Gaa>Aaa p.E47K Q8NH94 OR1L1_HUMAN olfactory receptor, family 1, subfamily L, member 1 47 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1) 17 ATCTTTAGGTGAACCCACAAC 0.388000 25 21 0 0 1 0 0 SPAG5 10615 broad.mit.edu 37 17 26918885 26918885 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:26918885G>A ENST00000321765.5 - 4 1600 c.1268C>T c.(1267-1269)cCt>cTt p.P423L NM_006461.3 NP_006452.3 Q96R06 SPAG5_HUMAN sperm associated antigen 5 423 cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 Lung NSC(42;0.00431) CAGATCTGGAGGCCGGCTGCA 0.542000 28 14 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35740309 35740309 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:35740309C>T ENST00000440995.2 + 23 3255 c.3255C>T c.(3253-3255)tcC>tcT p.S1085S CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Silent_p.S1090S Q9C093 SPEF2_HUMAN sperm flagellar 2 1090 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ATTTCAACTCCCTTCCTGATG 0.438000 35 62 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102467310 102467310 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:102467310C>T ENST00000360184.4 + 19 4258 c.4094C>T c.(4093-4095)gCc>gTc p.A1365V NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 1365 Stem (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 AATTTGGATGCCCTCCTGAAC 0.418000 35 95 0 0 1 0 0 ELN 2006 broad.mit.edu 37 7 73483003 73483003 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:73483003G>A ENST00000252034.7 + 33 2547 c.2148G>A c.(2146-2148)ggG>ggA p.G716G ELN_ENST00000320492.7_Silent_p.G635G|ELN_ENST00000380584.4_Silent_p.G650G|ELN_ENST00000320399.6_Silent_p.G749G|ELN_ENST00000358929.4_Silent_p.G784G|ELN_ENST00000380553.4_Silent_p.G562G|ELN_ENST00000380562.4_Silent_p.G722G|ELN_ENST00000458204.1_Silent_p.G706G|ELN_ENST00000414324.1_Silent_p.G692G|ELN_ENST00000357036.5_Silent_p.G703G|ELN_ENST00000380575.4_Silent_p.G669G|ELN_ENST00000429192.1_Silent_p.G684G|ELN_ENST00000445912.1_Silent_p.G698G|ELN_ENST00000380576.5_Silent_p.G697G NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 778 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) CCTGCCTGGGGAAAGCTTGTG 0.577000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 21 23 0 0 1 0 0 UCHL3 7347 broad.mit.edu 37 13 76134927 76134927 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr13:76134927C>T ENST00000377595.3 + 3 123 c.93C>T c.(91-93)ttC>ttT p.F31F RP11-29G8.3_ENST00000563635.1_RNA NM_001270952.1|NM_006002.3 NP_001257881.1|NP_005993.1 P15374 UCHL3_HUMAN ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) 31 ubiquitin-dependent protein catabolic process cytoplasm cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity p.F31F(1) kidney(1)|large_intestine(2)|lung(3)|skin(1) 7 GBM - Glioblastoma multiforme(99;0.0125) ACTGGCAATTCGTTGATGTAT 0.338000 20 15 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7548808 7548808 + Missense_Mutation SNP T T A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:7548808T>A ENST00000313599.3 - 8 1990 c.1933A>T c.(1933-1935)Att>Ttt p.I645F CD163L1_ENST00000416109.2_Missense_Mutation_p.I655F|CD163L1_ENST00000396630.1_Missense_Mutation_p.I645F Q9NR16 C163B_HUMAN CD163 molecule-like 1 645 SRCR 6. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 TCGAGCCAAATTTTTCCATAT 0.483000 10 14 0 0 1 0 0 CNTN1 1272 broad.mit.edu 37 12 41365276 41365276 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:41365276C>T ENST00000547849.1 + 16 2164 c.1845C>T c.(1843-1845)tcC>tcT p.S615S CNTN1_ENST00000347616.1_Intron|CNTN1_ENST00000551295.2_Intron|CNTN1_ENST00000348761.2_Intron|CNTN1_ENST00000360099.3_Silent_p.S615S|CNTN1_ENST00000547702.1_Silent_p.S615S NM_001256064.1 NP_001242993.1 Q12860 CNTN1_HUMAN contactin 1 0 Fibronectin type-III 1. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TGGTGGATTCCTTTCTCCCCG 0.433000 7 16 0 0 1 0 0 NSMAF 8439 broad.mit.edu 37 8 59509987 59509987 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:59509987G>A ENST00000038176.3 - 21 1963 c.1751C>T c.(1750-1752)tCc>tTc p.S584F NSMAF_ENST00000427130.2_Missense_Mutation_p.S615F NM_003580.3 NP_003571.2 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation associated factor 584 ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 38 all_lung(136;0.174)|Lung NSC(129;0.2) GGAGGTCTGGGACAAACTTTT 0.403000 85 79 0 0 1 0 0 RIMS4 140730 broad.mit.edu 37 20 43386718 43386718 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:43386718G>A ENST00000372851.3 - 3 410 c.344C>T c.(343-345)cCc>cTc p.P115L RIMS4_ENST00000541604.2_Missense_Mutation_p.P116L NM_001205317.1|NM_182970.3 NP_001192246.1|NP_892015.1 Q9H426 RIMS4_HUMAN regulating synaptic membrane exocytosis 4 115 C2. exocytosis|neurotransmitter transport cell junction|synapse central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1) 29 Myeloproliferative disorder(115;0.0122) CTCACCCATGGGTGTGGTGGC 0.602000 27 58 0 0 1 0 0 ATXN2 6311 broad.mit.edu 37 12 111990157 111990157 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:111990157C>T ENST00000377617.3 - 5 1139 c.978G>A c.(976-978)gaG>gaA p.E326E ATXN2_ENST00000549455.1_Intron|ATXN2_ENST00000550104.1_Silent_p.E326E|ATXN2_ENST00000542287.2_Silent_p.E61E|ATXN2_ENST00000535949.1_Silent_p.E37E|ATXN2_ENST00000389153.4_Silent_p.E61E NM_002973.3 NP_002964.3 Q99700 ATX2_HUMAN ataxin 2 326 cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 ACAAAATACTCTCCATTATTT 0.373000 4 28 0 0 1 0 0 CYP4F3 4051 broad.mit.edu 37 19 15756624 15756624 + Silent SNP C C T rs116936513 by1000genomes TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:15756624C>T ENST00000221307.7 + 3 342 c.294C>T c.(292-294)atC>atT p.I98I CYP4F3_ENST00000586182.1_Intron|CYP4F3_ENST00000591058.1_Intron|CYP4F3_ENST00000585846.1_Intron NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 98 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding p.I98I(1) endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 GGCACGCAATCGTCCGCATCT 0.582000 24 17 0 0 1 0 0 ADCK1 57143 broad.mit.edu 37 14 78392252 78392252 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:78392252C>T ENST00000238561.5 + 9 1253 c.1154C>T c.(1153-1155)tCg>tTg p.S385L ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.S317L NM_020421.3 NP_065154.2 Q86TW2 ADCK1_HUMAN aarF domain containing kinase 1 392 Protein kinase. extracellular region ATP binding|protein serine/threonine kinase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2) 25 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0376) ACGGCGCGATCGTGGGACTCG 0.602000 54 185 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117768733 117768733 + Missense_Mutation SNP G G A rs80348085 TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:117768733G>A ENST00000317775.6 - 2 827 c.142C>T c.(142-144)Cgt>Tgt p.R48C NOS1_ENST00000344089.3_Missense_Mutation_p.R48C|NOS1_ENST00000338101.4_Missense_Mutation_p.R48C NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 48 Interaction with NOSIP (By similarity).|PDZ. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding p.R48C(2) NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GCGCCCCCACGAATCAGGTCA 0.597000 20 42 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70954605 70954605 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:70954605C>T ENST00000393567.2 - 46 7824 c.7674G>A c.(7672-7674)ggG>ggA p.G2558G NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2558 G -> E (in dbSNP:rs8044142). breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) tctccttcttcccttcgtggt 0.632000 6 8 0 0 1 0 0 KLHDC8A 55220 broad.mit.edu 37 1 205312494 205312494 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:205312494C>T ENST00000367156.3 - 5 1055 c.239G>A c.(238-240)cGg>cAg p.R80Q KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.R80Q|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.R80Q NM_001271863.1 NP_001258792.1 Q8IYD2 KLD8A_HUMAN kelch domain containing 8A 80 breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(84;0.23) BRCA - Breast invasive adenocarcinoma(75;0.117) CACCATGATCCGCTTCCCCAG 0.657000 34 220 0 0 1 0 0 ZNF525 170958 broad.mit.edu 37 19 53884473 53884473 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:53884473C>T ENST00000467003.1 + 4 734 c.533C>T c.(532-534)tCt>tTt p.S178F ZNF525_ENST00000474037.1_Missense_Mutation_p.S214F|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000475179.1_Intron zinc finger protein 525 endometrium(3)|kidney(3)|lung(3) 9 AGAGAAAAATCTTTCCAATGT 0.333000 29 19 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136566232 136566232 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:136566232C>T ENST00000264162.2 - 8 3695 c.3685G>A c.(3685-3687)Gac>Aac p.D1229N NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1229 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) ATCTCCTGGTCGTCTTCGTAG 0.592000 23 124 0 0 1 0 0 PI4KB 5298 broad.mit.edu 37 1 151282724 151282724 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:151282724G>A ENST00000368875.2 - 4 1533 c.953C>T c.(952-954)tCc>tTc p.S318F PI4KB_ENST00000368873.1_Missense_Mutation_p.S306F|PI4KB_ENST00000271657.5_Missense_Mutation_p.S318F|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368874.4_Intron|PI4KB_ENST00000368872.1_Intron NM_002651.2 NP_002642.1 Q9UBF8 PI4KB_HUMAN phosphatidylinositol 4-kinase, catalytic, beta 306 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GGTGCTGGAGGAGAGCTCCTg 0.577000 3 16 0 0 1 0 0 ERN2 10595 broad.mit.edu 37 16 23712304 23712304 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:23712304C>T ENST00000256797.4 - 12 1647 c.1479G>A c.(1477-1479)ggG>ggA p.G493G ERN2_ENST00000457008.2_Intron NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 445 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) AGAGAATCCACCCTCCCAGGA 0.572000 25 45 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77692498 77692498 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr13:77692498G>A ENST00000360084.5 - 57 8275 c.572C>T c.(571-573)tCc>tTc p.S191F MYCBP2_ENST00000407578.2_Intron|MYCBP2_ENST00000544440.2_Intron|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000357337.6_Intron O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 2674 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CTGCTGGAAGGAAAGGGGCTG 0.483000 5 10 0 0 1 0 0 AKNA 80709 broad.mit.edu 37 9 117138749 117138749 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:117138749G>A ENST00000307564.4 - 3 1499 c.1338C>T c.(1336-1338)ctC>ctT p.L446L AKNA_ENST00000374088.3_Silent_p.L446L|AKNA_ENST00000312033.3_Silent_p.L446L|AKNA_ENST00000223791.3_5'UTR|AKNA_ENST00000374075.5_Silent_p.L365L NM_030767.4 NP_110394.3 Q7Z591 AKNA_HUMAN AT-hook transcription factor 446 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.L446L(1) breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 CACTAACCTGGAGCTGATGGA 0.602000 8 36 0 0 1 0 0 OR2G2 81470 broad.mit.edu 37 1 247751917 247751917 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:247751917G>A ENST00000320065.1 + 1 256 c.256G>A c.(256-258)Gta>Ata p.V86I RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-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) OV - Ovarian serous cystadenocarcinoma(106;0.017) CCAGCTCCTGGTAAACCTGTG 0.522000 22 153 0 0 1 0 0 DPYS 1807 broad.mit.edu 37 8 105405118 105405118 + Missense_Mutation SNP A A T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:105405118A>T ENST00000351513.2 - 8 1469 c.1337T>A c.(1336-1338)gTg>gAg p.V446E DPYS_ENST00000521601.1_Intron NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 446 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) TTCATATACCACTTTGCCTCT 0.438000 78 82 0 0 1 0 0 ZFP82 284406 broad.mit.edu 37 19 36884680 36884680 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:36884680G>A ENST00000392161.3 - 5 804 c.562C>T c.(562-564)Cat>Tat p.H188Y ZFP82_ENST00000392171.1_Missense_Mutation_p.H188Y NM_133466.2 NP_597723.1 Q8N141 ZFP82_HUMAN ZFP82 zinc finger protein 188 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 ATTCTGTGATGAAAAGTAAGC 0.428000 13 35 0 0 1 0 0 REST 5978 broad.mit.edu 37 4 57796967 57796967 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:57796967C>T ENST00000309042.7 + 4 2257 c.1943C>T c.(1942-1944)cCt>cTt p.P648L NM_001193508.1|NM_005612.4 NP_001180437.1|NP_005603.3 Q13127 REST_HUMAN RE1-silencing transcription factor 648 Pro-rich. cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 50 Glioma(25;0.08)|all_neural(26;0.181) CGGCCTGCTCCTGACGAGCCT 0.632000 7 22 0 0 1 0 0 SLC2A6 11182 broad.mit.edu 37 9 136341422 136341422 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:136341422C>T ENST00000371899.4 - 4 576 c.499G>A c.(499-501)Ggg>Agg p.G167R SLC2A6_ENST00000371897.4_Missense_Mutation_p.G167R|SLC2A6_ENST00000485978.1_5'UTR NM_017585.3 NP_060055.2 Q9UGQ3 GTR6_HUMAN solute carrier family 2 (facilitated glucose transporter), member 6 167 integral to membrane|plasma membrane D-glucose transmembrane transporter activity cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05) CCCAGAGCCCCACGAACGCCT 0.622000 14 27 0 0 1 0 0 NOX1 27035 broad.mit.edu 37 X 100118164 100118164 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:100118164C>T ENST00000372966.3 - 4 526 c.321G>A c.(319-321)atG>atA p.M107I NOX1_ENST00000372960.4_Missense_Mutation_p.M70I|NOX1_ENST00000372964.1_Missense_Mutation_p.M107I|NOX1_ENST00000217885.5_Missense_Mutation_p.M107I NM_007052.4|NM_013955.2 NP_008983.2|NP_039249.1 Q9Y5S8 NOX1_HUMAN NADPH oxidase 1 107 Ferric oxidoreductase. angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation cell junction|early endosome|invadopodium membrane|NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity cervix(1)|lung(3)|ovary(1)|skin(2) 7 GTAGGCAGATCATATAGGCCA 0.438000 72 10 0 0 1 0 0 SHROOM3 57619 broad.mit.edu 37 4 77676127 77676127 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:77676127C>T ENST00000296043.6 + 7 5444 c.4491C>T c.(4489-4491)tcC>tcT p.S1497S NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 1497 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) TGCGGGACTCCCCGCCACCTC 0.587000 25 27 0 0 1 0 0 BMP2 650 broad.mit.edu 37 20 6750866 6750866 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:6750866G>A ENST00000378827.4 + 2 1312 c.93G>A c.(91-93)agG>agA p.R31R NM_001200.2 NP_001191.1 P12643 BMP2_HUMAN bone morphogenetic protein 2 31 BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1) 13 Simvastatin(DB00641) TGGGCCGCAGGAAGTTCGCGG 0.692000 5 11 0 0 1 0 0 MCF2L2 23101 broad.mit.edu 37 3 183006964 183006964 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:183006964C>T ENST00000328913.3 - 14 2017 c.1720G>A c.(1720-1722)Gag>Aag p.E574K MCF2L2_ENST00000447025.2_Missense_Mutation_p.E574K|MCF2L2_ENST00000414362.2_Missense_Mutation_p.E574K|B3GNT5_ENST00000462559.1_Intron|MCF2L2_ENST00000473233.1_Missense_Mutation_p.E574K NM_015078.2 NP_055893.2 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 574 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) AACTCTGTCTCCGTATAAGGT 0.398000 9 10 0 0 1 0 0 CD1A 909 broad.mit.edu 37 1 158224896 158224896 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:158224896C>T ENST00000289429.5 + 2 614 c.81C>T c.(79-81)ttC>ttT p.F27F NM_001763.2 NP_001754.2 P06126 CD1A_HUMAN CD1a molecule 27 antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 32 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) CTCTCTCCTTCCATGTCACCT 0.488000 20 99 0 0 1 0 0 TRAV9-2 28677 broad.mit.edu 37 14 22409792 22409792 + RNA SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:22409792G>A ENST00000390441.2 + 0 338 CTTTCCACTTGGAGAAAGGCT 0.502000 28 26 0 0 1 0 0 IQCH 64799 broad.mit.edu 37 15 67709361 67709361 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr15:67709361G>A ENST00000335894.4 + 15 2256 c.2190G>A c.(2188-2190)agG>agA p.R730R IQCH_ENST00000358767.3_Silent_p.R466R|IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000360277.4_Silent_p.R391R|IQCH_ENST00000546225.1_Silent_p.R387R NM_001031715.2 NP_001026885.1 Q86VS3 IQCH_HUMAN IQ motif containing H 730 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) CGACGTGGAGGAAATTCCTCC 0.463000 24 2 0 0 1 0 0 ACTL8 81569 broad.mit.edu 37 1 18149678 18149678 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:18149678C>T ENST00000375406.1 + 2 391 c.175C>T c.(175-177)Cat>Tat p.H59Y NM_030812.2 NP_110439.2 Q9H568 ACTL8_HUMAN actin-like 8 59 cytoplasm|cytoskeleton NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 28 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) CGACATTTGCCATCCTGACAC 0.577000 21 136 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179419360 179419360 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:179419360C>T ENST00000589042.1 - 332 88938 c.88714G>A c.(88714-88716)Gaa>Aaa p.E29572K TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E20507K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E20699K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E20632K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E27931K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E27004K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 27931 Ig-like 135. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCACGCTTTTCCACAATGTAG 0.433000 12 67 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117342748 117342748 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:117342748G>A ENST00000321322.6 - 15 2970 c.2969C>T c.(2968-2970)tCc>tTc p.S990F DSCAML1_ENST00000527706.1_Missense_Mutation_p.S720F NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 930 Fibronectin type-III 2. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GAAGTCCCAGGAATCTGGAGA 0.527000 23 20 0 0 1 0 0 PLEKHH1 57475 broad.mit.edu 37 14 68028984 68028984 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:68028984G>A ENST00000329153.5 + 7 768 c.636G>A c.(634-636)aaG>aaA p.K212K NM_020715.2 NP_065766.1 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 212 cytoskeleton binding endometrium(2)|kidney(4)|lung(12)|urinary_tract(1) 19 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) AGGGTCTGAAGGCAGCTGTGC 0.607000 14 12 0 0 1 0 0 TMC1 117531 broad.mit.edu 37 9 75369767 75369767 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:75369767G>A ENST00000297784.5 + 12 1248 c.708G>A c.(706-708)tcG>tcA p.S236S TMC1_ENST00000340019.3_Silent_p.S236S|TMC1_ENST00000396237.3_Silent_p.S236S NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 236 sensory perception of sound integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 AAGAGGCATCGGCAGCAAACT 0.413000 13 15 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31323747 31323747 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr18:31323747C>T ENST00000269197.5 + 12 3935 c.3935C>T c.(3934-3936)tCc>tTc p.S1312F NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1312 Ser-rich. 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 ACAGAGGGCTCCAGCATATCA 0.443000 48 81 0 0 1 0 0 BAIAP3 8938 broad.mit.edu 37 16 1392220 1392220 + Missense_Mutation SNP G G A rs151024049 byFrequency TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:1392220G>A ENST00000324385.5 + 11 1156 c.998G>A c.(997-999)gGg>gAg p.G333E BAIAP3_ENST00000568887.1_Missense_Mutation_p.G270E|BAIAP3_ENST00000562208.1_Missense_Mutation_p.G275E|BAIAP3_ENST00000426824.3_Missense_Mutation_p.G298E|BAIAP3_ENST00000421665.2_Missense_Mutation_p.G298E|BAIAP3_ENST00000397488.2_Missense_Mutation_p.G315E|BAIAP3_ENST00000397489.1_Missense_Mutation_p.G315E NM_003933.4 NP_003924.2 O94812 BAIP3_HUMAN BAI1-associated protein 3 333 G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Hepatocellular(780;0.0893) CGCGCAAACGGGACAGCAGGA 0.632000 21 41 0 0 1 0 0 SAMD7 344658 broad.mit.edu 37 3 169656266 169656266 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:169656266G>A ENST00000428432.2 + 9 1702 c.1313G>A c.(1312-1314)gGa>gAa p.G438E SAMD7_ENST00000335556.3_Missense_Mutation_p.G438E NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 438 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) ATTCCTAAAGGAATTGAGCGA 0.408000 7 4 0 0 1 0 0 GJA10 84694 broad.mit.edu 37 6 90604719 90604719 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:90604719C>T ENST00000369352.1 + 1 532 c.532C>T c.(532-534)Ctc>Ttc p.L178F NM_032602.1 NP_115991.1 Q969M2 CXA10_HUMAN gap junction protein, alpha 10, 62kDa 178 synaptic transmission connexon complex|integral to membrane gap junction channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1) 37 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) CCAATATATTCTCTATGGGTT 0.448000 46 41 0 0 1 0 0 IGHM 3507 broad.mit.edu 37 14 106321027 106321027 + RNA SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:106321027G>A ENST00000390559.2 - 0 961 CCTACCCTTGGGCCGGGAGAT 0.642000 8 26 0 0 1 0 0 TTLL8 164714 broad.mit.edu 37 22 50483775 50483775 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:50483775C>T ENST00000266182.6 - 6 551 c.552G>A c.(550-552)gtG>gtA p.V184V TTLL8_ENST00000440475.1_Silent_p.V184V tubulin tyrosine ligase-like family, member 8 NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4) 12 all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162) READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226) GGTGGCTGACCACCCACTTGA 0.642000 6 32 0 0 1 0 0 OR2L8 391190 broad.mit.edu 37 1 248112288 248112288 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:248112288C>T ENST00000357191.3 + 1 129 c.129C>T c.(127-129)tcC>tcT p.S43S OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) GAAACCTGTCCATGATTCTTC 0.408000 52 322 0 0 1 0 0 RB1 5925 broad.mit.edu 37 13 48953743 48953743 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr13:48953743G>A ENST00000267163.4 + 14 1484 c.1346G>A c.(1345-1347)gGa>gAa p.G449E NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 449 Domain A.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(8)|p.G449fs*8(1) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TACAAACTTGGAGTTCGCTTG 0.343000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 7 14 0 0 1 0 0 ZNF382 84911 broad.mit.edu 37 19 37118320 37118320 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:37118320C>T ENST00000435416.1 + 3 3013 c.1518C>T c.(1516-1518)ctC>ctT p.L506L ZNF382_ENST00000439428.1_Silent_p.L506L|ZNF382_ENST00000423582.1_Silent_p.L458L|ZNF382_ENST00000292928.2_Silent_p.L507L Q96SR6 ZN382_HUMAN zinc finger protein 382 507 Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 34 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) AATCAAACCTCATTCGCCATC 0.428000 8 33 0 0 1 0 0 ARHGEF18 23370 broad.mit.edu 37 19 7506650 7506650 + Splice_Site SNP A A G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:7506650A>G ENST00000359920.6 + 2 907 c.655_splice c.e2+1 p.E218_splice ARHGEF18_ENST00000319670.9_Splice_Site_p.E60_splice|CTD-2207O23.3_ENST00000593531.1_Splice_Site_p.K176_splice NM_001130955.1 NP_001124427.1 Q6ZSZ5 ARHGI_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 18 218 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 23 Renal(5;0.0902) TTTTTGTAGAAGGTATGGTCA 0.512000 25 87 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1481118 1481118 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:1481118C>T ENST00000345913.4 + 8 1171 c.1080C>T c.(1078-1080)ggC>ggT p.G360G TPO_ENST00000382198.1_Intron|TPO_ENST00000349624.3_Intron|TPO_ENST00000329066.4_Silent_p.G360G|TPO_ENST00000337415.3_Silent_p.G360G|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Silent_p.G360G|TPO_ENST00000382201.3_Silent_p.G360G NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 360 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GGGACTCCGGCCGCGCCTACC 0.756000 4 4 0 0 1 0 0 TEX35 84066 broad.mit.edu 37 1 178490396 178490396 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:178490396C>T ENST00000319416.2 + 8 695 c.583C>T c.(583-585)Cgg>Tgg p.R195W TEX35_ENST00000258298.2_Missense_Mutation_p.R119W|TEX35_ENST00000367642.3_3'UTR|TEX35_ENST00000367639.1_Missense_Mutation_p.R203W|TEX35_ENST00000367641.3_3'UTR|TEX35_ENST00000367643.3_Missense_Mutation_p.R195W NM_032126.4 NP_115502.2 testis expressed 35 p.R195W(1) CAACTACAATCGGGGTAGGTA 0.498000 29 184 0 0 1 0 0 COBL 23242 broad.mit.edu 37 7 51092902 51092902 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:51092902G>A ENST00000395542.2 - 14 4102 c.3918C>T c.(3916-3918)tcC>tcT p.S1306S COBL_ENST00000265136.7_Silent_p.S1224S O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 1224 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) TGCTGAACCTGGAGGCCGTCC 0.627000 26 28 0 0 1 0 0 TMEM178A 130733 broad.mit.edu 37 2 39944345 39944345 + Missense_Mutation SNP G G A rs146286536 TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:39944345G>A ENST00000281961.2 + 4 904 c.848G>A c.(847-849)cGg>cAg p.R283Q TMEM178A_ENST00000482239.1_3'UTR NM_152390.2 NP_689603.2 transmembrane protein 178A p.R283Q(1) TTTATTAGCCGGACCAAGATT 0.547000 57 31 0 0 1 0 0 RPL9 6133 broad.mit.edu 37 4 39458102 39458102 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:39458102G>A ENST00000449470.2 - 4 763 c.315C>T c.(313-315)atC>atT p.I105I RPL9_ENST00000295955.9_Silent_p.I105I NM_001024921.2 NP_001020092.1 P32969 RL9_HUMAN ribosomal protein L9 105 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|nucleolus|ribosome rRNA binding|structural constituent of ribosome haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1) 8 CATTCTCCTGGATAACAACGT 0.423000 17 11 0 0 1 0 0 GATA2 2624 broad.mit.edu 37 3 128200015 128200015 + Silent SNP T T G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:128200015T>G ENST00000341105.2 - 6 1621 c.1290A>C c.(1288-1290)gcA>gcC p.A430A GATA2_ENST00000430265.2_Silent_p.A416A|GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Silent_p.A430A NM_032638.4 NP_116027.2 P23769 GATA2_HUMAN GATA binding protein 2 430 blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter nucleoplasm C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1) 79 GBM - Glioblastoma multiforme(114;0.173) CCAGGGCAGCTGCACTGAAGG 0.612000 Mis AML(CML blast transformation) 27 20 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33653534 33653534 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:33653534C>T ENST00000374316.5 + 42 6657 c.5597C>T c.(5596-5598)tCc>tTc p.S1866F ITPR3_ENST00000605930.1_Missense_Mutation_p.S1866F Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 1866 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 ATGGGCACATCCGTGCTCATC 0.637000 19 58 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152276059 152276059 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:152276059C>T ENST00000368799.1 - 3 11338 c.11303G>A c.(11302-11304)gGa>gAa p.G3768E FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3768 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCCTGTCTTCCTCCTCTCCT 0.602000 Ichthyosis 109 596 0 0 1 0 0 TBC1D9 23158 broad.mit.edu 37 4 141592000 141592000 + Missense_Mutation SNP G G C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:141592000G>C ENST00000442267.2 - 7 1214 c.1140C>G c.(1138-1140)ttC>ttG p.F380L NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 380 intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) TGGCAAATAGGAAGGTCATCC 0.448000 18 64 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11039421 11039421 + RNA SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr21:11039421C>T ENST00000470054.1 - 0 782 B melanoma antigen family, member 2 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) TTTTCCAATTCGGTATTCACT 0.279000 14 106 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42045469 42045469 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:42045469G>A ENST00000372584.1 - 3 6014 c.5000C>T c.(4999-5001)gCt>gTt p.A1667V HIVEP3_ENST00000372583.1_Missense_Mutation_p.A1667V|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.A1667V|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A1667V NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1667 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) AGGATGCGGAGCTGTGGCCAT 0.527000 63 28 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3235774 3235774 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:3235774G>A ENST00000217939.6 - 6 6102 c.5948C>T c.(5947-5949)tCc>tTc p.S1983F NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1983 Ig-like C2-type 4. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GAAGATCCAGGAAATTTGGGG 0.592000 28 2 0 0 1 0 0 KIAA0195 9772 broad.mit.edu 37 17 73493244 73493244 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:73493244C>T ENST00000314256.7 + 26 3766 c.3372C>T c.(3370-3372)atC>atT p.I1124I KIAA0195_ENST00000579208.1_Silent_p.I775I|KIAA0195_ENST00000375248.5_Silent_p.I1134I NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 1124 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CCACCGACATCCTGTGGCTGT 0.532000 18 66 0 0 1 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21457496 21457496 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:21457496C>T ENST00000307378.6 - 7 1174 c.454G>A c.(454-456)Gaa>Aaa p.E152K SLCO1A2_ENST00000390670.3_Missense_Mutation_p.E150K|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.E152K|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.E20K|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.E20K NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 152 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity p.E152Q(1)|p.E152K(1) breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 GATTTAACTTCCTTTGTACAC 0.358000 25 23 0 0 1 0 0 MROH8 140699 broad.mit.edu 37 20 35776282 35776282 + Silent SNP G G A rs6073495 TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:35776282G>A ENST00000400441.3 - 10 1104 c.1105C>T c.(1105-1107)Cta>Tta p.L369L MROH8_ENST00000441008.2_Silent_p.L355L|MROH8_ENST00000217333.8_Silent_p.L249L maestro heat-like repeat family member 8 AGAGCCACTAGGTGTCCAAGT 0.493000 19 9 0 0 1 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42107506 42107506 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr15:42107506C>T ENST00000457542.2 + 11 1506 c.1220C>T c.(1219-1221)tCc>tTc p.S407F MAPKBP1_ENST00000456763.2_Missense_Mutation_p.S413F|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.S407F|MAPKBP1_ENST00000260357.7_Intron|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.S290F NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 413 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) CCCCCCAGTTCCTTTATTACC 0.582000 37 7 0 0 1 0 0 STARD4 134429 broad.mit.edu 37 5 110842044 110842044 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:110842044C>T ENST00000296632.3 - 3 273 c.139G>A c.(139-141)Gaa>Aaa p.E47K STARD4_ENST00000512160.1_Missense_Mutation_p.E47K|STARD4_ENST00000509887.1_Missense_Mutation_p.E47K|STARD4_ENST00000511569.1_5'UTR|STARD4_ENST00000502322.1_Missense_Mutation_p.E47K NM_139164.1 NP_631903.1 Q96DR4 STAR4_HUMAN StAR-related lipid transfer (START) domain containing 4 47 START. lipid transport lipid binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1) 12 all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248) OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138) CCATTAAATTCTTCTGAGGGT 0.299000 11 4 0 0 1 0 0 HSPA2 3306 broad.mit.edu 37 14 65008503 65008503 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:65008503C>T ENST00000247207.6 + 1 1318 c.936C>T c.(934-936)ctC>ctT p.L312L HSPA2_ENST00000394709.1_Silent_p.L312L NM_021979.3 NP_068814.2 P54652 HSP72_HUMAN heat shock 70kDa protein 2 312 response to unfolded protein|spermatid development cell surface ATP binding|unfolded protein binding breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045) ATGCCGACCTCTTTCGCGGGA 0.652000 13 46 0 0 1 0 0 GLYAT 10249 broad.mit.edu 37 11 58480301 58480301 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:58480301G>A ENST00000344743.3 - 4 389 c.248C>T c.(247-249)cCc>cTc p.P83L GLYAT_ENST00000278400.3_Missense_Mutation_p.P83L|GLYAT_ENST00000529732.1_Missense_Mutation_p.P83L NM_201648.2 NP_964011.2 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase 83 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) ACAGTTTTGGGGATCTTTGGA 0.373000 29 30 0 0 1 0 0 CAPN12 147968 broad.mit.edu 37 19 39232454 39232454 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:39232454C>T ENST00000328867.4 - 4 831 c.523G>A c.(523-525)Gag>Aag p.E175K CAPN12_ENST00000601953.1_Missense_Mutation_p.E26K NM_144691.3 NP_653292.2 Q6ZSI9 CAN12_HUMAN calpain 12 175 Calpain catalytic. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(60;2.87e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) GCCCAGAACTCATTCCGCTGT 0.627000 7 17 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7584638 7584638 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:7584638G>A ENST00000379802.3 + 24 7484 c.7143G>A c.(7141-7143)aaG>aaA p.K2381K DSP_ENST00000418664.2_Silent_p.K1782K NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2381 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TTGACCCAAAGGAGAGCCATC 0.448000 44 15 0 0 1 0 0 MCF2L2 23101 broad.mit.edu 37 3 183017897 183017897 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:183017897G>A ENST00000328913.3 - 11 1498 c.1201C>T c.(1201-1203)Cgg>Tgg p.R401W MCF2L2_ENST00000447025.2_Missense_Mutation_p.R401W|MCF2L2_ENST00000414362.2_Missense_Mutation_p.R401W|MCF2L2_ENST00000473233.1_Missense_Mutation_p.R401W NM_015078.2 NP_055893.2 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 401 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TCCACACACCGGGGCCTGATG 0.512000 14 35 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 31227665 31227665 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:31227665G>A ENST00000357033.4 - 65 9719 c.9513C>T c.(9511-9513)gtC>gtT p.V3171V DMD_ENST00000361471.4_Silent_p.V103V|DMD_ENST00000474231.1_Silent_p.V711V|DMD_ENST00000343523.2_Silent_p.V711V|DMD_ENST00000541735.1_Silent_p.V711V|DMD_ENST00000378707.3_Silent_p.V711V|DMD_ENST00000378677.2_Silent_p.V3167V|DMD_ENST00000359836.1_Silent_p.V711V|DMD_ENST00000378702.4_Silent_p.V103V|DMD_ENST00000378723.3_Silent_p.V103V|DMD_ENST00000378680.2_Silent_p.V103V NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 3171 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CGCAGAGAGGGACGTTGACCA 0.453000 36 7 0 0 1 0 0 RGPD4 285190 broad.mit.edu 37 2 108479241 108479241 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:108479241G>A ENST00000408999.3 + 16 2386 c.2309G>A c.(2308-2310)cGa>cAa p.R770Q RGPD4_ENST00000354986.4_Missense_Mutation_p.R770Q NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 770 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 GGTTCTTTGCGAAATGCGGAT 0.383000 23 18 0 0 1 0 0 ZNF554 115196 broad.mit.edu 37 19 2834330 2834330 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:2834330C>T ENST00000317243.5 + 5 1295 c.1097C>T c.(1096-1098)aCc>aTc p.T366I NM_001102651.1 NP_001096121.1 Q86TJ5 ZN554_HUMAN zinc finger protein 554 366 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 23 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) CACAGCTCCACCCTCACGCGC 0.552000 11 39 0 0 1 0 0 SNORD113-5 767565 broad.mit.edu 37 14 101404556 101404556 + RNA SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:101404556G>A ENST00000607261.1 + 0 33 NR_003233.1 GGAGGTGTCTGAATCAACACT 0.378000 28 74 0 0 1 0 0 ZBTB37 84614 broad.mit.edu 37 1 173842613 173842613 + Missense_Mutation SNP C C T rs143889150 TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:173842613C>T ENST00000427304.1 + 4 1208 c.932C>T c.(931-933)cCc>cTc p.P311L ZBTB37_ENST00000367704.1_Intron|ZBTB37_ENST00000367702.1_Missense_Mutation_p.P311L|ZBTB37_ENST00000432989.1_Missense_Mutation_p.P311L|ZBTB37_ENST00000367701.4_Missense_Mutation_p.P311L NM_001122770.1 NP_001116242.1 Q5TC79 ZBT37_HUMAN zinc finger and BTB domain containing 37 311 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4) 13 AGATTTAGCCCCTCCGGCAGT 0.488000 4 59 0 0 1 0 0 CPA3 1359 broad.mit.edu 37 3 148597581 148597581 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:148597581G>A ENST00000296046.3 + 6 533 c.481G>A c.(481-483)Gaa>Aaa p.E161K RP11-680B3.2_ENST00000488190.1_RNA NM_001870.2 NP_001861.2 P15088 CBPA3_HUMAN carboxypeptidase A3 (mast cell) 161 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) ATAGATTGGGGAAAAGAATGA 0.373000 6 38 0 0 1 0 0 DEFB110 245913 broad.mit.edu 37 6 49976967 49976967 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:49976967G>A ENST00000393660.2 - 2 72 c.73C>T c.(73-75)Cca>Tca p.P25S NM_001037728.2 NP_001032817.1 Q30KQ9 DB110_HUMAN defensin, beta 110 locus 24 defense response to bacterium extracellular region endometrium(1)|lung(1)|ovary(1) 3 Lung NSC(77;0.042) CTATACTTTGGTTCAAAATTG 0.313000 35 16 0 0 1 0 0 DUSP11 8446 broad.mit.edu 37 2 74002123 74002123 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:74002123G>A ENST00000443070.1 - 3 372 c.367C>T c.(367-369)Ctt>Ttt p.L123F DUSP11_ENST00000272444.3_Missense_Mutation_p.L123F|DUSP11_ENST00000480948.1_5'UTR|DUSP11_ENST00000377706.4_Missense_Mutation_p.L76F O75319 DUS11_HUMAN dual specificity phosphatase 11 (RNA/RNP complex 1-interacting) 76 RNA processing nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1) 12 TTGTTAAAAAGATCCAAAGGG 0.343000 9 35 0 0 1 0 0 HCFC1 3054 broad.mit.edu 37 X 153216280 153216280 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:153216280G>A ENST00000310441.7 - 23 6653 c.5687C>T c.(5686-5688)gCc>gTc p.A1896V HCFC1_ENST00000354233.3_Missense_Mutation_p.A1827V|HCFC1_ENST00000369984.4_Missense_Mutation_p.A1941V NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 1896 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GATTTTAATGGCACAAGGGGC 0.592000 97 11 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38783895 38783895 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:38783895G>A ENST00000449082.2 - 13 1992 c.1993C>T c.(1993-1995)Ccc>Tcc p.P665S NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 665 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TCTGCAAAGGGATCCGTCACA 0.537000 13 23 0 0 1 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45555832 45555832 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr18:45555832C>T ENST00000588982.1 - 4 2160 c.1659G>A c.(1657-1659)gaG>gaA p.E553E ZBTB7C_ENST00000590800.1_Silent_p.E553E|ZBTB7C_ENST00000535628.2_Silent_p.E553E|ZBTB7C_ENST00000586438.1_Silent_p.E553E|ZBTB7C_ENST00000332053.2_Silent_p.E553E A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 553 intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 TCATCTGTGTCTCCTCGAACT 0.726000 15 6 0 0 1 0 0 KCNQ4 9132 broad.mit.edu 37 1 41285929 41285929 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:41285929C>T ENST00000347132.5 + 7 1120 c.1038C>T c.(1036-1038)atC>atT p.I346I KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Silent_p.I346I NM_004700.3|NM_172163.2 NP_004691.2|NP_751895.1 P56696 KCNQ4_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 4 346 sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1) 26 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) CCAACCTCATCCAGGTACAAG 0.622000 16 2 0 0 1 0 0 ANO2 57101 broad.mit.edu 37 12 5848555 5848555 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:5848555G>A ENST00000546188.1 - 13 1424 c.1353C>T c.(1351-1353)ttC>ttT p.F451F ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000356134.5_Silent_p.F451F|ANO2_ENST00000327087.8_Silent_p.F450F Q9NQ90 ANO2_HUMAN anoctamin 2 455 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 AGTTTTCCAGGAACATGGTAG 0.438000 4 8 0 0 1 0 0 C7orf57 136288 broad.mit.edu 37 7 48092411 48092411 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:48092411G>A ENST00000348904.3 + 7 932 c.720G>A c.(718-720)aaG>aaA p.K240K C7orf57_ENST00000420324.1_Silent_p.K269K|C7orf57_ENST00000435376.1_Silent_p.K102K|C7orf57_ENST00000430738.1_Silent_p.K285K|C7orf57_ENST00000539619.1_Silent_p.K240K NM_001100159.2 NP_001093629.1 Q8NEG2 CG057_HUMAN chromosome 7 open reading frame 57 240 breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 9 GGACCCCGAAGACCTCCAGGG 0.537000 16 25 0 0 1 0 0 FAM71E1 112703 broad.mit.edu 37 19 50979171 50979171 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:50979171G>A ENST00000600100.1 - 2 643 c.279C>T c.(277-279)ccC>ccT p.P93P FAM71E1_ENST00000595790.1_Silent_p.P93P Q6IPT2 F71E1_HUMAN family with sequence similarity 71, member E1 93 breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026) GGAGCCGTCTGGGACGGCCCG 0.612000 10 11 0 0 1 0 0 RASGRP1 10125 broad.mit.edu 37 15 38786918 38786918 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr15:38786918C>T ENST00000310803.5 - 16 2101 c.1924G>A c.(1924-1926)Ggt>Agt p.G642S RASGRP1_ENST00000539159.1_Missense_Mutation_p.G594S|RASGRP1_ENST00000561180.1_Missense_Mutation_p.G693S|RASGRP1_ENST00000450598.2_Missense_Mutation_p.G607S|RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000559830.1_Intron NM_001128602.1|NM_005739.3 NP_001122074.1|NP_005730.2 O95267 GRP1_HUMAN RAS guanyl releasing protein 1 (calcium and DAG-regulated) 642 cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) CTCTCCTCACCATGTTCCACA 0.517000 12 2 0 0 1 0 0 VPS33A 65082 broad.mit.edu 37 12 122716889 122716889 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:122716889G>A ENST00000267199.4 - 13 1807 c.1695C>T c.(1693-1695)tcC>tcT p.S565S RP11-512M8.5_ENST00000535844.1_Silent_p.S526S NM_022916.4 NP_075067.2 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33 homolog A (S. cerevisiae) 565 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 28 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) CTTCCAACTGGGAGAGAAATC 0.438000 32 74 0 0 1 0 0 EIF2S3 1968 broad.mit.edu 37 X 24089794 24089794 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:24089794C>T ENST00000253039.4 + 10 1385 c.1132C>T c.(1132-1134)Ctt>Ttt p.L378F NM_001415.3 NP_001406.1 P41091 IF2G_HUMAN eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa 378 cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1) 12 CTATTTCCTGCTTAGACGGCT 0.438000 42 8 0 0 1 0 0 TNNI3K 51086 broad.mit.edu 37 1 75005965 75005965 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:75005965G>A ENST00000370891.2 + 26 2718 c.2702G>A c.(2701-2703)aGa>aAa p.R901K FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.R901K|TNNI3K_ENST00000326637.3_Missense_Mutation_p.R800K|TNNI3K_ENST00000465473.1_3'UTR NM_001112808.2 NP_001106279.1 TNNI3 interacting kinase cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 76 GAGATGAAAAGAAGTCTTCAA 0.358000 38 13 0 0 1 0 0 TANC1 85461 broad.mit.edu 37 2 160007008 160007008 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:160007008C>T ENST00000263635.6 + 7 860 c.623C>T c.(622-624)cCc>cTc p.P208L TANC1_ENST00000454300.1_Intron NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 208 Ser-rich. cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 AACAAAAGTCCCTGTGAGACC 0.512000 5 42 0 0 1 0 0 POU6F1 5463 broad.mit.edu 37 12 51589802 51589802 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:51589802G>A ENST00000389243.4 - 8 1139 c.200C>T c.(199-201)cCt>cTt p.P67L POU6F1_ENST00000333640.10_Missense_Mutation_p.P67L|POU6F1_ENST00000550824.1_Missense_Mutation_p.P67L Q14863 PO6F1_HUMAN POU class 6 homeobox 1 67 Gln/Pro-rich. brain development|heart development|muscle organ development nucleus sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 11 GACAGCCACAGGTGGAGGCAG 0.672000 7 8 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159682250 159682250 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:159682250C>T ENST00000297267.9 + 19 5403 c.5203C>T c.(5203-5205)Cct>Tct p.P1735S FNDC1_ENST00000340366.6_Missense_Mutation_p.P1672S NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1735 Fibronectin type-III 5. extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) AGCACAAAATCCTCATGGCTA 0.358000 10 23 0 0 1 0 0 OR2B6 26212 broad.mit.edu 37 6 27925809 27925809 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:27925809C>T ENST00000244623.1 + 1 791 c.791C>T c.(790-792)tCg>tTg p.S264L NM_012367.1 NP_036499.1 P58173 OR2B6_HUMAN olfactory receptor, family 2, subfamily B, member 6 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CAACCACCTTCGCCCAGCTCC 0.453000 17 123 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123846349 123846349 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:123846349C>T ENST00000369005.1 + 4 4674 c.4334C>T c.(4333-4335)cCa>cTa p.P1445L TACC2_ENST00000515273.1_Missense_Mutation_p.P1445L|TACC2_ENST00000453444.2_Missense_Mutation_p.P1445L|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.P1445L|TACC2_ENST00000334433.3_Missense_Mutation_p.P1445L NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 1445 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CTCACCAGGCCATTGGGCCCA 0.587000 10 6 0 0 1 0 0 RFX3 5991 broad.mit.edu 37 9 3330272 3330272 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:3330272G>A ENST00000382004.3 - 5 772 c.461C>T c.(460-462)gCc>gTc p.A154V RFX3_ENST00000302303.1_Missense_Mutation_p.A154V|RFX3_ENST00000358730.2_Missense_Mutation_p.A154V NM_134428.1 NP_602304.1 P48380 RFX3_HUMAN regulatory factor X, 3 (influences HLA class II expression) 154 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) CGCTGGGGAGGCCCGAGTTGT 0.433000 10 24 0 0 1 0 0 GPAM 57678 broad.mit.edu 37 10 113919767 113919767 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:113919767G>A ENST00000348367.4 - 17 2001 c.1804C>T c.(1804-1806)Ccc>Tcc p.P602S GPAM_ENST00000369425.1_Missense_Mutation_p.P602S|GPAM_ENST00000423155.1_Missense_Mutation_p.P602S Q9HCL2 GPAT1_HUMAN glycerol-3-phosphate acyltransferase, mitochondrial 602 phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(162;0.0306)|all cancers(201;0.123) GTGCTAGTGGGACCCCCCAGT 0.522000 33 13 0 0 1 0 0 ERVW-1 30816 broad.mit.edu 37 7 92098627 92098627 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:92098627C>T ENST00000493463.2 - 1 1992 c.1069G>A c.(1069-1071)Gac>Aac p.D357N AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000604270.1_Intron|ERVW-1_ENST00000603053.1_Missense_Mutation_p.D357N NM_014590.3 NP_055405.3 Q9UQF0 ENW1_HUMAN 357 syncytium formation integral to membrane|plasma membrane|virion endometrium(1)|large_intestine(1)|lung(15) 17 cgttccatgtccccatttagt 0.473000 22 63 0 0 1 0 0 DEPDC4 120863 broad.mit.edu 37 12 100660801 100660801 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:100660801C>T ENST00000416321.1 - 1 56 c.54G>A c.(52-54)ccG>ccA p.P18P NM_152317.2 NP_689530.1 Q8N2C3 DEPD4_HUMAN DEP domain containing 4 18 intracellular signal transduction NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1) 15 TACGGAACCTCGGAGTCAAAA 0.627000 30 39 0 0 1 0 0 NUP62 23636 broad.mit.edu 37 19 50412606 50412606 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:50412606G>A ENST00000596217.1 - 2 2346 c.459C>T c.(457-459)acC>acT p.T153T NUP62_ENST00000352066.3_Silent_p.T153T|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000422090.2_Silent_p.T153T|NUP62_ENST00000597029.1_Silent_p.T153T|NUP62_ENST00000413454.1_Silent_p.T153T|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000597723.1_Silent_p.T153T P37198 NUP62_HUMAN nucleoporin 62kDa 153 15 X 9 AA approximate repeats.|Thr-rich. carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2) 19 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) CTCCAGATGTGGTAGCTGGAG 0.602000 15 37 0 0 1 0 0 CHD3 1107 broad.mit.edu 37 17 7802801 7802801 + Missense_Mutation SNP G G T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:7802801G>T ENST00000380358.4 + 15 2662 c.2661G>T c.(2659-2661)gaG>gaT p.E887D CHD3_ENST00000330494.7_Missense_Mutation_p.E828D|CHD3_ENST00000358181.4_Missense_Mutation_p.E828D NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 828 Helicase ATP-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) TCATTCGTGAGAATGAATTCT 0.488000 118 26 6.59513e-52 6.73802e-52 1 1 0 AGRN 375790 broad.mit.edu 37 1 984698 984698 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:984698C>T ENST00000379370.2 + 25 4431 c.4381C>T c.(4381-4383)Cgg>Tgg p.R1461W NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 1461 Laminin G-like 1. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) GGAGCTGTCCCGGCACTGGCG 0.687000 10 30 0 0 1 0 0 CA14 23632 broad.mit.edu 37 1 150235700 150235700 + Silent SNP G G T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:150235700G>T ENST00000369111.4 + 8 1693 c.723G>T c.(721-723)ctG>ctT p.L241L NM_012113.1 NP_036245.1 Q9ULX7 CAH14_HUMAN carbonic anhydrase XIV 241 integral to membrane carbonate dehydratase activity|metal ion binding central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 18 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CTCCTCAGCTGGAAAAGCTTC 0.527000 13 106 3.27435e-08 3.30385e-08 1 1 0 PIP4K2A 5305 broad.mit.edu 37 10 22898640 22898640 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:22898640C>T ENST00000376573.4 - 2 379 c.151G>A c.(151-153)Gaa>Aaa p.E51K PIP4K2A_ENST00000422321.1_5'UTR|PIP4K2A_ENST00000545335.1_5'UTR NM_005028.4 NP_005019.2 P48426 PI42A_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, alpha 51 PIPK. 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 29 TGGCTCAGTTCATTGATCTGG 0.358000 27 14 0 0 1 0 0 CLU 1191 broad.mit.edu 37 8 27462705 27462705 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:27462705C>T ENST00000316403.10 - 5 970 c.565G>A c.(565-567)Gag>Aag p.E189K CLU_ENST00000560366.1_Missense_Mutation_p.E241K|CLU_ENST00000405140.3_Missense_Mutation_p.E189K|CLU_ENST00000546343.1_Missense_Mutation_p.E200K|CLU_ENST00000523500.1_Missense_Mutation_p.E189K P10909 CLUS_HUMAN clusterin 189 chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle misfolded protein binding|ubiquitin protein ligase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2) 21 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132) TGGAAGAGCTCGTCTATGATG 0.607000 23 25 0 0 1 0 0 KRBA1 84626 broad.mit.edu 37 7 149419622 149419622 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:149419622G>A ENST00000255992.10 + 6 975 c.576G>A c.(574-576)caG>caA p.Q192Q KRBA1_ENST00000485033.2_Silent_p.Q192Q|KRBA1_ENST00000319551.8_Silent_p.Q192Q|KRBA1_ENST00000479560.1_3'UTR NM_032534.2 NP_115923.2 A5PL33 KRBA1_HUMAN KRAB-A domain containing 1 192 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1) 27 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ACAGAGGACAGGAGAGAGGGA 0.632000 4 6 0 0 1 0 0 CHRM3 1131 broad.mit.edu 37 1 240071520 240071520 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:240071520G>A ENST00000255380.4 + 5 1548 c.769G>A c.(769-771)Gaa>Aaa p.E257K NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 257 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) GATCTATAAGGAAACTGAAAA 0.483000 60 23 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139164168 139164168 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:139164168C>T ENST00000395297.1 - 13 2720 c.2550G>A c.(2548-2550)ggG>ggA p.G850G NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 850 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GCTTCCCTTTCCCTTTGGGGA 0.488000 HNSCC(54;0.14) 29 43 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56495343 56495343 + Missense_Mutation SNP C C T rs67708249 TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:56495343C>T ENST00000267101.3 + 28 3973 c.3533C>T c.(3532-3534)tCt>tTt p.S1178F ERBB3_ENST00000415288.2_Missense_Mutation_p.S1119F|RP11-603J24.9_ENST00000548861.1_Intron|ERBB3_ENST00000549832.1_Missense_Mutation_p.S298F|ERBB3_ENST00000450146.2_Missense_Mutation_p.S535F|ERBB3_ENST00000553131.1_Missense_Mutation_p.S419F NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 1178 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) GGCACCCTTTCTTCAGTGGGT 0.488000 11 44 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28543494 28543494 + Silent SNP A A G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:28543494A>G ENST00000452236.2 - 3 1605 c.988T>C c.(988-990)Tta>Cta p.L330L NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 330 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 TTCGCTTGTAACTCTTTCTCC 0.373000 101 62 0 0 1 0 0 C20orf26 26074 broad.mit.edu 37 20 20257933 20257933 + Missense_Mutation SNP G G C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:20257933G>C ENST00000245957.5 + 22 2703 c.2627G>C c.(2626-2628)tGc>tCc p.C876S C20orf26_ENST00000377309.2_Missense_Mutation_p.C232S NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 876 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) ACCATCACCTGCATCAACAAC 0.627000 54 38 0 0 1 0 0 QSOX2 169714 broad.mit.edu 37 9 139118626 139118626 + Silent SNP G G T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:139118626G>T ENST00000358701.5 - 2 460 c.423C>A c.(421-423)acC>acA p.T141T NM_181701.3 NP_859052.3 Q6ZRP7 QSOX2_HUMAN quiescin Q6 sulfhydryl oxidase 2 141 Thioredoxin. cell redox homeostasis extracellular region|integral to membrane|nuclear membrane|plasma membrane thiol oxidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1) 22 Myeloproliferative disorder(178;0.0511) Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07) TCACCCGGAAGGTGGGGTAGA 0.562000 OREG0019616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 79 6.02846e-25 6.14155e-25 1 1 0 PADI2 11240 broad.mit.edu 37 1 17397977 17397977 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:17397977C>T ENST00000375486.4 - 14 1622 c.1559G>A c.(1558-1560)gGg>gAg p.G520E PADI2_ENST00000444885.2_Missense_Mutation_p.G404E|PADI2_ENST00000466151.1_5'UTR NM_007365.2 NP_031391.2 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 520 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) GCTGCTCATCCCACCCAAGCC 0.562000 47 14 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92615919 92615919 + Silent SNP C C A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:92615919C>A ENST00000298047.6 + 23 12314 c.12297C>A c.(12295-12297)atC>atA p.I4099I FAT3_ENST00000533797.1_Silent_p.I434I|FAT3_ENST00000409404.2_Silent_p.I4099I|FAT3_ENST00000525166.1_Silent_p.I3949I Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4099 EGF-like 4; calcium-binding (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGGAGGACATCAATGAGTGCG 0.587000 TCGA Ovarian(4;0.039) 5 11 0.217242 0.217364 1 1 0 IRGC 56269 broad.mit.edu 37 19 44223753 44223753 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:44223753C>T ENST00000244314.5 + 2 1242 c.1043C>T c.(1042-1044)tCc>tTc p.S348F NM_019612.3 NP_062558.1 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 348 membrane GTP binding|hydrolase activity, acting on acid anhydrides central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2) 25 Prostate(69;0.0435) CGGCTCTATTCCCAGTCGTCC 0.672000 22 27 0 0 1 0 0 PLBD1 79887 broad.mit.edu 37 12 14656776 14656776 + Missense_Mutation SNP T T G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:14656776T>G ENST00000240617.5 - 11 2244 c.1592A>C c.(1591-1593)cAg>cCg p.Q531P NM_024829.5 NP_079105.4 Q6P4A8 PLBL1_HUMAN phospholipase B domain containing 1 531 lipid catabolic process extracellular region hydrolase activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 16 TGGCATGCCCTGATGTAGAGT 0.428000 16 55 0 0 1 0 0 KCNA5 3741 broad.mit.edu 37 12 5154927 5154927 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:5154927G>A ENST00000252321.3 + 1 1843 c.1614G>A c.(1612-1614)gaG>gaA p.E538E NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 538 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 TTAAGGAAGAGCAGGGCACTC 0.627000 12 23 0 0 1 0 0 SCML2 10389 broad.mit.edu 37 X 18265917 18265917 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:18265917G>A ENST00000251900.4 - 12 1701 c.1542C>T c.(1540-1542)ctC>ctT p.L514L SCML2_ENST00000398048.3_Silent_p.L250L NM_006089.2 NP_006080.1 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 (Drosophila) 514 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 36 Hepatocellular(33;0.183) TTGTTTTGGGGAGCTTAGGAG 0.423000 18 8 0 0 1 0 0 LIMCH1 22998 broad.mit.edu 37 4 41646618 41646618 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:41646618G>A ENST00000313860.7 + 10 1127 c.1073G>A c.(1072-1074)aGg>aAg p.R358K LIMCH1_ENST00000381753.4_Missense_Mutation_p.R192K|LIMCH1_ENST00000508501.1_Missense_Mutation_p.R358K|LIMCH1_ENST00000396595.3_Missense_Mutation_p.R204K|LIMCH1_ENST00000513024.1_Missense_Mutation_p.R187K|LIMCH1_ENST00000509277.1_Missense_Mutation_p.R192K|LIMCH1_ENST00000511496.1_Missense_Mutation_p.R199K|LIMCH1_ENST00000514096.1_Missense_Mutation_p.R199K|LIMCH1_ENST00000512946.1_Missense_Mutation_p.R358K|LIMCH1_ENST00000503057.1_Missense_Mutation_p.R743K|LIMCH1_ENST00000512632.1_Missense_Mutation_p.R358K|LIMCH1_ENST00000512820.1_Missense_Mutation_p.R346K NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 358 actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 AACCAGCTGAGGGAAGAGGAC 0.622000 OREG0016169 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 9 0 0 1 0 0 XPNPEP2 7512 broad.mit.edu 37 X 128877993 128877993 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:128877993G>A ENST00000371106.3 + 3 372 c.180G>A c.(178-180)caG>caA p.Q60Q XPNPEP2_ENST00000371105.3_Silent_p.Q60Q NM_003399.5 NP_003390.4 O43895 XPP2_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound 60 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 37 TCCGCCAGCAGATGCAGACCC 0.507000 69 15 0 0 1 0 0 SON 6651 broad.mit.edu 37 21 34924275 34924275 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr21:34924275C>T ENST00000356577.4 + 3 3213 c.2738C>T c.(2737-2739)cCc>cTc p.P913L SON_ENST00000290239.6_Missense_Mutation_p.P913L|SON_ENST00000381679.4_Missense_Mutation_p.P913L|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.P913L NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 913 11 X 7 AA tandem repeats of [DR]-P-Y-R- [LI][AG][QHP]. anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding p.P913L(1) breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 TCTCCTGATCCCTATAGGTTA 0.468000 8 12 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179612348 179612348 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:179612348C>T ENST00000360870.5 - 46 15001 c.14779G>A c.(14779-14781)Gca>Aca p.A4927T TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 1054 Ig-like 29. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACAAGCTTTGCCTGGTCTCTG 0.438000 52 34 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41446972 41446972 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr21:41446972C>T ENST00000400454.1 - 27 5357 c.4880G>A c.(4879-4881)aGg>aAg p.R1627K NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1627 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) ACCTCGCAGCCTCTTTAGCCT 0.602000 4 15 0 0 1 0 0 ACOX2 8309 broad.mit.edu 37 3 58519227 58519227 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:58519227C>T ENST00000302819.5 - 5 819 c.528G>A c.(526-528)caG>caA p.Q176Q ACOX2_ENST00000459701.2_Silent_p.Q176Q NM_003500.3 NP_003491.1 Q99424 ACOX2_HUMAN acyl-CoA oxidase 2, branched chain 176 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156) TCACAAACTCCTGGGTGGCTG 0.537000 OREG0015638 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 37 0 0 1 0 0 TCERG1 10915 broad.mit.edu 37 5 145834772 145834772 + Silent SNP T T A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:145834772T>A ENST00000296702.5 + 2 251 c.213T>A c.(211-213)ccT>ccA p.P71P TCERG1_ENST00000394421.2_Silent_p.P71P NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 71 Pro-rich. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GACGTCCTCCTTTTGATCCTA 0.572000 63 31 0 0 1 0 0 SLC6A6 6533 broad.mit.edu 37 3 14513751 14513751 + Missense_Mutation SNP A A T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:14513751A>T ENST00000454876.2 + 10 1464 c.1135A>T c.(1135-1137)Aca>Tca p.T379S SLC6A6_ENST00000360861.3_Missense_Mutation_p.T379S P31641 SC6A6_HUMAN solute carrier family 6 (neurotransmitter transporter), member 6 379 cellular amino acid metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2) 28 AAAAGCTGTGACAATGATGCC 0.532000 12 32 0 0 1 0 0 EPB41L1 2036 broad.mit.edu 37 20 34763556 34763556 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:34763556C>T ENST00000338074.2 + 3 422 c.261C>T c.(259-261)ccC>ccT p.P87P EPB41L1_ENST00000441639.1_Silent_p.P25P|EPB41L1_ENST00000373941.1_Silent_p.P87P|EPB41L1_ENST00000202028.5_Silent_p.P25P|EPB41L1_ENST00000373950.2_Silent_p.P25P|EPB41L1_ENST00000373946.3_Silent_p.P56P NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 87 cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) AGAAATCGCCCCAGAAGATTG 0.572000 8 68 0 0 1 0 0 ZNF888 388559 broad.mit.edu 37 19 53421117 53421117 + RNA SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:53421117G>A ENST00000596623.1 - 0 235 zinc finger protein 888 CTCACCTGAGGAAGAGCCATC 0.438000 35 15 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63447818 63447818 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:63447818G>A ENST00000322893.7 - 6 982 c.714C>T c.(712-714)ttC>ttT p.F238F KCNH5_ENST00000420622.2_Silent_p.F238F|KCNH5_ENST00000394964.2_Silent_p.F180F|KCNH5_ENST00000394968.1_Silent_p.F180F NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 238 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) GCTTTGTTTTGAAGGAAACAT 0.363000 27 21 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152510568 152510568 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:152510568C>T ENST00000427231.2 - 52 7055 c.6853G>A c.(6853-6855)Gat>Aat p.D2285N NEB_ENST00000409198.1_Missense_Mutation_p.D2285N|NEB_ENST00000603639.1_Missense_Mutation_p.D2285N|NEB_ENST00000397345.3_Missense_Mutation_p.D2285N|NEB_ENST00000604864.1_Missense_Mutation_p.D2285N|NEB_ENST00000172853.10_Missense_Mutation_p.D2285N NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 2285 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) ACTGGGAGATCATAGCCTTTC 0.323000 6 31 0 0 1 0 0 IFNA4 3441 broad.mit.edu 37 9 21187354 21187354 + Silent SNP G G A rs147890478 TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:21187354G>A ENST00000421715.1 - 1 244 c.177C>T c.(175-177)ttC>ttT p.F59F NM_021068.2 NP_066546.1 P05014 IFNA4_HUMAN interferon, alpha 4 59 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding p.F59F(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CGGGGAATCCGAAATCATGTC 0.517000 31 85 0 0 1 0 0 FANCM 57697 broad.mit.edu 37 14 45665628 45665628 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:45665628G>A ENST00000267430.5 + 21 5679 c.5594G>A c.(5593-5595)aGg>aAg p.R1865K FANCM_ENST00000542564.2_Missense_Mutation_p.R1839K NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1865 Interaction with FAAP24 and EME1. DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding p.R1865M(1) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 GTGGTGGAAAGGAGGTCTCAA 0.398000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 54 37 0 0 1 0 0 WDR64 128025 broad.mit.edu 37 1 241904893 241904893 + Missense_Mutation SNP G G A rs150454119 TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:241904893G>A ENST00000366552.2 + 11 1574 c.1367G>A c.(1366-1368)cGa>cAa p.R456Q WDR64_ENST00000437684.2_Missense_Mutation_p.R456Q NM_144625.4 NP_653226.4 B1ANS9 WDR64_HUMAN WD repeat domain 64 456 breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) ACTCATGAACGAGAAATCAAT 0.358000 33 20 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34554618 34554618 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:34554618C>T ENST00000373381.4 - 2 540 c.364G>A c.(364-366)Gtg>Atg p.V122M NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 82 CUB 1. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CCATCAAACACCGACAGGACA 0.557000 27 18 0 0 1 0 0 ENPP6 133121 broad.mit.edu 37 4 185018424 185018424 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:185018424C>T ENST00000296741.2 - 7 1232 c.1091G>A c.(1090-1092)cGg>cAg p.R364Q NM_153343.3 NP_699174.1 Q6UWR7 ENPP6_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 6 364 lipid catabolic process extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 15 all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151) GAAGATGCCCCGCATGTCCAT 0.592000 41 30 0 0 1 0 0 TMEM175 84286 broad.mit.edu 37 4 941906 941906 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:941906C>T ENST00000264771.4 + 3 341 c.156C>T c.(154-156)atC>atT p.I52I TMEM175_ENST00000515740.1_Intron|TMEM175_ENST00000508204.1_Intron NM_032326.2 NP_115702.1 Q9BSA9 TM175_HUMAN transmembrane protein 175 52 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3) 14 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CCCCTCAGATCCTGCCTGTGA 0.622000 19 49 0 0 1 0 0 ZNF214 7761 broad.mit.edu 37 11 7021188 7021188 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:7021188G>A ENST00000278314.4 - 3 2041 c.1726C>T c.(1726-1728)Cat>Tat p.H576Y ZNF214_ENST00000536068.1_Missense_Mutation_p.H576Y NM_013249.2 NP_037381.2 Q9UL59 ZN214_HUMAN zinc finger protein 214 576 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) TCTCCTGCATGGACTCTTTGA 0.368000 21 19 0 0 1 0 0 TSPAN18 90139 broad.mit.edu 37 11 44940819 44940819 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:44940819G>A ENST00000340160.3 + 6 627 c.388G>A c.(388-390)Gac>Aac p.D130N TSPAN18_ENST00000520358.2_Missense_Mutation_p.D130N NM_130783.4 NP_570139.3 Q96SJ8 TSN18_HUMAN tetraspanin 18 130 integral to membrane endometrium(1)|large_intestine(6)|lung(3) 10 GGGCAATAACGACACAGACGT 0.557000 9 30 0 0 1 0 0 TAS2R4 50832 broad.mit.edu 37 7 141478805 141478805 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:141478805G>A ENST00000247881.2 + 1 564 c.517G>A c.(517-519)Ggc>Agc p.G173S SSBP1_ENST00000465582.1_Intron NM_016944.1 NP_058640.1 Q9NYW5 TA2R4_HUMAN taste receptor, type 2, member 4 173 sensory perception of taste cilium membrane taste receptor activity endometrium(1)|large_intestine(4)|lung(2) 7 Melanoma(164;0.0171) BRCA - Breast invasive adenocarcinoma(188;0.196) TATCAGTGAGGGCATCTTGTC 0.423000 76 88 0 0 1 0 0 ABCA1 19 broad.mit.edu 37 9 107581983 107581983 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:107581983G>A ENST00000374736.3 - 22 3519 c.3125C>T c.(3124-3126)tCt>tTt p.S1042F NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 1042 ABC transporter 1. Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CAAGGCCACAGATAGCTTTCT 0.547000 19 38 0 0 1 0 0 LNPEP 4012 broad.mit.edu 37 5 96315573 96315573 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:96315573C>T ENST00000231368.5 + 2 1443 c.751C>T c.(751-753)Ctt>Ttt p.L251F LNPEP_ENST00000395770.3_Missense_Mutation_p.L237F NM_005575.2 NP_005566.2 Q9UIQ6 LCAP_HUMAN leucyl/cystinyl aminopeptidase 251 cell-cell signaling|female pregnancy|proteolysis extracellular region|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 34 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) CCCCGAAGCCCTTCTAGCAGG 0.413000 18 3 0 0 1 0 0 LMO7 4008 broad.mit.edu 37 13 76395465 76395465 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr13:76395465C>T ENST00000357063.3 + 15 3776 c.2516C>T c.(2515-2517)cCt>cTt p.P839L LMO7_ENST00000526202.1_Missense_Mutation_p.P404L|LMO7_ENST00000321797.8_Missense_Mutation_p.P554L|LMO7_ENST00000377534.3_Missense_Mutation_p.P839L|LMO7_ENST00000341547.4_Missense_Mutation_p.P505L|LMO7_ENST00000465261.2_Missense_Mutation_p.P554L Q8WWI1 LMO7_HUMAN LIM domain 7 839 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) GCAACTTATCCTTCAGAAATT 0.433000 13 19 0 0 1 0 0 LGSN 51557 broad.mit.edu 37 6 63990680 63990680 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:63990680G>A ENST00000370657.4 - 4 809 c.776C>T c.(775-777)tCc>tTc p.S259F LGSN_ENST00000370658.5_Intron Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 259 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) CCTGGTAGAGGAGGAAAAACT 0.433000 11 12 0 0 1 0 0 SORBS2 8470 broad.mit.edu 37 4 186544650 186544650 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:186544650G>A ENST00000431808.1 - 14 2484 c.1921C>T c.(1921-1923)Cac>Tac p.H641Y SORBS2_ENST00000355634.5_Missense_Mutation_p.H741Y|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.H641Y|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.H545Y|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000437304.2_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 641 His-rich. actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) tggtggtggtggtggCTGGAT 0.517000 29 14 0 0 1 0 0 TADA2B 93624 broad.mit.edu 37 4 7056685 7056685 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:7056685C>T ENST00000310074.7 + 2 1356 c.1167C>T c.(1165-1167)tcC>tcT p.S389S TADA2B_ENST00000512388.1_Silent_p.S314S|TADA2B_ENST00000515646.1_Silent_p.S297S NM_152293.2 NP_689506.2 Q86TJ2 TAD2B_HUMAN transcriptional adaptor 2B 389 regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|zinc ion binding breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 18 GAATCCCCTCCAAAAGCCGCC 0.488000 18 42 0 0 1 0 0 PIH1D1 55011 broad.mit.edu 37 19 49949662 49949662 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:49949662G>A ENST00000262265.5 - 9 1085 c.850C>T c.(850-852)Ccg>Tcg p.P284S PIH1D1_ENST00000602226.1_5'UTR|PIH1D1_ENST00000596049.1_Missense_Mutation_p.P284S NM_017916.2 NP_060386.1 Q9NWS0 PIHD1_HUMAN PIH1 domain containing 1 284 box C/D snoRNP assembly pre-snoRNP complex NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1) 11 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244) GGCAGAAGCGGCATGGCCACC 0.522000 3 30 0 0 1 0 0 RECQL4 9401 broad.mit.edu 37 8 145738661 145738661 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:145738661G>A ENST00000428558.2 - 15 2444 c.2403C>T c.(2401-2403)gcC>gcT p.A801A CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'UTR NM_004260.3 NP_004251.3 O94761 RECQ4_HUMAN RecQ protein-like 4 801 Helicase C-terminal. DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) CCCGGCCCACGGCCTGCACGT 0.721000 """N, F, S""" """osteosarcoma, skin basal and sqamous cell""" Genes defective in diseases associated with sensitivity to DNA damaging agents Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome 12 15 0 0 1 0 0 NLRC3 197358 broad.mit.edu 37 16 3614473 3614473 + RNA SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:3614473C>T ENST00000301749.7 - 0 870 NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CGAAGTGCCTCACCAGGGTGG 0.657000 28 44 0 0 1 0 0 CFAP54 144535 broad.mit.edu 37 12 97102502 97102502 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:97102502G>A ENST00000524981.3 + 15 1998 c.1998G>A c.(1996-1998)gcG>gcA p.A666A Q6ZTY8 CL063_HUMAN 640 E -> K (in dbSNP:rs7968231). breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 GTGTGGCTGCGACAATAAATT 0.338000 12 35 0 0 1 0 0 SYT9 143425 broad.mit.edu 37 11 7335110 7335110 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:7335110C>T ENST00000318881.6 + 3 1219 c.982C>T c.(982-984)Cta>Tta p.L328L SYT9_ENST00000396716.2_Silent_p.L296L NM_175733.3 NP_783860.1 Q86SS6 SYT9_HUMAN synaptotagmin IX 328 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) GGATCACTTCCTAGACTTGGC 0.478000 61 55 0 0 1 0 0 INHBA 3624 broad.mit.edu 37 7 41729504 41729504 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:41729504G>A ENST00000242208.4 - 3 1271 c.1025C>T c.(1024-1026)cCc>cTc p.P342L AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.P342L NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 342 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 ATAGCCAGAGGGAGCAATGAT 0.537000 TSP Lung(11;0.080) 37 41 0 0 1 0 0 STXBP2 6813 broad.mit.edu 37 19 7712101 7712101 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:7712101C>T ENST00000441779.2 + 17 1576 c.1539C>T c.(1537-1539)ccC>ccT p.P513P STXBP2_ENST00000414284.2_Silent_p.P499P|STXBP2_ENST00000221283.5_Silent_p.P502P|STXBP2_ENST00000602355.1_Silent_p.P37P NM_001272034.1 NP_001258963.1 Q15833 STXB2_HUMAN syntaxin binding protein 2 502 leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule syntaxin-3 binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 23 TATCCGACCCCGCCCCCACGG 0.741000 26 30 0 0 1 0 0 ITGB4 3691 broad.mit.edu 37 17 73744963 73744963 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:73744963G>A ENST00000200181.3 + 27 3340 c.3153G>A c.(3151-3153)ggG>ggA p.G1051G ITGB4_ENST00000449880.2_Silent_p.G1051G|ITGB4_ENST00000339591.3_Silent_p.G1051G|ITGB4_ENST00000579662.1_Silent_p.G1051G|ITGB4_ENST00000450894.3_Silent_p.G1051G NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 1051 Calx-beta. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) TCCAGCCTGGGGAGGCCTGGA 0.647000 9 7 0 0 1 0 0 LTBP3 4054 broad.mit.edu 37 11 65321712 65321712 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:65321712G>A ENST00000301873.5 - 2 739 c.471C>T c.(469-471)ggC>ggT p.G157G LTBP3_ENST00000322147.4_Silent_p.G157G|LTBP3_ENST00000536982.1_Intron NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 157 Gly-rich. extracellular region calcium ion binding|growth factor binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 TCCTGCTCAGGCCGGGGCCTG 0.721000 4 14 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91707125 91707125 + Missense_Mutation SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:91707125T>C ENST00000359028.2 + 31 7142 c.6917T>C c.(6916-6918)aTt>aCt p.I2306T AKAP9_ENST00000356239.3_Missense_Mutation_p.I2294T|AKAP9_ENST00000358100.2_Missense_Mutation_p.I2306T Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 2306 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GAGGTAGAAATTGACCAATTA 0.328000 T BRAF papillary thyroid 11 46 0 0 1 0 0 GPR182 11318 broad.mit.edu 37 12 57389466 57389466 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:57389466C>T ENST00000300098.1 + 2 692 c.473C>T c.(472-474)gCc>gTc p.A158V NM_007264.3 NP_009195.1 O15218 GP182_HUMAN G protein-coupled receptor 182 158 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 15 CTCACCAGCGCCTCCCCCTCC 0.602000 20 36 0 0 1 0 0 TBC1D9 23158 broad.mit.edu 37 4 141578865 141578865 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:141578865G>A ENST00000442267.2 - 12 2097 c.2023C>T c.(2023-2025)Ctg>Ttg p.L675L NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 675 Rab-GAP TBC. intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) AACCAAGACAGGGAGATGGTG 0.478000 50 40 0 0 1 0 0 SYT13 57586 broad.mit.edu 37 11 45265864 45265864 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:45265864C>T ENST00000020926.3 - 6 1131 c.1020G>A c.(1018-1020)ctG>ctA p.L340L NM_001247987.1|NM_020826.2 NP_001234916.1|NP_065877.1 Q7L8C5 SYT13_HUMAN synaptotagmin XIII 340 C2 2. transport vesicle breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2) 23 GCTTCTTCTTCAGCTTCCGAG 0.532000 18 12 0 0 1 0 0 EDNRB 1910 broad.mit.edu 37 13 78477464 78477464 + Missense_Mutation SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr13:78477464T>C ENST00000377211.4 - 4 1050 c.898A>G c.(898-900)Aaa>Gaa p.K300E EDNRB_ENST00000446573.1_Missense_Mutation_p.K210E|EDNRB_ENST00000334286.5_Missense_Mutation_p.K210E NM_001201397.1 NP_001188326.1 P24530 EDNRB_HUMAN endothelin receptor type B 210 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3) 42 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) CCAATTCCTTTAATTCTACTC 0.358000 25 68 0 0 1 0 0 CLMN 79789 broad.mit.edu 37 14 95679660 95679660 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:95679660G>A ENST00000298912.4 - 6 617 c.504C>T c.(502-504)tcC>tcT p.S168S NM_024734.3 NP_079010.2 Q96JQ2 CLMN_HUMAN calmin (calponin-like, transmembrane) 168 Actin-binding. integral to membrane actin binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) TGGGTGGGAAGGATGAGTCTG 0.552000 36 23 0 0 1 0 0 THEG 51298 broad.mit.edu 37 19 362368 362368 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:362368C>T ENST00000342640.4 - 8 1014 c.972G>A c.(970-972)ctG>ctA p.L324L THEG_ENST00000346878.2_Silent_p.L300L NM_016585.4 NP_057669.1 Q9P2T0 THEG_HUMAN theg spermatid protein 324 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1) 29 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) TGGTGACATCCAGCACCTCCC 0.617000 50 53 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189456537 189456537 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:189456537G>A ENST00000264731.3 + 3 387 c.298G>A c.(298-300)Gac>Aac p.D100N TP63_ENST00000382063.4_Missense_Mutation_p.D100N|TP63_ENST00000418709.2_Missense_Mutation_p.D100N|TP63_ENST00000440651.2_Missense_Mutation_p.D100N|TP63_ENST00000320472.5_Missense_Mutation_p.D100N|TP63_ENST00000392460.3_Missense_Mutation_p.D100N NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 100 Transcription activation. anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) CCGCATGCAGGACTCGGACCT 0.473000 HNSCC(45;0.13) 6 23 0 0 1 0 0 OR56A3 390083 broad.mit.edu 37 11 5969156 5969156 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:5969156G>A ENST00000329564.6 + 1 587 c.580G>A c.(580-582)Gat>Aat p.D194N NM_001003443.2 NP_001003443.2 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, member 3 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACTCTCCTGCGATGATGTCAC 0.473000 32 31 0 0 1 0 0 SLC4A2 6522 broad.mit.edu 37 7 150761399 150761399 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:150761399C>T ENST00000485713.1 + 3 1202 c.162C>T c.(160-162)gcC>gcT p.A54A SLC4A2_ENST00000413384.2_Silent_p.A54A|SLC4A2_ENST00000461735.1_Silent_p.A40A|SLC4A2_ENST00000310317.5_Intron|SLC4A2_ENST00000392826.2_Silent_p.A45A NM_001199692.1 NP_001186621.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 54 Pro-rich. bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TACAGGAGGCCGGGTCTCGTG 0.662000 14 17 0 0 1 0 0 HORMAD2 150280 broad.mit.edu 37 22 30494841 30494841 + Splice_Site SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:30494841G>A ENST00000336726.6 + 3 407 c.51_splice c.e3-1 p.E18_splice HORMAD2_ENST00000403975.1_Splice_Site_p.E18_splice NM_152510.2 NP_689723.1 Q8N7B1 HORM2_HUMAN HORMA domain containing 2 18 meiosis|mitosis chromosome|nucleus large_intestine(1)|lung(1) 2 Epithelial(10;0.125) GTTTTTCCAGGAAACAGTTTT 0.338000 13 38 0 0 1 0 0 GYPA 2993 broad.mit.edu 37 4 145038071 145038071 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:145038071C>T ENST00000360771.4 - 5 408 c.293G>A c.(292-294)gGg>gAg p.G98E GYPA_ENST00000504786.1_Missense_Mutation_p.G66E|GYPA_ENST00000324022.10_Missense_Mutation_p.G65E|GYPA_ENST00000512064.1_Missense_Mutation_p.G85E|RP11-673E1.4_ENST00000506982.1_RNA|GYPB_ENST00000283126.7_Intron|GYPA_ENST00000512789.1_Missense_Mutation_p.G33E|GYPA_ENST00000503627.1_Missense_Mutation_p.G53E|GYPA_ENST00000535709.1_Missense_Mutation_p.G72E NM_002099.6 NP_002090.4 P02724 GLPA_HUMAN glycophorin A (MNS blood group) 98 interspecies interaction between organisms membrane fraction receptor activity central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 10 all_hematologic(180;0.15) AGCCATCACCCCAAAAATAAT 0.343000 24 36 0 0 1 0 0 KLF12 11278 broad.mit.edu 37 13 74269665 74269665 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr13:74269665G>A ENST00000377669.2 - 7 1197 c.1171C>T c.(1171-1173)Cat>Tat p.H391Y KLF12_ENST00000377666.4_Missense_Mutation_p.H391Y NM_007249.4 NP_009180.3 Q9Y4X4 KLF12_HUMAN Kruppel-like factor 12 391 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 16 Prostate(6;0.00217)|Breast(118;0.0838) GBM - Glioblastoma multiforme(99;0.00677) AGGGCCAAATGATCTGACCGG 0.547000 21 30 0 0 1 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227222395 227222395 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:227222395G>A ENST00000366769.3 - 25 4623 c.3332C>T c.(3331-3333)tCt>tTt p.S1111F CDC42BPA_ENST00000366767.3_Missense_Mutation_p.S1030F|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.S1124F|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.S1111F|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.S1146F|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.S1083F|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.S1091F NM_003607.3 NP_003598.2 Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 1124 PH. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) ACTGGGCTGAGATGCTTTTCC 0.393000 12 88 0 0 1 0 0 RRP12 23223 broad.mit.edu 37 10 99139478 99139478 + Missense_Mutation SNP G G T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:99139478G>T ENST00000370992.4 - 14 1694 c.1583C>A c.(1582-1584)aCg>aAg p.T528K RRP12_ENST00000315563.6_Missense_Mutation_p.T428K|RRP12_ENST00000536831.1_Missense_Mutation_p.T246K|RRP12_ENST00000414986.1_Missense_Mutation_p.T467K NM_015179.3 NP_055994.2 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog (S. cerevisiae) 528 integral to membrane|nuclear membrane|nucleolus protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) AAGAGCCGCCGTGTGGGGGAA 0.592000 40 9 8.16277e-20 8.29704e-20 1 1 0 MYH9 4627 broad.mit.edu 37 22 36689450 36689450 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:36689450G>A ENST00000216181.5 - 30 4250 c.4020C>T c.(4018-4020)tcC>tcT p.S1340S NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1340 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 GCTCCCGGAAGGAATTCTTCT 0.637000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 30 58 0 0 1 0 0 SLC2A13 114134 broad.mit.edu 37 12 40345071 40345071 + Missense_Mutation SNP A A G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:40345071A>G ENST00000280871.4 - 4 1072 c.1022T>C c.(1021-1023)aTt>aCt p.I341T SLC2A13_ENST00000380858.1_Missense_Mutation_p.I341T NM_052885.3 NP_443117.3 Q96QE2 MYCT_HUMAN solute carrier family 2 (facilitated glucose transporter), member 13 341 integral to membrane|plasma membrane myo-inositol:hydrogen symporter activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 29 Lung NSC(34;0.105)|all_lung(34;0.123) GATGGTGTTAATGCCTGAGAG 0.383000 HNSCC(50;0.14) 12 13 0 0 1 0 0 OGG1 4968 broad.mit.edu 37 3 9793534 9793534 + Missense_Mutation SNP A A T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:9793534A>T ENST00000302036.7 + 3 809 c.466A>T c.(466-468)Act>Tct p.T156S OGG1_ENST00000302003.7_Missense_Mutation_p.T156S|OGG1_ENST00000339511.5_Missense_Mutation_p.T156S|OGG1_ENST00000344629.7_Missense_Mutation_p.T156S|OGG1_ENST00000383826.5_Missense_Mutation_p.T156S|OGG1_ENST00000302008.8_Missense_Mutation_p.T156S|OGG1_ENST00000449570.2_Missense_Mutation_p.T156S|OGG1_ENST00000349503.5_Missense_Mutation_p.T156S NM_016821.2 NP_058214.1 O15527 OGG1_HUMAN 8-oxoguanine DNA glycosylase 156 depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation mitochondrion|nuclear matrix|nuclear speck damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1) 8 Medulloblastoma(99;0.227) CGCCCGCATCACTGGCATGGT 0.572000 Base excision repair (BER), DNA glycosylases 66 46 0 0 1 0 0 C8A 731 broad.mit.edu 37 1 57372418 57372418 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:57372418G>A ENST00000361249.3 + 8 1271 c.1175G>A c.(1174-1176)gGa>gAa p.G392E NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 392 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 AATGTTGGTGGAGGTTTATCA 0.413000 15 102 0 0 1 0 0 DCAF8L2 347442 broad.mit.edu 37 X 27766203 27766203 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:27766203G>A ENST00000451261.2 + 5 1590 c.1191G>A c.(1189-1191)agG>agA p.R397R NM_001136533.1 NP_001130005.1 DDB1 and CUL4 associated factor 8-like 2 central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3) 24 ATGACCAGAGGAAAATTGATA 0.393000 10 5 0 0 1 0 0 ALDH2 217 broad.mit.edu 37 12 112228368 112228368 + Splice_Site SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:112228368T>C ENST00000261733.2 + 6 742 c.e6+2 RP11-162P23.2_ENST00000546840.2_Splice_Site|ALDH2_ENST00000416293.3_Splice_Site NM_000690.3 NP_000681.2 P05091 ALDH2_HUMAN aldehyde dehydrogenase 2 family (mitochondrial) carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process mitochondrial matrix aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1) 22 Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727) ATCAAGGAGGTGCGTGGCTTA 0.542000 T HMGA2 leiomyoma 18 15 0 0 1 0 0 DNAJB7 150353 broad.mit.edu 37 22 41257102 41257102 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:41257102C>T ENST00000307221.4 - 1 1028 c.897G>A c.(895-897)gaG>gaA p.E299E XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000541156.1_Intron NM_145174.1 NP_660157.1 Q7Z6W7 DNJB7_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 7 299 protein folding heat shock protein binding|unfolded protein binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 10 TCTTTTGCACCTCTTTACGCT 0.363000 18 56 0 0 1 0 0 ENPP5 59084 broad.mit.edu 37 6 46135701 46135701 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:46135701C>T ENST00000371383.2 - 3 559 c.299G>A c.(298-300)cGg>cAg p.R100Q ENPP5_ENST00000230565.3_Missense_Mutation_p.R100Q Q9UJA9 ENPP5_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) 100 extracellular region|integral to membrane hydrolase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 12 AGATTTGTTCCGAATAGGATC 0.378000 27 16 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2876008 2876008 + Nonsense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:2876008G>A ENST00000602557.1 - 53 8578 c.8023C>T c.(8023-8025)Cga>Tga p.R2675* CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.R2674*|CSMD1_ENST00000520002.1_Nonsense_Mutation_p.R2675* Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2675 Sushi 17. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CCCAGACATCGAGTTTCGCTG 0.458000 93 118 0 0 1 0 0 CATSPER1 117144 broad.mit.edu 37 11 65793107 65793107 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:65793107G>A ENST00000312106.5 - 1 881 c.744C>T c.(742-744)tcC>tcT p.S248S NM_053054.3 NP_444282.3 Q8NEC5 CTSR1_HUMAN cation channel, sperm associated 1 248 His-rich. cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 AGGAATGAGGGGAAATGGTCT 0.577000 6 15 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121767706 121767706 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:121767706G>A ENST00000261367.7 + 8 2794 c.1366G>A c.(1366-1368)Gaa>Aaa p.E456K SNCAIP_ENST00000542191.1_5'UTR|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E456K|SNCAIP_ENST00000261368.8_Missense_Mutation_p.E409K|SNCAIP_ENST00000379536.2_Missense_Mutation_p.E349K|SNCAIP_ENST00000379538.3_Missense_Mutation_p.E43K|SNCAIP_ENST00000503116.2_Missense_Mutation_p.E456K|SNCAIP_ENST00000414317.2_Intron Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 409 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) GAGCGAAACAGAAGCCATTGC 0.408000 8 3 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57327492 57327492 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:57327492G>A ENST00000326441.9 - 10 2681 c.2318C>T c.(2317-2319)tCa>tTa p.S773L PEG3_ENST00000593695.1_Missense_Mutation_p.S647L|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.S773L|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.S649L|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 773 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CCTCTCATATGATTTTGCCTC 0.438000 46 112 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098748 11098748 + RNA SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr21:11098748C>T ENST00000470054.1 - 0 177 B melanoma antigen family, member 2 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) cttactgctccagccccactc 0.622000 10 186 0 0 1 0 0 CYTIP 9595 broad.mit.edu 37 2 158275099 158275099 + Missense_Mutation SNP T T A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:158275099T>A ENST00000264192.3 - 7 670 c.549A>T c.(547-549)caA>caT p.Q183H CYTIP_ENST00000540637.1_Missense_Mutation_p.Q77H NM_004288.4 NP_004279.3 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 183 Interaction with CYTH1. regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 GTTTCAAAGTTTGCTGTGAGa 0.328000 19 63 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7340418 7340418 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:7340418G>A ENST00000486284.1 + 3 1058 c.784G>A c.(784-786)Gac>Aac p.D262N GRM7_ENST00000402647.2_Missense_Mutation_p.D262N|GRM7_ENST00000403881.1_Missense_Mutation_p.D262N|GRM7_ENST00000389336.4_Missense_Mutation_p.D262N|GRM7_ENST00000357716.4_Missense_Mutation_p.D262N NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 262 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) GGAACGCAAAGACAGGACCAT 0.448000 19 19 0 0 1 0 0 AHSA1 10598 broad.mit.edu 37 14 77928548 77928548 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:77928548C>T ENST00000216479.3 + 3 477 c.317C>T c.(316-318)cCc>cTc p.P106L AHSA1_ENST00000555457.1_3'UTR|AHSA1_ENST00000535854.2_Missense_Mutation_p.P106L NM_012111.2 NP_036243.1 O95433 AHSA1_HUMAN AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast) 106 protein folding|response to stress cytosol|endoplasmic reticulum ATPase activator activity|chaperone binding endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1) 8 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) GTGGAGATCCCCAATTTGTCT 0.428000 23 20 0 0 1 0 0 PEAR1 375033 broad.mit.edu 37 1 156879667 156879667 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:156879667C>T ENST00000338302.3 + 13 1761 c.1536C>T c.(1534-1536)acC>acT p.T512T PEAR1_ENST00000292357.7_Silent_p.T512T Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 512 EGF-like 6. integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GTACCTGCACCCCTGGGTGGC 0.677000 13 88 0 0 1 0 0 BZRAP1 9256 broad.mit.edu 37 17 56403075 56403075 + Splice_Site SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:56403075C>T ENST00000355701.3 - 4 1441 c.e4-1 BZRAP1_ENST00000343736.4_Splice_Site|BZRAP1_ENST00000268893.6_Intron|BZRAP1-AS1_ENST00000579527.1_RNA NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGGCACTCACCTAGCCAGAGG 0.637000 17 17 0 0 1 0 0 RANBP3L 202151 broad.mit.edu 37 5 36269561 36269561 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:36269561C>T ENST00000296604.3 - 4 684 c.199G>A c.(199-201)Ggt>Agt p.G67S RANBP3L_ENST00000515759.1_Missense_Mutation_p.G67S|RANBP3L_ENST00000502994.1_Missense_Mutation_p.G67S NM_145000.3 NP_659437.3 Q86VV4 RNB3L_HUMAN RAN binding protein 3-like 67 intracellular transport endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 16 all_lung(31;4.52e-05) Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202) GTTGGAAAACCATTACATTCT 0.353000 31 10 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241697798 241697798 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:241697798G>A ENST00000498729.2 - 26 2807 c.2561C>T c.(2560-2562)cCc>cTc p.P854L KIF1A_ENST00000320389.7_Missense_Mutation_p.P845L NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 845 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) CCGGAACCAGGGGAAGCGGTC 0.637000 25 9 0 0 1 0 0 SLC24A3 57419 broad.mit.edu 37 20 19698203 19698203 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:19698203C>T ENST00000328041.6 + 16 1948 c.1751C>T c.(1750-1752)tCc>tTc p.S584F NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 584 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CTGATCTACTCCGTAGGCTTG 0.502000 283 181 0 0 1 0 0 PAF1 54623 broad.mit.edu 37 19 39880154 39880154 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:39880154C>T ENST00000221265.3 - 5 655 c.325G>A c.(325-327)Gaa>Aaa p.E109K PAF1_ENST00000221266.7_Missense_Mutation_p.E99K|PAF1_ENST00000595564.1_Missense_Mutation_p.E99K NM_019088.3 NP_061961.2 Q8N7H5 PAF1_HUMAN Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) 109 histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2) 17 all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) ATCTCCTCTTCCAAAAGTTTC 0.587000 15 36 0 0 1 0 0 PC 5091 broad.mit.edu 37 11 66620223 66620223 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:66620223G>A ENST00000393960.1 - 14 1879 c.1598C>T c.(1597-1599)cCc>cTc p.P533L PC_ENST00000393955.2_Missense_Mutation_p.P533L|PC_ENST00000393958.2_Missense_Mutation_p.P533L NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 533 gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) CCTACCTATGGGCACTGCAGG 0.632000 24 22 0 0 1 0 0 ANKFN1 162282 broad.mit.edu 37 17 54558059 54558059 + Silent SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:54558059T>C ENST00000566473.2 + 16 1980 c.1980T>C c.(1978-1980)tcT>tcC p.S660S ANKFN1_ENST00000318698.2_Silent_p.S660S Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 660 NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 AAAAGCTTTCTGGCTCTGAAT 0.408000 4 97 0 0 1 0 0 OR52A5 390054 broad.mit.edu 37 11 5153366 5153366 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:5153366C>T ENST00000307388.1 - 1 506 c.507G>A c.(505-507)ctG>ctA p.L169L NM_001005160.2 NP_001005160.1 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, member 5 169 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3) 35 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) GATAGTGTTTCAGACAGCATT 0.453000 11 45 0 0 1 0 0 OR6X1 390260 broad.mit.edu 37 11 123624923 123624923 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:123624923G>A ENST00000327930.2 - 1 330 c.304C>T c.(304-306)Cac>Tac p.H102Y NM_001005188.1 NP_001005188.1 Q8NH79 OR6X1_HUMAN olfactory receptor, family 6, subfamily X, member 1 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2) 23 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) ACGAAGAAGTGGAAGAAGGCC 0.517000 5 16 0 0 1 0 0 MET 4233 broad.mit.edu 37 7 116435842 116435842 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:116435842C>T ENST00000397752.3 + 20 4132 c.3932C>T c.(3931-3933)cCc>cTc p.P1311L MET_ENST00000539704.1_Missense_Mutation_p.P181L|MET_ENST00000318493.6_Missense_Mutation_p.P1329L NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 1311 Interaction with RANBP9.|Protein kinase. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) TGCCCAGACCCCTTGTAAGTA 0.428000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) OREG0003446 type=REGULATORY REGION|Gene=MET|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 69 68 0 0 1 0 0 LIX1L 128077 broad.mit.edu 37 1 145492376 145492376 + Splice_Site SNP G G T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:145492376G>T ENST00000369308.3 + 3 671 c.e3+1 RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000437207.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA NM_153713.1 NP_714924.1 Q8IVB5 LIX1L_HUMAN Lix1 homolog (mouse)-like large_intestine(4)|lung(6)|ovary(2)|skin(1) 13 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ATCTTTTAATGTAAGTTGTAT 0.433000 16 65 1.45105e-14 1.47325e-14 1 1 0 TMC2 117532 broad.mit.edu 37 20 2560642 2560642 + Nonsense_Mutation SNP G G A rs143423360 TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:2560642G>A ENST00000358864.1 + 7 789 c.774G>A c.(772-774)tgG>tgA p.W258* NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 258 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 TTCTCCGATGGATGTATGGAG 0.403000 58 33 0 0 1 0 0 DACT1 51339 broad.mit.edu 37 14 59113512 59113512 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:59113512C>T ENST00000395153.3 + 4 2207 c.2060C>T c.(2059-2061)tCc>tTc p.S687F DACT1_ENST00000556859.1_Missense_Mutation_p.S443F|DACT1_ENST00000395151.3_Missense_Mutation_p.S443F|DACT1_ENST00000335867.4_Missense_Mutation_p.S724F|DACT1_ENST00000541264.2_Missense_Mutation_p.S443F NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 724 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 GCTAGCGACTCCGAGTACTCG 0.667000 17 79 0 0 1 0 0 SAC3D1 29901 broad.mit.edu 37 11 64812008 64812008 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:64812008G>A ENST00000398846.1 + 2 1275 c.886G>A c.(886-888)Gcc>Acc p.A296T SAC3D1_ENST00000530213.1_3'UTR|SAC3D1_ENST00000531072.1_Missense_Mutation_p.A296T NM_013299.3 NP_037431.3 SAC3 domain containing 1 endometrium(2)|lung(1) 3 CCTGTGCCAGGCCCACGGGCT 0.622000 25 22 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19544045 19544045 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:19544045C>T ENST00000507958.1 - 11 2313 c.1323G>A c.(1321-1323)agG>agA p.R441R CDH18_ENST00000382275.1_Silent_p.R441R|CDH18_ENST00000511273.1_Silent_p.R441R|CDH18_ENST00000502796.1_Silent_p.R441R|CDH18_ENST00000506372.1_Silent_p.R441R|CDH18_ENST00000274170.4_Silent_p.R441R Q13634 CAD18_HUMAN cadherin 18, type 2 441 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) CCTTTGTAGTCCTAATGGTCC 0.353000 33 8 0 0 1 0 0 IFI44 10561 broad.mit.edu 37 1 79120881 79120881 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:79120881G>A ENST00000370747.4 + 4 762 c.677G>A c.(676-678)gGg>gAg p.G226E IFI44_ENST00000495254.1_3'UTR|IFI44_ENST00000545124.1_5'UTR NM_006417.4 NP_006408.3 Q8TCB0 IFI44_HUMAN interferon-induced protein 44 226 response to virus cytoplasm central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 21 AATACAACTGGGATATCTGAG 0.428000 12 74 0 0 1 0 0 ZNF236 7776 broad.mit.edu 37 18 74592081 74592081 + Nonsense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr18:74592081C>T ENST00000253159.8 + 8 1189 c.991C>T c.(991-993)Cag>Tag p.Q331* ZNF236_ENST00000320610.9_Nonsense_Mutation_p.Q333* NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 331 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) CACACTTTTTCAGACGTTACC 0.448000 31 48 0 0 1 0 0 BCL9L 283149 broad.mit.edu 37 11 118779354 118779354 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:118779354G>A ENST00000334801.3 - 2 1001 c.37C>T c.(37-39)Ccc>Tcc p.P13S BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 13 negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) CTCCTCCTGGGGTGGGGTAAC 0.582000 13 26 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9064917 9064917 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:9064917G>A ENST00000397910.4 - 3 22732 c.22529C>T c.(22528-22530)aCc>aTc p.T7510I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7512 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AATGGAGATGGTACCCATTGC 0.473000 23 39 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139151314 139151314 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:139151314C>T ENST00000395297.1 - 18 3986 c.3816G>A c.(3814-3816)aaG>aaA p.K1272K NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1272 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ACCCGGATTTCTTCAGTTTCT 0.398000 HNSCC(54;0.14) 15 54 0 0 1 0 0 TPSG1 25823 broad.mit.edu 37 16 1272654 1272654 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:1272654C>T ENST00000234798.4 - 4 513 c.509G>A c.(508-510)gGa>gAa p.G170E NM_012467.3 NP_036599.3 Q9NRR2 TRYG1_HUMAN tryptase gamma 1 170 Peptidase S1. proteolysis integral to plasma membrane serine-type endopeptidase activity liver(1)|lung(2)|skin(1) 4 Hepatocellular(780;0.00369) CTCCTCACCTCCCTCCCGCGT 0.667000 78 101 0 0 1 0 0 BCR 613 broad.mit.edu 37 22 23656240 23656240 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:23656240C>T ENST00000305877.8 + 21 4294 c.3543C>T c.(3541-3543)ttC>ttT p.F1181F BCR_ENST00000359540.3_Silent_p.F1137F|BCR_ENST00000436990.2_3'UTR NM_004327.3 NP_004318.3 P11274 BCR_HUMAN breakpoint cluster region 1181 Rho-GAP. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 CCTTCCTTTTCCTTCTGGACC 0.627000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 64 57 0 0 1 0 0 ARMC5 79798 broad.mit.edu 37 16 31477864 31477864 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:31477864C>T ENST00000408912.3 + 8 3064 c.2747C>T c.(2746-2748)cCc>cTc p.P916L ARMC5_ENST00000412665.2_Missense_Mutation_p.P465L|ARMC5_ENST00000268314.4_Missense_Mutation_p.P821L|ARMC5_ENST00000563544.1_Missense_Mutation_p.P821L|ARMC5_ENST00000538189.1_Missense_Mutation_p.P853L|ARMC5_ENST00000457010.2_3'UTR Q96C12 ARMC5_HUMAN armadillo repeat containing 5 821 binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 GGGCCCGTGCCCCCACCAGGC 0.692000 14 23 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995832 140995832 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:140995832C>T ENST00000285879.4 + 4 2928 c.2642C>T c.(2641-2643)tCc>tTc p.S881F MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 881 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TATACAAGTTCCTCAGACACC 0.493000 HNSCC(15;0.026) 101 9 0 0 1 0 0 NCKAP1 10787 broad.mit.edu 37 2 183860544 183860544 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:183860544G>A ENST00000360982.2 - 8 1402 c.644C>T c.(643-645)tCt>tTt p.S215F NCKAP1_ENST00000361354.3_Missense_Mutation_p.S209F NM_205842.1 NP_995314.1 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 209 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) CATTTGAAGAGAAATTAGTGC 0.358000 24 10 0 0 1 0 0 RGS7 6000 broad.mit.edu 37 1 241262022 241262022 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:241262022C>T ENST00000366565.1 - 3 500 c.119G>A c.(118-120)gGa>gAa p.G40E RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000407727.1_Missense_Mutation_p.G40E|RGS7_ENST00000366563.1_Missense_Mutation_p.G40E|RGS7_ENST00000401882.1_Missense_Mutation_p.G40E|RGS7_ENST00000348120.2_Missense_Mutation_p.G40E|RGS7_ENST00000331110.7_Missense_Mutation_p.G14E|RGS7_ENST00000366564.1_Missense_Mutation_p.G40E|RGS7_ENST00000366562.4_Missense_Mutation_p.G40E NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 40 DEP. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) AATAGGAATTCCATTTTTTTC 0.348000 10 62 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 114111003 114111003 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:114111003G>A ENST00000297405.5 - 5 1143 c.899C>T c.(898-900)tCt>tTt p.S300F CSMD3_ENST00000352409.3_Missense_Mutation_p.S300F|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000343508.3_Missense_Mutation_p.S260F|CSMD3_ENST00000455883.2_Missense_Mutation_p.S300F NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 300 CUB 2. integral to membrane|plasma membrane p.S300F(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AGGTGGCTCAGAACCTTCTAT 0.363000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 9 16 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40433514 40433514 + Missense_Mutation SNP T T A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:40433514T>A ENST00000221347.6 - 2 762 c.755A>T c.(754-756)tAt>tTt p.Y252F NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 252 IgGFc-binding. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGGTACTACATAGTGGGTGCC 0.592000 21 34 0 0 1 0 0 ATP11A 23250 broad.mit.edu 37 13 113536357 113536357 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr13:113536357C>T ENST00000375630.2 + 29 3643 c.3555C>T c.(3553-3555)tcC>tcT p.S1185S ATP11A_ENST00000487903.1_3'UTR|ATP11A_ENST00000375645.3_3'UTR NM_032189.3 NP_115565.3 P98196 AT11A_HUMAN ATPase, class VI, type 11A 0 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) GCCCTAGGTCCCGTGTGGGAA 0.637000 17 98 0 0 1 0 0 IGFN1 91156 broad.mit.edu 37 1 201185595 201185595 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:201185595C>T ENST00000335211.4 + 16 9439 c.9309C>T c.(9307-9309)ccC>ccT p.P3103P IGFN1_ENST00000295591.8_Silent_p.P263P NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 AGCCTGATCCCCCACAAGGCC 0.677000 26 10 0 0 1 0 0 LPIN3 64900 broad.mit.edu 37 20 39983347 39983347 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:39983347C>T ENST00000373257.3 + 12 1681 c.1590C>T c.(1588-1590)tcC>tcT p.S530S NM_022896.1 NP_075047.1 Q9BQK8 LPIN3_HUMAN lipin 3 530 fatty acid metabolic process nucleus phosphatidate phosphatase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Myeloproliferative disorder(115;0.000739) GGTGGTTTTCCTGGCGACGCA 0.627000 79 38 0 0 1 0 0 SLC22A17 51310 broad.mit.edu 37 14 23817500 23817500 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:23817500G>A ENST00000354772.3 - 6 1211 c.708C>T c.(706-708)ttC>ttT p.F236F SLC22A17_ENST00000206544.8_Silent_p.F236F|SLC22A17_ENST00000397260.3_Silent_p.F125F|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397267.1_Silent_p.F236F NM_016609.3 NP_057693.3 Q8WUG5 S22AH_HUMAN solute carrier family 22, member 17 236 siderophore transport integral to organelle membrane|integral to plasma membrane|vacuolar membrane transmembrane receptor activity|transmembrane transporter activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00643) CGGACTCCAGGAACAAACCAG 0.617000 53 58 0 0 1 0 0 POLDIP3 84271 broad.mit.edu 37 22 42998027 42998027 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:42998027G>A ENST00000252115.5 - 3 590 c.486C>T c.(484-486)ccC>ccT p.P162P POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000451060.2_Silent_p.P6P|POLDIP3_ENST00000348657.2_Intron NM_032311.3 NP_115687.2 Q9BY77 PDIP3_HUMAN polymerase (DNA-directed), delta interacting protein 3 162 positive regulation of translation cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1) 16 CGGCAGGATGGGGATGAAGTG 0.507000 35 65 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179641543 179641543 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:179641543C>T ENST00000589042.1 - 28 5272 c.5048G>A c.(5047-5049)cGa>cAa p.R1683Q TTN_ENST00000460472.2_Missense_Mutation_p.R1637Q|TTN_ENST00000342175.6_Missense_Mutation_p.R1637Q|TTN_ENST00000360870.5_Missense_Mutation_p.R1683Q|TTN_ENST00000359218.5_Missense_Mutation_p.R1637Q|TTN_ENST00000591111.1_Missense_Mutation_p.R1683Q|TTN_ENST00000342992.6_Missense_Mutation_p.R1683Q NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1438 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTGGCCATATCGCAAATGGAG 0.458000 11 45 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152639303 152639303 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:152639303C>T ENST00000367255.5 - 86 17086 c.16485G>A c.(16483-16485)aaG>aaA p.K5495K SYNE1_ENST00000356820.4_Silent_p.K19K|SYNE1_ENST00000448038.1_Silent_p.K5424K|SYNE1_ENST00000423061.1_Silent_p.K5424K|SYNE1_ENST00000265368.4_Silent_p.K5495K|SYNE1_ENST00000341594.5_Intron NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5495 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGGCCAGTGGCTTACCCAGTT 0.453000 HNSCC(10;0.0054) 25 37 0 0 1 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18955513 18955513 + Silent SNP G G A rs137866403 byFrequency TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:18955513G>A ENST00000302797.3 - 1 1043 c.819C>T c.(817-819)ttC>ttT p.F273F NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 273 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 AGCCCACGAAGAAGTAAATGA 0.502000 24 82 0 0 1 0 0 RHBDD3 25807 broad.mit.edu 37 22 29656197 29656197 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:29656197G>A ENST00000216085.7 - 7 1437 c.1013C>T c.(1012-1014)cCt>cTt p.P338L NM_012265.1 NP_036397.1 Q9Y3P4 RHBD3_HUMAN rhomboid domain containing 3 338 UBA. integral to membrane serine-type endopeptidase activity lung(1)|ovary(1) 2 CTGCTCCGTAGGGAAGCCCAT 0.677000 4 7 0 0 1 0 0 SIM1 6492 broad.mit.edu 37 6 100841743 100841743 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:100841743C>T ENST00000369208.3 - 11 1972 c.1190G>A c.(1189-1191)aGa>aAa p.R397K SIM1_ENST00000262901.4_Missense_Mutation_p.R397K P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 397 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) AGATTCCGATCTTTCTGTGTG 0.502000 8 28 0 0 1 0 0 VANGL1 81839 broad.mit.edu 37 1 116206695 116206695 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:116206695C>T ENST00000355485.2 + 4 889 c.618C>T c.(616-618)gtC>gtT p.V206V VANGL1_ENST00000369510.3_Silent_p.V204V|VANGL1_ENST00000369509.1_Silent_p.V206V|VANGL1_ENST00000310260.3_Silent_p.V206V NM_001172411.1|NM_138959.2 NP_001165882.1|NP_620409.1 Q8TAA9 VANG1_HUMAN VANGL planar cell polarity protein 1 206 multicellular organismal development integral to membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1) 27 Lung SC(450;0.211) all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) TTTACGGGGTCCGCATTTTGG 0.517000 27 166 0 0 1 0 0 TCP10L 140290 broad.mit.edu 37 21 33956515 33956515 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr21:33956515C>T ENST00000300258.3 - 2 213 c.100G>A c.(100-102)Gca>Aca p.A34T NM_144659.5 NP_653260.1 t-complex 10-like breast(1)|central_nervous_system(1)|liver(1)|skin(1) 4 ACCTCGGCTGCCACAGCTGTC 0.627000 32 68 0 0 1 0 0 PPIL2 23759 broad.mit.edu 37 22 22040809 22040809 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:22040809C>T ENST00000406385.1 + 11 812 c.752C>T c.(751-753)aCc>aTc p.T251I PPIL2_ENST00000335025.7_Missense_Mutation_p.T251I|PPIL2_ENST00000456792.2_Missense_Mutation_p.T230I|PPIL2_ENST00000492445.2_Missense_Mutation_p.T251I|PPIL2_ENST00000398831.3_Missense_Mutation_p.T251I|PPIL2_ENST00000412327.1_Missense_Mutation_p.T251I Q13356 PPIL2_HUMAN peptidylprolyl isomerase (cyclophilin)-like 2 251 blood coagulation|leukocyte migration|protein folding|protein polyubiquitination Golgi lumen|nucleus|ubiquitin ligase complex peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 17 Colorectal(54;0.105) GCTTCCTTCACCTCCACCGCG 0.617000 48 54 0 0 1 0 0 AK5 26289 broad.mit.edu 37 1 77759609 77759609 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:77759609C>T ENST00000344720.5 + 3 1327 c.301C>T c.(301-303)Cct>Tct p.P101S AK5_ENST00000317704.4_3'UTR|AK5_ENST00000354567.2_Missense_Mutation_p.P127S NM_012093.3 NP_036225.2 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 127 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1) 40 GGTTTTTGATCCTACCAGACC 0.413000 46 16 0 0 1 0 0 LARP4 113251 broad.mit.edu 37 12 50854977 50854977 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:50854977C>T ENST00000398473.2 + 11 1293 c.1181C>T c.(1180-1182)tCc>tTc p.S394F LARP4_ENST00000429001.3_Missense_Mutation_p.S400F|LARP4_ENST00000518561.1_Missense_Mutation_p.S324F|LARP4_ENST00000522085.1_Missense_Mutation_p.S394F|LARP4_ENST00000293618.8_Intron|LARP4_ENST00000518444.1_Missense_Mutation_p.S393F|LARP4_ENST00000347328.5_Missense_Mutation_p.S323F NM_052879.4|NM_199188.2 NP_443111.4|NP_954658.2 Q71RC2 LARP4_HUMAN La ribonucleoprotein domain family, member 4 394 nucleotide binding|RNA binding breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 23 GGCTCTGTATCCTTGGGGGAT 0.438000 28 72 0 0 1 0 0 ZNF700 90592 broad.mit.edu 37 19 12060846 12060846 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:12060846G>A ENST00000482090.1 + 3 2371 c.1953G>A c.(1951-1953)aaG>aaA p.K651K ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Silent_p.K669K|CTD-2006C1.12_ENST00000586394.1_RNA Q9H0M5 ZN700_HUMAN zinc finger protein 700 669 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ZNF700/MAST1_ENST00000251472(2) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 33 ATGAAAGGAAGCACAGAGGAG 0.393000 19 8 0 0 1 0 0 FUS 2521 broad.mit.edu 37 16 31202348 31202348 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:31202348C>T ENST00000254108.7 + 14 1563 c.1458C>T c.(1456-1458)ggC>ggT p.G486G FUS_ENST00000380244.3_Silent_p.G485G|FUS_ENST00000568685.1_Silent_p.G487G|FUS_ENST00000474990.1_3'UTR NM_001170634.1|NM_001170937.1|NM_004960.3 NP_001164105.1|NP_001164408.1|NP_004951.1 P35637 FUS_HUMAN fused in sarcoma 486 Arg/Gly-rich. cell death|nuclear mRNA splicing, via spliceosome nucleoplasm DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158) breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1) 22 Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121) GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209) GCTACCGGGGCCGCGGCGGGG 0.587000 T """DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1""" """liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma""" 29 45 0 0 1 0 0 OR52E6 390078 broad.mit.edu 37 11 5862813 5862813 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:5862813G>A ENST00000329322.5 - 1 314 c.315C>T c.(313-315)ttC>ttT p.F105F TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Silent_p.F109F NM_001005167.1 NP_001005167.1 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, member 6 105 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGAAATGGATGAAGAACATCT 0.458000 29 87 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178409975 178409975 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:178409975G>A ENST00000231188.5 - 9 2550 c.2372C>T c.(2371-2373)aCc>aTc p.T791I GRM6_ENST00000517717.1_Missense_Mutation_p.T791I|RP11-281O15.4_ENST00000519491.1_RNA NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 791 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) GATGCAGGTGGTGTACATGGT 0.587000 23 10 0 0 1 0 0 MMP2 4313 broad.mit.edu 37 16 55518029 55518029 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:55518029G>A ENST00000219070.4 + 3 991 c.482G>A c.(481-483)cGa>cAa p.R161Q MMP2_ENST00000543485.1_Missense_Mutation_p.R85Q|MMP2_ENST00000437642.2_Missense_Mutation_p.R111Q|MMP2_ENST00000570308.1_Missense_Mutation_p.R85Q NM_004530.4 NP_004521.1 P08253 MMP2_HUMAN matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) 161 Collagenase-like 1. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding p.R161Q(2) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) CGGTTTTCTCGAATCCATGAT 0.547000 18 29 0 0 1 0 0 SUMO3 6612 broad.mit.edu 37 21 46226920 46226920 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr21:46226920G>A ENST00000397898.3 - 4 390 c.308C>T c.(307-309)tCc>tTc p.S103F SUMO3_ENST00000332859.6_Silent_p.F86F|SUMO3_ENST00000411651.2_Silent_p.F124F|SUMO3_ENST00000479153.1_5'UTR P55854 SUMO3_HUMAN small ubiquitin-like modifier 3 0 protein sumoylation cytoplasm|kinetochore protein binding prostate(1) 1 Colorectal(79;0.058) TCTGCTGCTGGAACACGTCGA 0.602000 18 19 0 0 1 0 0 AGAP1 116987 broad.mit.edu 37 2 236877164 236877164 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:236877164C>T ENST00000409538.1 + 12 2674 c.2178C>T c.(2176-2178)ccC>ccT p.P726P AGAP1_ENST00000336665.5_Silent_p.P461P|AGAP1_ENST00000428334.2_Silent_p.P353P|AGAP1_ENST00000304032.7_Silent_p.P514P Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 514 Arf-GAP. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 CCACCAGCCCCAAGCTCGACC 0.562000 30 19 0 0 1 0 0 ATXN7L2 127002 broad.mit.edu 37 1 110033817 110033817 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:110033817C>T ENST00000369870.3 + 10 1647 c.1632C>T c.(1630-1632)tcC>tcT p.S544S ATXN7L2_ENST00000459635.1_3'UTR NM_153340.4 NP_699171.3 Q5T6C5 AT7L2_HUMAN ataxin 7-like 2 544 breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1) 17 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) CATCCCCGTCCTTCAGCAAGC 0.652000 15 55 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136562597 136562597 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:136562597C>T ENST00000264162.2 - 10 4214 c.4204G>A c.(4204-4206)Gga>Aga p.G1402R NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1402 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) ATGCTGAGTCCTTTGCCATCT 0.478000 35 24 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235973317 235973317 + Silent SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:235973317T>C ENST00000389794.3 - 5 975 c.801A>G c.(799-801)aaA>aaG p.K267K LYST_ENST00000389793.2_Silent_p.K267K|LYST_ENST00000536965.1_Silent_p.K267K Q99698 LYST_HUMAN lysosomal trafficking regulator 267 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) ACTTACAAACTTTTTCTAATA 0.388000 38 18 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103206843 103206843 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:103206843C>T ENST00000428762.1 - 33 4923 c.4764G>A c.(4762-4764)caG>caA p.Q1588Q RELN_ENST00000424685.2_Silent_p.Q1588Q|RELN_ENST00000343529.5_Silent_p.Q1588Q NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 1588 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CCAAAGCCCACTGGGCTGAAT 0.368000 21 21 0 0 1 0 0 SEZ6 124925 broad.mit.edu 37 17 27284389 27284389 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:27284389C>T ENST00000317338.12 - 12 2899 c.2471G>A c.(2470-2472)aGt>aAt p.S824N SEZ6_ENST00000360295.9_Missense_Mutation_p.S824N|SEZ6_ENST00000335960.6_Intron|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000442608.3_Missense_Mutation_p.S824N Q53EL9 SEZ6_HUMAN seizure related 6 homolog (mouse) 824 Sushi 4. integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 29 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) GGCCCGGTCACTCCACTTGGG 0.562000 104 38 0 0 1 0 0 GHDC 84514 broad.mit.edu 37 17 40343155 40343155 + Silent SNP G G A rs139408288 TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:40343155G>A ENST00000301671.8 - 5 1404 c.963C>T c.(961-963)atC>atT p.I321I GHDC_ENST00000414034.3_Silent_p.I321I|GHDC_ENST00000587427.1_Silent_p.I321I|GHDC_ENST00000436923.2_Silent_p.I321I|GHDC_ENST00000428494.2_Silent_p.I282I|GHDC_ENST00000593209.1_Silent_p.I321I Q8N2G8 GHDC_HUMAN GH3 domain containing 321 endoplasmic reticulum|nuclear envelope central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304) BRCA - Breast invasive adenocarcinoma(366;0.124) GGAGCAGCTCGATAAAGGGGG 0.632000 38 32 0 0 1 0 0 VPS45 11311 broad.mit.edu 37 1 150117030 150117030 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:150117030C>T ENST00000369128.5 + 14 1788 c.1548C>T c.(1546-1548)tcC>tcT p.S516S VPS45_ENST00000369130.3_3'UTR|VPS45_ENST00000484306.1_3'UTR Q9NRW7 VPS45_HUMAN vacuolar protein sorting 45 homolog (S. cerevisiae) 409 blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis endosome membrane|Golgi membrane|integral to membrane of membrane fraction breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) ACAGGTTTTCCCTACTAAACA 0.517000 15 3 0 0 1 0 0 LILRB5 10990 broad.mit.edu 37 19 54754973 54754973 + Missense_Mutation SNP T T A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:54754973T>A ENST00000450632.1 - 13 1739 c.1662A>T c.(1660-1662)agA>agT p.R554S LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 561 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTCTCCTAGGTCTGGAGTGTT 0.577000 3 20 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110510903 110510903 + Silent SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:110510903T>C ENST00000378402.5 + 67 10835 c.10731T>C c.(10729-10731)tgT>tgC p.C3577C NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3577 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GTGGGATTTGTTGGCCTACCT 0.398000 HNSCC(38;0.096) 10 21 0 0 1 0 0 MDC1 9656 broad.mit.edu 37 6 30670975 30670975 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:30670975G>A ENST00000376406.3 - 12 6418 c.5771C>T c.(5770-5772)tCc>tTc p.S1924F MDC1_ENST00000376405.2_Missense_Mutation_p.S1660F|MDC1-AS1_ENST00000442150.1_RNA NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1924 BRCT 1.|Required for nuclear localization (NLS2). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 GACCAGGTGGGAAGCCTCTGC 0.632000 Other conserved DNA damage response genes 16 49 0 0 1 0 0 UGT1A9 54600 broad.mit.edu 37 2 234581115 234581115 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:234581115G>A ENST00000354728.4 + 1 617 c.535G>A c.(535-537)Gaa>Aaa p.E179K UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron NM_021027.2 NP_066307.1 breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 37 Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128) Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757) CTATCTTGAAGAAGGTGCACA 0.473000 133 59 0 0 1 0 0 ASL 435 broad.mit.edu 37 7 65557595 65557595 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:65557595G>A ENST00000304874.9 + 16 1297 c.1195G>A c.(1195-1197)Gag>Aag p.E399K ASL_ENST00000464970.1_3'UTR|ASL_ENST00000395332.3_Missense_Mutation_p.E399K|ASL_ENST00000380839.4_Missense_Mutation_p.E373K|AC068533.7_ENST00000450043.1_Missense_Mutation_p.R167Q|ASL_ENST00000395331.3_Missense_Mutation_p.E379K NM_000048.3 NP_000039.2 P04424 ARLY_HUMAN argininosuccinate lyase 399 arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle cytosol argininosuccinate lyase activity breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1) 18 L-Arginine(DB00125) GTTCATGGCCGAGACCAAGGG 0.637000 56 47 0 0 1 0 0 SGSM1 129049 broad.mit.edu 37 22 25294056 25294056 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:25294056C>T ENST00000400358.4 + 19 2197 c.2140C>T c.(2140-2142)Cat>Tat p.H714Y SGSM1_ENST00000400359.4_Missense_Mutation_p.H769Y NM_001098497.1|NM_001098498.1 NP_001091967.1|NP_001091968.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 769 Rab-GAP TBC. Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 AGACTCGGGTCATCCTTCCTC 0.582000 26 21 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43905652 43905652 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:43905652C>T ENST00000562955.1 + 50 6972 c.6972C>T c.(6970-6972)gcC>gcT p.A2324A SZT2_ENST00000372442.1_Silent_p.A1482A NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2381 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 CTCGCCAGGCCCTGGCCGATG 0.572000 35 56 0 0 1 0 0 DHX32 55760 broad.mit.edu 37 10 127569356 127569356 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:127569356G>A ENST00000284690.3 - 1 528 c.38C>T c.(37-39)tCt>tTt p.S13F DHX32_ENST00000284688.6_Missense_Mutation_p.S13F NM_018180.2 NP_060650.2 Q7L7V1 DHX32_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 32 13 mitochondrion|nucleus ATP binding|helicase activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1) 29 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) GCGTTTTTCAGAGGAAGAGTT 0.478000 65 16 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117710693 117710693 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:117710693C>T ENST00000368508.3 - 12 1777 c.1579G>A c.(1579-1581)Gaa>Aaa p.E527K GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.E536K NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 527 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) ACGATGAATTCATTAAAAGAC 0.448000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 28 27 0 0 1 0 0 ZSWIM8 23053 broad.mit.edu 37 10 75553423 75553423 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:75553423C>T ENST00000604729.1 + 11 2688 c.2391C>T c.(2389-2391)gcC>gcT p.A797A ZSWIM8_ENST00000605216.1_Silent_p.A797A|ZSWIM8_ENST00000398706.2_Silent_p.A797A|ZSWIM8_ENST00000604524.1_Silent_p.A797A|ZSWIM8_ENST00000603114.1_Silent_p.A764A|ZSWIM8_ENST00000431225.1_3'UTR zinc finger, SWIM-type containing 8 TGGAGCTTGCCCAGGATCTGC 0.622000 50 13 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79326090 79326090 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:79326090G>A ENST00000428286.1 - 8 1223 c.23C>T c.(22-24)tCc>tTc p.S8F PRUNE2_ENST00000376718.3_Missense_Mutation_p.S367F Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 367 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TTCTGTTGAGGATGTCCGGCT 0.532000 20 4 0 0 1 0 0 UGT2B17 7367 broad.mit.edu 37 4 69403501 69403501 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:69403501C>T ENST00000317746.2 - 6 1477 c.1435G>A c.(1435-1437)Gtc>Atc p.V479I NM_001077.3 NP_001068.1 O75795 UDB17_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B17 479 steroid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30 TGGGCTGCGACCCGAAGGTGC 0.483000 29 89 0 0 1 0 0 CHAMP1 283489 broad.mit.edu 37 13 115090371 115090371 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr13:115090371C>T ENST00000361283.1 + 3 1363 c.1054C>T c.(1054-1056)Cct>Tct p.P352S NM_001164144.1|NM_001164145.1|NM_032436.2 NP_001157616.1|NP_001157617.1|NP_115812.1 Q96JM3 ZN828_HUMAN chromosome alignment maintaining phosphoprotein 1 352 Mediates interaction with MAD2L2.|Pro-rich. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding GAAACCAATTCCTTCTGTATC 0.517000 34 53 0 0 1 0 0 SMIM8 57150 broad.mit.edu 37 6 88049888 88049888 + Missense_Mutation SNP A A T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:88049888A>T ENST00000392863.1 + 4 279 c.190A>T c.(190-192)Att>Ttt p.I64F SMIM8_ENST00000229570.5_Missense_Mutation_p.I64F NM_001042493.1 NP_001035958.1 small integral membrane protein 8 CGTGGCATATATTGGTTATCT 0.353000 6 35 0 0 1 0 0 FAM214A 56204 broad.mit.edu 37 15 52902542 52902542 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr15:52902542G>A ENST00000261844.7 - 6 721 c.569C>T c.(568-570)tCa>tTa p.S190L FAM214A_ENST00000546305.2_Missense_Mutation_p.S197L NM_019600.2 NP_062546.2 Q32MH5 K1370_HUMAN family with sequence similarity 214, member A 190 TGGAGTCTGTGAAAAATTCCA 0.368000 43 9 0 0 1 0 0 FABP12 646486 broad.mit.edu 37 8 82439279 82439279 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:82439279C>T ENST00000360464.4 - 3 386 c.324G>A c.(322-324)aaG>aaA p.K108K RP11-257P3.3_ENST00000523380.1_RNA NM_001105281.1 NP_001098751.1 A6NFH5 FBP12_HUMAN fatty acid binding protein 12 108 lipid binding|transporter activity large_intestine(1)|lung(3) 4 CATCCACCAGCTTTCTCGTTA 0.408000 9 8 0 0 1 0 0 OR12D3 81797 broad.mit.edu 37 6 29342287 29342287 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:29342287G>A ENST00000396806.3 - 1 781 c.778C>T c.(778-780)Cgt>Tgt p.R260C OR5V1_ENST00000377154.1_Intron NM_030959.2 NP_112221.1 Q9UGF7 O12D3_HUMAN olfactory receptor, family 12, subfamily D, member 3 260 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3) 23 GAAGCAGGACGAATATATGTG 0.488000 53 26 0 0 1 0 0 KCNK17 89822 broad.mit.edu 37 6 39267425 39267425 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:39267425G>A ENST00000373231.4 - 5 1009 c.777C>T c.(775-777)atC>atT p.I259I KCNK17_ENST00000453413.2_3'UTR NM_031460.3 NP_113648.2 Q96T54 KCNKH_HUMAN potassium channel, subfamily K, member 17 259 integral to membrane potassium channel activity|voltage-gated ion channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2) 14 TGAGTTTGATGATCAAGGCCA 0.557000 18 110 0 0 1 0 0 TSHB 7252 broad.mit.edu 37 1 115576082 115576082 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:115576082G>A ENST00000256592.1 + 2 167 c.99G>A c.(97-99)agG>agA p.R33R TSHB_ENST00000369517.1_Silent_p.R33R NM_000549.3|NM_001277991.1 NP_000540.2|NP_001264920.1 P01222 TSHB_HUMAN thyroid stimulating hormone, beta 33 anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing extracellular region hormone activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 Lung SC(450;0.211) all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) ACATCGAAAGGAGAGAGTGTG 0.423000 83 40 0 0 1 0 0 OR52B4 143496 broad.mit.edu 37 11 4389234 4389234 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:4389234G>A ENST00000408920.2 - 1 382 c.292C>T c.(292-294)Cgt>Tgt p.R98C NM_001005161.3 NP_001005161.2 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, member 4 98 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2) 31 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) GTGATGCAACGATCCAGGGAG 0.527000 8 21 0 0 1 0 0 ZNF254 9534 broad.mit.edu 37 19 24310674 24310674 + Missense_Mutation SNP T T A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:24310674T>A ENST00000357002.4 + 4 1987 c.1872T>A c.(1870-1872)caT>caA p.H624Q ZNF254_ENST00000342944.6_Missense_Mutation_p.H539Q 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 254 624 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) AGAGAATTCATACTGGAGAGC 0.388000 20 42 0 0 1 0 0 SLC29A2 3177 broad.mit.edu 37 11 66131733 66131733 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:66131733C>T ENST00000357440.2 - 11 1450 c.1222G>A c.(1222-1224)Ggc>Agc p.G408S RP11-867G23.8_ENST00000580881.1_Intron|SLC29A2_ENST00000546034.1_Missense_Mutation_p.G408S|SLC29A2_ENST00000544554.1_Missense_Mutation_p.G408S|SLC29A2_ENST00000311161.7_3'UTR NM_001532.2 NP_001523.2 Q14542 S29A2_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 2 408 cell proliferation|nucleobase, nucleoside and nucleotide metabolic process basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus nucleoside transmembrane transporter activity breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 ACCAGGTAGCCATTAGAAACG 0.617000 OREG0021103 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 7 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38771051 38771051 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:38771051G>A ENST00000359357.3 + 20 2601 c.2347G>A c.(2347-2349)Gaa>Aaa p.E783K DNAH8_ENST00000449981.2_Missense_Mutation_p.E1000K|DNAH8_ENST00000441566.1_Missense_Mutation_p.E783K dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GCAGATTTATGAAGTGAAATA 0.358000 8 36 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1559294 1559294 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:1559294G>A ENST00000381605.4 - 2 187 c.123C>T c.(121-123)tcC>tcT p.S41S SIRPB1_ENST00000262929.5_Silent_p.S40S|RP4-576H24.4_ENST00000564763.1_Silent_p.S41S|SIRPB1_ENST00000381603.3_Silent_p.S41S NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 41 Ig-like V-type. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CAACTGATACGGACTTTTCAG 0.542000 70 59 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 129558525 129558525 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:129558525G>A ENST00000422113.2 - 9 3521 c.3195C>T c.(3193-3195)atC>atT p.I1065I TMEM132D_ENST00000389441.4_Silent_p.I603I NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 1065 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TACTCATCACGATGGAGTTCC 0.517000 34 32 0 0 1 0 0 ABCA1 19 broad.mit.edu 37 9 107624034 107624034 + Missense_Mutation SNP A A G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:107624034A>G ENST00000374736.3 - 6 863 c.469T>C c.(469-471)Ttc>Ctc p.F157L ABCA1_ENST00000374733.1_Missense_Mutation_p.F97L|ABCA1_ENST00000423487.2_Missense_Mutation_p.F157L NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 157 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TGATACAGGAACCCAGAGAAG 0.398000 35 20 0 0 1 0 0 ARHGEF26 26084 broad.mit.edu 37 3 153840443 153840443 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:153840443C>T ENST00000356448.4 + 2 946 c.662C>T c.(661-663)cCc>cTc p.P221L ARHGEF26_ENST00000465093.1_Missense_Mutation_p.P221L|ARHGEF26_ENST00000465817.1_Missense_Mutation_p.P221L NM_001251962.1 NP_001238891.1 Q96DR7 ARHGQ_HUMAN Rho guanine nucleotide exchange factor (GEF) 26 221 regulation of Rho protein signal transduction intracellular|ruffle Rho guanyl-nucleotide exchange factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 23 CAAAGGCTGCCCTCCCAGGAG 0.587000 18 15 0 0 1 0 0 DARS 1615 broad.mit.edu 37 2 136700969 136700969 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:136700969G>A ENST00000264161.4 - 5 617 c.402C>T c.(400-402)gaC>gaT p.D134D DARS_ENST00000537273.1_Silent_p.D34D|DARS_ENST00000463008.1_5'UTR NM_001349.2 NP_001340.2 P14868 SYDC_HUMAN aspartyl-tRNA synthetase 134 aspartyl-tRNA aminoacylation|protein complex assembly cytosol|nuclear membrane|plasma membrane|soluble fraction aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2) 15 BRCA - Breast invasive adenocarcinoma(221;0.168) L-Aspartic Acid(DB00128) GTAACTCAACGTCTTGCTGTG 0.323000 79 30 0 0 1 0 0 HMGB1P5 10354 broad.mit.edu 37 3 22424107 22424107 + RNA SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:22424107G>A ENST00000451497.1 + 0 672 ACACACTACCGAATGTGTCTT 0.348000 6 3 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28992914 28992914 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr18:28992914G>A ENST00000359747.4 + 15 2565 c.2536G>A c.(2536-2538)Gac>Aac p.D846N RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.D827N NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 827 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GATTGTGGATGACTTAGATGA 0.453000 43 55 0 0 1 0 0 COL15A1 1306 broad.mit.edu 37 9 101765855 101765855 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:101765855G>A ENST00000375001.3 + 8 1609 c.1186G>A c.(1186-1188)Gaa>Aaa p.E396K NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 396 4 X tandem repeats.|Nonhelical region 1 (NC1). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) GAACCCAGAGGAAGGGGTCAC 0.617000 13 32 0 0 1 0 0 DPPA3P2 400206 broad.mit.edu 37 14 36841045 36841045 + RNA SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:36841045C>T ENST00000557188.1 + 0 676 TGGATGGGATCCTTCTGAGAA 0.398000 60 45 0 0 1 0 0 BCL6 604 broad.mit.edu 37 3 187444628 187444628 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:187444628G>A ENST00000406870.2 - 7 1965 c.1599C>T c.(1597-1599)ctC>ctT p.L533L RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Silent_p.L533L|BCL6_ENST00000450123.2_Intron|RP11-211G3.3_ENST00000449623.1_Intron NM_001706.4 NP_001697.2 P41182 BCL6_HUMAN B-cell CLL/lymphoma 6 533 negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 40 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) TGTGCCTCTTGAGTGAGGCCT 0.597000 """T, Mis""" """IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R, POU2AF1, ARHH, EIF4A2, SFRS3""" """NHL, CLL""" 16 42 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103461554 103461554 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:103461554C>T ENST00000358392.2 - 27 2639 c.2322G>A c.(2320-2322)cgG>cgA p.R774R COL11A1_ENST00000353414.4_Silent_p.R723R|COL11A1_ENST00000512756.1_Silent_p.R646R|COL11A1_ENST00000370096.3_Silent_p.R762R NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 762 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) CCTTTACTCCCCGGGGGCCCG 0.383000 64 24 0 0 1 0 0 SIGLEC6 946 broad.mit.edu 37 19 52034617 52034617 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:52034617G>A ENST00000346477.3 - 2 292 c.224C>T c.(223-225)cCa>cTa p.P75L SIGLEC6_ENST00000425629.3_Missense_Mutation_p.P75L|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.P75L|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.P75L|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.P39L|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.P75L NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 75 Ig-like V-type. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) TGTGGCCACTGGAACATCAGC 0.587000 33 25 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179616450 179616450 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:179616450G>A ENST00000360870.5 - 46 10899 c.10677C>T c.(10675-10677)caC>caT p.H3559H TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 3558 Ig-like 21. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AAGAGTGATGGTGTAAATCAC 0.413000 26 83 0 0 1 0 0 CD320 51293 broad.mit.edu 37 19 8367350 8367350 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:8367350G>A ENST00000301458.5 - 5 910 c.846C>T c.(844-846)ccC>ccT p.P282P CD320_ENST00000537716.2_Silent_p.P240P NM_016579.3 NP_057663.1 Q9NPF0 CD320_HUMAN CD320 molecule 282 regulation of cell growth endoplasmic reticulum|integral to membrane growth factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2) 6 CTTGTCCTCAGGGCAGCGAGG 0.642000 15 60 0 0 1 0 0 DUS2 54920 broad.mit.edu 37 16 68109264 68109264 + Silent SNP C C A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:68109264C>A ENST00000565263.1 + 14 1433 c.939C>A c.(937-939)gcC>gcA p.A313A DUS2L_ENST00000432752.1_Silent_p.A278A|DUS2L_ENST00000358896.6_Silent_p.A313A NM_017803.3 NP_060273.1 Q9NX74 DUS2L_HUMAN 313 tRNA processing endoplasmic reticulum double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564) CTAGTGAGGCCTTTGGCCTTG 0.592000 15 24 2.31682e-05 2.33113e-05 1 1 0 FAM81B 153643 broad.mit.edu 37 5 94727108 94727108 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:94727108C>T ENST00000283357.5 + 1 61 c.15C>T c.(13-15)ttC>ttT p.F5F NM_152548.2 NP_689761.2 Q96LP2 FA81B_HUMAN family with sequence similarity 81, member B 5 p.F5F(1) central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473) all cancers(79;1.04e-16) AATTACAATTCCTTGGTACAT 0.378000 26 6 0 0 1 0 0 TCF7L1 83439 broad.mit.edu 37 2 85510672 85510672 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:85510672G>A ENST00000282111.3 + 4 771 c.496G>A c.(496-498)Gac>Aac p.D166N NM_031283.2 NP_112573.1 Q9HCS4 TF7L1_HUMAN transcription factor 7-like 1 (T-cell specific, HMG-box) 166 Pro-rich. chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1) 18 CACAGTCAAGGACACGAGGTC 0.532000 23 152 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100392956 100392956 + RNA SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:100392956C>T ENST00000542585.1 + 0 8474 ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CCCAGAAAGCCAGGTGAGGGC 0.532000 5 11 0 0 1 0 0 GPR123 84435 broad.mit.edu 37 10 134885485 134885485 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:134885485G>A ENST00000607359.1 + 2 244 c.244G>A c.(244-246)Gag>Aag p.E82K Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 0 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) GGCCGAGGGCGAGCCCTCATG 0.642000 8 3 0 0 1 0 0 GYPB 2994 broad.mit.edu 37 4 144922398 144922398 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:144922398C>T ENST00000283126.7 - 2 131 c.76G>A c.(76-78)Gca>Aca p.A26T GYPB_ENST00000502664.1_Missense_Mutation_p.A26T|GYPB_ENST00000429670.2_Missense_Mutation_p.A26T|GYPB_ENST00000510196.2_5'UTR|GYPB_ENST00000513128.1_Intron|RP11-673E1.4_ENST00000506982.1_RNA glycophorin B (MNS blood group) breast(1)|large_intestine(2)|skin(1) 4 all_hematologic(180;0.158) GTGTGCATTGCCACCTCAGTG 0.368000 16 79 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92761354 92761354 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:92761354C>T ENST00000318238.4 - 5 5147 c.3931G>A c.(3931-3933)Gat>Aat p.D1311N SAMD9L_ENST00000411955.1_Missense_Mutation_p.D1311N|SAMD9L_ENST00000437805.1_Missense_Mutation_p.D1311N NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1311 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) AGACATGGATCCAAATGACAG 0.378000 11 37 0 0 1 0 0 C19orf18 147685 broad.mit.edu 37 19 58485728 58485728 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:58485728G>A ENST00000314391.3 - 1 174 c.73C>T c.(73-75)Ccg>Tcg p.P25S NM_152474.4 NP_689687.1 Q8NEA5 CS018_HUMAN chromosome 19 open reading frame 18 25 integral to membrane large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 8 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017) TCTGCATACGGCAAGCATAAA 0.398000 40 24 0 0 1 0 0 CNN1 1264 broad.mit.edu 37 19 11658686 11658686 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:11658686G>A ENST00000592923.1 + 6 892 c.315G>A c.(313-315)ggG>ggA p.G105G CNN1_ENST00000535659.2_Silent_p.G105G|CNN1_ENST00000544952.1_Silent_p.G135G|CNN1_ENST00000252456.2_Silent_p.G155G P51911 CNN1_HUMAN calponin 1, basic, smooth muscle 155 CH. actomyosin structure organization|regulation of smooth muscle contraction cytoskeleton actin binding|calmodulin binding breast(1)|endometrium(2)|large_intestine(4)|lung(2) 9 TCGAGCCGGGGAAGCTAAGAG 0.587000 15 19 0 0 1 0 0 VRTN 55237 broad.mit.edu 37 14 74824785 74824785 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:74824785G>A ENST00000256362.4 + 2 1540 c.1299G>A c.(1297-1299)cgG>cgA p.R433R NM_018228.2 NP_060698.2 Q9H8Y1 VRTN_HUMAN vertebrae development associated 433 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 GCATCTCACGGTCCACTTATT 0.572000 45 34 0 0 1 0 0 OR4M2 390538 broad.mit.edu 37 15 22369074 22369074 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr15:22369074C>T ENST00000332663.2 + 1 597 c.499C>T c.(499-501)Cct>Tct p.P167S RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P167A(1) NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TGTTCGACTTCCTTTCTGTGG 0.493000 74 25 0 0 1 0 0 OSTM1 28962 broad.mit.edu 37 6 108395683 108395683 + Missense_Mutation SNP A A G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:108395683A>G ENST00000193322.3 - 1 258 c.173T>C c.(172-174)tTg>tCg p.L58S NM_014028.3 NP_054747.2 Q86WC4 OSTM1_HUMAN osteopetrosis associated transmembrane protein 1 58 integral to membrane central_nervous_system(2)|endometrium(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 8 all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938) BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581) GGACAGGGACAAGTCCTCCAC 0.692000 4 1 0 0 1 0 0 MGRN1 23295 broad.mit.edu 37 16 4731625 4731625 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:4731625C>T ENST00000399577.5 + 13 1299 c.1206C>T c.(1204-1206)tcC>tcT p.S402S MGRN1_ENST00000588994.1_Silent_p.S380S|MGRN1_ENST00000586183.1_Silent_p.S380S|MGRN1_ENST00000262370.7_Silent_p.S402S|MGRN1_ENST00000415496.1_Silent_p.S381S NM_001142290.2 NP_001135762.1 O60291 MGRN1_HUMAN mahogunin ring finger 1, E3 ubiquitin protein ligase 402 endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination cytosol|early endosome|nucleus|plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 GGGCTGTCTCCCCGGCCATCC 0.647000 32 42 0 0 1 0 0 DEPDC5 9681 broad.mit.edu 37 22 32215149 32215149 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:32215149C>T ENST00000400246.1 + 22 1950 c.1808C>T c.(1807-1809)cCc>cTc p.P603L DEPDC5_ENST00000536766.1_Missense_Mutation_p.P575L|DEPDC5_ENST00000266091.3_Missense_Mutation_p.P603L|DEPDC5_ENST00000400249.2_Missense_Mutation_p.P603L|DEPDC5_ENST00000382112.3_Missense_Mutation_p.P603L|DEPDC5_ENST00000535622.1_Missense_Mutation_p.P603L|DEPDC5_ENST00000382111.2_Missense_Mutation_p.P603L|DEPDC5_ENST00000400248.1_Missense_Mutation_p.P603L|DEPDC5_ENST00000382105.2_Missense_Mutation_p.P603L O75140 DEPD5_HUMAN DEP domain containing 5 603 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 CCCTTCGCTCCCTCTCGGATG 0.542000 56 86 0 0 1 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41751801 41751801 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:41751801G>A ENST00000352645.4 + 19 2466 c.2209G>A c.(2209-2211)Gcc>Acc p.A737T ZC3H7B_ENST00000351589.4_Missense_Mutation_p.A737T NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 753 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 GATGTCCAAGGCCAAGAGGAA 0.617000 9 18 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62453097 62453097 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:62453097C>T ENST00000512091.1 + 4 955 c.208C>T c.(208-210)Cct>Tct p.P70S LPHN3_ENST00000514996.1_Missense_Mutation_p.P70S|LPHN3_ENST00000506700.1_Missense_Mutation_p.P70S|LPHN3_ENST00000514591.1_Missense_Mutation_p.P70S|LPHN3_ENST00000514157.1_Missense_Mutation_p.P70S|LPHN3_ENST00000511324.1_Missense_Mutation_p.P138S|LPHN3_ENST00000507164.1_Missense_Mutation_p.P138S|LPHN3_ENST00000506720.1_Missense_Mutation_p.P138S|LPHN3_ENST00000506746.1_Missense_Mutation_p.P138S|LPHN3_ENST00000545650.1_Missense_Mutation_p.P70S|LPHN3_ENST00000508693.1_Missense_Mutation_p.P138S|LPHN3_ENST00000509896.1_Missense_Mutation_p.P138S|LPHN3_ENST00000504896.1_Missense_Mutation_p.P70S|LPHN3_ENST00000507625.1_Missense_Mutation_p.P138S|LPHN3_ENST00000508946.1_Missense_Mutation_p.P70S Q9HAR2 LPHN3_HUMAN latrophilin 3 70 SUEL-type lectin. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding 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 TGACTCTGACCCTGCTCAGAT 0.403000 6 21 0 0 1 0 0 OLFM2 93145 broad.mit.edu 37 19 9968508 9968508 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:9968508G>A ENST00000264833.4 - 3 428 c.243C>T c.(241-243)gtC>gtT p.V81V OLFM2_ENST00000590841.1_Silent_p.V3V NM_058164.2 NP_477512.1 O95897 NOE2_HUMAN olfactomedin 2 81 extracellular region breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 31 GCAACTCAAGGACCTCCATGG 0.602000 8 35 0 0 1 0 0 PPIH 10465 broad.mit.edu 37 1 43130609 43130609 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:43130609C>T ENST00000455203.2 + 4 618 c.190C>T c.(190-192)Cca>Tca p.P64S PPIH_ENST00000304979.3_Missense_Mutation_p.P107S|PPIH_ENST00000372550.1_Missense_Mutation_p.P64S O43447 PPIH_HUMAN peptidylprolyl isomerase H (cyclophilin H) 107 PPIase cyclophilin-type. protein complex assembly|protein folding cytoplasm|nuclear speck|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|ribonucleoprotein binding endometrium(1)|large_intestine(1)|lung(2) 4 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) L-Proline(DB00172) ACACTCAGCTCCAGGCCTGCT 0.502000 31 16 0 0 1 0 0 PKNOX2 63876 broad.mit.edu 37 11 125267885 125267885 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:125267885G>A ENST00000298282.9 + 7 786 c.515G>A c.(514-516)aGc>aAc p.S172N PKNOX2_ENST00000542175.1_Missense_Mutation_p.S108N|PKNOX2_ENST00000530517.1_3'UTR NM_022062.2 NP_071345.2 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 172 nucleus sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 29 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) AAGATGCACAGCGACAACCTG 0.537000 16 47 0 0 1 0 0 GLMN 11146 broad.mit.edu 37 1 92712635 92712635 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:92712635G>A ENST00000370360.3 - 18 1733 c.1652C>T c.(1651-1653)cCt>cTt p.P551L GLMN_ENST00000534881.1_Missense_Mutation_p.P537L NM_053274.2 NP_444504.1 Q92990 GLMN_HUMAN glomulin, FKBP associated protein 551 muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis intracellular hepatocyte growth factor receptor binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 17 all_lung(203;0.00827)|Lung NSC(277;0.0295) all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989) CTGCATTTCAGGAGGCATATT 0.393000 Multiple Glomus Tumors (of the Skin), Familial 112 39 0 0 1 0 0 OR4C13 283092 broad.mit.edu 37 11 49974850 49974850 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:49974850G>A ENST00000555099.1 + 1 908 c.876G>A c.(874-876)atG>atA p.M292I NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 ATGCTCAAATGAAAAATGCCA 0.383000 32 27 0 0 1 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17698588 17698588 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:17698588C>T ENST00000399080.2 - 1 1118 c.1095G>A c.(1093-1095)aaG>aaA p.K365K NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 365 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TAGCGAAATTCTTTCTAGAGT 0.388000 11 66 0 0 1 0 0 CASKIN1 57524 broad.mit.edu 37 16 2235405 2235405 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:2235405G>A ENST00000343516.6 - 11 1145 c.1053C>T c.(1051-1053)tcC>tcT p.S351S NM_020764.3 NP_065815.1 Q8WXD9 CSKI1_HUMAN CASK interacting protein 1 351 signal transduction cytoplasm breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3) 28 TGCCTGCTCGGGAACCTGTGG 0.642000 16 13 0 0 1 0 0 TNIK 23043 broad.mit.edu 37 3 170858197 170858197 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:170858197C>T ENST00000436636.2 - 13 1667 c.1323G>A c.(1321-1323)gaG>gaA p.E441E TNIK_ENST00000284483.8_Silent_p.E441E|TNIK_ENST00000488470.1_Silent_p.E441E|TNIK_ENST00000341852.6_Silent_p.E441E|TNIK_ENST00000369326.5_Silent_p.E441E|TNIK_ENST00000475336.1_Silent_p.E441E|TNIK_ENST00000460047.1_Silent_p.E441E|TNIK_ENST00000357327.5_Silent_p.E441E|TNIK_ENST00000470834.1_Silent_p.E441E|TNIK_ENST00000538048.1_Silent_p.E441E NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 441 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) CCTGTTCATGCTCCGCACGCC 0.642000 38 90 0 0 1 0 0 GPT2 84706 broad.mit.edu 37 16 46943618 46943618 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:46943618C>T ENST00000440783.2 + 6 964 c.299C>T c.(298-300)tCc>tTc p.S100F GPT2_ENST00000340124.4_Missense_Mutation_p.S200F NM_001142466.1 NP_001135938.1 Q8TD30 ALAT2_HUMAN glutamic pyruvate transaminase (alanine aminotransferase) 2 200 2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process mitochondrial matrix L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2) 23 all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) ATCCTCGTCTCCGGGGGCGGC 0.547000 27 22 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196834804 196834804 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:196834804C>T ENST00000312428.6 - 17 2173 c.2073G>A c.(2071-2073)cgG>cgA p.R691R NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 691 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CCTCCACAAACCGTTCACACC 0.328000 34 21 0 0 1 0 0 ASRGL1 80150 broad.mit.edu 37 11 62159752 62159752 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:62159752C>T ENST00000415229.2 + 7 1138 c.923C>T c.(922-924)cCc>cTc p.P308L CTD-2531D15.5_ENST00000526045.1_RNA|ASRGL1_ENST00000301776.5_Missense_Mutation_p.P308L NM_001083926.1 NP_001077395.1 Q7L266 ASGL1_HUMAN asparaginase like 1 308 asparagine catabolic process via L-aspartate|protein maturation cytoplasm|microtubule cytoskeleton|nucleus N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 7 L-Asparagine(DB00174)|L-Aspartic Acid(DB00128) ACCGACCTTCCCTAAGCCGCT 0.493000 9 24 0 0 1 0 0 RPRM 56475 broad.mit.edu 37 2 154334949 154334949 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:154334949C>T ENST00000325926.3 - 1 373 c.131G>A c.(130-132)gGa>gAa p.G44E AC012501.2_ENST00000424322.1_RNA NM_019845.2 NP_062819.1 Q9NS64 RPRM_HUMAN reprimo, TP53 dependent G2 arrest mediator candidate 44 cell cycle arrest cytoplasm|integral to membrane protein binding large_intestine(2)|lung(1)|prostate(1) 4 GTCCGGGCCTCCCTCCGCGAA 0.672000 15 50 0 0 1 0 0 PACS1 55690 broad.mit.edu 37 11 65978657 65978657 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:65978657G>A ENST00000320580.4 + 4 620 c.587G>A c.(586-588)aGg>aAg p.R196K NM_018026.3 NP_060496.2 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 196 Missing (in Ref. 2; BAC04831). interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding RBM14/PACS1(2) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1) 37 ATGCTGCAAAGGAGAAAACGT 0.493000 86 61 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 118949816 118949816 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:118949816G>A ENST00000328252.3 + 2 1168 c.799G>A c.(799-801)Gag>Aag p.E267K NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 267 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 GACTCAGCGGGAGATACTGTC 0.567000 18 67 0 0 1 0 0 LEPREL4 10609 broad.mit.edu 37 17 39966033 39966033 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:39966033G>A ENST00000355468.3 - 5 1307 c.841C>T c.(841-843)Ccc>Tcc p.P281S LEPREL4_ENST00000393928.1_Missense_Mutation_p.P281S Q92791 SC65_HUMAN leprecan-like 4 281 synaptonemal complex assembly nucleolus|synaptonemal complex binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1) 8 CCCACATTGGGGGTCAAATTG 0.557000 40 8 0 0 1 0 0 ITGAX 3687 broad.mit.edu 37 16 31383763 31383763 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:31383763C>T ENST00000268296.4 + 18 2346 c.2225C>T c.(2224-2226)cCc>cTc p.P742L ITGAX_ENST00000562522.1_Missense_Mutation_p.P742L NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 742 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 GTGGGCAAGCCCCTCCTTGCC 0.642000 40 58 0 0 1 0 0 SERPINB2 5055 broad.mit.edu 37 18 61564346 61564346 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr18:61564346C>T ENST00000457692.1 + 5 643 c.310C>T c.(310-312)Cat>Tat p.H104Y SERPINB2_ENST00000299502.4_Missense_Mutation_p.H104Y|SERPINB2_ENST00000482254.1_3'UTR NM_001143818.1 NP_001137290.1 P05120 PAI2_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 2 104 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) AGATAAAATCCATTCATCCTT 0.378000 19 44 0 0 1 0 0 IGLV1-47 28822 broad.mit.edu 37 22 22712439 22712439 + RNA SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:22712439G>A ENST00000390294.2 + 0 238 CAGCTCCCAGGAACGGCCCCC 0.572000 70 108 0 0 1 0 0 TNFRSF21 27242 broad.mit.edu 37 6 47253756 47253756 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:47253756G>A ENST00000296861.2 - 2 1065 c.672C>T c.(670-672)tcC>tcT p.S224S NM_014452.3 NP_055267.1 O75509 TNR21_HUMAN tumor necrosis factor receptor superfamily, member 21 224 cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2) 21 Lung(136;0.189) CTGTGCCAGGGGAAGGTGAGG 0.527000 3 35 0 0 1 0 0 MALSU1 115416 broad.mit.edu 37 7 23339025 23339025 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:23339025G>A ENST00000466681.1 + 1 207 c.54G>A c.(52-54)agG>agA p.R18R MALSU1_ENST00000479974.1_Intron NM_138446.1 NP_612455.1 Q96EH3 CG030_HUMAN mitochondrial assembly of ribosomal large subunit 1 18 mitochondrion TGTGGCGCAGGGCGGTTTCCT 0.721000 6 10 0 0 1 0 0 LRIG3 121227 broad.mit.edu 37 12 59266363 59266363 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:59266363C>T ENST00000320743.3 - 19 3637 c.3351G>A c.(3349-3351)ttG>ttA p.L1117L LRIG3_ENST00000379141.4_Silent_p.L1057L NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 1117 integral to membrane LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) TCTATGTGTCCAAGTCATAAG 0.323000 T ROS1 NSCLC 20 16 0 0 1 0 0 ZNF12 7559 broad.mit.edu 37 7 6731972 6731972 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:6731972G>A ENST00000405858.1 - 5 1142 c.601C>T c.(601-603)Cta>Tta p.L201L ZNF12_ENST00000342651.5_Silent_p.L163L|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Silent_p.L127L NM_006956.2|NM_016265.3 NP_008887.2|NP_057349.2 P17014 ZNF12_HUMAN zinc finger protein 12 201 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3) 16 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) TCTTCATTTAGAGTATAAGGT 0.338000 4 8 0 0 1 0 0 SOWAHD 347454 broad.mit.edu 37 X 118892654 118892654 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:118892654G>A ENST00000343905.3 + 1 79 c.24G>A c.(22-24)gcG>gcA p.A8A NM_001105576.2 NP_001099046.1 A6NJG2 ANR58_HUMAN sosondowah ankyrin repeat domain family member D 8 GAGGGGCCGCGAACCGGGCAC 0.731000 4 2 0 0 1 0 0 MPO 4353 broad.mit.edu 37 17 56349180 56349180 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:56349180C>T ENST00000340482.3 - 10 2138 c.1962G>A c.(1960-1962)agG>agA p.R654R MPO_ENST00000225275.3_Silent_p.R622R P05164 PERM_HUMAN myeloperoxidase 622 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 46 Cefdinir(DB00535) ATTTCAGGTTCCTCAGCACCG 0.612000 60 14 0 0 1 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2306447 2306447 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:2306447G>A ENST00000290974.2 - 8 1959 c.1620C>T c.(1618-1620)ccC>ccT p.P540P RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Silent_p.P470P|ZFYVE28_ENST00000511071.1_Silent_p.P510P NM_020972.2 NP_066023.2 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 540 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 CCTCGGCCACGGGCTCCGAGG 0.662000 11 34 0 0 1 0 0 POC1A 25886 broad.mit.edu 37 3 52185054 52185054 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:52185054G>A ENST00000394970.2 - 2 398 c.81C>T c.(79-81)ttC>ttT p.F27F POC1A_ENST00000474012.1_5'UTR|POC1A_ENST00000296484.2_Silent_p.F27F NM_001161580.1 NP_001155052.1 Q8NBT0 POC1A_HUMAN POC1 centriolar protein A 27 centriole|microtubule basal body endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1) 14 TGTTGATACTGAAGTCCACAC 0.537000 28 94 0 0 1 0 0 SWI5 375757 broad.mit.edu 37 9 131038442 131038442 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:131038442G>A ENST00000320188.4 + 1 18 c.18G>A c.(16-18)caG>caA p.Q6Q NM_001040011.1 NP_001035100.1 Q1ZZU3 SWI5_HUMAN SWI5 recombination repair homolog (yeast) 6 double-strand break repair via homologous recombination Swi5-Sfr1 complex protein binding GGCGTGGCCAGAGGGACCTGT 0.647000 32 82 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21230954 21230954 + Nonsense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:21230954C>T ENST00000233242.1 - 26 8913 c.8786G>A c.(8785-8787)tGg>tAg p.W2929* NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2929 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GGCCCATTTCCATGACCCTTT 0.483000 105 40 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103339406 103339406 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:103339406C>T ENST00000375735.2 + 88 12882 c.12738C>T c.(12736-12738)ctC>ctT p.L4246L DYNC2H1_ENST00000334267.7_Silent_p.L859L|DYNC2H1_ENST00000398093.3_Silent_p.L4253L NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 4246 cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) CATCAGTGCTCCCTTGTTTTA 0.368000 9 8 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110424524 110424524 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:110424524G>A ENST00000378402.5 + 20 2220 c.2116G>A c.(2116-2118)Gaa>Aaa p.E706K NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 706 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GAAGACAGCTGAAACCGATGC 0.398000 HNSCC(38;0.096) 11 21 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109379908 109379908 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr13:109379908G>A ENST00000356711.2 + 4 544 c.418G>A c.(418-420)Gat>Aat p.D140N MYO16_ENST00000357550.2_Missense_Mutation_p.D140N|MYO16_ENST00000251041.5_Missense_Mutation_p.D140N NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 140 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CGATAACCCTGATATTGTCCT 0.393000 14 54 0 0 1 0 0 PRKCQ 5588 broad.mit.edu 37 10 6553153 6553153 + Missense_Mutation SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:6553153T>C ENST00000263125.5 - 3 221 c.122A>G c.(121-123)aAc>aGc p.N41S PRKCQ_ENST00000539722.1_5'UTR|PRKCQ_ENST00000397176.2_Missense_Mutation_p.N41S NM_006257.3 NP_006248.1 Q04759 KPCT_HUMAN protein kinase C, theta 41 C2. axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 CATCTGCCCGTTCTCTAGGAA 0.463000 37 7 0 0 1 0 0 NOA1 84273 broad.mit.edu 37 4 57842672 57842672 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:57842672C>T ENST00000264230.4 - 1 2317 c.1080G>A c.(1078-1080)gaG>gaA p.E360E NM_032313.2 NP_115689.1 Q8NC60 CD014_HUMAN nitric oxide associated 1 360 GTP binding AGTAATCGGACTCCAGGAGCG 0.602000 21 20 0 0 1 0 0 FAM46A 55603 broad.mit.edu 37 6 82459715 82459715 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:82459715G>A ENST00000369754.3 - 3 1395 c.1083C>T c.(1081-1083)aaC>aaT p.N361N FAM46A_ENST00000320172.6_Silent_p.N342N|FAM46A_ENST00000369756.3_Silent_p.N423N Q96IP4 FA46A_HUMAN family with sequence similarity 46, member A 342 endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1) 12 all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104) BRCA - Breast invasive adenocarcinoma(397;0.0428) CCACAAAGTGGTTCTGCAAAT 0.443000 11 20 0 0 1 0 0 LTBP3 4054 broad.mit.edu 37 11 65321711 65321711 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:65321711G>A ENST00000301873.5 - 2 740 c.472C>T c.(472-474)Ctg>Ttg p.L158L LTBP3_ENST00000322147.4_Silent_p.L158L|LTBP3_ENST00000536982.1_Intron NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 158 Gly-rich. extracellular region calcium ion binding|growth factor binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 GTCCTGCTCAGGCCGGGGCCT 0.716000 4 14 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76563176 76563176 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:76563176G>A ENST00000389840.5 - 10 1481 c.1357C>T c.(1357-1359)Ctc>Ttc p.L453F DNAH17_ENST00000585328.1_Missense_Mutation_p.L453F dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AGGCTCCCGAGGAGGTTCCCA 0.498000 15 2 0 0 1 0 0 EVC2 132884 broad.mit.edu 37 4 5667300 5667300 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:5667300G>A ENST00000310917.2 - 8 1438 c.707C>T c.(706-708)gCc>gTc p.A236V EVC2_ENST00000344938.1_Missense_Mutation_p.A316V|EVC2_ENST00000344408.5_Missense_Mutation_p.A316V NM_001166136.1 NP_001159608.1 Q86UK5 LBN_HUMAN Ellis van Creveld syndrome 2 316 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 GAGGAAGAGGGCAGCCCAGGT 0.572000 17 20 0 0 1 0 0 ALOX12 239 broad.mit.edu 37 17 6905007 6905007 + Nonsense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:6905007G>A ENST00000251535.6 + 8 1091 c.1038G>A c.(1036-1038)tgG>tgA p.W346* AC027763.2_ENST00000575727.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000399540.2_3'UTR|AC027763.2_ENST00000574377.1_Intron NM_000697.2 NP_000688.2 P18054 LOX12_HUMAN arachidonate 12-lipoxygenase 346 Lipoxygenase. anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation cytosol|sarcolemma arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1) 19 CAAAGTCCTGGGTCCGAAATT 0.577000 140 16 0 0 1 0 0 CALML6 163688 broad.mit.edu 37 1 1848607 1848607 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:1848607G>A ENST00000307786.3 + 6 975 c.521G>A c.(520-522)gGg>gAg p.G174E NM_138705.2 NP_619650.2 Q8TD86 CALL6_HUMAN calmodulin-like 6 174 EF-hand 4. cytoplasm|nucleus calcium ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2) 7 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) ATGATGACGGGGGAGTCCTTC 0.697000 11 6 0 0 1 0 0 ANPEP 290 broad.mit.edu 37 15 90349308 90349308 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr15:90349308G>A ENST00000300060.6 - 2 820 c.507C>T c.(505-507)tcC>tcT p.S169S NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase 169 Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) CCTTCACCAGGGAGCCCTTGA 0.627000 71 15 0 0 1 0 0 LOC344967 344967 broad.mit.edu 37 4 40045344 40045344 + RNA SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:40045344G>A ENST00000381811.2 - 0 805 NR_027277.1 GCTCCTGCCGGAAATACACAA 0.592000 10 17 0 0 1 0 0 SPTBN4 57731 broad.mit.edu 37 19 41078007 41078007 + Missense_Mutation SNP A A C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:41078007A>C ENST00000352632.3 + 34 7488 c.7402A>C c.(7402-7404)Aca>Cca p.T2468P SPTBN4_ENST00000392025.1_Missense_Mutation_p.T1211P|SPTBN4_ENST00000593816.1_3'UTR|SPTBN4_ENST00000598249.1_Missense_Mutation_p.T2468P Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 2468 PH. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) ATCCGGGAGCACACACGGTGG 0.592000 112 94 0 0 1 0 0 AFAP1 60312 broad.mit.edu 37 4 7774552 7774552 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:7774552G>A ENST00000420658.1 - 16 2520 c.2248C>T c.(2248-2250)Cca>Tca p.P750S AFAP1_ENST00000360265.4_Missense_Mutation_p.P666S|AFAP1_ENST00000358461.2_Missense_Mutation_p.P666S|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000382543.3_Missense_Mutation_p.P750S NM_001134647.1 NP_001128119.1 Q8N556 AFAP1_HUMAN actin filament associated protein 1 666 actin cytoskeleton|cytoplasm|focal adhesion actin binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 CACACCTGTGGACTCGATGTC 0.662000 8 28 0 0 1 0 0 AP3D1 8943 broad.mit.edu 37 19 2129389 2129389 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:2129389G>A ENST00000355272.6 - 7 866 c.660C>T c.(658-660)tcC>tcT p.S220S AP3D1_ENST00000356926.4_Intron|AP3D1_ENST00000345016.5_Silent_p.S220S|AP3D1_ENST00000590683.1_5'UTR|AP3D1_ENST00000350812.6_Intron NM_001261826.1 NP_001248755.1 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 subunit 220 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 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) GCGGGGCCAGGGACAGGTAGT 0.572000 15 16 0 0 1 0 0 WNT7A 7476 broad.mit.edu 37 3 13860602 13860602 + Missense_Mutation SNP T T G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:13860602T>G ENST00000285018.4 - 4 1193 c.889A>C c.(889-891)Acg>Ccg p.T297P NM_004625.3 NP_004616.2 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, member 7A 297 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 24 TGGGGAGCCGTCTTGTTGCAG 0.642000 18 30 0 0 1 0 0 ZNF683 257101 broad.mit.edu 37 1 26688453 26688453 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:26688453C>T ENST00000436292.1 - 7 1384 c.1264G>A c.(1264-1266)Ggg>Agg p.G422R ZNF683_ENST00000403843.1_Missense_Mutation_p.G422R|ZNF683_ENST00000374204.1_Missense_Mutation_p.G402R|ZNF683_ENST00000349618.3_Missense_Mutation_p.G402R Q8IZ20 ZN683_HUMAN zinc finger protein 683 422 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 15 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) GGCCGGGCCCCGGAGTGCAGG 0.642000 48 70 0 0 1 0 0 MAPK8 5599 broad.mit.edu 37 10 49633255 49633255 + Nonsense_Mutation SNP T T G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:49633255T>G ENST00000374174.1 + 6 650 c.650T>G c.(649-651)tTa>tGa p.L217* MAPK8_ENST00000374189.1_Intron|MAPK8_ENST00000395611.3_Intron|MAPK8_ENST00000360332.3_Intron|MAPK8_ENST00000374182.3_Intron P45983 MK08_HUMAN mitogen-activated protein kinase 8 0 Protein kinase. activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 34 Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116) Epithelial(53;3.46e-65)|Lung(62;0.125) TTCACAAGGTTACAATAAGTG 0.363000 4 1 0 0 1 0 0 C12orf77 196415 broad.mit.edu 37 12 25148862 25148862 + Missense_Mutation SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:25148862T>C ENST00000549828.1 - 3 490 c.286A>G c.(286-288)Act>Gct p.T96A C12orf77_ENST00000434912.3_Missense_Mutation_p.T41A|C12orf77_ENST00000549262.1_Missense_Mutation_p.T41A NM_001101339.1 NP_001094809.1 C9JDV5 CL097_HUMAN chromosome 12 open reading frame 77 96 endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 7 GCTGTTTCAGTAGAGATGGCA 0.478000 24 12 0 0 1 0 0 RAG1 5896 broad.mit.edu 37 11 36597719 36597719 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:36597719C>T ENST00000299440.5 + 2 2977 c.2865C>T c.(2863-2865)tcC>tcT p.S955S NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 955 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) GGGATGGCTCCATTGGGGCAT 0.443000 Familial Hemophagocytic Lymphohistiocytosis 11 31 0 0 1 0 0 RBM47 54502 broad.mit.edu 37 4 40439985 40439985 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:40439985G>A ENST00000319592.4 - 4 1635 c.926C>T c.(925-927)tCg>tTg p.S309L RBM47_ENST00000295971.7_Missense_Mutation_p.S309L|RBM47_ENST00000514014.1_Missense_Mutation_p.S271L|RBM47_ENST00000381793.2_Missense_Mutation_p.S309L|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.S309L A0AV96 RBM47_HUMAN RNA binding motif protein 47 309 RRM 3. nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 CTCCAGGCACGAGCCCTCCAG 0.662000 16 39 0 0 1 0 0 GON4L 54856 broad.mit.edu 37 1 155792082 155792082 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:155792082G>A ENST00000437809.1 - 4 1005 c.883C>T c.(883-885)Ctt>Ttt p.L295F GON4L_ENST00000368331.1_Missense_Mutation_p.L295F|GON4L_ENST00000271883.5_Missense_Mutation_p.L295F|GON4L_ENST00000361040.5_Missense_Mutation_p.L295F|GON4L_ENST00000471341.1_5'UTR Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 295 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) CTCACATGAAGGATGTTTCGG 0.428000 23 127 0 0 1 0 0 BCL9L 283149 broad.mit.edu 37 11 118771541 118771541 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:118771541C>T ENST00000334801.3 - 6 3875 c.2911G>A c.(2911-2913)Gga>Aga p.G971R BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 971 Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) TTGAGAGGTCCTGGCGGGTTG 0.642000 52 35 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25427444 25427444 + RNA SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr15:25427444C>T ENST00000424208.1 + 0 241 NR_003305.1 TCGGGCCCTTCCTGGTGCCCT 0.622000 36 6 0 0 1 0 0 MSRB3 253827 broad.mit.edu 37 12 65856974 65856974 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:65856974C>T ENST00000308259.5 + 7 704 c.430C>T c.(430-432)Cgt>Tgt p.R144C MSRB3_ENST00000355192.3_Missense_Mutation_p.R151C|MSRB3_ENST00000535664.1_Missense_Mutation_p.R144C NM_001031679.2|NM_001193460.1 NP_001026849.1|NP_001180389.1 Q8IXL7 MSRB3_HUMAN methionine sulfoxide reductase B3 151 protein repair endoplasmic reticulum|mitochondrion peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1) 13 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.131) TGATGGGCCTCGTCCAACTGG 0.517000 57 41 0 0 1 0 0 BRIP1 83990 broad.mit.edu 37 17 59886056 59886056 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:59886056C>T ENST00000259008.2 - 7 957 c.690G>A c.(688-690)tcG>tcA p.S230S BRIP1_ENST00000577598.1_Silent_p.S230S NM_032043.2 NP_114432.2 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 230 Helicase ATP-binding. DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 TAATGGTATTCGATGACTCTT 0.408000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 31 6 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75039077 75039077 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:75039077C>T ENST00000326665.5 - 14 2535 c.2317G>A c.(2317-2319)Gaa>Aaa p.E773K C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 773 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TCCATTGCTTCTTTCTTCTCC 0.473000 97 35 0 0 1 0 0 CD300LF 146722 broad.mit.edu 37 17 72699273 72699273 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:72699273G>A ENST00000361254.4 - 3 400 c.401C>T c.(400-402)cCt>cTt p.P134L CD300LF_ENST00000464910.1_Intron|RAB37_ENST00000340415.3_Intron|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000326165.6_Intron|CD300LF_ENST00000343125.4_Intron|CD300LF_ENST00000301573.9_Intron|CD300LF_ENST00000583937.1_Missense_Mutation_p.P131L|CD300LF_ENST00000469092.1_Intron|CD300LF_ENST00000581500.1_Missense_Mutation_p.P134L Q8TDQ1 CLM1_HUMAN CD300 molecule-like family member f 127 integral to membrane|plasma membrane receptor activity endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 GGTGGGGGCAGGAGTCGACGC 0.592000 28 4 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109475607 109475607 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr13:109475607C>T ENST00000356711.2 + 9 1138 c.1012C>T c.(1012-1014)Ccc>Tcc p.P338S MYO16_ENST00000357550.2_Missense_Mutation_p.P338S|MYO16_ENST00000251041.5_Missense_Mutation_p.P338S NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 338 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity p.P338T(1) NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) TCACGATCTTCCCGTACTGTC 0.433000 52 43 0 0 1 0 0 GYPE 2996 broad.mit.edu 37 4 144826626 144826626 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:144826626G>A ENST00000358615.4 - 1 86 c.35C>T c.(34-36)tCa>tTa p.S12L GYPE_ENST00000437468.2_Missense_Mutation_p.S12L NM_198682.2 NP_941391.2 P15421 GLPE_HUMAN glycophorin E (MNS blood group) 12 integral to plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 all_hematologic(180;0.158) TCACTTACCTGACAATAGTAA 0.323000 5 20 0 0 1 0 0 SORBS2 8470 broad.mit.edu 37 4 186545032 186545032 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:186545032G>A ENST00000431808.1 - 14 2102 c.1539C>T c.(1537-1539)ttC>ttT p.F513F SORBS2_ENST00000355634.5_Silent_p.F613F|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000284776.7_Silent_p.F513F|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_Silent_p.F417F|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000437304.2_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 513 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) TCAGCTTTTCGAATTCGGAGA 0.572000 42 31 0 0 1 0 0 PSD 5662 broad.mit.edu 37 10 104173588 104173588 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:104173588C>T ENST00000020673.5 - 5 2017 c.1491G>A c.(1489-1491)agG>agA p.R497R PSD_ENST00000406432.1_Silent_p.R497R NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 497 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) TAGGGGGCTCCCTCCCTGGGG 0.622000 31 14 0 0 1 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182296 140182296 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:140182296C>T ENST00000522353.2 + 1 1514 c.1514C>T c.(1513-1515)tCg>tTg p.S505L PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.S505L|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCGCGCTGTCGAGCTACGTG 0.682000 69 17 0 0 1 0 0 WDR27 253769 broad.mit.edu 37 6 170072375 170072375 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:170072375C>T ENST00000333572.6 - 3 826 c.307G>A c.(307-309)Gaa>Aaa p.E103K WDR27_ENST00000420344.2_Missense_Mutation_p.E103K|WDR27_ENST00000423258.1_Missense_Mutation_p.E103K|WDR27_ENST00000448612.1_Missense_Mutation_p.E103K A2RRH5 WDR27_HUMAN WD repeat domain 27 103 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 12 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) TCTCTACATTCATCCAGGTTC 0.363000 4 13 0 0 1 0 0 TRAPPC10 7109 broad.mit.edu 37 21 45503144 45503144 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr21:45503144C>T ENST00000291574.4 + 14 2374 c.2199C>T c.(2197-2199)acC>acT p.T733T NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 733 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 GCCACGTGACCCTGGAACCAG 0.572000 43 60 0 0 1 0 0 GPR137C 283554 broad.mit.edu 37 14 53066870 53066870 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:53066870C>T ENST00000321662.6 + 3 528 c.528C>T c.(526-528)ctC>ctT p.L176L NM_001099652.1 NP_001093122.1 Q8N3F9 G137C_HUMAN G protein-coupled receptor 137C 176 integral to membrane NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 8 Breast(41;0.0716) CAAGCCTGCTCTTTTTAGTGG 0.333000 41 36 0 0 1 0 0 SLC46A3 283537 broad.mit.edu 37 13 29287434 29287434 + Nonsense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr13:29287434C>T ENST00000266943.6 - 3 812 c.443G>A c.(442-444)tGg>tAg p.W148* SLC46A3_ENST00000380814.4_Nonsense_Mutation_p.W148* NM_001135919.1|NM_181785.3 NP_001129391.1|NP_861450.1 Q7Z3Q1 S46A3_HUMAN solute carrier family 46, member 3 148 transmembrane transport integral to membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1) 15 Lung SC(185;0.0367) all cancers(112;0.159) GCAAGCTCCCCAAAATGTGGT 0.378000 24 19 0 0 1 0 0 GUCY2C 2984 broad.mit.edu 37 12 14773987 14773987 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:14773987C>T ENST00000261170.3 - 23 2901 c.2765G>A c.(2764-2766)gGa>gAa p.G922E NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 922 Guanylate cyclase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 AGAGTGAACTCCAATGCGAAT 0.458000 6 21 0 0 1 0 0 BAZ1B 9031 broad.mit.edu 37 7 72891688 72891688 + Silent SNP A A C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:72891688A>C ENST00000339594.4 - 7 2441 c.2103T>G c.(2101-2103)gtT>gtG p.V701V BAZ1B_ENST00000404251.1_Silent_p.V701V NM_032408.3 NP_115784.1 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 701 ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Lung NSC(55;0.0659)|all_lung(88;0.152) TTTCCTCCTGAACATCAGATC 0.473000 28 29 0 0 1 0 0 STARD6 147323 broad.mit.edu 37 18 51863496 51863496 + Splice_Site SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr18:51863496G>A ENST00000581310.1 - 6 639 c.267_splice c.e6+1 p.S89_splice STARD6_ENST00000307844.3_Splice_Site_p.S89_splice|STARD6_ENST00000580990.2_5'UTR P59095 STAR6_HUMAN StAR-related lipid transfer (START) domain containing 6 89 START. lipid transport lipid binding endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2) 8 Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188) ACAAATTACCGAATCAATCCT 0.308000 23 28 0 0 1 0 0 VOPP1 81552 broad.mit.edu 37 7 55540610 55540610 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:55540610G>A ENST00000285279.5 - 5 657 c.457C>T c.(457-459)Ccc>Tcc p.P153S VOPP1_ENST00000427700.1_Missense_Mutation_p.P151S|VOPP1_ENST00000453256.1_Missense_Mutation_p.P86S|VOPP1_ENST00000418904.1_Missense_Mutation_p.P136S|VOPP1_ENST00000545390.1_Missense_Mutation_p.P150S|VOPP1_ENST00000454227.1_Missense_Mutation_p.P90S|VOPP1_ENST00000433959.1_Missense_Mutation_p.P144S|VOPP1_ENST00000428648.1_Missense_Mutation_p.P86S|VOPP1_ENST00000428097.1_Missense_Mutation_p.P86S NM_030796.3 NP_110423.3 Q96AW1 VOPP1_HUMAN vesicular, overexpressed in cancer, prosurvival protein 1 153 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic vesicle membrane|endosome|integral to organelle membrane signal transducer activity endometrium(1)|lung(4) 5 GCTGGAGGGGGCGGGCAGGCC 0.647000 3 6 0 0 1 0 0 CTR9 9646 broad.mit.edu 37 11 10776721 10776721 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:10776721G>A ENST00000361367.2 + 3 787 c.361G>A c.(361-363)Gat>Aat p.D121N NM_014633.3 NP_055448.1 Q6PD62 CTR9_HUMAN CTR9, Paf1/RNA polymerase II complex component 121 histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1) 40 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) TACAATGGCCGATAAAATTAT 0.338000 14 61 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150928991 150928991 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:150928991G>A ENST00000261800.5 - 8 4666 c.4654C>T c.(4654-4656)Cca>Tca p.P1552S NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 1552 Cadherin 13. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAGCGGGGTGGGTGGAGGTTT 0.572000 12 3 0 0 1 0 0 SFMBT1 51460 broad.mit.edu 37 3 52950199 52950199 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:52950199G>A ENST00000394752.3 - 14 1829 c.1447C>T c.(1447-1449)Ctg>Ttg p.L483L SFMBT1_ENST00000358080.2_Silent_p.L483L|SFMBT1_ENST00000394750.1_Silent_p.L483L|SFMBT1_ENST00000296295.6_Silent_p.L483L NM_016329.3 NP_057413.2 Q9UHJ3 SMBT1_HUMAN Scm-like with four mbt domains 1 483 regulation of transcription, DNA-dependent nucleus breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 24 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) TGATTCCTCAGGCCCTCGTGG 0.398000 7 32 0 0 1 0 0 HIVEP2 3097 broad.mit.edu 37 6 143094279 143094279 + Missense_Mutation SNP C C A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:143094279C>A ENST00000367603.2 - 5 2339 c.1597G>T c.(1597-1599)Gct>Tct p.A533S HIVEP2_ENST00000367604.1_Missense_Mutation_p.A533S|HIVEP2_ENST00000012134.2_Missense_Mutation_p.A533S NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 533 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) TCTACAGGAGCTTCTAAGAGA 0.438000 9 42 0.000274275 0.000275197 1 1 0 NLRP10 338322 broad.mit.edu 37 11 7982099 7982099 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:7982099G>A ENST00000328600.2 - 2 1221 c.1060C>T c.(1060-1062)Cca>Tca p.P354S NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 354 NACHT. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CAAATGCCTGGAACCTGACAC 0.507000 29 22 0 0 1 0 0 ASTL 431705 broad.mit.edu 37 2 96789684 96789684 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:96789684C>T ENST00000342380.2 - 9 1200 c.1201G>A c.(1201-1203)Gaa>Aaa p.E401K NM_001002036.3 NP_001002036.3 Q6HA08 ASTL_HUMAN astacin-like metallo-endopeptidase (M12 family) 401 proteolysis metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2) 30 ATTCCTGCTTCTGAAGATGGG 0.592000 14 62 0 0 1 0 0 ATP1B1 481 broad.mit.edu 37 1 169080704 169080704 + Missense_Mutation SNP A A G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:169080704A>G ENST00000367816.1 + 3 723 c.194A>G c.(193-195)aAg>aGg p.K65R ATP1B1_ENST00000367813.3_Missense_Mutation_p.K57R|ATP1B1_ENST00000494797.1_3'UTR|ATP1B1_ENST00000367815.3_Missense_Mutation_p.K65R|ATP1B1_ENST00000499679.3_Missense_Mutation_p.K9R P05026 AT1B1_HUMAN ATPase, Na+/K+ transporting, beta 1 polypeptide 65 ATP biosynthetic process|blood coagulation|leukocyte migration sodium:potassium-exchanging ATPase complex protein binding|sodium:potassium-exchanging ATPase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 14 all_hematologic(923;0.208) AGTGAATTTAAGCCCACATAT 0.443000 69 26 0 0 1 0 0 SLC2A13 114134 broad.mit.edu 37 12 40345070 40345070 + Silent SNP A A T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:40345070A>T ENST00000280871.4 - 4 1073 c.1023T>A c.(1021-1023)atT>atA p.I341I SLC2A13_ENST00000380858.1_Silent_p.I341I NM_052885.3 NP_443117.3 Q96QE2 MYCT_HUMAN solute carrier family 2 (facilitated glucose transporter), member 13 341 integral to membrane|plasma membrane myo-inositol:hydrogen symporter activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 29 Lung NSC(34;0.105)|all_lung(34;0.123) TGATGGTGTTAATGCCTGAGA 0.388000 HNSCC(50;0.14) 12 13 0 0 1 0 0 NAT10 55226 broad.mit.edu 37 11 34152949 34152949 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:34152949C>T ENST00000257829.3 + 14 1597 c.1391C>T c.(1390-1392)tCc>tTc p.S464F NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Missense_Mutation_p.S392F NM_024662.2 NP_078938.2 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 (GCN5-related) 464 nucleolus ATP binding|N-acetyltransferase activity|protein binding endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) TATGAGGTTTCCCTCCAGGAG 0.458000 16 40 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179616229 179616229 + Missense_Mutation SNP A A G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:179616229A>G ENST00000360870.5 - 46 11120 c.10898T>C c.(10897-10899)gTt>gCt p.V3633A TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9482 Ig-like 22. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCTCAGGTCAACCTTTATCCT 0.378000 88 48 0 0 1 0 0 AOX1 316 broad.mit.edu 37 2 201477399 201477399 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:201477399G>A ENST00000374700.2 + 14 1572 c.1331G>A c.(1330-1332)gGa>gAa p.G444E AOX1_ENST00000485106.1_3'UTR NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 444 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) GTCAATTCAGGAATGAGAGTC 0.468000 19 69 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18852825 18852825 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:18852825C>T ENST00000447925.2 - 10 1340 c.1071G>A c.(1069-1071)gaG>gaA p.E357E PLCZ1_ENST00000266505.7_Silent_p.E359E|PLCZ1_ENST00000541695.1_Silent_p.E222E|PLCZ1_ENST00000539875.1_Silent_p.E166E|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000538330.1_Silent_p.E141E|PLCZ1_ENST00000435379.1_Silent_p.E164E NM_033123.2 NP_149114.2 Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 359 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) TTTTGAATTTCTCAGCTTTCG 0.313000 6 8 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 79971513 79971513 + Splice_Site SNP G G T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:79971513G>T ENST00000466387.1 + 7 827 c.102_splice c.e7-1 p.V35_splice CTNNA2_ENST00000540488.1_Splice_Site_p.V35_splice|CTNNA2_ENST00000361291.4_Splice_Site_p.V69_splice|CTNNA2_ENST00000541047.1_Splice_Site_p.V35_splice|CTNNA2_ENST00000496558.1_Splice_Site_p.V35_splice|CTNNA2_ENST00000402739.4_Splice_Site_p.V35_splice P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 35 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 TATATTTAAGGTGACTACACT 0.373000 25 19 2.79863e-10 2.83182e-10 1 1 0 DPYS 1807 broad.mit.edu 37 8 105405119 105405119 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:105405119C>T ENST00000351513.2 - 8 1468 c.1336G>A c.(1336-1338)Gtg>Atg p.V446M DPYS_ENST00000521601.1_Intron NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 446 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) TCATATACCACTTTGCCTCTT 0.443000 79 81 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121787096 121787096 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:121787096G>A ENST00000261367.7 + 12 4123 c.2695G>A c.(2695-2697)Gaa>Aaa p.E899K SNCAIP_ENST00000542191.1_Missense_Mutation_p.E410K|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E899K|SNCAIP_ENST00000261368.8_Missense_Mutation_p.E852K|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.E792K|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.E486K|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000414317.2_Missense_Mutation_p.E454K Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 852 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) CACAAGTAACGAATCGGGGGA 0.478000 27 12 0 0 1 0 0 HSD17B2 3294 broad.mit.edu 37 16 82124623 82124623 + Nonsense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:82124623C>T ENST00000199936.4 + 4 974 c.781C>T c.(781-783)Caa>Taa p.Q261* RP11-510J16.5_ENST00000567021.1_RNA NM_002153.2 NP_002144.1 P37059 DHB2_HUMAN hydroxysteroid (17-beta) dehydrogenase 2 261 response to retinoic acid|steroid biosynthetic process endoplasmic reticulum membrane|integral to membrane 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 10 NADH(DB00157) TGCTTCCATCCAACCTGGAGG 0.498000 22 50 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 147743680 147743680 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:147743680G>A ENST00000370460.2 + 3 911 c.432G>A c.(430-432)ctG>ctA p.L144L AFF2_ENST00000370457.5_Silent_p.L140L|AFF2_ENST00000370458.1_Silent_p.L140L|AFF2_ENST00000342251.3_Silent_p.L140L NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 144 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) TTGTGATACTGAATTCAACTC 0.443000 163 21 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107938070 107938070 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:107938070C>T ENST00000328300.6 + 51 4984 c.4740C>T c.(4738-4740)atC>atT p.I1580I COL4A5_ENST00000361603.2_Silent_p.I1574I NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1574 Collagen IV NC1. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 CTGTGGTGATCGCAGTTCACA 0.453000 Alport syndrome with Diffuse Leiomyomatosis 36 3 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155237102 155237102 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:155237102C>T ENST00000357232.3 - 15 3692 c.3693G>A c.(3691-3693)atG>atA p.M1231I NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1231 Cadherin 10. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) GCTGAGTTTTCATTTCATAAT 0.378000 15 11 0 0 1 0 0 DOCK9 23348 broad.mit.edu 37 13 99515695 99515695 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr13:99515695G>A ENST00000376460.1 - 31 3474 c.3394C>T c.(3394-3396)Cgt>Tgt p.R1132C DOCK9_ENST00000339416.2_Missense_Mutation_p.R1133C|DOCK9_ENST00000461998.1_5'UTR|DOCK9_ENST00000448493.2_Missense_Mutation_p.R1144C|DOCK9_ENST00000442173.1_Missense_Mutation_p.R1132C NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 1133 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GCGATCAGACGGACCTCCCGG 0.507000 16 53 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112608237 112608237 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:112608237C>T ENST00000550722.1 - 69 11909 c.11514G>A c.(11512-11514)acG>acA p.T3838T HECTD4_ENST00000430131.2_Silent_p.T3562T|HECTD4_ENST00000377560.5_Silent_p.T3812T NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 CGGTCACCTTCGTGTCATAGA 0.587000 OREG0022132 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 26 0 0 1 0 0 GRIK4 2900 broad.mit.edu 37 11 120732707 120732707 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:120732707C>T ENST00000527524.2 + 9 1071 c.784C>T c.(784-786)Cgt>Tgt p.R262C GRIK4_ENST00000438375.2_Missense_Mutation_p.R262C|GRIK4_ENST00000527130.1_3'UTR Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 262 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) TGTGGATGATCGTGTCAACAT 0.483000 95 78 0 0 1 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58549280 58549280 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:58549280C>T ENST00000282326.1 + 3 323 c.76C>T c.(76-78)Cct>Tct p.P26S ZSCAN1_ENST00000601162.1_Missense_Mutation_p.P26S|ZSCAN1_ENST00000391700.1_Missense_Mutation_p.P26S NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 26 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GGACGCAGACCCTGGGCCAGC 0.697000 4 7 0 0 1 0 0 MDH1 4190 broad.mit.edu 37 2 63833147 63833147 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:63833147C>T ENST00000233114.8 + 8 1299 c.864C>T c.(862-864)ttC>ttT p.F288F MDH1_ENST00000394423.1_Silent_p.F288F|MDH1_ENST00000409908.1_Silent_p.F123F|MDH1_ENST00000409476.1_Silent_p.F164F|MDH1_ENST00000544381.1_Silent_p.F199F|MDH1_ENST00000539945.1_Silent_p.F306F NM_005917.3 NP_005908.1 P40925 MDHC_HUMAN malate dehydrogenase 1, NAD (soluble) 288 gluconeogenesis|tricarboxylic acid cycle centrosome|cytosol L-malate dehydrogenase activity|malic enzyme activity endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4) 13 NADH(DB00157) TCTACTCATTCCCTGTTGTAA 0.398000 76 44 0 0 1 0 0 ZNF780B 163131 broad.mit.edu 37 19 40540276 40540276 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:40540276G>A ENST00000434248.1 - 5 2555 c.2490C>T c.(2488-2490)ttC>ttT p.F830F ZNF780B_ENST00000221355.6_Silent_p.F682F NM_001005851.2 NP_001005851.1 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 830 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) ACCCAAGTATGAATTTTCTGA 0.378000 9 19 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218674599 218674599 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:218674599G>A ENST00000171887.4 - 30 5360 c.4908C>T c.(4906-4908)atC>atT p.I1636I TNS1_ENST00000419504.1_Silent_p.I1622I|TNS1_ENST00000430930.1_Silent_p.I1615I NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 1636 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) TGAAGTGAACGATGGTGGCAG 0.562000 5 29 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17073359 17073359 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:17073359C>T ENST00000359963.3 - 1 341 c.82G>A c.(82-84)Gag>Aag p.E28K NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 28 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) GGCTCCTCCTCTTCTGGACTC 0.657000 31 47 0 0 1 0 0 ZIC1 7545 broad.mit.edu 37 3 147130318 147130318 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:147130318C>T ENST00000282928.4 + 2 1725 c.996C>T c.(994-996)ttC>ttT p.F332F NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 332 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 AGAAGCCCTTCAAGTGCGAGT 0.473000 11 37 0 0 1 0 0 TP53I11 9537 broad.mit.edu 37 11 44959125 44959125 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:44959125G>A ENST00000533940.1 - 6 773 c.169C>T c.(169-171)Cgg>Tgg p.R57W TP53I11_ENST00000308212.5_Missense_Mutation_p.R57W|TP53I11_ENST00000395648.3_Missense_Mutation_p.R57W|TP53I11_ENST00000525680.1_Missense_Mutation_p.R57W|TP53I11_ENST00000531928.2_Missense_Mutation_p.R57W|TP53I11_ENST00000531130.2_5'UTR NM_001258320.1 NP_001245249.1 O14683 P5I11_HUMAN tumor protein p53 inducible protein 11 57 negative regulation of cell proliferation|response to stress integral to membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1) 5 AAAGGCTCCCGAATGGTAAAC 0.582000 6 14 0 0 1 0 0 HOXA5 3202 broad.mit.edu 37 7 27181462 27181462 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:27181462G>A ENST00000222726.3 - 2 865 c.805C>T c.(805-807)Cgt>Tgt p.R269C HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA5_ENST00000520854.1_5'UTR|HOXA3_ENST00000467897.2_Intron NM_019102.3 NP_061975.2 P20719 HXA5_HUMAN homeobox A5 269 negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1) 16 ACTCAGGGACGGAAGGCCCCT 0.468000 OREG0017911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 25 0 0 1 0 0 ZNF786 136051 broad.mit.edu 37 7 148768477 148768477 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:148768477G>A ENST00000316286.9 - 3 1401 c.1129C>T c.(1129-1131)Cgt>Tgt p.R377C ZNF786_ENST00000451334.3_Missense_Mutation_p.R426C|ZNF786_ENST00000491431.1_Missense_Mutation_p.R463C Q8N393 ZN786_HUMAN zinc finger protein 786 463 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CCCCTCTGACGGAAGTTCCTG 0.612000 5 22 0 0 1 0 0 CEACAM18 729767 broad.mit.edu 37 19 51986412 51986412 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:51986412C>T ENST00000396477.4 + 4 836 c.815C>T c.(814-816)tCc>tTc p.S272F CEACAM18_ENST00000451626.1_Missense_Mutation_p.S333F NM_001278392.1 NP_001265321.1 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion molecule 18 333 integral to membrane breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1) 17 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CACAATGGCTCCCTCCTGAAC 0.527000 38 81 0 0 1 0 0 SPATA18 132671 broad.mit.edu 37 4 52943099 52943099 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:52943099C>T ENST00000295213.4 + 7 1287 c.913C>T c.(913-915)Cgg>Tgg p.R305W SPATA18_ENST00000419395.2_Missense_Mutation_p.R273W NM_145263.2 NP_660306.1 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 305 Ser-rich. mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) CCTCTTGTCCCGGTTCAGCGA 0.637000 20 11 0 0 1 0 0 CCDC85A 114800 broad.mit.edu 37 2 56611435 56611435 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:56611435C>T ENST00000407595.2 + 6 2109 c.1607C>T c.(1606-1608)tCg>tTg p.S536L RP11-482H16.1_ENST00000607540.1_RNA NM_001080433.1 NP_001073902.1 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 536 breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3) 38 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GCTGCAGGTTCGTGTCCTGGA 0.408000 26 11 0 0 1 0 0 OR4K1 79544 broad.mit.edu 37 14 20404336 20404336 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:20404336C>T ENST00000285600.4 + 1 570 c.511C>T c.(511-513)Ccc>Tcc p.P171S NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P171S(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) ATTCTGTGGTCCCAATGAGGT 0.478000 55 62 0 0 1 0 0 ARMC4P1 101060171 broad.mit.edu 37 10 27551988 27551988 + RNA SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:27551988G>A ENST00000576034.1 + 0 244 TGGAATCCTCGAAATCACCCC 0.448000 11 4 0 0 1 0 0 TSC1 7248 broad.mit.edu 37 9 135781444 135781444 + Silent SNP A A G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:135781444A>G ENST00000298552.3 - 15 1742 c.1521T>C c.(1519-1521)ttT>ttC p.F507F TSC1_ENST00000545250.1_Silent_p.F456F|TSC1_ENST00000440111.2_Silent_p.F507F NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 507 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) TGTCTCGGTAAAAGGGAGAGT 0.562000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 7 16 0 0 1 0 0 COL26A1 136227 broad.mit.edu 37 7 101192473 101192473 + RNA SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:101192473C>T ENST00000313669.7 + 0 1154 COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000397927.3_RNA NM_133457.2 NP_597714.2 collagen, type XXVI, alpha 1 CCTCGAGGTCCCCCAGGACCC 0.667000 17 23 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201016683 201016683 + Missense_Mutation SNP G G T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:201016683G>T ENST00000362061.3 - 37 4739 c.4513C>A c.(4513-4515)Ctc>Atc p.L1505I CACNA1S_ENST00000367338.3_Missense_Mutation_p.L1486I NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1505 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TGGTCCAAGAGCTTCATGCTG 0.537000 14 60 2.32078e-09 2.34565e-09 1 1 0 POU2F3 25833 broad.mit.edu 37 11 120175767 120175767 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:120175767C>T ENST00000260264.4 + 7 513 c.479C>T c.(478-480)tCc>tTc p.S160F POU2F3_ENST00000543440.2_Missense_Mutation_p.S158F NM_001244682.1 NP_001231611.1 Q9UKI9 PO2F3_HUMAN POU class 2 homeobox 3 158 negative regulation by host of viral transcription cytoplasm sequence-specific DNA binding large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1) 17 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) CTGCCAGGATCCTCTTTAGAA 0.512000 23 24 0 0 1 0 0 ZFP42 132625 broad.mit.edu 37 4 188924022 188924022 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:188924022G>A ENST00000326866.4 + 4 469 c.61G>A c.(61-63)Gcc>Acc p.A21T ZFP42_ENST00000509524.1_Missense_Mutation_p.A21T NM_174900.3 NP_777560.2 Q96MM3 ZFP42_HUMAN ZFP42 zinc finger protein 21 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) GGGTGGAAGAGCCCCCAGTGG 0.552000 26 35 0 0 1 0 0 RABL5 64792 broad.mit.edu 37 7 100961490 100961490 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:100961490G>A ENST00000315322.4 - 3 214 c.121C>T c.(121-123)Cta>Tta p.L41L RABL5_ENST00000495166.1_Intron|RABL5_ENST00000498704.2_5'UTR|RABL5_ENST00000517481.1_5'UTR|RABL5_ENST00000437644.2_Intron NM_022777.2 NP_073614.1 Q9H7X7 RABL5_HUMAN RAB, member RAS oncogene family-like 5 41 GTP binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 7 Lung NSC(181;0.215) TCAAATTCTAGGATCCTAAAA 0.507000 89 93 0 0 1 0 0 STK32C 282974 broad.mit.edu 37 10 134021527 134021527 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:134021527G>A ENST00000368622.1 - 12 1478 c.1097C>T c.(1096-1098)gCc>gTc p.A366V STK32C_ENST00000368625.4_Missense_Mutation_p.A496V Q86UX6 ST32C_HUMAN serine/threonine kinase 32C 483 ATP binding|metal ion binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1) 23 all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203) Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222) GCCGCTCCCGGCCGAGGGGCA 0.711000 12 4 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198725049 198725049 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:198725049C>T ENST00000367376.2 + 33 3825 c.3654C>T c.(3652-3654)ttC>ttT p.F1218F PTPRC_ENST00000348564.6_Silent_p.F1059F|PTPRC_ENST00000442510.2_Silent_p.F1220F|PTPRC_ENST00000352140.3_Silent_p.F1170F|PTPRC_ENST00000594404.1_Silent_p.F1057F NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 1218 Tyrosine-protein phosphatase 2. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 AATATCAATTCCTATATGACG 0.338000 62 14 0 0 1 0 0 ISM2 145501 broad.mit.edu 37 14 77941982 77941982 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:77941982C>T ENST00000393684.3 - 8 1799 c.1408G>A c.(1408-1410)Gag>Aag p.E470K ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000342219.4_Missense_Mutation_p.E558K|ISM2_ENST00000429906.1_Missense_Mutation_p.E477K|ISM2_ENST00000412904.1_Missense_Mutation_p.E477K Q6H9L7 ISM2_HUMAN isthmin 2 558 AMOP. extracellular region endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 21 TACTCCTCCTCCAGGGGGTTG 0.642000 80 50 0 0 1 0 0 ARL6 84100 broad.mit.edu 37 3 97486989 97486989 + Missense_Mutation SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:97486989T>C ENST00000463745.1 + 2 515 c.38T>C c.(37-39)cTg>cCg p.L13P ARL6_ENST00000394206.1_Missense_Mutation_p.L13P|ARL6_ENST00000496713.1_3'UTR|ARL6_ENST00000335979.2_Missense_Mutation_p.L13P NM_001278293.1 NP_001265222.1 Q9H0F7 ARL6_HUMAN ADP-ribosylation factor-like 6 13 cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body GTP binding|metal ion binding|phospholipid binding|protein binding large_intestine(1)|lung(4) 5 Lung NSC(201;0.0193)|Prostate(884;0.174) LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189) TTGCTTGGCCTGAAGAAGAAG 0.353000 15 45 0 0 1 0 0 KIAA1804 84451 broad.mit.edu 37 1 233514713 233514713 + Nonsense_Mutation SNP T T A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:233514713T>A ENST00000366624.3 + 9 2222 c.1961T>A c.(1960-1962)tTa>tAa p.L654* MLK4_ENST00000366622.1_Nonsense_Mutation_p.L100* NM_032435.2 NP_115811.2 CCTGATGGATTAGAACACAGA 0.378000 14 70 0 0 1 0 0 SLC6A13 6540 broad.mit.edu 37 12 336826 336826 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:336826C>T ENST00000343164.4 - 8 892 c.840G>A c.(838-840)atG>atA p.M280I SLC6A13_ENST00000445055.2_Missense_Mutation_p.M188I NM_016615.4 NP_057699.2 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter transporter), member 13 280 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) TGCCTGCATCCATCCACACCT 0.552000 5 19 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24401909 24401909 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:24401909C>T ENST00000330966.7 - 22 2923 c.2761G>A c.(2761-2763)Gaa>Aaa p.E921K MYOM3_ENST00000374434.3_Missense_Mutation_p.E920K|MYOM3_ENST00000329601.7_Missense_Mutation_p.E920K|RP11-293P20.4_ENST00000429191.1_RNA|RP11-293P20.2_ENST00000439239.2_RNA Q5VTT5 MYOM3_HUMAN myomesin 3 920 NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) TCAGGGGCTTCAAAAGCCAAA 0.517000 78 32 0 0 1 0 0 TAS1R1 80835 broad.mit.edu 37 1 6635392 6635392 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:6635392C>T ENST00000333172.6 + 3 1393 c.1200C>T c.(1198-1200)ctC>ctT p.L400L TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Silent_p.L400L NM_138697.3 NP_619642.2 Q7RTX1 TS1R1_HUMAN taste receptor, type 1, member 1 400 sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2) 29 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) CCCATGGCCTCCACCAGCTCC 0.607000 29 40 0 0 1 0 0 MEGF10 84466 broad.mit.edu 37 5 126776451 126776451 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:126776451G>A ENST00000274473.6 + 19 2521 c.2254G>A c.(2254-2256)Gga>Aga p.G752R MEGF10_ENST00000503335.2_Missense_Mutation_p.G752R NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 752 EGF-like 14.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup p.G752*(1) breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) AGGGTTTTATGGAAAAGATTG 0.512000 33 8 0 0 1 0 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10862651 10862651 + RNA SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr21:10862651G>A ENST00000559480.1 + 0 30 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 TCCTGTTTTTGGTGGTCATAG 0.517000 32 335 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 151094937 151094937 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:151094937G>A ENST00000474524.1 + 28 4220 c.4182G>A c.(4180-4182)acG>acA p.T1394T P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Silent_p.T1254T NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1394 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CAAGTAGCACGAGACAGAATG 0.368000 16 7 0 0 1 0 0 UGGT2 55757 broad.mit.edu 37 13 96536846 96536846 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr13:96536846G>A ENST00000376747.3 - 27 3197 c.3127C>T c.(3127-3129)Cct>Tct p.P1043S NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 1043 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 GGTGATTCAGGAATATCCAAA 0.408000 28 28 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30701840 30701840 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:30701840G>A ENST00000256246.2 - 1 4768 c.4694C>T c.(4693-4695)tCc>tTc p.S1565F NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1565 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TCCTGGTTTGGAAATATAGGC 0.398000 43 74 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9060263 9060263 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:9060263C>T ENST00000397910.4 - 3 27386 c.27183G>A c.(27181-27183)gtG>gtA p.V9061V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9063 Ser-rich.|Thr-rich. S -> T (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCCTGGTGATCACTTCAGTGG 0.498000 28 35 0 0 1 0 0 MYO1F 4542 broad.mit.edu 37 19 8604862 8604862 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:8604862C>T ENST00000338257.8 - 16 1928 c.1661G>A c.(1660-1662)gGg>gAg p.G554E NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 554 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 GCTGGGGCGCCCCTTCTTGTC 0.642000 8 27 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176845698 176845698 + Silent SNP G G A rs144976382 by1000genomes TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:176845698G>A ENST00000367654.2 - 21 3475 c.3462C>T c.(3460-3462)ccC>ccT p.P1154P ASTN1_ENST00000361833.2_Silent_p.P1146P|ASTN1_ENST00000367657.3_Silent_p.P1146P|ASTN1_ENST00000424564.2_Silent_p.P1146P O14525 ASTN1_HUMAN astrotactin 1 1154 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CATCCACCACGGGGCATGGGG 0.582000 12 88 0 0 1 0 0 PCOLCE2 26577 broad.mit.edu 37 3 142607685 142607685 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:142607685G>A ENST00000295992.3 - 1 360 c.54C>T c.(52-54)acC>acT p.T18T PCOLCE2_ENST00000485766.1_Silent_p.T18T|PCOLCE2_ENST00000461818.1_5'UTR NM_013363.3 NP_037495.1 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 18 extracellular region collagen binding|heparin binding|peptidase activator activity NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 32 GCGAGAGCTGGGTGGCGGCAG 0.721000 7 6 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80732900 80732900 + Missense_Mutation SNP G G A rs143817729 by1000genomes TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:80732900G>A ENST00000458043.2 + 42 4885 c.4879G>A c.(4879-4881)Gaa>Aaa p.E1627K OTOGL_ENST00000547103.1_Missense_Mutation_p.E1615K NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TTCAAGTCAGGAACTGTCCAT 0.338000 23 52 0 0 1 0 0 MED8 112950 broad.mit.edu 37 1 43852618 43852618 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:43852618G>A ENST00000372457.4 - 4 365 c.322C>T c.(322-324)Cat>Tat p.H108Y MED8_ENST00000290663.6_Missense_Mutation_p.H108Y|RP1-92O14.6_ENST00000436713.1_RNA|MED8_ENST00000372455.4_Missense_Mutation_p.H19Y NM_001001653.2|NM_201542.3 NP_001001653.1|NP_963836.2 Q96G25 MED8_HUMAN mediator complex subunit 8 108 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 9 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GTTCTCAGATGGTCAGGGACT 0.517000 117 41 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40433642 40433642 + Silent SNP G G A rs138162470 byFrequency TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:40433642G>A ENST00000221347.6 - 2 634 c.627C>T c.(625-627)ctC>ctT p.L209L NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 209 IgGFc-binding. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TTGACCCCGAGAGATCCACTG 0.552000 24 57 0 0 1 0 0 FOXN2 3344 broad.mit.edu 37 2 48573792 48573792 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:48573792C>T ENST00000340553.3 + 3 700 c.439C>T c.(439-441)Cca>Tca p.P147S NM_002158.3 NP_002149.2 P32314 FOXN2_HUMAN forkhead box N2 147 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|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 endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 13 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036) GGACCATTTTCCATATTTTGC 0.393000 120 48 0 0 1 0 0 MC3R 4159 broad.mit.edu 37 20 54824478 54824478 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:54824478C>T ENST00000243911.2 + 1 691 c.579C>T c.(577-579)atC>atT p.I193I NM_019888.3 NP_063941.3 P41968 MC3R_HUMAN melanocortin 3 receptor 230 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) TGTGCCTCATCACCATGTTCT 0.577000 92 53 0 0 1 0 0 ABHD3 171586 broad.mit.edu 37 18 19282284 19282284 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr18:19282284C>T ENST00000289119.2 - 3 641 c.502G>A c.(502-504)Gga>Aga p.G168R ABHD3_ENST00000580981.1_Missense_Mutation_p.G168R|ABHD3_ENST00000579875.1_5'UTR|ABHD3_ENST00000578270.1_5'UTR NM_138340.4 NP_612213.2 Q8WU67 ABHD3_HUMAN abhydrolase domain containing 3 168 integral to membrane carboxylesterase activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2) 10 TACCTGTATCCTAATTCTTCA 0.368000 19 34 0 0 1 0 0 KRT81 3887 broad.mit.edu 37 12 52682147 52682147 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:52682147C>T ENST00000327741.5 - 4 801 c.733G>A c.(733-735)Gag>Aag p.E245K KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron NM_002281.3 NP_002272.2 Q14533 KRT81_HUMAN keratin 81 245 Coil 1B.|Rod. keratin filament protein binding|structural molecule activity breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1) 16 BRCA - Breast invasive adenocarcinoma(357;0.189) GCCCGCACCTCCTCATACAGC 0.612000 39 35 0 0 1 0 0 KIAA1755 85449 broad.mit.edu 37 20 36869200 36869200 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:36869200C>T ENST00000279024.4 - 3 1604 c.1333G>A c.(1333-1335)Gag>Aag p.E445K NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 445 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) CCATTTCTCTCTTTGGTCTTC 0.577000 39 99 0 0 1 0 0 PROC 5624 broad.mit.edu 37 2 128186467 128186467 + Nonsense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:128186467G>A ENST00000453608.2 + 8 1504 c.1496G>A c.(1495-1497)tGg>tAg p.W499* PROC_ENST00000422777.3_Nonsense_Mutation_p.W444*|PROC_ENST00000234071.3_Nonsense_Mutation_p.W444*|PROC_ENST00000409048.1_Nonsense_Mutation_p.W478* P04070 PROC_HUMAN protein C (inactivator of coagulation factors Va and VIIIa) 444 blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|protein binding|serine-type endopeptidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0673) Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464) TACCTCGACTGGATCCATGGG 0.612000 30 155 0 0 1 0 0 FUT10 84750 broad.mit.edu 37 8 33318914 33318914 + Silent SNP G G A rs144713664 TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:33318914G>A ENST00000327671.5 - 2 688 c.57C>T c.(55-57)acC>acT p.T19T FUT10_ENST00000524021.1_Intron|FUT10_ENST00000518672.1_Intron|FUT10_ENST00000335589.3_5'UTR NM_032664.3 NP_116053.3 Q6P4F1 FUT10_HUMAN fucosyltransferase 10 (alpha (1,3) fucosyltransferase) 19 embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 29 KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154) GCAGAAAGACGGTGGCTGTGA 0.542000 4 63 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166179728 166179728 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:166179728C>T ENST00000357398.3 + 12 2024 c.1734C>T c.(1732-1734)ttC>ttT p.F578F SCN2A_ENST00000283256.6_Silent_p.F578F|SCN2A_ENST00000375437.2_Silent_p.F578F|SCN2A_ENST00000375427.2_Silent_p.F578F Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 578 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) CGAGCCTTTTCAGCTTCAGAG 0.468000 8 46 0 0 1 0 0 COBL 23242 broad.mit.edu 37 7 51111250 51111250 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:51111250G>A ENST00000395542.2 - 10 1666 c.1482C>T c.(1480-1482)tcC>tcT p.S494S COBL_ENST00000265136.7_Silent_p.S412S O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 412 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) TGTCTGAGGGGGAACTCATCA 0.587000 25 31 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 129694173 129694173 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:129694173C>T ENST00000422113.2 - 5 1661 c.1335G>A c.(1333-1335)ggG>ggA p.G445G RP11-669N7.3_ENST00000542578.1_lincRNA NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 445 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CCACCGTCTTCCCCGTGAGGA 0.587000 17 25 0 0 1 0 0 MICAL3 57553 broad.mit.edu 37 22 18384657 18384657 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:18384657C>T ENST00000441493.2 - 5 1030 c.678G>A c.(676-678)agG>agA p.R226R MICAL3_ENST00000414725.2_Silent_p.R226R|MICAL3_ENST00000207726.7_Silent_p.R226R|MICAL3_ENST00000400561.2_Silent_p.R226R|MICAL3_ENST00000585038.1_Silent_p.R226R|MICAL3_ENST00000429452.1_Silent_p.R226R|MICAL3_ENST00000383094.3_Silent_p.R226R|MICAL3_ENST00000444520.1_Silent_p.R226R NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 226 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) CCAAGGTGTTCCTCCGACCAT 0.552000 16 14 0 0 1 0 0 TMPRSS3 64699 broad.mit.edu 37 21 43809080 43809080 + Missense_Mutation SNP C C T rs143762350 TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr21:43809080C>T ENST00000291532.3 - 4 1235 c.280G>A c.(280-282)Gga>Aga p.G94R TMPRSS3_ENST00000398405.1_Missense_Mutation_p.G92R|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.G178R|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.G94R|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.G94R NM_032404.2 NP_115780.1 P57727 TMPS3_HUMAN transmembrane protease, serine 3 94 LDL-receptor class A. cellular sodium ion homeostasis|proteolysis endoplasmic reticulum membrane|integral to membrane scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1) 13 TCCGAGACTCCGTCACATCGA 0.537000 15 25 0 0 1 0 0 MYSM1 114803 broad.mit.edu 37 1 59147776 59147776 + Nonsense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:59147776G>A ENST00000472487.1 - 8 979 c.940C>T c.(940-942)Cag>Tag p.Q314* MYSM1_ENST00000493821.1_5'UTR NM_001085487.2 NP_001078956.1 Q5VVJ2 MYSM1_HUMAN Myb-like, SWIRM and MPN domains 1 314 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin remodeling complex DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(7;9.36e-06) TTAAATTTCTGGTCATTTAAT 0.358000 120 39 0 0 1 0 0 DMKN 93099 broad.mit.edu 37 19 36002317 36002317 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:36002317G>A ENST00000339686.3 - 5 1090 c.914C>T c.(913-915)tCc>tTc p.S305F DMKN_ENST00000429837.1_Intron|DMKN_ENST00000447113.2_Missense_Mutation_p.S305F|DMKN_ENST00000424570.2_Missense_Mutation_p.S305F|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000451297.2_Missense_Mutation_p.S305F|DMKN_ENST00000418261.1_Missense_Mutation_p.S305F|DMKN_ENST00000440396.1_Missense_Mutation_p.S305F NM_033317.4 NP_201574.3 Q6E0U4 DMKN_HUMAN dermokine 305 Gly-rich. extracellular region NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2) 27 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) ACTCACCCAGGAGGACTCACT 0.642000 8 29 0 0 1 0 0 GPN2 54707 broad.mit.edu 37 1 27210669 27210669 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:27210669G>A ENST00000374135.4 - 4 1042 c.842C>T c.(841-843)gCc>gTc p.A281V GPN2_ENST00000374133.3_Missense_Mutation_p.A102V NM_018066.3 NP_060536.3 Q9H9Y4 GPN2_HUMAN GPN-loop GTPase 2 281 GTP binding endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 ATGGAAGTCGGCTCCCATTGC 0.537000 27 42 0 0 1 0 0 PCDHB10 56126 broad.mit.edu 37 5 140573265 140573265 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:140573265G>A ENST00000239446.4 + 1 1324 c.1140G>A c.(1138-1140)aaG>aaA p.K380K NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 380 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAAATGGAAAGATGGTTTGCT 0.413000 3 20 0 0 1 0 0 ZMYM4 9202 broad.mit.edu 37 1 35873739 35873739 + Silent SNP C C T rs138638219 TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:35873739C>T ENST00000314607.6 + 26 4007 c.3927C>T c.(3925-3927)taC>taT p.Y1309Y ZMYM4_ENST00000373297.2_Silent_p.Y1220Y NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 1309 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GTATCTTATACTTGTGCCTTG 0.403000 29 61 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100607746 100607746 + Splice_Site SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:100607746G>A ENST00000319509.7 + 5 1893 c.1892_splice c.e5-1 p.R631_splice RP11-395B7.2_ENST00000420080.1_RNA|RP11-395B7.2_ENST00000434775.1_RNA mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 GACCCCTCAGGAATGGCAGCA 0.597000 8 74 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38795982 38795982 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:38795982G>A ENST00000359357.3 + 28 3709 c.3455G>A c.(3454-3456)aGa>aAa p.R1152K DNAH8_ENST00000449981.2_Missense_Mutation_p.R1369K|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1152K dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ATTTTAAACAGATTTGAAGTT 0.358000 36 24 0 0 1 0 0 GON4L 54856 broad.mit.edu 37 1 155790414 155790414 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:155790414C>T ENST00000437809.1 - 6 1119 c.997G>A c.(997-999)Gta>Ata p.V333I GON4L_ENST00000368331.1_Missense_Mutation_p.V333I|GON4L_ENST00000271883.5_Missense_Mutation_p.V333I|GON4L_ENST00000361040.5_Missense_Mutation_p.V333I|GON4L_ENST00000471341.1_5'UTR Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 333 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) TTTTCCACTACTTCCTTCAGT 0.368000 16 54 0 0 1 0 0 PCDHA5 56143 broad.mit.edu 37 5 140202306 140202306 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:140202306G>A ENST00000529859.1 + 1 946 c.946G>A c.(946-948)Gaa>Aaa p.E316K PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.E316K|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.E316K|PCDHA1_ENST00000394633.3_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAACTCATATGAAATTAATAT 0.323000 12 11 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 7 65 0 0 1 0 0 PDCL3 79031 broad.mit.edu 37 2 101182969 101182969 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:101182969C>T ENST00000264254.6 + 2 389 c.11C>T c.(10-12)cCc>cTc p.P4L NM_024065.4 NP_076970.1 Q9H2J4 PDCL3_HUMAN phosducin-like 3 4 apoptosis|interspecies interaction between organisms cytoplasm protein binding endometrium(3)|large_intestine(2)|liver(1)|lung(6) 12 TTCTAGGACCCCAACGCAGAC 0.507000 12 50 0 0 1 0 0 OR8J3 81168 broad.mit.edu 37 11 55905119 55905119 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:55905119G>A ENST00000301529.1 - 1 75 c.76C>T c.(76-78)Ccc>Tcc p.P26S NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) AGGAAGAGGGGAATCTGGAGC 0.493000 18 53 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179582510 179582510 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:179582510C>T ENST00000589042.1 - 87 25315 c.25091G>A c.(25090-25092)aGa>aAa p.R8364K TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R8047K|TTN_ENST00000342992.6_Missense_Mutation_p.R7120K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8047 Ig-like 66. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTCAGTTTTCTTGCAAAGAA 0.413000 8 27 0 0 1 0 0 CSF2RB 1439 broad.mit.edu 37 22 37334021 37334021 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:37334021G>A ENST00000262825.5 + 14 2406 c.2189G>A c.(2188-2190)gGg>gAg p.G730E CSF2RB_ENST00000536485.1_Missense_Mutation_p.G671E|CSF2RB_ENST00000406230.1_Missense_Mutation_p.G730E|CSF2RB_ENST00000403662.3_Missense_Mutation_p.G724E NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 724 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) CCAAACTCAGGGGCCTCGTCT 0.627000 45 50 0 0 1 0 0 GCG 2641 broad.mit.edu 37 2 163000606 163000606 + Missense_Mutation SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:163000606T>C ENST00000418842.2 - 5 721 c.467A>G c.(466-468)aAc>aGc p.N156S GCG_ENST00000375497.3_Missense_Mutation_p.N156S NM_002054.4 NP_002045.1 P01275 GLUC_HUMAN glucagon 156 cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion plasma membrane|soluble fraction hormone activity breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9) 14 Exenatide(DB01276)|Phentolamine(DB00692) AAGAATGGTGTTCATCTCATC 0.398000 9 44 0 0 1 0 0 OR1G1 8390 broad.mit.edu 37 17 3029915 3029915 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:3029915G>A ENST00000328890.2 - 1 960 c.931C>T c.(931-933)Cat>Tat p.H311Y NM_003555.1 NP_003546.1 P47890 OR1G1_HUMAN olfactory receptor, family 1, subfamily G, member 1 311 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(3)|skin(3) 11 TAAGGGGAATGAATTTTCCGA 0.423000 32 7 0 0 1 0 0 NELFA 7469 broad.mit.edu 37 4 1985646 1985646 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:1985646G>A ENST00000382882.3 - 9 2381 c.1264C>T c.(1264-1266)Ccg>Tcg p.P422S NELFA_ENST00000411638.1_Missense_Mutation_p.P411S|NELFA_ENST00000542778.1_Missense_Mutation_p.P276S NM_005663.4 NP_005654.3 negative elongation factor complex member A ATGGCAACCGGGGGTGTCTGA 0.682000 24 23 0 0 1 0 0 TRIM55 84675 broad.mit.edu 37 8 67064668 67064668 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:67064668G>A ENST00000315962.4 + 8 1415 c.1042G>A c.(1042-1044)Gaa>Aaa p.E348K TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000276573.7_Missense_Mutation_p.E348K|TRIM55_ENST00000353317.5_Missense_Mutation_p.E348K NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 348 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) aggagaaggagaagtgggagg 0.408000 9 13 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119976641 119976641 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:119976641C>T ENST00000313400.4 - 3 1111 c.1011G>A c.(1009-1011)aaG>aaA p.K337K ASTN2_ENST00000361209.2_Silent_p.K337K|ASTN2_ENST00000373996.3_Silent_p.K337K|ASTN2_ENST00000361477.3_5'UTR O75129 ASTN2_HUMAN astrotactin 2 337 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 ACTCACCTTTCTTCTCAAAGT 0.557000 73 58 0 0 1 0 0 RFX4 5992 broad.mit.edu 37 12 106995096 106995096 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:106995096G>A ENST00000357881.4 + 1 182 c.42G>A c.(40-42)agG>agA p.R14R RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000392842.1_Intron NM_001206691.1 NP_001193620.1 Q33E94 RFX4_HUMAN regulatory factor X, 4 (influences HLA class II expression) 0 transcription, DNA-dependent nucleus DNA binding NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1) 35 GAGGCGACAGGACCAGGCCTC 0.667000 3 1 0 0 1 0 0 TAT 6898 broad.mit.edu 37 16 71609891 71609891 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:71609891C>T ENST00000355962.4 - 3 407 c.274G>A c.(274-276)Gaa>Aaa p.E92K RP11-432I5.1_ENST00000561529.1_RNA NM_000353.2 NP_000344.1 P17735 ATTY_HUMAN tyrosine aminotransferase 92 2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3) 29 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) TGGGTAACTTCAGGGTCTGTA 0.493000 32 33 0 0 1 0 0 OR7A17 26333 broad.mit.edu 37 19 14991802 14991802 + Silent SNP C C G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:14991802C>G ENST00000327462.2 - 1 462 c.366G>C c.(364-366)cgG>cgC p.R122R NM_030901.1 NP_112163.1 O14581 OR7AH_HUMAN olfactory receptor, family 7, subfamily A, member 17 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 12 Ovarian(108;0.203) TGGCCACAAACCGATCATAGG 0.507000 16 29 0 0 1 0 0 AASS 10157 broad.mit.edu 37 7 121726102 121726102 + Silent SNP A A G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:121726102A>G ENST00000393376.1 - 18 2243 c.2148T>C c.(2146-2148)tcT>tcC p.S716S AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Silent_p.S716S Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase 716 Saccharopine dehydrogenase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 54 L-Glutamic Acid(DB00142)|NADH(DB00157) AAGTGTGAGCAGAAGAAATGC 0.403000 17 17 0 0 1 0 0 VIPR2 7434 broad.mit.edu 37 7 158935212 158935212 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:158935212C>T ENST00000262178.2 - 2 262 c.77G>A c.(76-78)cGa>cAa p.R26Q VIPR2_ENST00000402066.1_Missense_Mutation_p.R167Q|VIPR2_ENST00000421760.2_Missense_Mutation_p.R26Q NM_003382.4 NP_003373.2 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 26 cell-cell signaling integral to plasma membrane central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) CAGATGAAATCGGCATTCTGG 0.373000 15 71 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13914635 13914635 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:13914635C>T ENST00000265104.4 - 10 1418 c.1314G>A c.(1312-1314)ctG>ctA p.L438L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 438 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTACCTGTTTCAGTTTAATCG 0.313000 Kartagener syndrome 44 6 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9059611 9059611 + Nonsense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:9059611G>A ENST00000397910.4 - 3 28038 c.27835C>T c.(27835-27837)Caa>Taa p.Q9279* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9281 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GACTTTGTTTGAATCCTACTG 0.473000 40 33 0 0 1 0 0 DDX24 57062 broad.mit.edu 37 14 94526551 94526551 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:94526551G>A ENST00000330836.5 - 5 1937 c.1806C>T c.(1804-1806)cgC>cgT p.R602R DDX24_ENST00000555054.1_Silent_p.R559R|DDX24_ENST00000544005.1_Silent_p.R352R NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 602 Helicase C-terminal. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) GCCCAGAGAGGCGTTTGATGC 0.502000 21 46 0 0 1 0 0 C1S 716 broad.mit.edu 37 12 7169929 7169929 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:7169929C>T ENST00000406697.1 + 6 784 c.156C>T c.(154-156)ctC>ctT p.L52L C1S_ENST00000402681.3_Intron|C1S_ENST00000360817.5_Silent_p.L52L|C1S_ENST00000328916.3_Silent_p.L52L P09871 C1S_HUMAN complement component 1, s subcomponent 52 CUB 1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) GGATTCACCTCTACTTCACCC 0.463000 10 34 0 0 1 0 0 KPRP 448834 broad.mit.edu 37 1 152732545 152732545 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:152732545C>T ENST00000368773.1 + 2 539 c.481C>T c.(481-483)Cct>Tct p.P161S KPRP_ENST00000606109.1_Missense_Mutation_p.P161S NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 161 Gln-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) AGCTCCTCAGCCTGTCCAGAT 0.507000 22 136 0 0 1 0 0 SGCZ 137868 broad.mit.edu 37 8 13948115 13948115 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:13948115C>T ENST00000382080.1 - 8 1491 c.776G>A c.(775-777)gGa>gAa p.G259E SGCZ_ENST00000421524.2_Missense_Mutation_p.G212E NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 246 Poly-Ser. cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) TGGTAGATTTCCCAGCTTGAT 0.403000 24 35 0 0 1 0 0 AMER3 205147 broad.mit.edu 37 2 131520818 131520818 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:131520818C>T ENST00000423981.1 + 2 1283 c.1173C>T c.(1171-1173)ttC>ttT p.F391F AMER3_ENST00000321420.4_Silent_p.F391F 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 ATGATTCCTTCTCGCCAGGAC 0.622000 46 14 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19451432 19451432 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:19451432C>T ENST00000396229.2 + 3 821 c.72C>T c.(70-72)aaC>aaT p.N24N TMC5_ENST00000542583.2_Silent_p.N24N|TMC5_ENST00000541464.1_Silent_p.N24N|TMC5_ENST00000381414.4_Silent_p.N24N NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 24 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GGTCTCAGAACCGTACGCAGG 0.498000 25 38 0 0 1 0 0 AFF3 3899 broad.mit.edu 37 2 100171164 100171164 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:100171164G>A ENST00000317233.4 - 22 3551 c.3316C>T c.(3316-3318)Ccg>Tcg p.P1106S AFF3_ENST00000409579.1_Missense_Mutation_p.P1131S|AFF3_ENST00000409236.1_Missense_Mutation_p.P1106S|AFF3_ENST00000356421.2_Missense_Mutation_p.P1131S NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 1106 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 GCCCCCCACGGAGATGGGGCT 0.512000 34 10 0 0 1 0 0 ITPKB 3707 broad.mit.edu 37 1 226825421 226825421 + Nonsense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:226825421G>A ENST00000429204.1 - 7 2911 c.2584C>T c.(2584-2586)Cga>Tga p.R862* ITPKB_ENST00000272117.3_Nonsense_Mutation_p.R862* NM_002221.3 NP_002212.3 P27987 IP3KB_HUMAN inositol-trisphosphate 3-kinase B 862 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) AGAGTGGTTCGAATGGCCTTC 0.552000 OREG0014299 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 26 0 0 1 0 0 ITGAD 3681 broad.mit.edu 37 16 31422168 31422168 + Nonsense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:31422168G>A ENST00000389202.2 + 12 1374 c.1325G>A c.(1324-1326)tGg>tAg p.W442* NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 442 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 TCCAGGCAATGGAGGAAGAAG 0.652000 30 46 0 0 1 0 0 ZNF300P1 134466 broad.mit.edu 37 5 150310880 150310880 + RNA SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:150310880C>T ENST00000520773.1 - 0 2441 AGAATGCTTTCCCACATTCAG 0.418000 7 4 0 0 1 0 0 IL2RB 3560 broad.mit.edu 37 22 37528437 37528437 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:37528437C>T ENST00000216223.5 - 9 1088 c.890G>A c.(889-891)gGa>gAa p.G297E NM_000878.3 NP_000869.1 P14784 IL2RB_HUMAN interleukin 2 receptor, beta 297 interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5) 23 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) GACGTCTCCTCCATGCTCTGA 0.582000 19 9 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 31227664 31227664 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:31227664G>A ENST00000357033.4 - 65 9720 c.9514C>T c.(9514-9516)Cct>Tct p.P3172S DMD_ENST00000361471.4_Missense_Mutation_p.P104S|DMD_ENST00000474231.1_Missense_Mutation_p.P712S|DMD_ENST00000343523.2_Missense_Mutation_p.P712S|DMD_ENST00000541735.1_Missense_Mutation_p.P712S|DMD_ENST00000378707.3_Missense_Mutation_p.P712S|DMD_ENST00000378677.2_Missense_Mutation_p.P3168S|DMD_ENST00000359836.1_Missense_Mutation_p.P712S|DMD_ENST00000378702.4_Missense_Mutation_p.P104S|DMD_ENST00000378723.3_Missense_Mutation_p.P104S|DMD_ENST00000378680.2_Missense_Mutation_p.P104S NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 3172 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) ACGCAGAGAGGGACGTTGACC 0.458000 35 7 0 0 1 0 0 OXR1 55074 broad.mit.edu 37 8 107719106 107719106 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:107719106C>T ENST00000445937.1 + 9 1618 c.1357C>T c.(1357-1359)Ctt>Ttt p.L453F OXR1_ENST00000517566.2_Missense_Mutation_p.L453F|OXR1_ENST00000312046.6_Missense_Mutation_p.L446F|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000497705.1_Missense_Mutation_p.L386F|OXR1_ENST00000531443.1_Missense_Mutation_p.L453F|OXR1_ENST00000442977.2_Missense_Mutation_p.L454F NM_018002.3 NP_060472.2 Q8N573 OXR1_HUMAN oxidation resistance 1 454 cell wall macromolecule catabolic process|response to oxidative stress mitochondrion NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) GGATTCTTTTCTTCATGAGAA 0.358000 17 34 0 0 1 0 0 PDILT 204474 broad.mit.edu 37 16 20380832 20380832 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:20380832G>A ENST00000302451.4 - 8 1346 c.1098C>T c.(1096-1098)ttC>ttT p.F366F NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 366 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 TTTTACTCAGGAAGCTGCGGC 0.428000 64 81 0 0 1 0 0 MAP3K5 4217 broad.mit.edu 37 6 136923045 136923045 + Missense_Mutation SNP A A C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:136923045A>C ENST00000359015.4 - 20 3112 c.2752T>G c.(2752-2754)Tgt>Ggt p.C918G MAP3K5_ENST00000355845.4_Missense_Mutation_p.C165G NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 918 Protein kinase. activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) GGTTCAAAACATTTCAGTATG 0.398000 9 28 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23234557 23234557 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:23234557C>T ENST00000400191.3 + 12 2266 c.2248C>T c.(2248-2250)Cgc>Tgc p.R750C EPHB2_ENST00000374632.3_Missense_Mutation_p.R751C|EPHB2_ENST00000374627.1_Missense_Mutation_p.R745C|EPHB2_ENST00000374630.3_Missense_Mutation_p.R750C NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 750 Protein kinase. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) CCTGGCTGCCCGCAACATCCT 0.572000 18 120 0 0 1 0 0 OR51E2 81285 broad.mit.edu 37 11 4703402 4703402 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:4703402G>A ENST00000396950.3 - 2 779 c.540C>T c.(538-540)caC>caT p.H180H NM_030774.3 NP_110401.1 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, member 2 180 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) TTACATCCTGGTGGACACAAT 0.517000 30 32 0 0 1 0 0 KIF13B 23303 broad.mit.edu 37 8 28997622 28997622 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:28997622G>A ENST00000524189.1 - 21 2609 c.2571C>T c.(2569-2571)gtC>gtT p.V857V CTD-2647L4.1_ENST00000523661.1_RNA|CTD-2647L4.1_ENST00000517632.1_RNA NM_015254.3 NP_056069.2 Q9NQT8 KI13B_HUMAN kinesin family member 13B 857 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) TCTCAAAGGAGACCTCTGCCA 0.532000 7 7 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 71029628 71029628 + Nonsense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:71029628G>A ENST00000334414.6 - 2 318 c.274C>T c.(274-276)Cga>Tga p.R92* PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.R92*|PTPRB_ENST00000551525.1_Nonsense_Mutation_p.R91* NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 0 Fibronectin type-III 1. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CAGGTCCATCGGGGTGCCTGG 0.547000 8 4 0 0 1 0 0 RGS1 5996 broad.mit.edu 37 1 192548321 192548321 + Missense_Mutation SNP A A G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:192548321A>G ENST00000367459.3 + 5 565 c.499A>G c.(499-501)Acc>Gcc p.T167A NM_002922.3 NP_002913.3 Q08116 RGS1_HUMAN regulator of G-protein signaling 1 167 RGS. immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction cytoplasm|plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity kidney(8)|large_intestine(1)|lung(13) 22 Breast(1374;0.188) TAAAGCACCAACCCCCACGTG 0.348000 15 101 0 0 1 0 0 CYP4F8 11283 broad.mit.edu 37 19 15734183 15734183 + RNA SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:15734183G>A ENST00000441682.2 + 0 977 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 CCTGCTGAGCGAGGTGGGCCT 0.532000 26 21 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136562596 136562596 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:136562596C>T ENST00000264162.2 - 10 4215 c.4205G>A c.(4204-4206)gGa>gAa p.G1402E NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1402 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) AATGCTGAGTCCTTTGCCATC 0.473000 36 24 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50758484 50758484 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:50758484G>A ENST00000404971.1 - 12 3687 c.2348C>T c.(2347-2349)tCc>tTc p.S783F NRXN1_ENST00000406859.3_Missense_Mutation_p.S743F|NRXN1_ENST00000405472.3_Missense_Mutation_p.S735F|NRXN1_ENST00000401669.2_Missense_Mutation_p.S743F|NRXN1_ENST00000406316.2_Missense_Mutation_p.S743F|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.S735F NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 743 Laminin G-like 4. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GAACCGTAAGGAAACATCCTC 0.512000 15 5 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28540237 28540237 + Nonsense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:28540237C>T ENST00000452236.2 - 4 4046 c.3429G>A c.(3427-3429)tgG>tgA p.W1143* NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 1143 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 ttctgtttttccaagcttcta 0.303000 22 21 0 0 1 0 0 ITGA10 8515 broad.mit.edu 37 1 145537180 145537180 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:145537180C>T ENST00000369304.3 + 19 2526 c.2351C>T c.(2350-2352)cCc>cTc p.P784L ITGA10_ENST00000538811.1_Missense_Mutation_p.P653L|ITGA10_ENST00000539363.1_Missense_Mutation_p.P641L NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 784 cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTCCAGGTCCCCTTCTCAAAG 0.463000 72 25 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 121980750 121980750 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:121980750G>A ENST00000498619.1 + 4 1306 c.868G>A c.(868-870)Ggc>Agc p.G290S CASR_ENST00000490131.1_Missense_Mutation_p.G290S|CASR_ENST00000296154.5_Missense_Mutation_p.G290S NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 290 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CAATATCACGGGCAAGATCTG 0.567000 22 75 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201030572 201030572 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:201030572G>A ENST00000362061.3 - 25 3304 c.3078C>T c.(3076-3078)tcC>tcT p.S1026S CACNA1S_ENST00000367338.3_Silent_p.S1026S NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1026 Dihydropyridine binding (By similarity). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CCTCCGCATTGGAGTCTATGG 0.537000 16 56 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56487190 56487190 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:56487190C>T ENST00000267101.3 + 12 1776 c.1336C>T c.(1336-1338)Ctg>Ttg p.L446L ERBB3_ENST00000415288.2_Silent_p.L387L|ERBB3_ENST00000450146.2_Intron NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 446 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CTTCCGATCCCTGAAGGAAAT 0.493000 16 48 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 148080841 148080841 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:148080841C>T ENST00000361727.3 + 22 4092 c.3576C>T c.(3574-3576)gcC>gcT p.A1192A CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Silent_p.A251A NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 1192 Laminin G-like 4. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CTCTCAAGGCCGCCTTGAGGC 0.582000 HNSCC(39;0.1) 15 23 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175048720 175048720 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:175048720G>A ENST00000239462.4 + 3 774 c.661G>A c.(661-663)Gaa>Aaa p.E221K NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 221 EGF-like 2. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CCAGTGCCACGAAGACTTCAT 0.677000 11 2 0 0 1 0 0 BLNK 29760 broad.mit.edu 37 10 97956669 97956669 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:97956669C>T ENST00000224337.5 - 16 1387 c.1246G>A c.(1246-1248)Gaa>Aaa p.E416K BLNK_ENST00000413476.2_Intron|BLNK_ENST00000371176.2_Missense_Mutation_p.E393K|BLNK_ENST00000427367.2_Intron NM_013314.3 NP_037446.1 Q8WV28 BLNK_HUMAN B-cell linker 416 SH2. B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1) 14 Colorectal(252;0.083) Epithelial(162;7.89e-08)|all cancers(201;2.27e-06) CTGACCTCTTCACCATTTTTC 0.308000 21 8 0 0 1 0 0 ZNF215 7762 broad.mit.edu 37 11 6977574 6977574 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:6977574C>T ENST00000278319.5 + 7 1954 c.1366C>T c.(1366-1368)Cat>Tat p.H456Y ZNF215_ENST00000414517.2_Missense_Mutation_p.H456Y|ZNF215_ENST00000529903.1_Intron NM_013250.2 NP_037382.2 Q9UL58 ZN215_HUMAN zinc finger protein 215 456 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4) 32 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) TCCAACACTCCATTTTGGAAA 0.398000 20 20 0 0 1 0 0 PI3 5266 broad.mit.edu 37 20 43804674 43804674 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:43804674C>T ENST00000243924.3 + 2 299 c.252C>T c.(250-252)gcC>gcT p.A84A NM_002638.3 NP_002629.1 P19957 ELAF_HUMAN peptidase inhibitor 3, skin-derived 84 WAP. copulation proteinaceous extracellular matrix serine-type endopeptidase inhibitor activity large_intestine(1)|lung(5)|skin(1) 7 Myeloproliferative disorder(115;0.0122) TCCGGTGCGCCATGTTGAATC 0.512000 36 78 0 0 1 0 0 OR1B1 347169 broad.mit.edu 37 9 125390981 125390981 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:125390981C>T ENST00000304833.3 - 1 871 c.834G>A c.(832-834)atG>atA p.M278I RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA NM_001004450.1 NP_001004450.1 Q8NGR6 OR1B1_HUMAN olfactory receptor, family 1, subfamily B, member 1 278 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1) 16 CTGAAGCCACCATGTCCTGAT 0.502000 20 16 0 0 1 0 0 CYP8B1 1582 broad.mit.edu 37 3 42916049 42916049 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:42916049G>A ENST00000316161.4 - 1 1584 c.1260C>T c.(1258-1260)ttC>ttT p.F420F CYP8B1_ENST00000437102.1_Silent_p.F420F|ACKR2_ENST00000471537.1_Intron|KRBOX1_ENST00000426937.1_Intron NM_004391.2 NP_004382.2 Q9UNU6 CP8B1_HUMAN cytochrome P450, family 8, subfamily B, polypeptide 1 420 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5) 23 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) TGCCTGTCTTGAAGAAGTCCA 0.547000 38 86 0 0 1 0 0 DHX15 1665 broad.mit.edu 37 4 24543635 24543635 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:24543635G>A ENST00000336812.4 - 8 1502 c.1346C>T c.(1345-1347)cCt>cTt p.P449L NM_001358.2 NP_001349.2 O43143 DHX15_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 15 449 Helicase C-terminal. mRNA processing U12-type spliceosomal complex ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 30 Breast(46;0.0503) TCTGATTCGAGGATTGTAGAC 0.428000 7 18 0 0 1 0 0 PRDM10 56980 broad.mit.edu 37 11 129802083 129802083 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:129802083G>A ENST00000358825.5 - 10 1432 c.1201C>T c.(1201-1203)Cca>Tca p.P401S PRDM10_ENST00000423662.2_Missense_Mutation_p.P315S|PRDM10_ENST00000304538.6_Missense_Mutation_p.P315S|PRDM10_ENST00000360871.3_Missense_Mutation_p.P401S|PRDM10_ENST00000526082.1_Missense_Mutation_p.P315S|PRDM10_ENST00000528746.1_Missense_Mutation_p.P375S NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 401 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) CGTCGACCTGGACCGAATCGC 0.547000 13 27 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139153460 139153460 + Missense_Mutation SNP G G T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:139153460G>T ENST00000395297.1 - 17 3941 c.3771C>A c.(3769-3771)aaC>aaA p.N1257K NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1257 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CCAGGGTGCTGTTGTTGTACA 0.547000 HNSCC(54;0.14) 24 18 6.44725e-10 6.52002e-10 1 1 0 SLC38A3 10991 broad.mit.edu 37 3 50252157 50252157 + RNA SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:50252157G>A ENST00000420502.1 + 0 409 Q99624 S38A3_HUMAN solute carrier family 38, member 3 cellular nitrogen compound metabolic process|sodium ion transport integral to plasma membrane antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity breast(1)|cervix(1)|endometrium(1)|lung(3) 6 BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615) L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117) CGGCATCCTGGGACTCGCCTA 0.542000 9 16 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123427578 123427578 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:123427578C>T ENST00000360772.3 - 16 2485 c.2107G>A c.(2107-2109)Gag>Aag p.E703K MYLK_ENST00000475616.1_Missense_Mutation_p.E703K|MYLK_ENST00000360304.3_Missense_Mutation_p.E703K|MYLK_ENST00000359169.1_Missense_Mutation_p.E703K|MYLK_ENST00000346322.5_Missense_Mutation_p.E634K Q15746 MYLK_HUMAN myosin light chain kinase 703 Ig-like C2-type 5. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GTGCGGACCTCTCCAGCGCTG 0.597000 28 27 0 0 1 0 0 HSDL1 83693 broad.mit.edu 37 16 84163306 84163306 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:84163306G>A ENST00000219439.4 - 5 917 c.741C>T c.(739-741)atC>atT p.I247I HSDL1_ENST00000434463.3_Silent_p.I192I NM_001146051.1|NM_031463.4 NP_001139523.1|NP_113651.4 Q3SXM5 HSDL1_HUMAN hydroxysteroid dehydrogenase like 1 247 mitochondrion oxidoreductase activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 CATAGAAAGGGATTAGACTCT 0.463000 13 63 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57173805 57173805 + Silent SNP G G T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:57173805G>T ENST00000504228.1 + 3 330 c.225G>T c.(223-225)ctG>ctT p.L75L KIAA1211_ENST00000541073.1_Silent_p.L68L|KIAA1211_ENST00000264229.6_Silent_p.L75L Q6ZU35 K1211_HUMAN KIAA1211 75 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) ATCTGTTCCTGACCAGTCCCA 0.493000 18 7 1.56452e-12 1.58487e-12 1 1 0 COL5A3 50509 broad.mit.edu 37 19 10089914 10089914 + Splice_Site SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:10089914C>T ENST00000264828.3 - 39 2853 c.2766_splice c.e39-1 p.G923_splice NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 923 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) TCCTGTCTTTCCCTGGTGAGG 0.592000 32 16 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578263 7578263 + Nonsense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:7578263G>A ENST00000420246.2 - 6 718 c.586C>T c.(586-588)Cga>Tga p.R196* TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 196 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCTTCCACTCGGATAAGATGC 0.552000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 29 7 0 0 1 0 0 IGHV1-3 28473 broad.mit.edu 37 14 106471464 106471464 + RNA SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:106471464C>T ENST00000390595.2 - 0 174 AAGGTGTATCCAGAAGCCTTG 0.557000 16 114 0 0 1 0 0 OR5B12 390191 broad.mit.edu 37 11 58206937 58206937 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:58206937C>T ENST00000302572.2 - 1 709 c.688G>A c.(688-690)Gaa>Aaa p.E230K NM_001004733.2 NP_001004733.1 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, member 12 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1) 40 Esophageal squamous(5;0.0027) Breast(21;0.0778) TGGCGTCCTTCAGGTGAGCGC 0.403000 10 28 0 0 1 0 0 OPCML 4978 broad.mit.edu 37 11 132527066 132527066 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:132527066C>T ENST00000331898.7 - 2 894 c.316G>A c.(316-318)Gat>Aat p.D106N OPCML_ENST00000524381.1_Missense_Mutation_p.D99N|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000374778.4_Missense_Mutation_p.D65N|OPCML_ENST00000541867.1_Missense_Mutation_p.D106N NM_002545.3 NP_002536.1 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion molecule-like 106 Ig-like C2-type 1. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8) 47 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) TCATACACATCCACATTTTGG 0.502000 20 38 0 0 1 0 0 LRRC55 219527 broad.mit.edu 37 11 56949442 56949442 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:56949442C>T ENST00000497933.1 + 1 222 c.75C>T c.(73-75)tcC>tcT p.S25S NM_001005210.2 NP_001005210.1 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 0 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2) 25 CTCTCGATTCCATGGACACAG 0.607000 12 24 0 0 1 0 0 C20orf26 26074 broad.mit.edu 37 20 20177255 20177255 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:20177255C>T ENST00000245957.5 + 16 1708 c.1632C>T c.(1630-1632)ttC>ttT p.F544F C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 544 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) TTGAAGATTTCATCTACTTCA 0.448000 21 56 0 0 1 0 0 UBE2J2 118424 broad.mit.edu 37 1 1192649 1192649 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:1192649G>A ENST00000347370.2 - 4 531 c.58C>T c.(58-60)Cct>Tct p.P20S UBE2J2_ENST00000339385.6_Missense_Mutation_p.P37S|UBE2J2_ENST00000349431.6_Missense_Mutation_p.P72S|UBE2J2_ENST00000400930.4_Missense_Mutation_p.P88S|UBE2J2_ENST00000348298.7_Missense_Mutation_p.P20S|UBE2J2_ENST00000491779.1_5'UTR|UBE2J2_ENST00000360466.2_Missense_Mutation_p.P72S|UBE2J2_ENST00000400929.2_Missense_Mutation_p.P20S NM_194458.1 NP_919440.1 Q8N2K1 UB2J2_HUMAN ubiquitin-conjugating enzyme E2, J2 72 response to unfolded protein endoplasmic reticulum membrane|integral to membrane ATP binding|ubiquitin-protein ligase activity cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205) GGTTTGAAAGGAAATTCTCTG 0.507000 8 79 0 0 1 0 0 SLA 6503 broad.mit.edu 37 8 134072357 134072357 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:134072357G>A ENST00000338087.5 - 3 868 c.49C>T c.(49-51)Ccc>Tcc p.P17S SLA_ENST00000518565.1_5'UTR|TG_ENST00000377869.1_Intron|SLA_ENST00000427060.2_Missense_Mutation_p.P57S|SLA_ENST00000395352.3_Missense_Mutation_p.P34S|SLA_ENST00000524345.1_Intron|TG_ENST00000519543.1_Intron|TG_ENST00000542445.1_Intron|SLA_ENST00000517648.1_Missense_Mutation_p.P34S|TG_ENST00000220616.4_Intron NM_001045556.2 NP_001039021.1 Q13239 SLAP1_HUMAN Src-like-adaptor 17 endosome SH3/SH2 adaptor activity p.P17T(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1) 17 all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037) BRCA - Breast invasive adenocarcinoma(115;0.000701) TCCGGGTTGGGCAGGGGCCTC 0.577000 74 176 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183245273 183245273 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:183245273C>T ENST00000511685.1 + 2 223 c.100C>T c.(100-102)Cgg>Tgg p.R34W TENM3_ENST00000406950.2_Missense_Mutation_p.R34W teneurin transmembrane protein 3 p.R34W(1) TGAGGAGTGCCGGGTACCCAC 0.512000 5 31 0 0 1 0 0 ABCC6 368 broad.mit.edu 37 16 16248807 16248807 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:16248807C>T ENST00000205557.7 - 28 3993 c.3964G>A c.(3964-3966)Ggg>Agg p.G1322R NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 1322 ABC transporter 2. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) ATCCAGATCCCACCCTCAGCT 0.692000 5 2 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179621427 179621427 + Missense_Mutation SNP T T G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:179621427T>G ENST00000589042.1 - 46 11000 c.10776A>C c.(10774-10776)aaA>aaC p.K3592N TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.K3421N|TTN_ENST00000360870.5_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3278 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTGAGATATTTTGCTCTCCT 0.423000 8 49 0 0 1 0 0 C2orf71 388939 broad.mit.edu 37 2 29296798 29296798 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:29296798C>T ENST00000331664.5 - 1 329 c.330G>A c.(328-330)atG>atA p.M110I NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 110 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 TATCCTTAGCCATGTGGCTTT 0.468000 88 31 0 0 1 0 0 EZR 7430 broad.mit.edu 37 6 159192345 159192345 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:159192345G>A ENST00000367075.3 - 9 1058 c.890C>T c.(889-891)cCt>cTt p.P297L EZR_ENST00000392177.4_Missense_Mutation_p.P265L|EZR_ENST00000337147.7_Missense_Mutation_p.P297L NM_001111077.1 NP_001104547.1 P15311 EZRI_HUMAN ezrin 297 Interaction with SCYL3. actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane actin filament binding|cell adhesion molecule binding EZR/ROS1(4) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2) 15 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06) GATGGTGTCAGGCTTCCTGCG 0.592000 T ROS1 NSCLC 36 22 0 0 1 0 0 RPLP2 6181 broad.mit.edu 37 11 810284 810284 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:810284C>T ENST00000321153.4 + 2 444 c.50C>T c.(49-51)tCc>tTc p.S17F RPLP2_ENST00000532004.1_Intron|RPLP2_ENST00000530797.1_Missense_Mutation_p.S17F NM_001004.3 NP_000995.1 P05387 RLA2_HUMAN ribosomal protein, large, P2 17 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit RNA binding|structural constituent of ribosome lung(1) 1 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGCAACTCCTCCCCCAGCGCC 0.687000 18 27 0 0 1 0 0 LMX1A 4009 broad.mit.edu 37 1 165218847 165218847 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:165218847G>A ENST00000342310.3 - 4 676 c.294C>T c.(292-294)ttC>ttT p.F98F LMX1A_ENST00000294816.2_Silent_p.F98F|LMX1A_ENST00000367893.4_Silent_p.F98F NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 98 LIM zinc-binding 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CGATGGCCTCGAAGCAGCCCC 0.542000 14 21 0 0 1 0 0 LMAN2L 81562 broad.mit.edu 37 2 97403781 97403781 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:97403781G>A ENST00000264963.4 - 2 233 c.211C>T c.(211-213)Ctg>Ttg p.L71L LMAN2L_ENST00000537039.1_Intron|LMAN2L_ENST00000426463.2_5'UTR|LMAN2L_ENST00000534882.1_Intron|LMAN2L_ENST00000377079.4_Silent_p.L71L NM_030805.3 NP_110432.1 Q9H0V9 LMA2L_HUMAN lectin, mannose-binding 2-like 71 L-type lectin-like. ER to Golgi vesicle-mediated transport|protein folding|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane mannose binding|metal ion binding NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1) 7 AGATTCCACAGTGAGGAACTG 0.498000 21 5 0 0 1 0 0 CASS4 57091 broad.mit.edu 37 20 55028128 55028128 + Silent SNP G G A rs142247733 TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:55028128G>A ENST00000371336.3 + 5 2097 c.1896G>A c.(1894-1896)agG>agA p.R632R CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Silent_p.R632R NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 632 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 CTAAGCAAAGGGAAGATGAAC 0.408000 26 25 0 0 1 0 0 LYRM7 90624 broad.mit.edu 37 5 130506715 130506715 + Translation_Start_Site SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:130506715T>C ENST00000379380.4 + 1 213 c.2T>C c.(1-3)aTg>aCg p.M1T HINT1_ENST00000506207.1_Intron|LYRM7_ENST00000510516.1_Start_Codon_SNP_p.M1T|LYRM7_ENST00000507584.1_Start_Codon_SNP_p.M1T NM_181705.2 NP_859056.2 Q5U5X0 LYRM7_HUMAN LYR motif containing 7 1 upper_aerodigestive_tract(1) 1 all_cancers(142;0.0377)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AGGAGAGCCATGGGACGGGCA 0.617000 9 0 0 0 1 0 0 TMOD3 29766 broad.mit.edu 37 15 52179833 52179833 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr15:52179833G>A ENST00000308580.7 + 4 612 c.331G>A c.(331-333)Gaa>Aaa p.E111K RP11-56B16.5_ENST00000558142.1_RNA|TMOD3_ENST00000544199.1_Missense_Mutation_p.E111K NM_014547.4 NP_055362.1 Q9NYL9 TMOD3_HUMAN tropomodulin 3 (ubiquitous) 111 cytoplasm|cytoskeleton actin binding|tropomyosin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1) 14 all cancers(107;0.00194) TTTTACAGAAGAAAAAGTGTC 0.343000 48 13 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139160798 139160798 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:139160798C>T ENST00000395297.1 - 14 3583 c.3413G>A c.(3412-3414)gGa>gAa p.G1138E NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1138 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CAGGTGAATTCCATCTTCCAA 0.363000 HNSCC(54;0.14) 20 50 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31901557 31901557 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:31901557C>T ENST00000456570.1 + 3 482 c.427C>T c.(427-429)Cgc>Tgc p.R143C C2_ENST00000299367.5_Missense_Mutation_p.R205C|CFB_ENST00000477310.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.R205C|CFB_ENST00000556679.1_Missense_Mutation_p.R143C|C2_ENST00000442278.2_Missense_Mutation_p.R73C|C2_ENST00000452323.2_Missense_Mutation_p.R82C|C2_ENST00000469372.1_Silent_p.A36A P00751 CFAB_HUMAN complement factor B 219 Sushi 2. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 GCCCATCTGCCGCCGTGAGTA 0.642000 56 23 0 0 1 0 0 CEP72 55722 broad.mit.edu 37 5 639262 639262 + Missense_Mutation SNP T T G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:639262T>G ENST00000264935.5 + 8 1355 c.1265T>G c.(1264-1266)cTc>cGc p.L422R CEP72_ENST00000444221.1_3'UTR NM_018140.3 NP_060610.2 Q9P209 CEP72_HUMAN centrosomal protein 72kDa 422 G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization centrosome|cytosol autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 20 Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863) CAGGCGGCGCTCCTGGAGACG 0.642000 93 11 0 0 1 0 0 GPRC6A 222545 broad.mit.edu 37 6 117114040 117114040 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:117114040C>T ENST00000310357.3 - 6 2067 c.2046G>A c.(2044-2046)ctG>ctA p.L682L GPRC6A_ENST00000368549.3_Silent_p.L611L|GPRC6A_ENST00000530250.1_Silent_p.L507L NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 682 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) GCAAAATTTTCAGAGACTTCG 0.413000 23 16 0 0 1 0 0 IFNL3 282617 broad.mit.edu 37 19 39734519 39734519 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:39734519C>T ENST00000413851.2 - 4 475 c.437G>A c.(436-438)aGg>aAg p.R146K NM_172139.2 NP_742151.2 interferon, lambda 3 GCCCCGGGTCCTGGGCCCTGC 0.682000 10 25 0 0 1 0 0 STIM1 6786 broad.mit.edu 37 11 4112756 4112756 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:4112756C>T ENST00000300737.4 + 12 2355 c.1786C>T c.(1786-1788)Ctg>Ttg p.L596L STIM1_ENST00000533977.1_Silent_p.L423L|STIM1_ENST00000527651.1_3'UTR NM_003156.3 NP_003147.2 Q13586 STIM1_HUMAN stromal interaction molecule 1 596 activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule calcium ion binding|microtubule plus-end binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233) BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141) GGCCCACAGCCTGATGGAGCT 0.622000 16 54 0 0 1 0 0 EIF2S3 1968 broad.mit.edu 37 X 24089795 24089795 + Missense_Mutation SNP T T A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:24089795T>A ENST00000253039.4 + 10 1386 c.1133T>A c.(1132-1134)cTt>cAt p.L378H NM_001415.3 NP_001406.1 P41091 IF2G_HUMAN eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa 378 cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1) 12 TATTTCCTGCTTAGACGGCTT 0.433000 42 8 0 0 1 0 0 PDYN 5173 broad.mit.edu 37 20 1961130 1961130 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:1961130C>T ENST00000217305.2 - 4 829 c.604G>A c.(604-606)Gac>Aac p.D202N RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.D202N|PDYN_ENST00000540134.1_Missense_Mutation_p.D202N NM_001190892.1|NM_001190898.2|NM_024411.4 NP_001177821.1|NP_001177827.1|NP_077722.1 P01213 PDYN_HUMAN prodynorphin 202 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TTGTACAGGTCCTCATGGCCC 0.587000 50 140 0 0 1 0 0 PTGIS 5740 broad.mit.edu 37 20 48130862 48130862 + Missense_Mutation SNP A A T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:48130862A>T ENST00000244043.4 - 7 955 c.926T>A c.(925-927)gTc>gAc p.V309D PTGIS_ENST00000478971.1_5'UTR NM_000961.3 NP_000952.1 Q16647 PTGIS_HUMAN prostaglandin I2 (prostacyclin) synthase 309 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) Phenylbutazone(DB00812) CTCTCCGCGGACAGCAGCCAG 0.582000 26 56 0 0 1 0 0 PLXDC1 57125 broad.mit.edu 37 17 37264482 37264482 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:37264482C>T ENST00000315392.4 - 5 697 c.486G>A c.(484-486)ggG>ggA p.G162G PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000539608.1_Silent_p.G89G|PLXDC1_ENST00000394316.2_Silent_p.G162G|PLXDC1_ENST00000444911.2_Silent_p.G122G NM_020405.4 NP_065138.2 Q8IUK5 PXDC1_HUMAN plexin domain containing 1 162 angiogenesis cytoplasm|extracellular region|integral to membrane|tight junction kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 GGATCACGTCCCCCATGAAGA 0.572000 13 87 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92523157 92523157 + Nonsense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:92523157C>T ENST00000298047.6 + 7 4401 c.4384C>T c.(4384-4386)Cag>Tag p.Q1462* FAT3_ENST00000409404.2_Nonsense_Mutation_p.Q1462*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.Q1312* Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1462 Cadherin 14. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGAATTCTCTCAGCCGAATTA 0.413000 TCGA Ovarian(4;0.039) 17 41 0 0 1 0 0 NR1H2 7376 broad.mit.edu 37 19 50881477 50881477 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:50881477G>A ENST00000253727.5 + 5 488 c.253G>A c.(253-255)Gag>Aag p.E85K NR1H2_ENST00000598168.1_Missense_Mutation_p.E85K|NR1H2_ENST00000411902.2_Intron|NR1H2_ENST00000599105.1_Missense_Mutation_p.E85K|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000593926.1_Missense_Mutation_p.E85K NM_007121.5 NP_009052.3 P55055 NR1H2_HUMAN nuclear receptor subfamily 1, group H, member 2 85 negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2) 8 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) GCTGGGCCACGAGCTTTGCCG 0.622000 75 148 0 0 1 0 0 CHPF2 54480 broad.mit.edu 37 7 150935148 150935148 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:150935148G>A ENST00000035307.2 + 4 3213 c.1700G>A c.(1699-1701)cGa>cAa p.R567Q CHPF2_ENST00000495645.1_Missense_Mutation_p.R559Q NM_019015.1 NP_061888.1 Q9P2E5 CHPF2_HUMAN chondroitin polymerizing factor 2 567 Golgi cisterna membrane|integral to membrane N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3) 17 CTCGCTGTGCGAGCAGAGGCC 0.632000 25 25 0 0 1 0 0 SLC4A3 6508 broad.mit.edu 37 2 220505162 220505162 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:220505162C>T ENST00000358055.3 + 21 3800 c.3288C>T c.(3286-3288)atC>atT p.I1096I SLC4A3_ENST00000317151.3_Silent_p.I1096I|SLC4A3_ENST00000373762.3_Silent_p.I1123I|SLC4A3_ENST00000273063.6_Silent_p.I1123I|SLC4A3_ENST00000373760.2_Silent_p.I1096I P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 1096 Membrane (anion exchange). I -> M (in Ref. 2; AAB05850). bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCCTGTCCATCGTCATGGGGG 0.617000 17 74 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152469461 152469461 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:152469461G>A ENST00000367255.5 - 137 25296 c.24695C>T c.(24694-24696)tCt>tTt p.S8232F SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.S2756F|SYNE1_ENST00000354674.4_Missense_Mutation_p.S387F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S8161F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S8161F|SYNE1_ENST00000539504.1_Missense_Mutation_p.S387F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S8232F|SYNE1_ENST00000341594.5_Missense_Mutation_p.S7844F NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8232 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CAGAGCTGCAGAGTCTTCCAG 0.597000 HNSCC(10;0.0054) 16 21 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17053502 17053502 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:17053502G>A ENST00000418129.2 + 2 2751 c.2286G>A c.(2284-2286)aaG>aaA p.K762K PLCL2_ENST00000396755.2_Silent_p.K762K|PLCL2_ENST00000432376.1_Silent_p.K762K NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 888 C2. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 GAGGAGGAAAGCCTCATAAAA 0.468000 20 31 0 0 1 0 0 GIMAP2 26157 broad.mit.edu 37 7 150390074 150390074 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:150390074G>A ENST00000223293.5 + 3 794 c.700G>A c.(700-702)Gaa>Aaa p.E234K NM_015660.2 NP_056475.1 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 234 integral to membrane GTP binding kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGGATCAGATGAAAGAGTAAA 0.403000 24 26 0 0 1 0 0 MMEL1 79258 broad.mit.edu 37 1 2523050 2523050 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:2523050G>A ENST00000288709.6 - 23 2399 c.2159C>T c.(2158-2160)cCc>cTc p.P720L MMEL1_ENST00000378412.3_Missense_Mutation_p.P729L|MMEL1_ENST00000502556.1_Missense_Mutation_p.P572L NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 729 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) GGCGAACTCGGGCCGGTAGGA 0.642000 118 58 0 0 1 0 0 OR10S1 219873 broad.mit.edu 37 11 123847742 123847742 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:123847742G>A ENST00000531945.1 - 1 746 c.657C>T c.(655-657)atC>atT p.I219I NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CTGCAGCCACGATGCCAATGC 0.562000 21 23 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56363594 56363594 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:56363594G>A ENST00000301295.6 + 2 570 c.148G>A c.(148-150)Gca>Aca p.A50T NLRP4_ENST00000346986.5_Missense_Mutation_p.A50T NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 50 DAPIN. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GGTCAAAAAAGCATCCCGGGA 0.403000 18 19 0 0 1 0 0 MAP3K12 7786 broad.mit.edu 37 12 53879241 53879241 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:53879241G>A ENST00000267079.2 - 6 966 c.741C>T c.(739-741)gaC>gaT p.D247D MAP3K12_ENST00000547035.1_Silent_p.D280D|MAP3K12_ENST00000547488.1_Silent_p.D280D NM_001193511.1|NM_006301.3 NP_001180440.1|NP_006292.3 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 12 247 Protein kinase. histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 37 TCACCACATCGTCGTAGGTGA 0.522000 93 93 0 0 1 0 0 C3orf20 84077 broad.mit.edu 37 3 14724304 14724304 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:14724304C>T ENST00000253697.3 + 3 536 c.84C>T c.(82-84)ctC>ctT p.L28L C3orf20_ENST00000435614.1_Intron|C3orf20_ENST00000412910.1_Intron NM_032137.4 NP_115513.4 Q8ND61 CC020_HUMAN chromosome 3 open reading frame 20 28 cytoplasm|integral to membrane p.L28L(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 TCTCCAAACTCCTCATGATCT 0.473000 25 52 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 151127055 151127055 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:151127055C>T ENST00000474524.1 + 38 5778 c.5740C>T c.(5740-5742)Ctc>Ttc p.L1914F MED12L_ENST00000273432.4_Intron NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1914 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CCAGGCTGCTCTCTTTGCTGC 0.522000 50 41 0 0 1 0 0 EFEMP2 30008 broad.mit.edu 37 11 65637338 65637338 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:65637338G>A ENST00000307998.6 - 7 947 c.717C>T c.(715-717)ttC>ttT p.F239F EFEMP2_ENST00000528176.1_Silent_p.F239F NM_016938.4 NP_058634.4 O95967 FBLN4_HUMAN EGF containing fibulin-like extracellular matrix protein 2 239 EGF-like 4; calcium-binding (Potential). blood coagulation basement membrane|membrane calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 READ - Rectum adenocarcinoma(159;0.169) CACTGCAGGAGAAGCCATCCC 0.607000 38 39 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135427865 135427865 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:135427865C>T ENST00000394143.1 + 6 2291 c.2000C>T c.(1999-2001)tCt>tTt p.S667F GPR112_ENST00000394141.1_Missense_Mutation_p.S462F|GPR112_ENST00000370652.1_Missense_Mutation_p.S667F|GPR112_ENST00000287534.4_Missense_Mutation_p.S604F|GPR112_ENST00000412101.1_Missense_Mutation_p.S462F NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 667 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CTGCTGGCATCTATGAACACA 0.443000 50 8 0 0 1 0 0 IKZF3 22806 broad.mit.edu 37 17 37922292 37922292 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:37922292G>A ENST00000346872.3 - 8 1342 c.1281C>T c.(1279-1281)ctC>ctT p.L427L IKZF3_ENST00000439167.2_Silent_p.L354L|IKZF3_ENST00000351680.3_Silent_p.L388L|IKZF3_ENST00000535189.1_Silent_p.L393L|IKZF3_ENST00000439016.2_Silent_p.L332L|IKZF3_ENST00000467757.1_Silent_p.L371L|IKZF3_ENST00000377952.2_Silent_p.L206L|IKZF3_ENST00000377944.3_Silent_p.L284L|IKZF3_ENST00000394189.2_Silent_p.L245L|IKZF3_ENST00000377945.3_Silent_p.L293L|IKZF3_ENST00000583368.1_Silent_p.L180L|IKZF3_ENST00000346243.3_Silent_p.L349L|IKZF3_ENST00000377958.2_Silent_p.L340L|IKZF3_ENST00000350532.3_Silent_p.L388L NM_012481.4 NP_036613.2 Q9UKT9 IKZF3_HUMAN IKAROS family zinc finger 3 (Aiolos) 427 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) GGGGCTTGAGGAGTTCGTAAG 0.552000 92 19 0 0 1 0 0 OR13C3 138803 broad.mit.edu 37 9 107298474 107298474 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:107298474G>A ENST00000374781.2 - 1 663 c.621C>T c.(619-621)ttC>ttT p.F207F NM_001001961.1 NP_001001961.1 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, member 3 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 TTTCACATGCGAAATGATTGA 0.428000 31 35 0 0 1 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058866 152058866 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:152058866C>T ENST00000368806.1 - 3 1356 c.1292G>A c.(1291-1293)gGa>gAa p.G431E NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 431 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) TTTTGATAATCCTTGGAGTTC 0.463000 25 160 0 0 1 0 0 MET 4233 broad.mit.edu 37 7 116435843 116435843 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:116435843C>T ENST00000397752.3 + 20 4133 c.3933C>T c.(3931-3933)ccC>ccT p.P1311P MET_ENST00000539704.1_Silent_p.P181P|MET_ENST00000318493.6_Silent_p.P1329P NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 1311 Interaction with RANBP9.|Protein kinase. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) GCCCAGACCCCTTGTAAGTAG 0.428000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) OREG0003446 type=REGULATORY REGION|Gene=MET|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 71 68 0 0 1 0 0 NEURL2 140825 broad.mit.edu 37 20 44519264 44519264 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:44519264G>A ENST00000372518.4 - 1 662 c.367C>T c.(367-369)Ccc>Tcc p.P123S NM_001278535.1|NM_080749.2 NP_001265464.1|NP_542787.1 Q9BR09 NEUL2_HUMAN neuralized E3 ubiquitin protein ligase 2 123 NHR. intracellular signal transduction large_intestine(1)|lung(2) 3 Myeloproliferative disorder(115;0.0122) CCCTCCCGGGGCACGCGGTTG 0.687000 12 53 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133218812 133218812 + Silent SNP G G A rs114891564 byFrequency TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:133218812G>A ENST00000320574.5 - 38 5167 c.5124C>T c.(5122-5124)ttC>ttT p.F1708F POLE_ENST00000535270.1_Silent_p.F1681F NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1708 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) CTTGGTCATCGAACTCCATGA 0.587000 DNA polymerases (catalytic subunits) 26 42 0 0 1 0 0 LPL 4023 broad.mit.edu 37 8 19811727 19811727 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:19811727C>T ENST00000311322.8 + 5 1108 c.638C>T c.(637-639)aCc>aTc p.T213I NM_000237.2 NP_000228.1 P06858 LIPL_HUMAN lipoprotein lipase 213 fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083) CACACATTCACCAGAGGGTCC 0.483000 38 50 0 0 1 0 0 PRPF40B 25766 broad.mit.edu 37 12 50036417 50036417 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:50036417G>A ENST00000261897.1 + 20 2523 c.1972G>A c.(1972-1974)Gag>Aag p.E658K PRPF40B_ENST00000548825.2_Missense_Mutation_p.E693K|FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000380281.1_Missense_Mutation_p.E671K Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 671 mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 CCTGGAGTCGGAGCGGATCCG 0.577000 11 9 0 0 1 0 0 CD33 945 broad.mit.edu 37 19 51742905 51742905 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:51742905G>A ENST00000262262.4 + 7 1078 c.1057G>A c.(1057-1059)Gac>Aac p.D353N CD33_ENST00000600557.1_3'UTR|CD33_ENST00000421133.2_Missense_Mutation_p.D226N NM_001772.3 NP_001763.3 P20138 CD33_HUMAN CD33 molecule 353 cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1) 24 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) TCCTTCCAAGGACACCTCCAC 0.532000 7 21 0 0 1 0 0 NPHS1 4868 broad.mit.edu 37 19 36339976 36339976 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:36339976G>A ENST00000378910.5 - 8 913 c.914C>T c.(913-915)aCc>aTc p.T305I NPHS1_ENST00000353632.6_Missense_Mutation_p.T305I NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 305 Ig-like C2-type 3. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TGGCCTCACGGTCATCACCAG 0.662000 17 47 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33564060 33564060 + Silent SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:33564060T>C ENST00000321505.4 + 1 240 c.60T>C c.(58-60)gtT>gtC p.V20V KIAA1549L_ENST00000265654.5_Silent_p.V20V|KIAA1549L_ENST00000389726.3_Silent_p.V20V KIAA1549-like ATCTAGGTGTTTCTGGATCCT 0.493000 8 20 0 0 1 0 0 GPR39 2863 broad.mit.edu 37 2 133175423 133175423 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:133175423G>A ENST00000329321.3 + 1 1277 c.808G>A c.(808-810)Gag>Aag p.E270K NM_001508.2 NP_001499.1 O43194 GPR39_HUMAN G protein-coupled receptor 39 270 integral to plasma membrane G-protein coupled receptor activity|metal ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GAGGAAGTCCGAGAGCGAAGA 0.617000 15 79 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179659141 179659141 + Silent SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:179659141T>C ENST00000589042.1 - 8 1607 c.1383A>G c.(1381-1383)caA>caG p.Q461Q TTN_ENST00000460472.2_Silent_p.Q461Q|TTN_ENST00000342175.6_Silent_p.Q461Q|TTN_ENST00000360870.5_Silent_p.Q461Q|TTN_ENST00000359218.5_Silent_p.Q461Q|TTN_ENST00000591111.1_Silent_p.Q461Q|TTN_ENST00000342992.6_Silent_p.Q461Q NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 461 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTGAGCAGGTTGGATGTGCA 0.557000 140 64 0 0 1 0 0 CORO7 79585 broad.mit.edu 37 16 4411249 4411249 + Splice_Site SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:4411249G>A ENST00000251166.4 - 18 1833 c.1687_splice c.e18-1 p.A563_splice CORO7_ENST00000423908.2_3'UTR|CORO7_ENST00000537233.2_Splice_Site_p.A545_splice|CORO7_ENST00000574025.1_Splice_Site_p.A478_splice|CORO7_ENST00000539968.1_Splice_Site_p.A343_splice|CORO7-PAM16_ENST00000572467.1_Splice_Site_p.A563_splice NM_024535.4 NP_078811.3 coronin 7 breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2) 23 GTCCTCACCAGCTGCAGAGGA 0.657000 14 16 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73072090 73072090 + RNA SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:73072090G>A ENST00000429829.1 - 0 498 NR_001564.2 ATGGGCTAAGGAAAAAAAAAT 0.468000 7 0 0 0 1 0 0 GAL3ST3 89792 broad.mit.edu 37 11 65811070 65811070 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:65811070G>A ENST00000312006.4 - 3 485 c.204C>T c.(202-204)ttC>ttT p.F68F GAL3ST3_ENST00000527878.1_Silent_p.F68F NM_033036.2 NP_149025.1 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 68 monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity kidney(1)|lung(9)|ovary(2)|skin(2) 14 GAGTCTTCAGGAAGGCCACAG 0.657000 9 14 0 0 1 0 0 FUT3 2525 broad.mit.edu 37 19 5844504 5844504 + Missense_Mutation SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:5844504T>C ENST00000303225.6 - 3 981 c.347A>G c.(346-348)aAc>aGc p.N116S FUT3_ENST00000589620.1_Missense_Mutation_p.N116S|FUT3_ENST00000589918.1_Missense_Mutation_p.N116S|FUT3_ENST00000458379.2_Missense_Mutation_p.N116S NM_000149.3 NP_000140.1 P21217 FUT3_HUMAN fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) 116 protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 TGACTTAGGGTTGGACATGAT 0.627000 48 38 0 0 1 0 0 P2RY12 64805 broad.mit.edu 37 3 151056103 151056103 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:151056103G>A ENST00000302632.3 - 3 830 c.531C>T c.(529-531)ttC>ttT p.F177F MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron NM_022788.4|NM_176876.2 NP_073625.1|NP_795345.1 Q9H244 P2Y12_HUMAN purinergic receptor P2Y, G-protein coupled, 12 177 platelet activation integral to membrane|plasma membrane guanyl-nucleotide exchange factor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1) 17 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374) CTGATTTAAGGAAAGAGCATT 0.368000 36 30 0 0 1 0 0 PROM2 150696 broad.mit.edu 37 2 95947735 95947735 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:95947735G>A ENST00000317620.9 + 13 1747 c.1614G>A c.(1612-1614)agG>agA p.R538R PROM2_ENST00000542147.1_Silent_p.R538R|PROM2_ENST00000317668.4_Silent_p.R538R|PROM2_ENST00000403131.2_Silent_p.R538R NM_001165978.1 NP_001159450.1 Q8N271 PROM2_HUMAN prominin 2 538 apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 32 TTGGCCTGAGGAAGAACATCA 0.617000 12 65 0 0 1 0 0 LGSN 51557 broad.mit.edu 37 6 63990209 63990209 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:63990209G>A ENST00000370657.4 - 4 1280 c.1247C>T c.(1246-1248)cCt>cTt p.P416L LGSN_ENST00000370658.5_3'UTR Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 416 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) CACCAAGTAAGGGTTTGCTGT 0.448000 26 77 0 0 1 0 0 ACSM5 54988 broad.mit.edu 37 16 20422901 20422901 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:20422901C>T ENST00000331849.4 + 2 242 c.95C>T c.(94-96)cCt>cTt p.P32L ACSM5_ENST00000575584.1_Missense_Mutation_p.P32L NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 32 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 CTACCTGTTCCTCAGAAGATC 0.577000 15 26 0 0 1 0 0 DBH 1621 broad.mit.edu 37 9 136513099 136513099 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:136513099C>T ENST00000393056.2 + 6 1168 c.1156C>T c.(1156-1158)Ctc>Ttc p.L386F NM_000787.3 NP_000778.3 P09172 DOPO_HUMAN dopamine beta-hydroxylase (dopamine beta-monooxygenase) 386 hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) CGCCTTCATCCTCACTGGCTA 0.657000 10 10 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 463569 463569 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:463569G>A ENST00000432829.2 + 47 6233 c.5917G>A c.(5917-5919)Gaa>Aaa p.E1973K DOCK8_ENST00000469391.1_Missense_Mutation_p.E1941K|RP11-165F24.3_ENST00000592805.1_RNA|RP11-165F24.3_ENST00000591577.1_RNA|RP11-165F24.3_ENST00000593137.1_RNA|RP11-165F24.3_ENST00000588474.1_RNA|DOCK8_ENST00000453981.1_Missense_Mutation_p.E2041K|RP11-165F24.3_ENST00000589387.1_RNA|RP11-165F24.3_ENST00000590518.1_RNA|RP11-165F24.3_ENST00000588989.1_RNA|RP11-165F24.3_ENST00000589287.1_RNA|DOCK8_ENST00000382329.1_Missense_Mutation_p.E1508K|RP11-165F24.3_ENST00000586805.1_RNA|RP11-165F24.3_ENST00000415004.2_RNA|RP11-165F24.3_ENST00000585819.1_RNA NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 2041 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) AGACCAGAGGGAATATCAGCA 0.413000 10 34 0 0 1 0 0 CNIH3 149111 broad.mit.edu 37 1 224868683 224868683 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:224868683G>A ENST00000272133.3 + 2 987 c.105G>A c.(103-105)agG>agA p.R35R NM_152495.1 NP_689708.1 Q8TBE1 CNIH3_HUMAN cornichon family AMPA receptor auxiliary protein 3 35 intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane large_intestine(5)|lung(4) 9 Breast(184;0.218) GBM - Glioblastoma multiforme(131;0.073) ATGAGTTAAGGACAGATTTTA 0.488000 63 30 0 0 1 0 0 GPRC6A 222545 broad.mit.edu 37 6 117127942 117127942 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:117127942G>A ENST00000310357.3 - 3 947 c.926C>T c.(925-927)aCc>aTc p.T309I GPRC6A_ENST00000368549.3_Missense_Mutation_p.T309I|GPRC6A_ENST00000530250.1_Intron NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 309 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) GGTAATCTTGGTGGCAGTTGA 0.343000 11 46 0 0 1 0 0 OR4A16 81327 broad.mit.edu 37 11 55110948 55110948 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:55110948C>T ENST00000314721.2 + 1 322 c.272C>T c.(271-273)tCc>tTc p.S91F NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 ATCGCTATTTCCTTGTCAGCT 0.438000 75 54 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28766121 28766121 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:28766121C>T ENST00000422425.2 + 14 999 c.955C>T c.(955-957)Ctc>Ttc p.L319F PLB1_ENST00000327757.5_Missense_Mutation_p.L308F NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 308 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) GGCCTGGCATCTCTGGAATAG 0.612000 13 4 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7584639 7584639 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:7584639G>A ENST00000379802.3 + 24 7485 c.7144G>A c.(7144-7146)Gag>Aag p.E2382K DSP_ENST00000418664.2_Missense_Mutation_p.E1783K NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2382 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TGACCCAAAGGAGAGCCATCG 0.448000 45 15 0 0 1 0 0 GMEB1 10691 broad.mit.edu 37 1 29030840 29030840 + Splice_Site SNP A A T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:29030840A>T ENST00000373816.1 + 8 1005 c.868_splice c.e8+1 p.T289_splice GMEB1_ENST00000361872.4_Splice_Site_p.T289_splice|GMEB1_ENST00000294409.2_Splice_Site_p.T299_splice|GMEB1_ENST00000480454.1_3'UTR NM_024482.2 NP_077808.1 Q9Y692 GMEB1_HUMAN glucocorticoid modulatory element binding protein 1 299 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|metal ion binding|transcription coactivator activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4) 11 Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) TCCAAGTCACAGGTAAGTGCA 0.468000 3 51 0 0 1 0 0 SH2D2A 9047 broad.mit.edu 37 1 156786498 156786498 + Translation_Start_Site SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:156786498C>T ENST00000392306.2 - 1 142 c.3G>A c.(1-3)atG>atA p.M1I SH2D2A_ENST00000368199.3_Start_Codon_SNP_p.M1I|NTRK1_ENST00000392302.2_Intron|SH2D2A_ENST00000368198.3_5'UTR|SH2D2A_ENST00000495306.1_5'UTR NM_001161441.1 NP_001154913.1 Q9NP31 SH22A_HUMAN SH2 domain containing 2A 1 angiogenesis|cell differentiation|signal transduction cytoplasm|soluble fraction SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|large_intestine(2)|lung(15) 18 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GGGGGAACTCCATGAGGGCAG 0.582000 8 58 0 0 1 0 0 ATG2B 55102 broad.mit.edu 37 14 96773201 96773201 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:96773201G>A ENST00000359933.4 - 30 5249 c.4356C>T c.(4354-4356)ttC>ttT p.F1452F ATG2B_ENST00000261834.5_5'UTR NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 1452 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) CAGGAAACAGGAAGAGGTCTG 0.433000 17 11 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 129566552 129566552 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:129566552C>T ENST00000422113.2 - 7 2001 c.1675G>A c.(1675-1677)Gag>Aag p.E559K TMEM132D_ENST00000389441.4_Missense_Mutation_p.E97K NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 559 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TCATCATCCTCCTCCTCTTCA 0.642000 13 45 0 0 1 0 0 C5orf20 140947 broad.mit.edu 37 5 134782469 134782469 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:134782469C>T ENST00000503143.2 - 1 569 c.330G>A c.(328-330)caG>caA p.Q110Q TIFAB_ENST00000537858.1_3'UTR NM_130848.2 NP_570900.1 Q8TF63 DCNP1_HUMAN chromosome 5 open reading frame 20 110 nucleus endometrium(1)|lung(1)|prostate(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GCAGTTCATCCTGGGTCCCTG 0.572000 50 18 0 0 1 0 0 AADACL4 343066 broad.mit.edu 37 1 12711223 12711223 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:12711223G>A ENST00000376221.1 + 2 250 c.250G>A c.(250-252)Gac>Aac p.D84N NM_001013630.1 NP_001013652.1 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 84 integral to membrane carboxylesterase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) AATTAAAAAGGACCCTGAACT 0.483000 15 108 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32774474 32774474 + Missense_Mutation SNP C C T rs11540648 TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:32774474C>T ENST00000421745.2 + 65 13204 c.13070C>T c.(13069-13071)cCt>cTt p.P4357L NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 4357 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) AATGCCCTTCCTTCTGTACTT 0.443000 32 47 0 0 1 0 0 PRRX1 5396 broad.mit.edu 37 1 170699465 170699465 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:170699465G>A ENST00000367760.3 + 4 1732 c.647G>A c.(646-648)gGa>gAa p.G216E PRRX1_ENST00000239461.6_Intron|PRRX1_ENST00000476867.2_Intron NM_006902.3 NP_008833.1 P54821 PRRX1_HUMAN paired related homeobox 1 0 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity large_intestine(2)|ovary(1) 3 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CTTCATAACGGATTCTAACGG 0.453000 31 177 0 0 1 0 0 ZNF573 126231 broad.mit.edu 37 19 38262267 38262267 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:38262267G>A ENST00000590414.2 - 2 160 c.139C>T c.(139-141)Cct>Tct p.P47S ZNF573_ENST00000536220.1_5'UTR|ZNF573_ENST00000357309.3_Intron|ZNF573_ENST00000339503.4_5'UTR|ZNF573_ENST00000585724.1_Intron|ZNF573_ENST00000392138.1_5'UTR Q86YE8 ZN573_HUMAN zinc finger protein 573 27 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) CTCTGATTAGGGTCCAGGTAT 0.403000 9 18 0 0 1 0 0 ZNF662 389114 broad.mit.edu 37 3 42956430 42956430 + Missense_Mutation SNP A A C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:42956430A>C ENST00000541208.1 + 5 1234 c.865A>C c.(865-867)Aca>Cca p.T289P ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000440367.2_Missense_Mutation_p.T289P|ZNF662_ENST00000328199.6_Missense_Mutation_p.T315P|KRBOX1_ENST00000426937.1_Intron Q6ZS27 ZN662_HUMAN zinc finger protein 662 289 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.217) TAGTCAGAACACAAGCCTTAC 0.453000 5 22 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78211645 78211645 + RNA SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr15:78211645G>A ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA GGGCGCCAGGGATAGGGGCTC 0.522000 34 3 0 0 1 0 0 CEP350 9857 broad.mit.edu 37 1 180017711 180017711 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:180017711C>T ENST00000367607.3 + 22 5081 c.4663C>T c.(4663-4665)Cca>Tca p.P1555S NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 1555 Ser-rich. centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 TCCTTCAGTTCCATCTTGTAA 0.373000 31 12 0 0 1 0 0 RHPN2 85415 broad.mit.edu 37 19 33499063 33499063 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:33499063G>A ENST00000254260.3 - 7 652 c.617C>T c.(616-618)cCg>cTg p.P206L RHPN2_ENST00000400226.4_Missense_Mutation_p.P55L NM_033103.4 NP_149094.3 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 206 BRO1. signal transduction perinuclear region of cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) CTGGCTGACCGGAACCCCGGT 0.498000 6 11 0 0 1 0 0 TAOK2 9344 broad.mit.edu 37 16 29996879 29996879 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:29996879C>T ENST00000308893.4 + 14 2811 c.1768C>T c.(1768-1770)Cgc>Tgc p.R590C TAOK2_ENST00000279394.3_Missense_Mutation_p.R590C|TAOK2_ENST00000543033.1_Missense_Mutation_p.R590C|TAOK2_ENST00000416441.2_Missense_Mutation_p.R417C NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 590 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CTACAAACTTCGCAAGGAACA 0.642000 14 27 0 0 1 0 0 NXPE2 120406 broad.mit.edu 37 11 114568828 114568828 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:114568828C>T ENST00000375475.5 + 3 292 c.194C>T c.(193-195)tCa>tTa p.S65L NXPE2_ENST00000389586.4_Missense_Mutation_p.S65L neurexophilin and PC-esterase domain family, member 2 AAAAAATATTCACACTCTGAA 0.378000 6 8 0 0 1 0 0 GBF1 8729 broad.mit.edu 37 10 104130480 104130480 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:104130480G>A ENST00000369983.3 + 29 3780 c.3520G>A c.(3520-3522)Gtg>Atg p.V1174M NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 1174 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) TGTGGGCTGTGTGTGGCAGAC 0.552000 58 14 0 0 1 0 0 SMPDL3B 27293 broad.mit.edu 37 1 28285118 28285118 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:28285118G>A ENST00000373894.3 + 8 1328 c.1137G>A c.(1135-1137)ctG>ctA p.L379L RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000549094.1_Silent_p.L331L NM_014474.2 NP_055289.2 Q92485 ASM3B_HUMAN sphingomyelin phosphodiesterase, acid-like 3B 379 sphingomyelin catabolic process extracellular space hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 16 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055) ACACAGTGCTGGACCGCATCG 0.647000 93 28 0 0 1 0 0 DBX2 440097 broad.mit.edu 37 12 45417512 45417512 + Missense_Mutation SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:45417512T>C ENST00000332700.6 - 3 836 c.665A>G c.(664-666)aAc>aGc p.N222S NM_001004329.2 NP_001004329.2 Q6ZNG2 DBX2_HUMAN developing brain homeobox 2 222 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 22 Lung SC(27;0.192) Lung NSC(34;0.142) GBM - Glioblastoma multiforme(48;0.0515) TAGTCCCAAGTTGATGGCAAG 0.413000 57 141 0 0 1 0 0 NUGGC 389643 broad.mit.edu 37 8 27880848 27880848 + Missense_Mutation SNP C C G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:27880848C>G ENST00000413272.2 - 19 2519 c.2377G>C c.(2377-2379)Ggg>Cgg p.G793R NUGGC_ENST00000341513.6_Missense_Mutation_p.G793R NM_001010906.1 NP_001010906.1 nuclear GTPase, germinal center associated AGTGATGTCCCGGGGGGGCCA 0.527000 16 13 0 0 1 0 0 LGALS12 85329 broad.mit.edu 37 11 63283158 63283158 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:63283158C>T ENST00000415491.2 + 7 1268 c.654C>T c.(652-654)ttC>ttT p.F218F LGALS12_ENST00000425950.2_Silent_p.F209F|LGALS12_ENST00000255684.5_Silent_p.F270F|LGALS12_ENST00000394618.3_Silent_p.F279F|LGALS12_ENST00000340246.5_Silent_p.F280F NM_001142537.1 NP_001136009.1 Q96DT0 LEG12_HUMAN lectin, galactoside-binding, soluble, 12 279 Galectin 2. apoptosis|induction of apoptosis by intracellular signals nucleus lactose binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 16 CAGCCCCCTTCCTCTTTTACC 0.552000 4 20 0 0 1 0 0 CA6 765 broad.mit.edu 37 1 9031030 9031030 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:9031030C>T ENST00000377443.2 + 7 838 c.834C>T c.(832-834)ttC>ttT p.F278F CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377442.2_Silent_p.F218F|CA6_ENST00000377436.3_Silent_p.F278F NM_001215.3 NP_001206.2 P23280 CAH6_HUMAN carbonic anhydrase VI 278 one-carbon metabolic process extracellular region carbonate dehydratase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5) 16 Ovarian(185;0.112)|all_lung(157;0.143) all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649) AATCCAACTTCCCGAATCAGG 0.507000 16 80 0 0 1 0 0 ACOX3 8310 broad.mit.edu 37 4 8416601 8416601 + Nonsense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:8416601G>A ENST00000356406.5 - 4 510 c.433C>T c.(433-435)Caa>Taa p.Q145* ACOX3_ENST00000503233.1_Nonsense_Mutation_p.Q145*|ACOX3_ENST00000413009.2_Nonsense_Mutation_p.Q145* NM_003501.2 NP_003492.2 O15254 ACOX3_HUMAN acyl-CoA oxidase 3, pristanoyl 145 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1) 42 AAGATCTTTTGAATATATGTG 0.398000 28 24 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179443758 179443758 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:179443758G>A ENST00000589042.1 - 320 68223 c.67999C>T c.(67999-68001)Cct>Tct p.P22667S TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P13602S|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P13794S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P13727S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P21026S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P20099S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 21026 Fibronectin type-III 64. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCCTTTGGAGGAGCCCACTTT 0.478000 27 19 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152514605 152514605 + Splice_Site SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:152514605C>T ENST00000427231.2 - 48 6278 c.e48-1 NEB_ENST00000409198.1_Splice_Site|NEB_ENST00000603639.1_Splice_Site|NEB_ENST00000397345.3_Splice_Site|NEB_ENST00000604864.1_Splice_Site|NEB_ENST00000172853.10_Splice_Site NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TGTAGAGTTTCTGTAAAGAGA 0.368000 4 7 0 0 1 0 0 BICD2 23299 broad.mit.edu 37 9 95481455 95481455 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:95481455G>A ENST00000356884.6 - 5 1539 c.1472C>T c.(1471-1473)gCc>gTc p.A491V BICD2_ENST00000375512.3_Missense_Mutation_p.A491V NM_001003800.1 NP_001003800.1 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 (Drosophila) 491 microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 CTGGCGGCTGGCCTTCTCTAG 0.677000 42 32 0 0 1 0 0 GLDC 2731 broad.mit.edu 37 9 6558609 6558609 + Missense_Mutation SNP C C A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:6558609C>A ENST00000321612.6 - 17 2152 c.2002G>T c.(2002-2004)Gtg>Ttg p.V668L GLDC_ENST00000460457.1_5'UTR NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 668 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) TCCACCTCCACAGGCTGAATC 0.507000 64 67 1.12612e-26 1.14855e-26 1 1 0 OGG1 4968 broad.mit.edu 37 3 9793535 9793535 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:9793535C>T ENST00000302036.7 + 3 810 c.467C>T c.(466-468)aCt>aTt p.T156I OGG1_ENST00000302003.7_Missense_Mutation_p.T156I|OGG1_ENST00000339511.5_Missense_Mutation_p.T156I|OGG1_ENST00000344629.7_Missense_Mutation_p.T156I|OGG1_ENST00000383826.5_Missense_Mutation_p.T156I|OGG1_ENST00000302008.8_Missense_Mutation_p.T156I|OGG1_ENST00000449570.2_Missense_Mutation_p.T156I|OGG1_ENST00000349503.5_Missense_Mutation_p.T156I NM_016821.2 NP_058214.1 O15527 OGG1_HUMAN 8-oxoguanine DNA glycosylase 156 depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation mitochondrion|nuclear matrix|nuclear speck damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1) 8 Medulloblastoma(99;0.227) GCCCGCATCACTGGCATGGTG 0.567000 Base excision repair (BER), DNA glycosylases 65 46 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54806647 54806647 + Missense_Mutation SNP C C T rs145623856 TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:54806647C>T ENST00000306858.7 + 5 2994 c.2878C>T c.(2878-2880)Cgc>Tgc p.R960C NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 960 p.R960C(1) autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) CAGTATAAATCGCCCAGAAAT 0.413000 5 39 0 0 1 0 0 OR4D5 219875 broad.mit.edu 37 11 123810636 123810636 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:123810636C>T ENST00000307033.2 + 1 387 c.313C>T c.(313-315)Cac>Tac p.H105Y NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 105 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CTTCTTCTTCCACTTCATTGG 0.493000 35 30 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39013705 39013705 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:39013705G>A ENST00000355481.4 + 68 10428 c.10297G>A c.(10297-10299)Gag>Aag p.E3433K RYR1_ENST00000359596.3_Missense_Mutation_p.E3433K|RYR1_ENST00000360985.3_Missense_Mutation_p.E3433K NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3433 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CAGCGCGGAGGAGCTGTTCAG 0.682000 12 24 0 0 1 0 0 SH2B3 10019 broad.mit.edu 37 12 111855963 111855963 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:111855963C>T ENST00000341259.2 + 2 371 c.14C>T c.(13-15)gCc>gTc p.A5V NM_005475.2 NP_005466.1 Q9UQQ2 SH2B3_HUMAN SH2B adaptor protein 3 5 blood coagulation cytosol signal transducer activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 10 AACGGGCCTGCCCTGCAGCCC 0.721000 19 18 0 0 1 0 0 ADAM32 203102 broad.mit.edu 37 8 39114840 39114840 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:39114840G>A ENST00000379907.4 + 19 2267 c.2140G>A c.(2140-2142)Gaa>Aaa p.E714K ADAM32_ENST00000519315.1_Missense_Mutation_p.E608K|ADAM32_ENST00000437682.2_Missense_Mutation_p.E615K NM_145004.5 NP_659441.3 Q8TC27 ADA32_HUMAN ADAM metallopeptidase domain 32 714 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) GTTCGCCAAGGAAGAGGAATT 0.383000 36 38 0 0 1 0 0 LRRC1 55227 broad.mit.edu 37 6 53769222 53769222 + Missense_Mutation SNP A A C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:53769222A>C ENST00000370888.1 + 10 1229 c.952A>C c.(952-954)Aat>Cat p.N318H NM_018214.4 NP_060684.4 Q9BTT6 LRRC1_HUMAN leucine rich repeat containing 1 318 cytoplasm|membrane cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Lung NSC(77;0.0147) BRCA - Breast invasive adenocarcinoma(397;0.0745) GAGCAACTTGAATGCAGACAG 0.294000 26 14 0 0 1 0 0 COX15 1355 broad.mit.edu 37 10 101486875 101486875 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:101486875G>A ENST00000370483.5 - 4 482 c.432C>T c.(430-432)ttC>ttT p.F144F COX15_ENST00000016171.5_Silent_p.F144F|CUTC_ENST00000493385.1_Intron NM_004376.5|NM_078470.4 NP_004367.2|NP_510870.1 Q7KZN9 COX15_HUMAN cytochrome c oxidase assembly homolog 15 (yeast) 144 heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Colorectal(252;0.234) Epithelial(162;3.08e-10)|all cancers(201;2.43e-08) TGTACCAGATGAACTTGAATT 0.453000 13 2 0 0 1 0 0 NTN4 59277 broad.mit.edu 37 12 96104369 96104369 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:96104369C>T ENST00000343702.4 - 5 1478 c.1030G>A c.(1030-1032)Gac>Aac p.D344N NTN4_ENST00000344911.4_Missense_Mutation_p.D307N|NTN4_ENST00000553059.1_Missense_Mutation_p.D344N|NTN4_ENST00000538383.1_Missense_Mutation_p.D307N NM_021229.3 NP_067052.2 Q9HB63 NET4_HUMAN netrin 4 344 Laminin EGF-like 2. axon guidance basement membrane|plasma membrane NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 ACATTAACGTCGAAGTGACAG 0.458000 7 36 0 0 1 0 0 SEMA3A 10371 broad.mit.edu 37 7 83643565 83643565 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:83643565G>A ENST00000265362.3 - 7 1084 c.770C>T c.(769-771)tCt>tTt p.S257F SEMA3A_ENST00000436949.1_Missense_Mutation_p.S257F NM_006080.2 NP_006071.1 Q14563 SEM3A_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 257 Sema. axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 AGCTTTTCCAGAGTGTTCTCC 0.388000 27 29 0 0 1 0 0 OR13A1 79290 broad.mit.edu 37 10 45799184 45799184 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:45799184G>A ENST00000553795.1 - 4 995 c.687C>T c.(685-687)ttC>ttT p.F229F OR13A1_ENST00000374401.2_Silent_p.F229F|OR13A1_ENST00000536058.1_Silent_p.F229F NM_001004297.2 NP_001004297.2 Q8NGR1 O13A1_HUMAN olfactory receptor, family 13, subfamily A, member 1 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1) 19 TGGTCATCAGGAAGTTCACTA 0.572000 39 12 0 0 1 0 0 PLAG1 5324 broad.mit.edu 37 8 57079014 57079014 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:57079014G>A ENST00000316981.3 - 5 1770 c.1291C>T c.(1291-1293)Ccc>Tcc p.P431S PLAG1_ENST00000423799.2_Missense_Mutation_p.P349S|PLAG1_ENST00000429357.2_Missense_Mutation_p.P431S NM_001114634.1|NM_002655.2 NP_001108106.1|NP_002646.2 Q6DJT9 PLAG1_HUMAN pleiomorphic adenoma gene 1 431 Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3) breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) GGATTATAGGGAGGACCATTT 0.453000 T """TCEA1, LIFR, CTNNB1, CHCHD7""" salivary adenoma 28 46 0 0 1 0 0 ZNF793 390927 broad.mit.edu 37 19 38028572 38028572 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:38028572C>T ENST00000445217.1 + 4 1047 c.1012C>T c.(1012-1014)Ccg>Tcg p.P338S ZNF793_ENST00000542455.1_Missense_Mutation_p.P338S|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000587143.1_Missense_Mutation_p.P338S Q6ZN11 ZN793_HUMAN zinc finger protein 793 338 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(2)|lung(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGGAGAAAGACCGTATCGTTG 0.458000 17 18 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78848477 78848477 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:78848477G>A ENST00000545128.1 + 22 3369 c.2831G>A c.(2830-2832)gGa>gAa p.G944E NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 647 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 AGATGCCAAGGAAGTGGCCCT 0.527000 20 51 0 0 1 0 0 BZRAP1 9256 broad.mit.edu 37 17 56403074 56403074 + Splice_Site SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:56403074C>T ENST00000355701.3 - 4 1441 c.570_splice c.e4-1 p.V191_splice BZRAP1_ENST00000343736.4_Splice_Site_p.V191_splice|BZRAP1_ENST00000268893.6_Intron|BZRAP1-AS1_ENST00000579527.1_RNA NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 191 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGGGCACTCACCTAGCCAGAG 0.632000 17 17 0 0 1 0 0 BICD1 636 broad.mit.edu 37 12 32481286 32481286 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:32481286C>T ENST00000548411.1 + 5 2078 c.1897C>T c.(1897-1899)Cgg>Tgg p.R633W BICD1_ENST00000281474.5_Missense_Mutation_p.R633W NM_001003398.1 NP_001003398.1 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 633 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) TGCCATAATCCGGGACCAAAT 0.483000 43 40 0 0 1 0 0 RHO 6010 broad.mit.edu 37 3 129251202 129251202 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:129251202C>T ENST00000296271.3 + 3 733 c.639C>T c.(637-639)acC>acT p.T213T NM_000539.3 NP_000530.1 P08100 OPSD_HUMAN rhodopsin 213 protein-chromophore linkage|rhodopsin mediated signaling pathway Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 22 all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183) GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234) Halothane(DB01159) TCCACTTCACCATCCCCATGA 0.572000 28 59 0 0 1 0 0 CDH22 64405 broad.mit.edu 37 20 44869733 44869733 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:44869733C>T ENST00000372262.3 - 2 819 c.419G>A c.(418-420)cGg>cAg p.R140Q CDH22_ENST00000537909.1_Missense_Mutation_p.R140Q NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 140 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) GGCGCGATCCCGAGCCTGGGC 0.617000 80 38 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41049521 41049521 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:41049521G>A ENST00000399564.4 - 14 1812 c.1362C>T c.(1360-1362)atC>atT p.I454I MROH2B_ENST00000506092.2_Silent_p.I9I NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B CAAAAGTCAGGATCCTTGGCC 0.453000 20 2 0 0 1 0 0 IMP4 92856 broad.mit.edu 37 2 131103602 131103602 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:131103602C>T ENST00000259239.3 + 7 1314 c.606C>T c.(604-606)atC>atT p.I202I IMP4_ENST00000409935.1_Silent_p.I202I NM_033416.1 NP_219484.1 Q96G21 IMP4_HUMAN IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast) 202 Brix. rRNA processing|translation nucleolus|ribonucleoprotein complex aminoacyl-tRNA ligase activity|ATP binding|protein binding central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 18 Colorectal(110;0.1) TCTCTGACATCCTCCGATACC 0.597000 33 53 0 0 1 0 0 CYP2B6 1555 broad.mit.edu 37 19 41497264 41497264 + Silent SNP C C T rs150742423 byFrequency TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:41497264C>T ENST00000324071.4 + 1 61 c.54C>T c.(52-54)ctC>ctT p.L18L NM_000767.4 NP_000758.1 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, polypeptide 6 18 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) TCTTGCTACTCCTGGTTCAGC 0.612000 143 114 0 0 1 0 0 SP140 11262 broad.mit.edu 37 2 231102934 231102934 + Nonsense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:231102934C>T ENST00000392045.3 + 3 358 c.244C>T c.(244-246)Caa>Taa p.Q82* SP140_ENST00000417495.3_Nonsense_Mutation_p.Q82*|SP140_ENST00000343805.6_Nonsense_Mutation_p.Q82*|SP140_ENST00000544128.1_3'UTR|SP140_ENST00000373645.3_Nonsense_Mutation_p.Q82*|SP140_ENST00000350136.5_Nonsense_Mutation_p.Q62*|SP140_ENST00000486687.2_Nonsense_Mutation_p.Q82*|SP140_ENST00000420434.3_Nonsense_Mutation_p.Q82* NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 82 HSR. defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) TAAGCATTTTCAAGAAGCTTT 0.358000 7 62 0 0 1 0 0 AXL 558 broad.mit.edu 37 19 41759578 41759578 + Silent SNP A A G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:41759578A>G ENST00000301178.4 + 17 2191 c.2001A>G c.(1999-2001)agA>agG p.R667R AXL_ENST00000593513.1_Silent_p.R399R|AXL_ENST00000359092.3_Silent_p.R658R NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713.2 P30530 UFO_HUMAN AXL receptor tyrosine kinase 667 Protein kinase. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 GTACCAAGAGATTCATACACC 0.602000 6 9 0 0 1 0 0 ZER1 10444 broad.mit.edu 37 9 131515760 131515760 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:131515760G>A ENST00000291900.2 - 4 835 c.429C>T c.(427-429)ttC>ttT p.F143F ZER1_ENST00000494461.1_5'UTR NM_006336.2 NP_006327.2 Q7Z7L7 ZER1_HUMAN zyg-11 related, cell cycle regulator 143 ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 15 CCTCCTCATAGAAAATGTTTG 0.562000 22 12 0 0 1 0 0 SLC4A5 57835 broad.mit.edu 37 2 74466470 74466470 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:74466470G>A ENST00000394019.2 - 21 2708 c.2311C>T c.(2311-2313)Cct>Tct p.P771S SLC4A5_ENST00000423644.1_Missense_Mutation_p.P771S|SLC4A5_ENST00000377632.1_Missense_Mutation_p.P771S|SLC4A5_ENST00000377634.4_Missense_Mutation_p.P771S|SLC4A5_ENST00000359484.4_Missense_Mutation_p.P707S|SLC4A5_ENST00000357822.5_Missense_Mutation_p.P771S|SLC4A5_ENST00000346834.4_Missense_Mutation_p.P771S|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000358683.4_Missense_Mutation_p.P707S|RP11-287D1.3_ENST00000451608.2_3'UTR NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 771 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 ACCTTGGTAGGAAAATAGCGG 0.532000 4 30 0 0 1 0 0 KRTAP10-4 386672 broad.mit.edu 37 21 45994516 45994516 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr21:45994516C>T ENST00000400374.3 + 1 911 c.881C>T c.(880-882)tCc>tTc p.S294F TSPEAR_ENST00000323084.4_Intron NM_198687.1 NP_941960.1 P60372 KR104_HUMAN keratin associated protein 10-4 294 36 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1) 18 TCTGGGGCTTCCTCTCTGTGC 0.642000 44 102 0 0 1 0 0 MAATS1 89876 broad.mit.edu 37 3 119452210 119452210 + Splice_Site SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:119452210G>A ENST00000273390.5 + 10 1278 c.e10-1 NM_033364.3 NP_203528.2 MYCBP-associated, testis expressed 1 CCTTCCCATAGGATTAGTGGA 0.373000 11 31 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3226873 3226873 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:3226873G>A ENST00000602557.1 - 20 3360 c.2805C>T c.(2803-2805)atC>atT p.I935I CSMD1_ENST00000400186.3_Silent_p.I935I|CSMD1_ENST00000542608.1_Silent_p.I934I|CSMD1_ENST00000539096.1_Silent_p.I934I|CSMD1_ENST00000602723.1_Silent_p.I935I|CSMD1_ENST00000537824.1_Silent_p.I934I|CSMD1_ENST00000520002.1_Silent_p.I935I Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 935 CUB 6. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TCTTCCCTTGGATGTAGCCTC 0.403000 3 6 0 0 1 0 0 NLRP9 338321 broad.mit.edu 37 19 56223859 56223859 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:56223859C>T ENST00000332836.2 - 7 2626 c.2599G>A c.(2599-2601)Gaa>Aaa p.E867K NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 867 cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) TCTCCTATTTCATTATGCCCA 0.448000 13 31 0 0 1 0 0 TAS2R39 259285 broad.mit.edu 37 7 142880740 142880740 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:142880740G>A ENST00000446620.1 + 1 229 c.229G>A c.(229-231)Gtt>Att p.V77I NM_176881.2 NP_795362.2 P59534 T2R39_HUMAN taste receptor, type 2, member 39 77 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 Melanoma(164;0.059) CAGGATCCTGGTTTTCCTGAG 0.408000 32 39 0 0 1 0 0 USP20 10868 broad.mit.edu 37 9 132627616 132627616 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:132627616G>A ENST00000315480.4 + 10 804 c.646G>A c.(646-648)Ggg>Agg p.G216R USP20_ENST00000372429.3_Missense_Mutation_p.G216R|USP20_ENST00000358355.1_Missense_Mutation_p.G216R Q9Y2K6 UBP20_HUMAN ubiquitin specific peptidase 20 216 endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1) 11 Ovarian(14;0.00556) TCTGTCTCATGGGATCAAGTT 0.582000 28 24 0 0 1 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90501248 90501248 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:90501248C>T ENST00000325643.5 + 4 1912 c.1846C>T c.(1846-1848)Ccc>Tcc p.P616S NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 CCCCATCCTTCCCGGGGTTGT 0.632000 27 39 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39358914 39358914 + Silent SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr13:39358914T>C ENST00000280481.7 + 6 6204 c.5988T>C c.(5986-5988)gcT>gcC p.A1996A NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1996 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TCCCAGGGGCTCAAGTTACAA 0.438000 22 23 0 0 1 0 0 DMBX1 127343 broad.mit.edu 37 1 46977893 46977893 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:46977893C>T ENST00000371956.4 + 4 891 c.876C>T c.(874-876)gcC>gcT p.A292A DMBX1_ENST00000360032.3_Silent_p.A287A NM_147192.2 NP_671725.1 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 292 brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) GGGGTCCGGCCCCTGCTGCTG 0.657000 56 26 0 0 1 0 0 GRIN3A 116443 broad.mit.edu 37 9 104432834 104432834 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:104432834G>A ENST00000361820.3 - 3 2460 c.1860C>T c.(1858-1860)ctC>ctT p.L620L NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 620 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) TCCCTCTCAGGAGATCACCCA 0.498000 11 32 0 0 1 0 0 RECQL4 9401 broad.mit.edu 37 8 145738662 145738662 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:145738662G>A ENST00000428558.2 - 15 2443 c.2402C>T c.(2401-2403)gCc>gTc p.A801V CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'UTR NM_004260.3 NP_004251.3 O94761 RECQ4_HUMAN RecQ protein-like 4 801 Helicase C-terminal. DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) CCGGCCCACGGCCTGCACGTA 0.721000 """N, F, S""" """osteosarcoma, skin basal and sqamous cell""" Genes defective in diseases associated with sensitivity to DNA damaging agents Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome 13 14 0 0 1 0 0 CLN5 1203 broad.mit.edu 37 13 77570096 77570096 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr13:77570096G>A ENST00000377453.3 + 3 1838 c.546G>A c.(544-546)atG>atA p.M182I CLN5_ENST00000485938.1_3'UTR NM_006493.2 NP_006484.1 O75503 CLN5_HUMAN ceroid-lipofuscinosis, neuronal 5 133 brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 16 Acute lymphoblastic leukemia(28;0.205) GBM - Glioblastoma multiforme(99;0.0503) ACTACACAATGGAATGGTATG 0.413000 55 59 0 0 1 0 0 CPPED1 55313 broad.mit.edu 37 16 12758944 12758944 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:12758944G>A ENST00000381774.4 - 4 984 c.744C>T c.(742-744)taC>taT p.Y248Y CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Silent_p.Y106Y NM_018340.2 NP_060810.2 Q9BRF8 CPPED_HUMAN calcineurin-like phosphoesterase domain containing 1 248 hydrolase activity|metal ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1) 18 CATTCCTGTGGTAGTGGCCTG 0.562000 26 24 0 0 1 0 0 MTIF2 4528 broad.mit.edu 37 2 55481241 55481241 + Silent SNP A A G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:55481241A>G ENST00000394600.3 - 8 1336 c.600T>C c.(598-600)ttT>ttC p.F200F MTIF2_ENST00000403721.1_Silent_p.F200F|MTIF2_ENST00000263629.4_Silent_p.F200F NM_001005369.1 NP_001005369.1 P46199 IF2M_HUMAN mitochondrial translational initiation factor 2 200 G-domain. regulation of translational initiation mitochondrion GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 24 GAGTTTTTCGAAATTTGTCAA 0.453000 11 55 0 0 1 0 0 GBA3 57733 broad.mit.edu 37 4 22820418 22820418 + RNA SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:22820418G>A ENST00000503442.1 + 0 452 GBA3_ENST00000508264.1_RNA|GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA NM_001128432.2 NP_001121904.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GTGGAACCAGGGATACAGCAG 0.418000 10 13 0 0 1 0 0 C10orf71 118461 broad.mit.edu 37 10 50532585 50532585 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:50532585C>T ENST00000374144.3 + 3 2283 c.1995C>T c.(1993-1995)acC>acT p.T665T C10orf71_ENST00000323868.4_Silent_p.T665T Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 665 endometrium(1) 1 AAATGAAGACCCACCAGCTAG 0.532000 20 4 0 0 1 0 0 MTUS1 57509 broad.mit.edu 37 8 17581312 17581312 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:17581312G>A ENST00000262102.6 - 4 2542 c.2318C>T c.(2317-2319)tCg>tTg p.S773L MTUS1_ENST00000381869.3_Intron|MTUS1_ENST00000519263.1_Intron NM_001001924.2 NP_001001924.1 Q9ULD2 MTUS1_HUMAN microtubule associated tumor suppressor 1 773 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 36 Colorectal(111;0.0778) CACCCATGACGACTGTGCAGT 0.463000 38 71 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76499012 76499012 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:76499012C>T ENST00000389840.5 - 32 5150 c.5026G>A c.(5026-5028)Gaa>Aaa p.E1676K DNAH17-AS1_ENST00000598378.1_3'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.E1677K dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GGCTTCTCTTCGTAGGTCACC 0.647000 25 3 0 0 1 0 0 ABLIM2 84448 broad.mit.edu 37 4 8055966 8055966 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:8055966G>A ENST00000318888.4 - 8 913 c.42C>T c.(40-42)tcC>tcT p.S14S ABLIM2_ENST00000341937.5_Silent_p.S257S|ABLIM2_ENST00000428004.2_Silent_p.S257S|ABLIM2_ENST00000505872.1_Silent_p.S257S|ABLIM2_ENST00000407564.3_Silent_p.S257S|ABLIM2_ENST00000545242.1_Silent_p.S257S|ABLIM2_ENST00000361581.5_Silent_p.S257S|ABLIM2_ENST00000514025.1_Silent_p.S14S|ABLIM2_ENST00000447017.2_Silent_p.S257S|ABLIM2_ENST00000296372.8_Silent_p.S257S|ABLIM2_ENST00000546334.1_Silent_p.S257S|ABLIM2_ENST00000361737.5_Silent_p.S257S Q6H8Q1 ABLM2_HUMAN actin binding LIM protein family, member 2 257 axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1) 25 GATGCCAGATGGAGGAACCTG 0.522000 8 21 0 0 1 0 0 RB1 5925 broad.mit.edu 37 13 48955570 48955570 + Silent SNP A A G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr13:48955570A>G ENST00000267163.4 + 17 1824 c.1686A>G c.(1684-1686)gcA>gcG p.A562A NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 562 Domain A.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(8) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AATCCCTTGCATGGCTCTCAG 0.343000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 6 10 0 0 1 0 0 TMCC1 23023 broad.mit.edu 37 3 129389629 129389629 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:129389629G>A ENST00000393238.3 - 4 1395 c.1055C>T c.(1054-1056)tCc>tTc p.S352F TMCC1_ENST00000432054.2_Missense_Mutation_p.S28F|TMCC1_ENST00000329333.5_Missense_Mutation_p.S173F|TMCC1_ENST00000426664.2_Missense_Mutation_p.S238F NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 352 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 GGAGAAGCTGGAAAACCCACC 0.522000 23 34 0 0 1 0 0 SNX20 124460 broad.mit.edu 37 16 50707697 50707697 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:50707697C>T ENST00000330943.4 - 4 742 c.571G>A c.(571-573)Gag>Aag p.E191K SNX20_ENST00000300590.3_Intron|SNX20_ENST00000423026.2_Intron NM_182854.2 NP_878274.1 Q7Z614 SNX20_HUMAN sorting nexin 20 191 PX. cell communication|protein transport endosome membrane|nucleus|plasma membrane phosphatidylinositol binding|protein binding kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1) 15 CCGAAAGCCTCGCGCAGCTCC 0.736000 7 4 0 0 1 0 0 H3F3C 440093 broad.mit.edu 37 12 31944879 31944879 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:31944879G>A ENST00000340398.3 - 1 296 c.222C>T c.(220-222)atC>atT p.I74I NM_001013699.2 NP_001013721.2 Q6NXT2 H3C_HUMAN H3 histone, family 3C 74 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 18 AATCCTGCGCGATCTCCCTCA 0.587000 HNSCC(67;0.2) 27 60 0 0 1 0 0 RAPGEF4 11069 broad.mit.edu 37 2 173662258 173662258 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:173662258C>T ENST00000264111.6 + 3 401 c.214C>T c.(214-216)Cgc>Tgc p.R72C RAPGEF4_ENST00000409036.1_Missense_Mutation_p.R72C|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.R72C Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 72 blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) CCCAGTATTTCGCCAGGGTGA 0.388000 8 6 0 0 1 0 0 SCG2 7857 broad.mit.edu 37 2 224463674 224463674 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:224463674G>A ENST00000305409.2 - 2 559 c.327C>T c.(325-327)gaC>gaT p.D109D NM_003469.4 NP_003460.2 P13521 SCG2_HUMAN secretogranin II 109 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 44 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) TTCTCATCCAGTCTTCTTCAC 0.438000 21 117 0 0 1 0 0 ZNF706 51123 broad.mit.edu 37 8 102212260 102212260 + Silent SNP A A T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:102212260A>T ENST00000520347.1 - 3 3157 c.201T>A c.(199-201)ctT>ctA p.L67L ZNF706_ENST00000519744.1_Intron|ZNF706_ENST00000517844.1_Silent_p.L67L|ZNF706_ENST00000311212.4_Silent_p.L67L|ZNF706_ENST00000520984.1_Silent_p.L67L|ZNF706_ENST00000519882.1_Silent_p.L67L|ZNF706_ENST00000518336.1_Silent_p.L67L|ZNF706_ENST00000521272.1_Silent_p.L67L Q9Y5V0 ZN706_HUMAN zinc finger protein 706 67 intracellular zinc ion binding large_intestine(1)|ovary(2) 3 all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117) Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05) ATTCTGGAGGAAGTGGAGTCT 0.393000 40 44 0 0 1 0 0 GRM5 2915 broad.mit.edu 37 11 88300258 88300258 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:88300258G>A ENST00000418177.2 - 8 2960 c.2593C>T c.(2593-2595)Ctg>Ttg p.L865L GRM5_ENST00000393297.1_Silent_p.L865L|GRM5_ENST00000455756.2_Silent_p.L865L|GRM5_ENST00000305447.4_Silent_p.L865L|GRM5_ENST00000305432.5_Silent_p.L865L P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 865 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) CTCTTCCACAGGTTGACTAGG 0.562000 23 26 0 0 1 0 0 BPIFB6 128859 broad.mit.edu 37 20 31624268 31624268 + Nonsense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:31624268C>T ENST00000349552.1 + 7 595 c.595C>T c.(595-597)Cag>Tag p.Q199* NM_174897.2 NP_777557.1 Q8NFQ5 BPIL3_HUMAN BPI fold containing family B, member 6 199 extracellular region lipid binding GCCTGTGGGCCAGATGGGCAC 0.587000 144 127 0 0 1 0 0 LST3 0 broad.mit.edu 37 12 21229393 21229393 + Missense_Mutation SNP T T G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:21229393T>G ENST00000540229.1 + 15 2003 c.1938T>G c.(1936-1938)atT>atG p.I646M SLCO1B7_ENST00000421593.2_Missense_Mutation_p.I538M|LST3_ENST00000381541.3_Missense_Mutation_p.I585M|RP11-125O5.2_ENST00000590779.1_Missense_Mutation_p.F39C|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.I585M|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.I646M CAGGAGGTATTCTAGTTCCAA 0.368000 29 51 0 0 1 0 0 H1FX 8971 broad.mit.edu 37 3 129034464 129034464 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:129034464C>T ENST00000333762.4 - 1 656 c.282G>A c.(280-282)aaG>aaA p.K94K H1FX-AS1_ENST00000511998.1_RNA|H1FX-AS1_ENST00000433902.2_RNA NM_006026.3 NP_006017.1 Q92522 H1X_HUMAN H1 histone family, member X 94 H15. nucleosome assembly nucleosome|nucleus DNA binding kidney(1)|ovary(1)|urinary_tract(2) 4 GCACCAGCGCCTTGATCGAGT 0.627000 3 1 0 0 1 0 0 PPIL2 23759 broad.mit.edu 37 22 22040810 22040810 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:22040810C>T ENST00000406385.1 + 11 813 c.753C>T c.(751-753)acC>acT p.T251T PPIL2_ENST00000335025.7_Silent_p.T251T|PPIL2_ENST00000456792.2_Silent_p.T230T|PPIL2_ENST00000492445.2_Silent_p.T251T|PPIL2_ENST00000398831.3_Silent_p.T251T|PPIL2_ENST00000412327.1_Silent_p.T251T Q13356 PPIL2_HUMAN peptidylprolyl isomerase (cyclophilin)-like 2 251 blood coagulation|leukocyte migration|protein folding|protein polyubiquitination Golgi lumen|nucleus|ubiquitin ligase complex peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 17 Colorectal(54;0.105) CTTCCTTCACCTCCACCGCGA 0.622000 48 54 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24877295 24877295 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:24877295G>A ENST00000382554.3 + 3 737 c.419G>A c.(418-420)cGa>cAa p.R140Q NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 140 DNA integration integral to membrane DNA binding p.R140Q(1) breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 CTGGTGGGGCGACTGCGCTGG 0.682000 43 20 0 0 1 0 0 OR5P2 120065 broad.mit.edu 37 11 7817638 7817638 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:7817638C>T ENST00000329434.2 - 1 882 c.852G>A c.(850-852)ctG>ctA p.L284L RP11-35J10.5_ENST00000527565.1_lincRNA NM_153444.1 NP_703145.1 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, member 2 284 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 22 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) GGCTGTAGATCAGGGGGTTCA 0.413000 20 46 0 0 1 0 0 YARS 8565 broad.mit.edu 37 1 33276317 33276317 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:33276317G>A ENST00000373477.4 - 3 1163 c.255C>T c.(253-255)gcC>gcT p.A85A NM_003680.3 NP_003671.1 P54577 SYYC_HUMAN tyrosyl-tRNA synthetase 85 apoptosis|tyrosyl-tRNA aminoacylation cytosol|extracellular space|nucleus|soluble fraction ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) L-Tyrosine(DB00135) GTTCCCATGGGGCTTTCATGT 0.458000 11 111 0 0 1 0 0 CCDC74B 91409 broad.mit.edu 37 2 130897599 130897599 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:130897599G>A ENST00000392984.3 - 5 1996 c.1253C>T c.(1252-1254)cCc>cTc p.P418L CCDC74B_ENST00000310463.6_Missense_Mutation_p.P316L|CCDC74B_ENST00000409943.3_Missense_Mutation_p.P250L Q96LY2 CC74B_HUMAN coiled-coil domain containing 74B 316 endometrium(2)|large_intestine(1)|lung(3) 6 Colorectal(110;0.1) CACTCACCTGGGAAAGCTAGC 0.647000 48 17 0 0 1 0 0 ZNF550 162972 broad.mit.edu 37 19 58059238 58059238 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:58059238C>T ENST00000325134.5 - 3 434 c.278G>A c.(277-279)aGa>aAa p.R93K ZNF550_ENST00000457177.1_Missense_Mutation_p.R125K|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF550_ENST00000506609.2_Missense_Mutation_p.R84K Q7Z398 ZN550_HUMAN zinc finger protein 550 125 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 7 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATCCCTAGCTCTCCCCAACCT 0.527000 57 162 0 0 1 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56701424 56701424 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:56701424G>A ENST00000586855.2 - 5 1573 c.1260C>T c.(1258-1260)ttC>ttT p.F420F ZSCAN5B_ENST00000358992.3_Silent_p.F420F A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 420 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 ACTCGTGGGCGAACCGCTTTT 0.567000 26 23 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72050821 72050821 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:72050821G>A ENST00000378743.3 - 2 1217 c.859C>T c.(859-861)Cct>Tct p.P287S ZFC3H1_ENST00000552037.1_Missense_Mutation_p.P287S|ZFC3H1_ENST00000549407.1_5'UTR|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.P287S NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 287 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TTCTCCTCAGGAGCTACTTCT 0.363000 23 41 0 0 1 0 0 C10orf68 79741 broad.mit.edu 37 10 33140832 33140832 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:33140832C>T ENST00000375030.2 + 21 2217 c.1599C>T c.(1597-1599)caC>caT p.H533H C10orf68_ENST00000375025.4_Silent_p.H638H|C10orf68_ENST00000375028.3_Silent_p.H578H Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 574 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4) 29 AAGACATCCACCTTCCTTTAC 0.328000 51 18 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70954523 70954523 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:70954523C>T ENST00000393567.2 - 46 7906 c.7756G>A c.(7756-7758)Gag>Aag p.E2586K NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2586 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TTGTCGCTCTCTAGGGCCTGC 0.577000 7 16 0 0 1 0 0 SLC5A8 160728 broad.mit.edu 37 12 101560399 101560399 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:101560399G>A ENST00000536262.2 - 12 1957 c.1399C>T c.(1399-1401)Cct>Tct p.P467S NM_145913.3 NP_666018.3 Q8N695 SC5A8_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 467 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 GTTCTCTCAGGAAGTGGAGGA 0.418000 7 22 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9058282 9058282 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:9058282C>T ENST00000397910.4 - 3 29367 c.29164G>A c.(29164-29166)Gaa>Aaa p.E9722K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9724 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTAGTTGTTTCCACAAAGCGA 0.488000 5 19 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9069352 9069352 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:9069352G>A ENST00000397910.4 - 3 18297 c.18094C>T c.(18094-18096)Cac>Tac p.H6032Y NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6034 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGCTGGGAGTGGATTGAGACA 0.443000 33 71 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130929789 130929789 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:130929789C>T ENST00000261655.4 - 7 719 c.556G>A c.(556-558)Gag>Aag p.E186K RIMBP2_ENST00000536002.1_Missense_Mutation_p.E94K|RIMBP2_ENST00000535703.1_Missense_Mutation_p.E94K NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 186 SH3 1. cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TCGGGGTTCTCGTTCGGTCCA 0.542000 18 32 0 0 1 0 0 NOL8 55035 broad.mit.edu 37 9 95077335 95077335 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:95077335C>T ENST00000545558.1 - 7 2064 c.1572G>A c.(1570-1572)aaG>aaA p.K524K NOL8_ENST00000542053.1_Silent_p.K456K|NOL8_ENST00000535387.1_Silent_p.K524K|NOL8_ENST00000358855.4_Silent_p.K456K|NOL8_ENST00000442668.2_Silent_p.K524K Q76FK4 NOL8_HUMAN nucleolar protein 8 524 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 16 TCTTGGGGCTCTTGGAGCCTC 0.527000 5 40 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130353469 130353469 + Splice_Site SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:130353469G>A ENST00000358511.6 + 26 5059 c.5028_splice c.e26+1 p.K1676_splice COL6A6_ENST00000453409.2_Splice_Site_p.K1676_splice NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1676 Triple-helical region. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GTGGACCTAAGGTACCGTGTG 0.403000 3 10 0 0 1 0 0 PRB2 653247 broad.mit.edu 37 12 11546884 11546884 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:11546884C>T ENST00000389362.4 - 3 163 c.128G>A c.(127-129)gGa>gAa p.G43E PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 p.?(1)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TTTGTTGCCTCCTTGTGGGGG 0.522000 54 157 0 0 1 0 0 PDLIM5 10611 broad.mit.edu 37 4 95575786 95575786 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:95575786C>T ENST00000317968.4 + 10 1595 c.1459C>T c.(1459-1461)Ctt>Ttt p.L487F PDLIM5_ENST00000380176.3_3'UTR|PDLIM5_ENST00000542407.1_Missense_Mutation_p.L365F|PDLIM5_ENST00000514743.1_Missense_Mutation_p.L516F|PDLIM5_ENST00000437932.1_Missense_Mutation_p.L378F NM_001256428.1|NM_006457.4 NP_001243357.1|NP_006448.4 Q96HC4 PDLI5_HUMAN PDZ and LIM domain 5 487 LIM zinc-binding 2. regulation of dendritic spine morphogenesis|regulation of synaptogenesis actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome actin binding|actinin binding|protein kinase C binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.84e-09) AAGGAAGATCCTTGGAGTAAG 0.353000 35 19 0 0 1 0 0 PGR 5241 broad.mit.edu 37 11 100999493 100999493 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:100999493G>A ENST00000325455.5 - 1 1762 c.309C>T c.(307-309)ccC>ccT p.P103P PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Silent_p.P103P NM_000926.4|NM_001202474.1 NP_000917.3|NP_001189403.1 P06401 PRGR_HUMAN progesterone receptor 103 Modulating, Pro-Rich. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) CCTTTTCTGGGGGACTAGAAC 0.627000 7 25 0 0 1 0 0 ZNF12 7559 broad.mit.edu 37 7 6730526 6730526 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:6730526G>A ENST00000405858.1 - 5 2588 c.2047C>T c.(2047-2049)Cat>Tat p.H683Y ZNF12_ENST00000342651.5_Missense_Mutation_p.H645Y|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.H609Y NM_006956.2|NM_016265.3 NP_008887.2|NP_057349.2 P17014 ZNF12_HUMAN zinc finger protein 12 683 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3) 16 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) CCTCTCCTATGAATTCTCTGA 0.373000 3 18 0 0 1 0 0 SNTG2 54221 broad.mit.edu 37 2 1168852 1168852 + Missense_Mutation SNP G G A rs145266598 by1000genomes TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:1168852G>A ENST00000308624.5 + 8 703 c.574G>A c.(574-576)Gga>Aga p.G192R SNTG2_ENST00000467759.1_3'UTR|SNTG2_ENST00000407292.1_Intron NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 192 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding p.G192R(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) GCATCTGAACGGAAACTCCAG 0.443000 112 55 0 0 1 0 0 NXF3 56000 broad.mit.edu 37 X 102337212 102337212 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:102337212C>T ENST00000395065.3 - 9 962 c.861G>A c.(859-861)acG>acA p.T287T NXF3_ENST00000425463.2_Silent_p.T198T|NXF3_ENST00000425644.1_5'UTR NM_022052.1 NP_071335.1 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 287 cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 CCGAGAAGGTCGTGCACACTG 0.542000 56 13 0 0 1 0 0 CAPN6 827 broad.mit.edu 37 X 110496411 110496411 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:110496411G>A ENST00000324068.1 - 4 498 c.331C>T c.(331-333)Cct>Tct p.P111S CAPN6_ENST00000541758.1_5'UTR NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 111 Calpain catalytic. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 GTTTTTTGAGGGTCCCATTCC 0.393000 20 7 0 0 1 0 0 SPON1 10418 broad.mit.edu 37 11 14101557 14101557 + RNA SNP G G T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:14101557G>T ENST00000310358.7 + 0 1201 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) CACACCCAAAGGATTACCCTC 0.488000 10 25 7.03913e-09 7.11055e-09 1 1 0 OLFML3 56944 broad.mit.edu 37 1 114523104 114523104 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:114523104C>T ENST00000369551.1 + 3 493 c.205C>T c.(205-207)Cgt>Tgt p.R69C OLFML3_ENST00000393300.2_Missense_Mutation_p.R69C|OLFML3_ENST00000320334.4_Missense_Mutation_p.R89C|OLFML3_ENST00000491700.1_3'UTR Q9NRN5 OLFL3_HUMAN olfactomedin-like 3 89 multicellular organismal development extracellular region breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1) 14 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GAGAGTGGATCGTCTGGAGCG 0.587000 63 22 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105410201 105410201 + Nonsense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:105410201G>A ENST00000333244.5 - 7 11706 c.11587C>T c.(11587-11589)Caa>Taa p.Q3863* AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3863 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGGCGAGCTTGGACCGTCAGG 0.612000 145 98 0 0 1 0 0 SRRM3 222183 broad.mit.edu 37 7 75877511 75877511 + Nonsense_Mutation SNP C C A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:75877511C>A ENST00000388802.4 + 3 448 c.239C>A c.(238-240)tCg>tAg p.S80* SRRM3_ENST00000326382.8_Nonsense_Mutation_p.S80* serine/arginine repetitive matrix 3 NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1) 8 TGCAGGTATTCGGAGGAGGAG 0.632000 8 10 1.12685e-05 1.13445e-05 1 1 0 ZNF793 390927 broad.mit.edu 37 19 38028341 38028341 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:38028341G>A ENST00000445217.1 + 4 816 c.781G>A c.(781-783)Ggg>Agg p.G261R ZNF793_ENST00000542455.1_Missense_Mutation_p.G261R|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000587143.1_Missense_Mutation_p.G261R Q6ZN11 ZN793_HUMAN zinc finger protein 793 261 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(2)|lung(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CACTGACTGTGGGAAAGCCTT 0.458000 5 15 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40902447 40902447 + Silent SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:40902447T>C ENST00000324001.7 - 7 2082 c.1812A>G c.(1810-1812)caA>caG p.Q604Q PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 604 55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER]. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) CCTTCGGGAGTTGCACTTCAG 0.542000 102 73 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3214386 3214386 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:3214386C>T ENST00000355072.5 + 49 6869 c.6724C>T c.(6724-6726)Cct>Tct p.P2242S NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 2242 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) TTTGCACCTTCCTCCTGAGAA 0.587000 26 76 0 0 1 0 0 SETBP1 26040 broad.mit.edu 37 18 42532419 42532419 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr18:42532419C>T ENST00000282030.5 + 4 3410 c.3114C>T c.(3112-3114)ttC>ttT p.F1038F NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 1038 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) TACAAGGGTTCAGCTACCCTA 0.448000 Schinzel-Giedion syndrome 21 21 0 0 1 0 0 LSM10 84967 broad.mit.edu 37 1 36859427 36859427 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:36859427G>A ENST00000315732.2 - 2 453 c.304C>T c.(304-306)Cat>Tat p.H102Y LSM10_ENST00000476041.1_5'UTR NM_032881.1 NP_116270.1 Q969L4 LSM10_HUMAN LSM10, U7 small nuclear RNA associated 102 histone mRNA metabolic process|mRNA processing|RNA splicing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription Cajal body|U7 snRNP histone pre-mRNA DCP binding|protein binding upper_aerodigestive_tract(1)|urinary_tract(1) 2 Myeloproliferative disorder(586;0.0393) CGCACCCGATGGATAATCTGC 0.567000 76 23 0 0 1 0 0 KCNH4 23415 broad.mit.edu 37 17 40327692 40327692 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:40327692G>A ENST00000264661.3 - 6 1224 c.892C>T c.(892-894)Cgt>Tgt p.R298C KCNH4_ENST00000607371.1_Missense_Mutation_p.R298C NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 298 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) CCAATGGAACGAGGAGCAGAG 0.547000 68 10 0 0 1 0 0 TRBV5-1 28614 broad.mit.edu 37 7 142020937 142020937 + RNA SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:142020937G>A ENST00000390381.3 + 0 353 TGTCTCCTGGGAGCAGGTGAG 0.607000 5 6 0 0 1 0 0 CNTN1 1272 broad.mit.edu 37 12 41365258 41365258 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:41365258G>A ENST00000547849.1 + 16 2146 c.1827G>A c.(1825-1827)gaG>gaA p.E609E CNTN1_ENST00000347616.1_Intron|CNTN1_ENST00000551295.2_Intron|CNTN1_ENST00000348761.2_Intron|CNTN1_ENST00000360099.3_Silent_p.E609E|CNTN1_ENST00000547702.1_Silent_p.E609E NM_001256064.1 NP_001242993.1 Q12860 CNTN1_HUMAN contactin 1 0 Fibronectin type-III 1.|Gly/Pro-rich. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) AAGGTGGAGAGAAAAACATGG 0.468000 4 13 0 0 1 0 0 EPB41L4B 54566 broad.mit.edu 37 9 112005953 112005953 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:112005953G>A ENST00000374566.3 - 15 1871 c.1354C>T c.(1354-1356)Cat>Tat p.H452Y EPB41L4B_ENST00000374557.4_Missense_Mutation_p.H452Y NM_019114.3 NP_061987.3 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 452 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 ATATTAGGATGATATTGAGGC 0.463000 7 18 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167792324 167792324 + Nonsense_Mutation SNP C C A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:167792324C>A ENST00000367848.1 - 29 4311 c.3814G>T c.(3814-3816)Gag>Tag p.E1272* ADCY10_ENST00000545172.1_Nonsense_Mutation_p.E1211*|ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Nonsense_Mutation_p.E1364* Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 1364 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 ACAGAAAGCTCCCACAGCCGC 0.448000 59 27 3.30712e-30 3.37684e-30 1 1 0 TIMM10B 26515 broad.mit.edu 37 11 6503414 6503414 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:6503414C>T ENST00000254616.6 + 3 345 c.275C>T c.(274-276)gCt>gTt p.A92V TIMM10B_ENST00000472836.1_Missense_Mutation_p.A92V|TIMM10B_ENST00000530751.1_Missense_Mutation_p.A60V NM_012192.3 NP_036324.1 translocase of inner mitochondrial membrane 10 homolog B (yeast) CCAGGCGTTGCTGCTGAACAG 0.632000 24 13 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38692515 38692515 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:38692515C>T ENST00000222345.6 + 20 5507 c.4998C>T c.(4996-4998)gtC>gtT p.V1666V NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 1666 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) AAAGAGCCGTCTCACTCTTCT 0.662000 35 17 0 0 1 0 0 EPHA10 284656 broad.mit.edu 37 1 38227125 38227125 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:38227125G>A ENST00000373048.4 - 3 801 c.802C>T c.(802-804)Cgc>Tgc p.R268C EPHA10_ENST00000319637.6_Missense_Mutation_p.R268C|EPHA10_ENST00000427468.2_Missense_Mutation_p.R268C NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 268 extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CAGCTGCAGCGGCCCACAGGC 0.692000 19 123 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29130442 29130442 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:29130442G>A ENST00000382580.2 - 2 343 c.268C>T c.(268-270)Cct>Tct p.P90S CHEK2_ENST00000382566.1_Missense_Mutation_p.P90S|CHEK2_ENST00000405598.1_Missense_Mutation_p.P90S|CHEK2_ENST00000328354.6_Missense_Mutation_p.P90S|CHEK2_ENST00000348295.3_Missense_Mutation_p.P90S|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000403642.1_Missense_Mutation_p.P90S|CHEK2_ENST00000402731.1_Missense_Mutation_p.P90S|CHEK2_ENST00000404276.1_Missense_Mutation_p.P90S|CHEK2_ENST00000382578.1_Missense_Mutation_p.P90S|CHEK2_ENST00000382565.1_Missense_Mutation_p.P90S NM_001005735.1 NP_001005735.1 O96017 CHK2_HUMAN checkpoint kinase 2 90 cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CAGGGGGCAGGGGTAGGCTCC 0.488000 F breast Direct reversal of damage;Other conserved DNA damage response genes 13 19 0 0 1 0 0 MANEA 79694 broad.mit.edu 37 6 96034537 96034537 + Missense_Mutation SNP G G T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:96034537G>T ENST00000358812.4 + 2 356 c.222G>T c.(220-222)aaG>aaT p.K74N MANEA_ENST00000369293.1_Missense_Mutation_p.K74N NM_024641.3 NP_078917.2 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 74 Catalytic (Probable). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) CAAATACCAAGAATTTAAAAA 0.333000 12 44 0.00010058 0.000101088 1 1 0 PSME4 23198 broad.mit.edu 37 2 54147374 54147374 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:54147374G>A ENST00000404125.1 - 19 2431 c.2376C>T c.(2374-2376)ctC>ctT p.L792L PSME4_ENST00000421748.2_Intron NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 792 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding p.L678L(1)|p.L792L(1) breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GGAGTTTGACGAGCTCAGGCT 0.403000 45 247 0 0 1 0 0 KIF21A 55605 broad.mit.edu 37 12 39760928 39760928 + Silent SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:39760928T>C ENST00000395670.3 - 5 1058 c.639A>G c.(637-639)acA>acG p.T213T KIF21A_ENST00000541463.2_Silent_p.T213T|KIF21A_ENST00000361961.3_Silent_p.T213T|KIF21A_ENST00000544797.2_Silent_p.T213T|KIF21A_ENST00000361418.5_Silent_p.T213T Q7Z4S6 KI21A_HUMAN kinesin family member 21A 213 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) TACTGGCAGTTGTCCGGGATA 0.413000 12 29 0 0 1 0 0 SSBP2 23635 broad.mit.edu 37 5 80770329 80770329 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:80770329G>A ENST00000320672.4 - 7 695 c.485C>T c.(484-486)cCa>cTa p.P162L SSBP2_ENST00000509053.1_Missense_Mutation_p.P132L|SSBP2_ENST00000515395.1_Missense_Mutation_p.P132L|SSBP2_ENST00000514493.1_Missense_Mutation_p.P132L|SSBP2_ENST00000505980.1_Missense_Mutation_p.P142L NM_001256732.1|NM_001256733.1|NM_012446.3 NP_001243661.1|NP_001243662.1|NP_036578.2 P81877 SSBP2_HUMAN single-stranded DNA binding protein 2 162 Gly-rich.|Pro-rich. regulation of transcription, DNA-dependent cytoplasm|nucleus single-stranded DNA binding SSBP2/JAK2(4) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338) OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29) TTGTCGAGTTGGATCCATTCC 0.343000 9 4 0 0 1 0 0 LRRC66 339977 broad.mit.edu 37 4 52861586 52861586 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:52861586G>A ENST00000343457.3 - 4 1608 c.1602C>T c.(1600-1602)ctC>ctT p.L534L NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 534 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 TCCATTCTCCGAGAATATCAT 0.512000 24 64 0 0 1 0 0 CLSTN3 9746 broad.mit.edu 37 12 7289621 7289621 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:7289621C>T ENST00000537408.1 + 6 1699 c.1161C>T c.(1159-1161)acC>acT p.T387T CLSTN3_ENST00000266546.6_Silent_p.T375T Q9BQT9 CSTN3_HUMAN calsyntenin 3 375 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 ACCACTTCACCCTGTCCTTCT 0.587000 15 42 0 0 1 0 0 TRIML2 205860 broad.mit.edu 37 4 189013033 189013033 + Missense_Mutation SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:189013033T>C ENST00000512729.1 - 7 1032 c.658A>G c.(658-660)Act>Gct p.T220A TRIML2_ENST00000326754.3_Missense_Mutation_p.T245A NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 220 B30.2/SPRY. ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) AATCTCATAGTTCTCAGGTCC 0.512000 40 33 0 0 1 0 0 AMICA1 120425 broad.mit.edu 37 11 118081248 118081248 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:118081248C>T ENST00000292067.7 - 3 789 c.348G>A c.(346-348)gtG>gtA p.V116V AMICA1_ENST00000526620.1_Silent_p.V87V|AMICA1_ENST00000533261.1_Silent_p.V126V|AMICA1_ENST00000356289.5_Silent_p.V126V NM_153206.2 NP_694938.2 Q86YT9 JAML1_HUMAN adhesion molecule, interacts with CXADR antigen 1 126 Ig-like V-type 1. blood coagulation|cell adhesion|leukocyte migration|regulation of immune response cell junction|integral to membrane central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2) 20 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) CCTTCTTGAACACCTGGCTCT 0.512000 12 29 0 0 1 0 0 WNK3 65267 broad.mit.edu 37 X 54264797 54264797 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:54264797G>A ENST00000354646.2 - 19 4430 c.3992C>T c.(3991-3993)tCa>tTa p.S1331L WNK3_ENST00000375169.3_Missense_Mutation_p.S1284L|WNK3_ENST00000375159.2_Missense_Mutation_p.S1331L NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 1284 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 CCGCTGAAATGATCCACTCAT 0.443000 21 5 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215963404 215963404 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:215963404C>T ENST00000366943.2 - 51 10565 c.10179G>A c.(10177-10179)atG>atA p.M3393I USH2A_ENST00000307340.3_Missense_Mutation_p.M3393I O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3393 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CAATTACCTTCATCATCATTC 0.333000 HNSCC(13;0.011) 5 60 0 0 1 0 0 FAM160B2 64760 broad.mit.edu 37 8 21956044 21956044 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:21956044C>T ENST00000289921.7 + 7 925 c.879C>T c.(877-879)atC>atT p.I293I NM_022749.5 NP_073586.5 Q86V87 F16B2_HUMAN family with sequence similarity 160, member B2 293 endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1) 9 GCCCTGCGATCGTCCGGCACC 0.642000 11 17 0 0 1 0 0 CHD8 57680 broad.mit.edu 37 14 21870592 21870592 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:21870592G>A ENST00000399982.2 - 18 3849 c.3785C>T c.(3784-3786)tCc>tTc p.S1262F CHD8_ENST00000557364.1_Missense_Mutation_p.S1262F|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Missense_Mutation_p.S983F NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1262 Helicase C-terminal. ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) TCTCTCGTAGGAATTACGAGT 0.483000 8 34 0 0 1 0 0 ZMYND8 23613 broad.mit.edu 37 20 45850067 45850067 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:45850067G>A ENST00000311275.7 - 20 3508 c.3255C>T c.(3253-3255)tcC>tcT p.S1085S ZMYND8_ENST00000471951.2_Silent_p.S1105S|ZMYND8_ENST00000355972.4_Silent_p.S1085S|ZMYND8_ENST00000540497.1_Silent_p.S1033S|ZMYND8_ENST00000396281.4_Silent_p.S1085S|ZMYND8_ENST00000262975.4_Silent_p.S1039S|ZMYND8_ENST00000372023.3_Silent_p.S1007S|ZMYND8_ENST00000360911.3_Silent_p.S1034S|ZMYND8_ENST00000536340.1_Silent_p.S1112S|ZMYND8_ENST00000461685.1_Silent_p.S1059S|ZMYND8_ENST00000458360.2_Silent_p.S953S|ZMYND8_ENST00000446994.2_Silent_p.S976S|ZMYND8_ENST00000352431.2_Silent_p.S1059S Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 1085 protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) TCCCCTGGGAGGACTTATTTA 0.537000 22 35 0 0 1 0 0 SYT10 341359 broad.mit.edu 37 12 33579075 33579075 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:33579075G>A ENST00000228567.3 - 2 803 c.507C>T c.(505-507)acC>acT p.T169T SYT10_ENST00000535526.1_5'UTR|SYT10_ENST00000567656.1_5'UTR NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 169 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) TTCCTTACCGGGTTGATGACG 0.398000 27 94 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152275974 152275974 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:152275974C>T ENST00000368799.1 - 3 11423 c.11388G>A c.(11386-11388)agG>agA p.R3796R FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3796 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGGCATCAGACCTTCCCTGGG 0.572000 Ichthyosis 94 625 0 0 1 0 0 EXT2 2132 broad.mit.edu 37 11 44148390 44148390 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:44148390C>T ENST00000395673.3 + 6 1119 c.1063C>T c.(1063-1065)Cgt>Tgt p.R355C EXT2_ENST00000358681.4_Missense_Mutation_p.R322C|EXT2_ENST00000343631.3_Missense_Mutation_p.R322C|EXT2_ENST00000533608.1_Missense_Mutation_p.R322C NM_000401.3 NP_000392.3 Q93063 EXT2_HUMAN exostosin glycosyltransferase 2 322 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 32 TGTGGTTCTTCGTGGAGCTCG 0.478000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Hereditary Multiple Exostoses 32 94 0 0 1 0 0 ADAD2 161931 broad.mit.edu 37 16 84230343 84230343 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:84230343C>T ENST00000268624.3 + 10 1956 c.1863C>T c.(1861-1863)ctC>ctT p.L621L ADAD2_ENST00000315906.5_Silent_p.L539L|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA NM_139174.3 NP_631913.3 Q8NCV1 ADAD2_HUMAN adenosine deaminase domain containing 2 539 RNA processing intracellular adenosine deaminase activity|double-stranded RNA binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1) 13 AGCCCTACCTCCTGGCCTTGA 0.682000 35 60 0 0 1 0 0 OR10G7 390265 broad.mit.edu 37 11 123909028 123909028 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:123909028G>A ENST00000330487.5 - 1 689 c.681C>T c.(679-681)atC>atT p.I227I NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) CTGAGGTGCGGATCCGCAGGA 0.537000 17 56 0 0 1 0 0 KCNA10 3744 broad.mit.edu 37 1 111060034 111060034 + Missense_Mutation SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:111060034T>C ENST00000369771.2 - 1 1763 c.1376A>G c.(1375-1377)aAc>aGc p.N459S NM_005549.2 NP_005540.1 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 10 459 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1) 35 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) GTAATTGAAGTTGGAGACAAT 0.522000 36 9 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141755436 141755436 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:141755436C>T ENST00000475668.2 + 28 3447 c.3393C>T c.(3391-3393)ctC>ctT p.L1131L MGAM_ENST00000549489.2_Silent_p.L1131L O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1131 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CCAAGTACCTCTATGGCTTTG 0.532000 30 22 0 0 1 0 0 KIAA1211L 343990 broad.mit.edu 37 2 99463230 99463230 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:99463230G>A ENST00000397899.2 - 2 365 c.34C>T c.(34-36)Cgg>Tgg p.R12W KIAA1211L_ENST00000462314.1_5'UTR NM_207362.2 NP_997245.2 KIAA1211-like GCAGCCTCCCGAAGCTTAATG 0.512000 47 20 0 0 1 0 0 MTMR4 9110 broad.mit.edu 37 17 56573456 56573456 + Nonsense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:56573456G>A ENST00000323456.5 - 16 2171 c.2047C>T c.(2047-2049)Cag>Tag p.Q683* MTMR4_ENST00000579925.1_Nonsense_Mutation_p.Q626* NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 683 cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) TAGTCTTTCTGGCTGCTGGGC 0.493000 122 16 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9064344 9064344 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:9064344G>A ENST00000397910.4 - 3 23305 c.23102C>T c.(23101-23103)cCt>cTt p.P7701L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7703 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGTGGAAACAGGATGAGGTGA 0.562000 18 40 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76753131 76753131 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr18:76753131C>T ENST00000536229.3 + 1 1450 c.741C>T c.(739-741)atC>atT p.I247I SALL3_ENST00000575389.2_Silent_p.I380I|SALL3_ENST00000537592.2_Silent_p.I380I Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 380 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) TGGTCAGCATCGCGGCCACGG 0.697000 6 7 0 0 1 0 0 ROBO3 64221 broad.mit.edu 37 11 124745039 124745039 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:124745039C>T ENST00000397801.1 + 14 2298 c.2106C>T c.(2104-2106)ttC>ttT p.F702F ROBO3_ENST00000538940.1_Silent_p.F680F NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 702 Fibronectin type-III 2. axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) TGCAAGGTTTCCGGGTGTCTT 0.607000 6 8 0 0 1 0 0 HTR4 3360 broad.mit.edu 37 5 147889410 147889410 + Silent SNP A A G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:147889410A>G ENST00000360693.3 - 6 823 c.685T>C c.(685-687)Tta>Cta p.L229L HTR4_ENST00000521735.1_Silent_p.L229L|HTR4_ENST00000377888.3_Silent_p.L229L|HTR4_ENST00000314512.6_Silent_p.L229L|HTR4_ENST00000354217.2_Silent_p.L229L|HTR4_ENST00000362016.2_Silent_p.L243L|HTR4_ENST00000520514.1_Silent_p.L229L|HTR4_ENST00000521530.1_Silent_p.L229L|HTR4_ENST00000517929.1_Silent_p.L229L NM_001040173.2 NP_001035263.1 Q13639 5HT4R_HUMAN 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled 229 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) GCCCGTTGTAACATCTGGATC 0.557000 15 9 0 0 1 0 0 GJA10 84694 broad.mit.edu 37 6 90604243 90604243 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:90604243C>T ENST00000369352.1 + 1 56 c.56C>T c.(55-57)aCc>aTc p.T19I NM_032602.1 NP_115991.1 Q969M2 CXA10_HUMAN gap junction protein, alpha 10, 62kDa 19 synaptic transmission connexon complex|integral to membrane gap junction channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1) 37 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) TCCCACTCAACCATAGTGGGG 0.458000 71 65 0 0 1 0 0 ACTL9 284382 broad.mit.edu 37 19 8808104 8808104 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:8808104G>A ENST00000324436.3 - 1 1068 c.948C>T c.(946-948)tcC>tcT p.S316S NM_178525.3 NP_848620.2 Q8TC94 ACTL9_HUMAN actin-like 9 316 cytoplasm|cytoskeleton NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 36 TGGCCATGGTGGAGAGGCCGA 0.652000 18 55 0 0 1 0 0 TMEM38A 79041 broad.mit.edu 37 19 16791316 16791316 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:16791316C>T ENST00000187762.2 + 3 481 c.390C>T c.(388-390)atC>atT p.I130I NM_024074.1 NP_076979.1 Q9H6F2 TM38A_HUMAN transmembrane protein 38A 130 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1) 15 TCCGCAAGATCGCGGTGGGCA 0.527000 47 134 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73066268 73066268 + RNA SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:73066268G>A ENST00000429829.1 - 0 6320 NR_001564.2 TAGTGCATAGGATCCCAGACG 0.488000 23 4 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6189052 6189052 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:6189052C>T ENST00000262450.3 - 23 3564 c.3465G>A c.(3463-3465)gaG>gaA p.E1155E CHD5_ENST00000378021.1_Silent_p.E12E NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1155 Helicase C-terminal. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) TGATGCGCTCCTCCACCGAGG 0.657000 38 21 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153026613 153026613 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:153026613G>A ENST00000285900.5 + 3 689 c.346G>A c.(346-348)Gat>Aat p.D116N GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000521843.2_Missense_Mutation_p.D47N|GRIA1_ENST00000448073.4_Missense_Mutation_p.D126N|GRIA1_ENST00000340592.5_Missense_Mutation_p.D116N|GRIA1_ENST00000518783.1_Missense_Mutation_p.D126N NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 116 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CTTTCCCGTTGATACATCCAA 0.478000 46 16 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103120150 103120150 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:103120150C>T ENST00000295269.4 + 3 1421 c.964C>T c.(964-966)Ctc>Ttc p.L322F NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 322 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 AACCCTCTATCTCTCCGGCAT 0.428000 21 65 0 0 1 0 0 FGFRL1 53834 broad.mit.edu 37 4 1018763 1018763 + Silent SNP C C T rs146112374 TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:1018763C>T ENST00000398484.2 + 8 1723 c.1143C>T c.(1141-1143)atC>atT p.I381I FGFRL1_ENST00000510644.1_Silent_p.I381I|FGFRL1_ENST00000504138.1_Silent_p.I381I|FGFRL1_ENST00000264748.6_Silent_p.I381I Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 381 regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CCGTGGTCATCGGCATCCCAG 0.682000 13 41 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112650407 112650407 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:112650407G>A ENST00000550722.1 - 49 7470 c.7075C>T c.(7075-7077)Cct>Tct p.P2359S HECTD4_ENST00000430131.2_Missense_Mutation_p.P2083S|HECTD4_ENST00000377560.5_Missense_Mutation_p.P2333S NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 TGTCCCGGAGGAGGTGGAGTC 0.532000 26 29 0 0 1 0 0 MGAT4C 25834 broad.mit.edu 37 12 86373909 86373909 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:86373909G>A ENST00000604798.1 - 8 1799 c.595C>T c.(595-597)Cgt>Tgt p.R199C MGAT4C_ENST00000548651.1_Missense_Mutation_p.R199C|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R199C|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R228C|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R199C|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R199C Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 199 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 TGCTTGGAACGAAATTTGACT 0.338000 13 49 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50960188 50960188 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:50960188C>T ENST00000374103.4 - 5 670 c.585G>A c.(583-585)cgG>cgA p.R195R OGDHL_ENST00000432695.1_5'UTR|OGDHL_ENST00000419399.1_Silent_p.R138R NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 195 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 CCTCCAGGCGCCGAATGATCT 0.562000 36 8 0 0 1 0 0 LPPR4 9890 broad.mit.edu 37 1 99771753 99771753 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:99771753C>T ENST00000370185.3 + 7 1976 c.1479C>T c.(1477-1479)gaC>gaT p.D493D LPPR4_ENST00000370184.1_Silent_p.D335D|LPPR4_ENST00000457765.1_Silent_p.D435D NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 493 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) TGAATGGAGACCACCATGGTC 0.552000 207 70 0 0 1 0 0 SLC39A3 29985 broad.mit.edu 37 19 2737140 2737140 + Missense_Mutation SNP C C T rs35127617 TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:2737140C>T ENST00000455372.2 - 2 321 c.116G>A c.(115-117)cGc>cAc p.R39H AC006538.4_ENST00000586572.1_Missense_Mutation_p.R39H|SLC39A3_ENST00000545664.1_Missense_Mutation_p.R39H|SLC39A3_ENST00000269740.4_Missense_Mutation_p.R39H NM_213568.1 NP_998733.1 Q9BRY0 S39A3_HUMAN solute carrier family 39 (zinc transporter), member 3 39 integral to membrane|plasma membrane zinc ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 10 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) CTTTTTCGAGCGATGGGCCTT 0.552000 5 25 0 0 1 0 0 MYOF 26509 broad.mit.edu 37 10 95111581 95111581 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:95111581G>A ENST00000371501.4 - 33 3626 c.3504C>T c.(3502-3504)ttC>ttT p.F1168F MYOF_ENST00000371502.4_Silent_p.F1168F|MYOF_ENST00000358334.5_Silent_p.F1155F|MYOF_ENST00000359263.4_Silent_p.F1168F Q9NZM1 MYOF_HUMAN myoferlin 1168 C2 4. blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TCCGATGGAGGAAACAGATAT 0.438000 37 12 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 10274119 10274119 + Silent SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:10274119T>C ENST00000396573.2 - 3 459 c.150A>G c.(148-150)gaA>gaG p.E50E GRIN2A_ENST00000396575.2_Silent_p.E50E|GRIN2A_ENST00000562109.1_Silent_p.E50E|GRIN2A_ENST00000404927.2_Silent_p.E50E|GRIN2A_ENST00000330684.3_Silent_p.E50E NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 50 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GTGTTCGAAGTTCGCGCTCTG 0.677000 36 85 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 43985983 43985983 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:43985983G>A ENST00000262726.7 - 24 3256 c.3003C>T c.(3001-3003)acC>acT p.T1001T EFCAB6_ENST00000396231.2_Silent_p.T849T NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 1001 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) GCTCCCCTTCGGTAAGAGAAC 0.408000 39 63 0 0 1 0 0 CDH16 1014 broad.mit.edu 37 16 66947073 66947073 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:66947073G>A ENST00000299752.4 - 9 1208 c.1015C>T c.(1015-1017)Cgt>Tgt p.R339C CDH16_ENST00000570262.1_Missense_Mutation_p.R259C|CDH16_ENST00000565796.1_Missense_Mutation_p.R339C|CDH16_ENST00000568632.1_Missense_Mutation_p.R242C|CDH16_ENST00000394055.3_Missense_Mutation_p.R339C NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 339 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) GTGGGGTCACGGGGAGGGCAG 0.582000 65 113 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36893779 36893779 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:36893779G>A ENST00000429976.2 - 13 4722 c.4475C>T c.(4474-4476)tCt>tTt p.S1492F TRANK1_ENST00000301807.6_Missense_Mutation_p.S942F|TRANK1_ENST00000428977.2_Missense_Mutation_p.S942F O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1492 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 GCGATCAAAAGATTCTGGGAA 0.438000 11 5 0 0 1 0 0 SNX31 169166 broad.mit.edu 37 8 101609037 101609037 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:101609037C>T ENST00000311812.2 - 10 958 c.808G>A c.(808-810)Gga>Aga p.G270R SNX31_ENST00000428383.2_Missense_Mutation_p.G171R NM_152628.3 NP_689841.3 Q8N9S9 SNX31_HUMAN sorting nexin 31 270 cell communication|protein transport phosphatidylinositol binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1) 26 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) TGCAGGTATCCATAGTGCCGT 0.527000 37 95 0 0 1 0 0 NDST3 9348 broad.mit.edu 37 4 119026174 119026174 + Splice_Site SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:119026174C>T ENST00000296499.5 + 3 1386 c.981_splice c.e3-1 p.A328_splice NDST3_ENST00000433996.2_Intron NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 328 Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 GTATTTCAGGCCCTGCTTGAT 0.333000 14 55 0 0 1 0 0 NFAT5 10725 broad.mit.edu 37 16 69726657 69726657 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:69726657C>T ENST00000349945.1 + 14 4199 c.2647C>T c.(2647-2649)Cct>Tct p.P883S NFAT5_ENST00000567239.1_Missense_Mutation_p.P976S|NFAT5_ENST00000393742.2_Missense_Mutation_p.P883S|NFAT5_ENST00000354436.2_Missense_Mutation_p.P959S|NFAT5_ENST00000432919.1_Missense_Mutation_p.P977S|NFAT5_ENST00000566899.1_Missense_Mutation_p.P883S NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 959 Poly-Gln. excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 TTCTTCTCCTCCTGCAGTTTC 0.448000 25 40 0 0 1 0 0 AIRE 326 broad.mit.edu 37 21 45706962 45706962 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr21:45706962G>A ENST00000291582.5 + 3 536 c.409G>A c.(409-411)Gag>Aag p.E137K NM_000383.3 NP_000374.1 O43918 AIRE_HUMAN autoimmune regulator 137 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1) 14 Colorectal(79;0.0806) GGCCTCAGAAGAGGCTCGAGC 0.692000 Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy 24 30 0 0 1 0 0 CPM 1368 broad.mit.edu 37 12 69265632 69265632 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:69265632G>A ENST00000551568.1 - 4 423 c.363C>T c.(361-363)atC>atT p.I121I CPM_ENST00000338356.3_Silent_p.I121I|CPM_ENST00000546373.1_Silent_p.I121I NM_001005502.2|NM_198320.3 NP_001005502.1|NP_938079.1 P14384 CBPM_HUMAN carboxypeptidase M 121 anatomical structure morphogenesis|proteolysis anchored to membrane|cytoplasm|nucleus|plasma membrane metallocarboxypeptidase activity|zinc ion binding large_intestine(1)|lung(6)|prostate(2) 9 all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06) all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) TGGAAGGCATGATGTGTATCC 0.458000 20 51 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58141765 58141765 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:58141765C>T ENST00000295956.4 + 41 7016 c.6851C>T c.(6850-6852)tCc>tTc p.S2284F FLNB_ENST00000358537.3_Missense_Mutation_p.S2260F|FLNB_ENST00000348383.5_Missense_Mutation_p.S2243F|FLNB_ENST00000429972.2_Missense_Mutation_p.S2273F|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000419752.2_Missense_Mutation_p.S2104F|FLNB_ENST00000493452.1_Missense_Mutation_p.S2091F|FLNB_ENST00000490882.1_Missense_Mutation_p.S2315F NM_001457.3 NP_001448.2 O75369 FLNB_HUMAN filamin B, beta 2284 Interaction with INPPL1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) ATCGCACCCTCCGACGACGCC 0.582000 26 25 0 0 1 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12855850 12855850 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:12855850C>T ENST00000332296.7 + 4 1233 c.1130C>T c.(1129-1131)tCc>tTc p.S377F PRAMEF1_ENST00000400814.3_Missense_Mutation_p.S132F NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 377 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AGCCGGTGCTCCCAGCTCACC 0.557000 5 32 0 0 1 0 0 AGER 177 broad.mit.edu 37 6 32150705 32150705 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:32150705G>A ENST00000375076.4 - 6 705 c.604C>T c.(604-606)Ccc>Tcc p.P202S AGER_ENST00000375069.3_Missense_Mutation_p.P101S|AGER_ENST00000438221.2_Missense_Mutation_p.P218S|AGER_ENST00000375070.3_Missense_Mutation_p.P233S|AGER_ENST00000375067.3_Missense_Mutation_p.P188S|AGER_ENST00000375055.2_Missense_Mutation_p.P202S|RNF5_ENST00000427134.2_Intron|AGER_ENST00000375065.5_Intron NM_001136.4|NM_001206929.1|NM_001206932.1 NP_001127.1|NP_001193858.1|NP_001193861.1 Q15109 RAGE_HUMAN advanced glycosylation end product-specific receptor 202 Ig-like C2-type 1. cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity integral to plasma membrane S100 alpha binding|transmembrane receptor activity breast(1)|endometrium(1)|lung(5)|pancreas(2) 9 GTGGGACGGGGATCTCCTCCC 0.627000 13 60 0 0 1 0 0 FNDC3A 22862 broad.mit.edu 37 13 49776048 49776048 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr13:49776048C>T ENST00000492622.2 + 24 3405 c.3100C>T c.(3100-3102)Ctc>Ttc p.L1034F FNDC3A_ENST00000541916.1_Missense_Mutation_p.L1034F|FNDC3A_ENST00000398316.3_Missense_Mutation_p.L978F NM_001079673.1 NP_001073141.1 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 1034 Fibronectin type-III 8. Golgi membrane|integral to membrane endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1) 41 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) GGAAGGTCCCCTCTCCCAAGA 0.348000 15 22 0 0 1 0 0 TMC2 117532 broad.mit.edu 37 20 2539344 2539344 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:2539344G>A ENST00000358864.1 + 3 340 c.325G>A c.(325-327)Gag>Aag p.E109K NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 109 Arg/Asp/Glu/Lys-rich (highly charged). integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 CTCCTTCCAGGAGCGGACAGC 0.632000 6 14 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167489074 167489074 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:167489074C>T ENST00000519204.1 + 6 1074 c.956C>T c.(955-957)tCg>tTg p.S319L TENM2_ENST00000403607.2_Missense_Mutation_p.S273L|TENM2_ENST00000520394.1_Missense_Mutation_p.S208L|TENM2_ENST00000545108.1_Missense_Mutation_p.S440L|TENM2_ENST00000518659.1_Missense_Mutation_p.S440L teneurin transmembrane protein 2 GTGCCCTGGTCGTTGAAAAAC 0.408000 12 6 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16860305 16860305 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:16860305G>A ENST00000524140.2 + 6 1270 c.852G>A c.(850-852)ctG>ctA p.L284L NWD1_ENST00000552788.1_Silent_p.L284L|NWD1_ENST00000549814.1_Silent_p.L284L|NWD1_ENST00000523826.1_Silent_p.L78L|NWD1_ENST00000379808.3_Silent_p.L284L|NWD1_ENST00000339803.6_Silent_p.L149L NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 284 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TCCGTGAGCTGGATACGGCCG 0.597000 13 32 0 0 1 0 0 LHX9 56956 broad.mit.edu 37 1 197898345 197898345 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:197898345G>A ENST00000367390.3 + 6 1150 c.1123G>A c.(1123-1125)Gaa>Aaa p.E375K LHX9_ENST00000367387.4_Missense_Mutation_p.E384K|LHX9_ENST00000337020.2_Intron|LHX9_ENST00000367391.1_Intron|LHX9_ENST00000561173.1_Intron NM_001014434.1 NP_001014434.1 Q9NQ69 LHX9_HUMAN LIM homeobox 9 384 motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1) 35 GGACAGCCACGAATCCGGAAG 0.418000 20 102 0 0 1 0 0 VIL1 7429 broad.mit.edu 37 2 219295453 219295453 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:219295453C>T ENST00000248444.5 + 10 1042 c.954C>T c.(952-954)ttC>ttT p.F318F VIL1_ENST00000392114.2_Silent_p.F7F|VIL1_ENST00000440053.1_Silent_p.F318F NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 318 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCCAGAACTTCATCAAAGCCA 0.547000 45 20 0 0 1 0 0 UGT2B4 7363 broad.mit.edu 37 4 70346474 70346474 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:70346474G>A ENST00000305107.6 - 6 1511 c.1465C>T c.(1465-1467)Cac>Tac p.H489Y UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_3'UTR|UGT2B4_ENST00000381096.3_Missense_Mutation_p.H353Y NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 489 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 TCCAAAGAGTGGTACTGGAAC 0.498000 65 54 0 0 1 0 0 GALNT15 117248 broad.mit.edu 37 3 16254193 16254193 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:16254193C>T ENST00000339732.5 + 6 1818 c.1315C>T c.(1315-1317)Cgc>Tgc p.R439C GALNT15_ENST00000437509.1_Missense_Mutation_p.R439C NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 p.R439C(1) GAACAGGGTTCGCATTGCTGA 0.547000 39 31 0 0 1 0 0 POLR2J4 84820 broad.mit.edu 37 7 44012813 44012813 + RNA SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:44012813G>A ENST00000427076.1 - 0 1003 NR_003655.2 ACTCACCTGAGGGCATCCTCA 0.607000 6 9 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 71218807 71218807 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:71218807G>A ENST00000393567.2 - 3 372 c.222C>T c.(220-222)atC>atT p.I74I HYDIN_ENST00000288168.10_Silent_p.I91I|HYDIN_ENST00000448691.1_Silent_p.I74I|HYDIN_ENST00000541601.1_Silent_p.I91I|HYDIN_ENST00000448089.2_Silent_p.I74I|HYDIN_ENST00000393550.2_Silent_p.I74I|HYDIN_ENST00000321489.5_Silent_p.I74I|HYDIN_ENST00000538248.1_Silent_p.I101I NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 74 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) AGAGTTCGATGATCTGTGGTC 0.468000 28 39 0 0 1 0 0 ZNF479 90827 broad.mit.edu 37 7 57188761 57188761 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:57188761C>T ENST00000331162.4 - 5 631 c.361G>A c.(361-363)Gag>Aag p.E121K NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 121 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) TGTAATTTCTCATGTCCACAT 0.388000 37 28 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32492714 32492714 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr21:32492714G>A ENST00000286827.3 - 29 5219 c.4748C>T c.(4747-4749)cCc>cTc p.P1583L TIAM1_ENST00000541036.1_Missense_Mutation_p.P1523L NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1583 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 TTTCCTGGAGGGGGCAAAGTC 0.557000 4 12 0 0 1 0 0 CXCR2 3579 broad.mit.edu 37 2 219000148 219000148 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:219000148G>A ENST00000318507.2 + 3 1051 c.624G>A c.(622-624)cgG>cgA p.R208R NM_001557.3 NP_001548.1 P25025 CXCR2_HUMAN chemokine (C-X-C motif) receptor 2 208 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1) 22 CAAACTGGCGGATGCTGTTAC 0.542000 21 108 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56515242 56515242 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:56515242G>A ENST00000390649.3 + 2 223 c.223G>A c.(223-225)Gaa>Aaa p.E75K NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 75 DAPIN. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GCTAGACAAGGAAGAATTTCA 0.433000 19 23 0 0 1 0 0 PSG9 5678 broad.mit.edu 37 19 43771950 43771950 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:43771950G>A ENST00000244293.7 - 2 482 c.416C>T c.(415-417)aCc>aTc p.T139I PSG9_ENST00000418820.2_Missense_Mutation_p.T139I|PSG9_ENST00000596730.1_Missense_Mutation_p.T139I|PSG9_ENST00000270077.3_Missense_Mutation_p.T139I|PSG9_ENST00000593948.1_Missense_Mutation_p.T139I|PSG9_ENST00000443718.3_Missense_Mutation_p.T139I|PSG9_ENST00000291752.5_Missense_Mutation_p.T139I Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 139 Ig-like V-type. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) TAAGGTGAAGGTGAAATGTCG 0.488000 35 96 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179585273 179585273 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:179585273C>T ENST00000589042.1 - 80 23440 c.23216G>A c.(23215-23217)cGa>cAa p.R7739Q TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R7422Q|TTN_ENST00000342992.6_Missense_Mutation_p.R6495Q NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7422 Ig-like 59. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AACCTGCTTTCGATCTTTAAC 0.388000 8 22 0 0 1 0 0 OR5AK2 390181 broad.mit.edu 37 11 56756587 56756587 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:56756587G>A ENST00000326855.2 + 1 241 c.199G>A c.(199-201)Gct>Act p.A67T NM_001005323.1 NP_001005323.1 Q8NH90 O5AK2_HUMAN olfactory receptor, family 5, subfamily AK, member 2 67 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 ACAACATTTGGCTTTTGTTGA 0.368000 35 28 0 0 1 0 0 OR5I1 10798 broad.mit.edu 37 11 55703324 55703324 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:55703324G>A ENST00000301532.3 - 1 552 c.553C>T c.(553-555)Ccc>Tcc p.P185S NM_006637.1 NP_006628.1 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, member 1 185 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P185A(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 TTAAGCAGGGGAGGGAGGTCA 0.403000 15 9 0 0 1 0 0 ACMSD 130013 broad.mit.edu 37 2 135596255 135596255 + Translation_Start_Site SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:135596255G>A ENST00000356140.5 + 1 139 c.3G>A c.(1-3)atG>atA p.M1I AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000392928.1_5'UTR|ACMSD_ENST00000283054.4_5'UTR NM_138326.2 NP_612199.2 Q8TDX5 ACMSD_HUMAN aminocarboxymuconate semialdehyde decarboxylase 1 quinolinate metabolic process|tryptophan catabolic process cytosol aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding endometrium(3)|large_intestine(4)|lung(6)|skin(1) 14 BRCA - Breast invasive adenocarcinoma(221;0.115) CTGTGGAGATGAAAATTGACA 0.348000 34 15 0 0 1 0 0 APBA1 320 broad.mit.edu 37 9 72064648 72064648 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:72064648G>A ENST00000265381.4 - 10 2255 c.2033C>T c.(2032-2034)tCc>tTc p.S678F NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 678 PDZ 1. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 GGGGAGGATGGATCCCCAGCC 0.483000 15 37 0 0 1 0 0 TAS2R7 50837 broad.mit.edu 37 12 10954402 10954402 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:10954402G>A ENST00000240687.2 - 1 824 c.768C>T c.(766-768)tcC>tcT p.S256S NM_023919.2 NP_076408.1 Q9NYW3 TA2R7_HUMAN taste receptor, type 2, member 7 256 sensory perception of taste integral to membrane taste receptor activity kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3) 10 TAAAGTAGCTGGAGGTGGCAA 0.453000 22 28 0 0 1 0 0 LPIN1 23175 broad.mit.edu 37 2 11943103 11943103 + Missense_Mutation SNP C C T rs113391634 TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:11943103C>T ENST00000256720.2 + 14 1942 c.1849C>T c.(1849-1851)Cct>Tct p.P617S LPIN1_ENST00000396099.1_Missense_Mutation_p.P659S|LPIN1_ENST00000404113.2_Missense_Mutation_p.P118S|LPIN1_ENST00000425416.2_Missense_Mutation_p.P623S|LPIN1_ENST00000396097.1_Missense_Mutation_p.P347S|LPIN1_ENST00000449576.2_Missense_Mutation_p.P702S NM_145693.2 NP_663731.1 Q14693 LPIN1_HUMAN lipin 1 617 fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) AGGCCACCTCCCTCTTCTGCC 0.542000 34 163 0 0 1 0 0 OVGP1 5016 broad.mit.edu 37 1 111968010 111968010 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:111968010G>A ENST00000369732.3 - 4 367 c.312C>T c.(310-312)acC>acT p.T104T OVGP1_ENST00000540696.1_Silent_p.T44T NM_002557.3 NP_002548.3 Q12889 OVGP1_HUMAN oviductal glycoprotein 1, 120kDa 104 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 39 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) CTCACCTTGAGGTGCCAAAGT 0.547000 19 10 0 0 1 0 0 PTX4 390667 broad.mit.edu 37 16 1537667 1537667 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:1537667G>A ENST00000447419.2 - 2 471 c.446C>T c.(445-447)gCc>gTc p.A149V PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Missense_Mutation_p.A144V Q96A99 PTX4_HUMAN pentraxin 4, long 149 extracellular region metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 GTCCTGCAGGGCGTCCCTCTG 0.716000 20 39 0 0 1 0 0 OR2L13 284521 broad.mit.edu 37 1 248263377 248263377 + Missense_Mutation SNP A A C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:248263377A>C ENST00000366478.2 + 3 1037 c.700A>C c.(700-702)Aaa>Caa p.K234Q OR2L13_ENST00000358120.2_Missense_Mutation_p.K234Q NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) GGAGGGGAGAAAAAAGGCCTT 0.448000 62 22 0 0 1 0 0 KCNQ5 56479 broad.mit.edu 37 6 73821044 73821044 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:73821044C>T ENST00000342056.2 + 7 1441 c.1043C>T c.(1042-1044)tCa>tTa p.S348L KCNQ5_ENST00000414165.2_Missense_Mutation_p.S348L|KCNQ5_ENST00000403813.2_Missense_Mutation_p.S348L|KCNQ5_ENST00000402622.2_Missense_Mutation_p.S348L|KCNQ5_ENST00000370392.1_Missense_Mutation_p.S348L|KCNQ5_ENST00000370398.1_Missense_Mutation_p.S348L|KCNQ5_ENST00000355635.3_Missense_Mutation_p.S348L|KCNQ5_ENST00000355194.4_Missense_Mutation_p.S348L NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 348 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) ATTCTTGGCTCAGGTTTTGCA 0.348000 15 40 0 0 1 0 0 RFX4 5992 broad.mit.edu 37 12 107080822 107080822 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:107080822G>A ENST00000392842.1 + 6 952 c.538G>A c.(538-540)Gaa>Aaa p.E180K RFX4_ENST00000357881.4_Missense_Mutation_p.E189K|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Missense_Mutation_p.E86K NM_213594.2 NP_998759.1 Q33E94 RFX4_HUMAN regulatory factor X, 4 (influences HLA class II expression) 180 transcription, DNA-dependent nucleus DNA binding NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1) 35 ACTGCTGCCAGAATTTCCCAA 0.502000 40 85 0 0 1 0 0 ABCB8 11194 broad.mit.edu 37 7 150731374 150731374 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:150731374G>A ENST00000358849.4 + 3 516 c.423G>A c.(421-423)gcG>gcA p.A141A ABCB8_ENST00000498578.1_Silent_p.A141A|ABCB8_ENST00000477719.1_Silent_p.A141A|ABCB8_ENST00000542328.1_Silent_p.A53A|ABCB8_ENST00000297504.6_Silent_p.A158A|ABCB8_ENST00000477092.1_Silent_p.A141A|ABCB8_ENST00000356058.4_Silent_p.A178A|ABCB8_ENST00000493338.1_3'UTR NM_007188.3 NP_009119.2 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 8 158 ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCTTGGGTGCGGCACTCGTGA 0.592000 12 56 0 0 1 0 0 C1QA 712 broad.mit.edu 37 1 22965503 22965503 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:22965503G>A ENST00000374642.3 + 3 545 c.341G>A c.(340-342)aGg>aAg p.R114K C1QA_ENST00000402322.1_Missense_Mutation_p.R114K NM_015991.2 NP_057075.1 P02745 C1QA_HUMAN complement component 1, q subcomponent, A chain 114 C1q. cell-cell signaling|complement activation, classical pathway|innate immune response collagen|complement component C1 complex autonomic_ganglia(1)|liver(1)|lung(3)|skin(1) 6 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GACCAGCCGAGGCCAGCCTTC 0.637000 3 31 0 0 1 0 0 TSPAN10 83882 broad.mit.edu 37 17 79609460 79609460 + RNA SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:79609460C>T ENST00000328585.4 + 0 112 TSPAN10_ENST00000572675.1_RNA NM_031945.3 NP_114151.3 Q9H1Z9 TSN10_HUMAN tetraspanin 10 integral to membrane ovary(1) 1 all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) GGAGAGGAGCCCCTTACTGTC 0.642000 47 11 0 0 1 0 0 CCDC176 80127 broad.mit.edu 37 14 74486181 74486181 + Translation_Start_Site SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:74486181G>A ENST00000394009.3 + 0 123 CCDC176_ENST00000489323.1_3'UTR NM_025057.2 NP_079333.2 coiled-coil domain containing 176 GGGAAGCCAAGATGCCGTCGA 0.632000 3 13 0 0 1 0 0 ATP7B 540 broad.mit.edu 37 13 52549114 52549114 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr13:52549114G>A ENST00000242839.4 - 2 398 c.242C>T c.(241-243)tCc>tTc p.S81F ATP7B_ENST00000542656.1_Missense_Mutation_p.S49F|ATP7B_ENST00000344297.5_Missense_Mutation_p.S81F|ATP7B_ENST00000448424.2_Missense_Mutation_p.S81F|ATP7B_ENST00000400370.3_Missense_Mutation_p.S81F|ATP7B_ENST00000400366.3_Missense_Mutation_p.S81F|ATP7B_ENST00000418097.2_Missense_Mutation_p.S81F NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 81 HMA 1. ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) TTTCAAATTGGAAATCCTGTC 0.517000 Wilson disease 38 28 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 43985984 43985984 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:43985984G>A ENST00000262726.7 - 24 3255 c.3002C>T c.(3001-3003)aCc>aTc p.T1001I EFCAB6_ENST00000396231.2_Missense_Mutation_p.T849I NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 1001 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) CTCCCCTTCGGTAAGAGAACA 0.413000 39 62 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121358779 121358779 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:121358779C>T ENST00000260197.7 + 4 696 c.567C>T c.(565-567)atC>atT p.I189I SORL1_ENST00000532451.1_3'UTR NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 189 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) ACCTCTGGATCACGTTTGACT 0.517000 90 229 0 0 1 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105924669 105924669 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:105924669C>T ENST00000393359.2 - 2 516 c.90G>A c.(88-90)gtG>gtA p.V30V TGFBRAP1_ENST00000258449.1_Silent_p.V30V Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 30 CNH. regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 CGCAGCACTCCACGCACTCTA 0.592000 21 12 0 0 1 0 0 SLC25A45 283130 broad.mit.edu 37 11 65144474 65144474 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:65144474C>T ENST00000417511.2 - 9 1421 c.287G>A c.(286-288)gGg>gAg p.G96E SLC25A45_ENST00000294187.6_Missense_Mutation_p.G96E|SLC25A45_ENST00000527174.1_Missense_Mutation_p.G138E|SLC25A45_ENST00000398802.1_Missense_Mutation_p.G138E|SLC25A45_ENST00000360662.3_Missense_Mutation_p.G114E|SLC25A45_ENST00000526432.1_Missense_Mutation_p.G76E|SLC25A45_ENST00000534028.1_Missense_Mutation_p.G114E|SLC25A45_ENST00000377152.2_Missense_Mutation_p.G34E NM_001278251.1 NP_001265180.1 Q8N413 S2545_HUMAN solute carrier family 25, member 45 138 transmembrane transport integral to membrane|mitochondrial inner membrane binding endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 14 TGGGGGGCTCCCTGGCTGGGC 0.657000 26 19 0 0 1 0 0 RASAL3 64926 broad.mit.edu 37 19 15564052 15564052 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:15564052G>A ENST00000343625.6 - 15 2616 c.2536C>T c.(2536-2538)Cca>Tca p.P846S NM_022904.1 NP_075055.1 Q86YV0 RASL3_HUMAN RAS protein activator like 3 846 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1) 18 CGGGGCGCTGGTCCCATGCTC 0.736000 3 6 0 0 1 0 0 SNX30 401548 broad.mit.edu 37 9 115626678 115626678 + Splice_Site SNP A A C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:115626678A>C ENST00000374232.3 + 8 1417 c.1254_splice c.e8+1 p.K418_splice SNX30_ENST00000604751.1_3'UTR NM_001012994.1 NP_001013012.1 Q5VWJ9 SNX30_HUMAN sorting nexin family member 30 418 cell communication|protein transport cytoplasm phosphatidylinositol binding large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 TATTATGAGAAGGTAATGAGT 0.502000 5 28 0 0 1 0 0 H1FX 8971 broad.mit.edu 37 3 129034463 129034463 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:129034463C>T ENST00000333762.4 - 1 657 c.283G>A c.(283-285)Gcg>Acg p.A95T H1FX-AS1_ENST00000511998.1_RNA|H1FX-AS1_ENST00000433902.2_RNA NM_006026.3 NP_006017.1 Q92522 H1X_HUMAN H1 histone family, member X 95 H15. nucleosome assembly nucleosome|nucleus DNA binding kidney(1)|ovary(1)|urinary_tract(2) 4 TGCACCAGCGCCTTGATCGAG 0.632000 3 1 0 0 1 0 0 EDN3 1908 broad.mit.edu 37 20 57896098 57896098 + Missense_Mutation SNP A A G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:57896098A>G ENST00000311585.7 + 3 762 c.392A>G c.(391-393)aAc>aGc p.N131S EDN3_ENST00000337938.2_Missense_Mutation_p.N131S|EDN3_ENST00000371025.3_Missense_Mutation_p.N131S|EDN3_ENST00000395654.3_Missense_Mutation_p.N131S|EDN3_ENST00000371028.2_Missense_Mutation_p.N131S NM_207032.1 NP_996915.1 P14138 EDN3_HUMAN endothelin 3 131 cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space|soluble fraction endothelin B receptor binding|hormone activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 19 all_lung(29;0.0115) GGACTGTCCAACTACAGAGGA 0.617000 26 67 0 0 1 0 0 NIN 51199 broad.mit.edu 37 14 51239808 51239808 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:51239808G>A ENST00000245441.5 - 8 862 c.672C>T c.(670-672)ctC>ctT p.L224L NIN_ENST00000382043.4_Silent_p.L224L|NIN_ENST00000530997.2_Silent_p.L224L|NIN_ENST00000453196.1_Silent_p.L224L|NIN_ENST00000382041.3_Silent_p.L224L|NIN_ENST00000324330.9_Silent_p.L224L|NIN_ENST00000389868.3_Silent_p.L224L NM_020921.3 NP_065972.3 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 224 EF-hand 4. centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) ATACTTCCTCGAGCATCTAGA 0.363000 T PDGFRB MPD 25 18 0 0 1 0 0 PKP1 5317 broad.mit.edu 37 1 201293662 201293662 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:201293662C>T ENST00000263946.3 + 11 2101 c.1850C>T c.(1849-1851)tCc>tTc p.S617F PKP1_ENST00000352845.3_Missense_Mutation_p.S617F|PKP1_ENST00000367324.3_Missense_Mutation_p.S596F NM_000299.3 NP_000290.2 Q13835 PKP1_HUMAN plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) 617 cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development desmosome|intermediate filament|nucleus intermediate filament binding|signal transducer activity|structural constituent of epidermis NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1) 22 TCCGGAGCCTCCCTCCTGAGC 0.592000 7 55 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89421765 89421765 + RNA SNP G G T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:89421765G>T ENST00000532352.1 + 0 1435 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 AAGCAAATTGGGATCTGGAAA 0.333000 33 31 4.0492e-12 4.09953e-12 1 1 0 FOXN1 8456 broad.mit.edu 37 17 26864394 26864394 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:26864394G>A ENST00000226247.2 + 8 1916 c.1887G>A c.(1885-1887)acG>acA p.T629T FOXN1_ENST00000579795.1_Silent_p.T629T NM_003593.2 NP_003584.2 O15353 FOXN1_HUMAN forkhead box N1 629 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|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 endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(42;0.00431) CGCCCCCCACGGCCCCTGCAG 0.677000 42 4 0 0 1 0 0 ACSS1 84532 broad.mit.edu 37 20 25000665 25000665 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:25000665G>A ENST00000537502.1 - 5 2509 c.978C>T c.(976-978)tcC>tcT p.S326S ACSS1_ENST00000542618.1_Silent_p.S288S|ACSS1_ENST00000432802.2_Silent_p.S409S|ACSS1_ENST00000323482.4_Silent_p.S409S Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 409 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GGGTCCGCAGGGAGGAGCGAT 0.582000 37 120 0 0 1 0 0 MYF6 4618 broad.mit.edu 37 12 81101782 81101782 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:81101782G>A ENST00000228641.3 + 1 506 c.284G>A c.(283-285)cGa>cAa p.R95Q NM_002469.2 NP_002460.1 P23409 MYF6_HUMAN myogenic factor 6 (herculin) 95 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1) 26 ACTGACCGGCGAAAAGCCGCC 0.632000 20 42 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43430821 43430821 + RNA SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:43430821C>T ENST00000446844.3 - 0 846 PSG7_ENST00000406070.2_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) TCCTTATTCTCCCTGGGGTTT 0.488000 96 104 0 0 1 0 0 OC90 729330 broad.mit.edu 37 8 133047030 133047030 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:133047030G>A ENST00000262283.5 - 14 1466 c.1367C>T c.(1366-1368)cCa>cTa p.P456L OC90_ENST00000603859.1_Missense_Mutation_p.P244L|OC90_ENST00000443356.2_Missense_Mutation_p.P260L|OC90_ENST00000254627.3_Missense_Mutation_p.P244L Q02509 OC90_HUMAN otoconin 90 260 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) AGGCTTACCTGGAGGGGACGT 0.512000 26 74 0 0 1 0 0 RSC1A1 6248 broad.mit.edu 37 1 15987492 15987492 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:15987492G>A ENST00000345034.1 + 1 1129 c.1129G>A c.(1129-1131)Gaa>Aaa p.E377K DDI2_ENST00000480945.1_3'UTR NM_006511.1 NP_006502.1 Q92681 RSCA1_HUMAN regulatory solute carrier protein, family 1, member 1 377 negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport cell junction|Golgi apparatus|nucleus ion channel inhibitor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1) 11 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TACATCTGAAGAAGTAATCTG 0.408000 10 75 0 0 1 0 0 RASGRF2 5924 broad.mit.edu 37 5 80476026 80476026 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:80476026G>A ENST00000265080.4 + 18 2786 c.2719G>A c.(2719-2721)Gag>Aag p.E907K NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 907 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) ATGTGATAAAGAGTTTATTAT 0.453000 78 27 0 0 1 0 0 MAP3K15 389840 broad.mit.edu 37 X 19428062 19428062 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:19428062G>A ENST00000338883.4 - 12 1727 c.1728C>T c.(1726-1728)gcC>gcT p.A576A MAP3K15_ENST00000359173.3_Silent_p.A11A|MAP3K15_ENST00000469203.2_Silent_p.A408A|MAP3K15_ENST00000518578.1_5'UTR NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 576 ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) TTATGGAAGAGGCTGTAAAAT 0.299000 13 6 0 0 1 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58549279 58549279 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:58549279C>T ENST00000282326.1 + 3 322 c.75C>T c.(73-75)gaC>gaT p.D25D ZSCAN1_ENST00000601162.1_Silent_p.D25D|ZSCAN1_ENST00000391700.1_Silent_p.D25D NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 25 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) AGGACGCAGACCCTGGGCCAG 0.701000 4 7 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109813606 109813606 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:109813606C>T ENST00000271332.3 + 25 7602 c.7541C>T c.(7540-7542)tCc>tTc p.S2514F CELSR2_ENST00000498157.1_3'UTR NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 2514 dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) TGCTGGCTCTCCATCTATGAC 0.627000 52 287 0 0 1 0 0 ZKSCAN2 342357 broad.mit.edu 37 16 25251568 25251568 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:25251568G>A ENST00000328086.7 - 7 3276 c.2473C>T c.(2473-2475)Cac>Tac p.H825Y NM_001012981.4 NP_001012999.3 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 825 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 36 GBM - Glioblastoma multiforme(48;0.0378) TCTCCTGTGTGGATTCTCTGG 0.443000 29 51 0 0 1 0 0 ATP10D 57205 broad.mit.edu 37 4 47589126 47589126 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:47589126C>T ENST00000273859.3 + 22 4113 c.3844C>T c.(3844-3846)Cca>Tca p.P1282S NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 1282 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 AACTTGCAACCCACCATCCAA 0.433000 40 42 0 0 1 0 0 LILRA1 11024 broad.mit.edu 37 19 55107724 55107724 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:55107724C>T ENST00000251372.3 + 7 1211 c.1029C>T c.(1027-1029)acC>acT p.T343T LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000448689.1_Intron NM_006863.1 NP_006854.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 343 Ig-like C2-type 4. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) AGAACGTGACCCTGCTGTGTC 0.592000 21 29 0 0 1 0 0 TRIM68 55128 broad.mit.edu 37 11 4622013 4622013 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:4622013G>A ENST00000300747.5 - 7 1240 c.951C>T c.(949-951)atC>atT p.I317I NM_018073.6 NP_060543.5 Q6AZZ1 TRI68_HUMAN tripartite motif containing 68 317 B30.2/SPRY. protein autoubiquitination|regulation of androgen receptor signaling pathway Golgi apparatus|nucleolus|perinuclear region of cytoplasm androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) CCTCAGACACGATGAGACGGG 0.498000 3 15 0 0 1 0 0 ITPA 3704 broad.mit.edu 37 20 3202490 3202490 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:3202490C>T ENST00000380113.3 + 7 607 c.415C>T c.(415-417)Cgg>Tgg p.R139W ITPA_ENST00000455664.1_Missense_Mutation_p.R122W|ITPA_ENST00000483354.1_3'UTR|ITPA_ENST00000399838.3_Missense_Mutation_p.R98W NM_033453.3 NP_258412.1 Q9BY32 ITPA_HUMAN inosine triphosphatase (nucleoside triphosphate pyrophosphatase) 139 nucleotide metabolic process cytoplasm metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1) 6 GTGGCAGGGCCGGATCGTGGC 0.582000 30 32 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179411112 179411112 + Nonsense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:179411112C>T ENST00000589042.1 - 342 95170 c.94946G>A c.(94945-94947)tGg>tAg p.W31649* TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W22584*|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W22776*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W22709*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W30008*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W29081* NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 30008 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCCTTTGGTCCAGATAATTTT 0.468000 7 58 0 0 1 0 0 RNASEL 6041 broad.mit.edu 37 1 182555559 182555559 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:182555559G>A ENST00000367559.3 - 2 636 c.383C>T c.(382-384)gCc>gTc p.A128V RNASEL_ENST00000444138.1_Missense_Mutation_p.A128V|RNASEL_ENST00000539397.1_Missense_Mutation_p.A128V NM_021133.3 NP_066956.1 Q05823 RN5A_HUMAN ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 128 mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1) 27 TTCCATGAAGGCTGTGAAGCC 0.443000 43 23 0 0 1 0 0 LOC440700 440700 broad.mit.edu 37 1 165677878 165677878 + RNA SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:165677878G>A ENST00000400982.2 + 0 474 NR_036683.1 GATCCCCAGGGGGCTCAGAAC 0.522000 3 25 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63174481 63174481 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:63174481C>T ENST00000322893.7 - 11 2980 c.2712G>A c.(2710-2712)caG>caA p.Q904Q KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 904 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TCTGTAAGGCCTGCTCGGGGA 0.552000 38 97 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181686321 181686321 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:181686321C>T ENST00000526775.1 + 11 1573 c.1408C>T c.(1408-1410)Cgc>Tgc p.R470C CACNA1E_ENST00000358338.5_Missense_Mutation_p.R421C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R77C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R421C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R470C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R470C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R470C NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 470 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CATCTCCATTCGCCACATGGT 0.532000 84 30 0 0 1 0 0 LIPF 8513 broad.mit.edu 37 10 90427098 90427098 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:90427098G>A ENST00000394375.3 + 3 187 c.74G>A c.(73-75)gGg>gAg p.G25E LIPF_ENST00000355843.2_Missense_Mutation_p.G15E|LIPF_ENST00000238983.4_Missense_Mutation_p.G15E NM_001198829.1 NP_001185758.1 P07098 LIPG_HUMAN lipase, gastric 15 lipid catabolic process|triglyceride metabolic process extracellular region lipid binding|triglyceride lipase activity NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6) 13 Colorectal(252;0.0161) Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05) TCTGTACTGGGGACTACACAT 0.378000 34 7 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 161007487 161007487 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:161007487C>T ENST00000447678.1 - 26 4243 c.4123G>A c.(4123-4125)Gaa>Aaa p.E1375K LPA_ENST00000316300.5_Missense_Mutation_p.E1375K NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3883 Kringle 12. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TTACCTTCTTCAGAAGGAAGC 0.478000 13 38 0 0 1 0 0 HIF3A 64344 broad.mit.edu 37 19 46808528 46808528 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:46808528G>A ENST00000339613.2 + 3 331 c.76G>A c.(76-78)Gga>Aga p.G26R HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000420102.2_Intron|HIF3A_ENST00000244303.6_Intron|HIF3A_ENST00000377670.4_Missense_Mutation_p.G82R|HIF3A_ENST00000600383.1_Intron|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000300862.3_Missense_Mutation_p.G80R Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 82 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) GGGAGCAGGGGGAGAACCACT 0.607000 24 42 0 0 1 0 0 PTPRE 5791 broad.mit.edu 37 10 129871681 129871681 + Nonsense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:129871681G>A ENST00000254667.3 + 17 1824 c.1545G>A c.(1543-1545)tgG>tgA p.W515* PTPRE_ENST00000419012.2_Nonsense_Mutation_p.W515*|PTPRE_ENST00000306042.5_Nonsense_Mutation_p.W457* NM_006504.4 NP_006495.1 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 515 Tyrosine-protein phosphatase 2. negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) GGATGATCTGGGAATGGAAAT 0.602000 24 8 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24783481 24783481 + Nonsense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:24783481C>T ENST00000376454.3 + 7 1762 c.1732C>T c.(1732-1734)Cag>Tag p.Q578* KIAA1217_ENST00000376451.2_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376462.1_Nonsense_Mutation_p.Q498*|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000430453.2_Intron NM_019590.3 NP_062536.2 Q5T5P2 SKT_HUMAN KIAA1217 578 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 TGGCCTTGTTCAGTCTGCGCT 0.368000 29 9 0 0 1 0 0 STPG2 285555 broad.mit.edu 37 4 98865055 98865055 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:98865055G>A ENST00000295268.3 - 8 1126 c.1037C>T c.(1036-1038)cCa>cTa p.P346L NM_174952.2 NP_777612.1 sperm-tail PG-rich repeat containing 2 TACCATATCTGGTACTTTCAT 0.353000 22 28 0 0 1 0 0 RB1 5925 broad.mit.edu 37 13 48955569 48955569 + Missense_Mutation SNP C C A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr13:48955569C>A ENST00000267163.4 + 17 1823 c.1685C>A c.(1684-1686)gCa>gAa p.A562E NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 562 Domain A.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(8) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GAATCCCTTGCATGGCTCTCA 0.343000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 6 9 0.000157383 0.000158089 1 1 0 SSPO 23145 broad.mit.edu 37 7 149519047 149519047 + RNA SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:149519047C>T ENST00000378016.2 + 0 12851 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) AGGGCCGCAGCCCCTCACCAC 0.706000 4 7 0 0 1 0 0 HNF4G 3174 broad.mit.edu 37 8 76456045 76456045 + Splice_Site SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:76456045G>A ENST00000396423.2 + 2 212 c.e2-1 HNF4G_ENST00000354370.1_Splice_Site NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) TTTATTGACAGATAGTTCTGC 0.403000 20 27 0 0 1 0 0 SRRD 402055 broad.mit.edu 37 22 26881996 26881996 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:26881996C>T ENST00000215917.6 + 2 231 c.217C>T c.(217-219)Ctg>Ttg p.L73L NM_001013694.2 NP_001013716.2 Q9UH36 SRR1L_HUMAN SRR1 domain containing 73 rhythmic process endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 4 CAGGAAGGACCTGTTTATCTC 0.473000 25 37 0 0 1 0 0 CDC14B 8555 broad.mit.edu 37 9 99314084 99314084 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:99314084G>A ENST00000375241.1 - 5 942 c.491C>T c.(490-492)cCt>cTt p.P164L CDC14B_ENST00000375242.3_Missense_Mutation_p.P127L|CDC14B_ENST00000375240.3_Missense_Mutation_p.P164L|CDC14B_ENST00000375236.1_Missense_Mutation_p.P164L|CDC14B_ENST00000265659.2_Missense_Mutation_p.P164L|CDC14B_ENST00000463569.1_Missense_Mutation_p.P164L NM_003671.3|NM_033331.2 NP_003662.1|NP_201588.1 O60729 CC14B_HUMAN cell division cycle 14B 164 A. activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint nucleolus|nucleoplasm protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1) 15 Acute lymphoblastic leukemia(62;0.0559) TTACCTGAAAGGAATATAGGA 0.318000 27 21 0 0 1 0 0 FIBIN 387758 broad.mit.edu 37 11 27016612 27016612 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:27016612C>T ENST00000318627.2 + 1 985 c.539C>T c.(538-540)tCt>tTt p.S180F NM_203371.1 NP_976249.1 Q8TAL6 FIBIN_HUMAN fin bud initiation factor homolog (zebrafish) 180 extracellular region|Golgi apparatus breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1) 11 CTGGACATCTCTGTGGGGCTC 0.557000 20 47 0 0 1 0 0 OR13C4 138804 broad.mit.edu 37 9 107289169 107289169 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:107289169C>T ENST00000277216.3 - 1 321 c.322G>A c.(322-324)Ggg>Agg p.G108R NM_001001919.1 NP_001001919.1 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, member 4 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(2)|lung(14)|skin(1) 18 TCTGTTGACCCCATTGCAAAC 0.448000 51 47 0 0 1 0 0 MAP3K13 9175 broad.mit.edu 37 3 185146557 185146557 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:185146557C>T ENST00000265026.3 + 2 522 c.188C>T c.(187-189)cCc>cTc p.P63L MAP3K13_ENST00000535426.1_Intron|MAP3K13_ENST00000424227.1_Missense_Mutation_p.P63L|MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000443863.1_Intron NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 63 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GTGCACAGCCCCGTCACCACA 0.552000 6 16 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121736128 121736128 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:121736128G>A ENST00000452319.1 + 10 1547 c.1487G>A c.(1486-1488)cGa>cAa p.R496Q GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Missense_Mutation_p.R168Q|GLI2_ENST00000361492.4_Missense_Mutation_p.R496Q P10070 GLI2_HUMAN GLI family zinc finger 2 496 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) CACATGCGGCGACACACGGGC 0.652000 22 65 0 0 1 0 0 UBE2J2 118424 broad.mit.edu 37 1 1203260 1203260 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:1203260G>A ENST00000349431.6 - 2 332 c.113C>T c.(112-114)cCt>cTt p.P38L UBE2J2_ENST00000400930.4_Missense_Mutation_p.P38L|UBE2J2_ENST00000347370.2_5'UTR|UBE2J2_ENST00000348298.7_5'UTR|UBE2J2_ENST00000491779.1_Intron|UBE2J2_ENST00000360466.2_Missense_Mutation_p.P38L|UBE2J2_ENST00000400929.2_Intron NM_058167.2 NP_477515.2 Q8N2K1 UB2J2_HUMAN ubiquitin-conjugating enzyme E2, J2 38 response to unfolded protein endoplasmic reticulum membrane|integral to membrane ATP binding|ubiquitin-protein ligase activity p.P38H(1) cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205) AATATTCGAAGGGAGGGGCTC 0.632000 65 332 0 0 1 0 0 NEUROD1 4760 broad.mit.edu 37 2 182543374 182543374 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:182543374C>T ENST00000295108.3 - 2 671 c.214G>A c.(214-216)Gag>Aag p.E72K CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron NM_002500.4 NP_002491.2 Q13562 NDF1_HUMAN neuronal differentiation 1 72 Glu-rich (acidic).|Poly-Glu. amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) tcctcttcctcttcttcctcc 0.532000 8 26 0 0 1 0 0 LRRC4B 94030 broad.mit.edu 37 19 51021653 51021653 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:51021653C>T ENST00000599957.1 - 3 1514 c.1317G>A c.(1315-1317)acG>acA p.T439T LRRC4B_ENST00000389201.3_Silent_p.T439T Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B 439 Ig-like C2-type. cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) CGGCTGAGTTCGTCACCATGC 0.706000 30 24 0 0 1 0 0 C14orf166B 145497 broad.mit.edu 37 14 77304240 77304240 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:77304240G>A ENST00000393774.3 + 5 645 c.521G>A c.(520-522)gGt>gAt p.G174D C14orf166B_ENST00000450042.2_Missense_Mutation_p.G157D|C14orf166B_ENST00000460005.1_3'UTR NM_194287.2 NP_919263.2 Q0VAA2 CN16B_HUMAN chromosome 14 open reading frame 166B 174 breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1) 18 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0306) AATCACCTTGGTTTGGAGGGG 0.423000 5 5 0 0 1 0 0 MRPL21 219927 broad.mit.edu 37 11 68658813 68658813 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:68658813G>A ENST00000362034.2 - 7 613 c.604C>T c.(604-606)Ccg>Tcg p.P202S MRPL21_ENST00000450904.2_Missense_Mutation_p.P117S NM_181514.1|NM_181515.1 NP_852615.1|NP_852616.1 Q7Z2W9 RM21_HUMAN mitochondrial ribosomal protein L21 202 translation mitochondrion|ribosome RNA binding|structural constituent of ribosome large_intestine(1)|lung(6)|prostate(1) 8 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) AACAAACACGGAGCAATCTCA 0.458000 60 51 0 0 1 0 0 SDC1 6382 broad.mit.edu 37 2 20404018 20404018 + Silent SNP G G A rs143685077 TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:20404018G>A ENST00000381150.1 - 4 573 c.183C>T c.(181-183)acC>acT p.T61T SDC1_ENST00000403076.1_Silent_p.T61T|SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000254351.4_Silent_p.T61T NM_001006946.1 NP_001006947.1 P18827 SDC1_HUMAN syndecan 1 61 lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development cytoplasm|extracellular region|focal adhesion|integral to plasma membrane cytoskeletal protein binding|protein C-terminus binding NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2) 21 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) OV - Ovarian serous cystadenocarcinoma(76;0.221) AAGTGGAGGGGGTCTGCTGTG 0.617000 25 154 0 0 1 0 0 PZP 5858 broad.mit.edu 37 12 9346712 9346712 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:9346712G>A ENST00000261336.2 - 11 1243 c.1215C>T c.(1213-1215)atC>atT p.I405I PZP_ENST00000381997.2_Silent_p.I274I 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 TGGTAGTATTGATTGAAAACT 0.393000 22 37 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178579179 178579179 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:178579179C>T ENST00000251582.7 - 10 1694 c.1593G>A c.(1591-1593)ggG>ggA p.G531G ADAMTS2_ENST00000274609.5_Silent_p.G531G NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 531 Disintegrin. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CCAAGGGGGGCCCCTTCTTGG 0.592000 11 8 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82585078 82585078 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:82585078G>A ENST00000423517.2 - 5 5528 c.5191C>T c.(5191-5193)Cct>Tct p.P1731S PCLO_ENST00000333891.8_Missense_Mutation_p.P1731S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1662 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.P1731T(2)|p.P1662T(1) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ACTGATGTAGGGGATGTACCA 0.498000 46 54 0 0 1 0 0 KMT2E 55904 broad.mit.edu 37 7 104748150 104748150 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:104748150C>T ENST00000334877.4 + 22 3780 c.3246C>T c.(3244-3246)tcC>tcT p.S1082S KMT2E_ENST00000334914.7_Silent_p.S137S|KMT2E_ENST00000311117.3_Silent_p.S1082S|KMT2E_ENST00000257745.4_Silent_p.S1082S lysine (K)-specific methyltransferase 2E CAGTGAACTCCAACTTGAGGG 0.512000 12 11 0 0 1 0 0 ENPP2 5168 broad.mit.edu 37 8 120629431 120629431 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:120629431G>A ENST00000427067.2 - 7 798 c.618C>T c.(616-618)acC>acT p.T206T ENPP2_ENST00000259486.6_Silent_p.T210T|ENPP2_ENST00000522826.1_Silent_p.T210T|ENPP2_ENST00000075322.6_Silent_p.T210T Q13822 ENPP2_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 2 210 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) AGTTAGGAAAGGTTTTAGTTG 0.403000 14 19 0 0 1 0 0 IL4R 3566 broad.mit.edu 37 16 27353522 27353522 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:27353522C>T ENST00000395762.2 + 4 410 c.151C>T c.(151-153)Ccc>Tcc p.P51S IL4R_ENST00000380922.3_Missense_Mutation_p.P36S|IL4R_ENST00000170630.2_Missense_Mutation_p.P51S|IL4R_ENST00000449195.1_Missense_Mutation_p.P51S|IL4R_ENST00000543915.2_Missense_Mutation_p.P51S NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 51 immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 GATGAATGGTCCCACCAATTG 0.577000 34 57 0 0 1 0 0 ODAM 54959 broad.mit.edu 37 4 71063662 71063662 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:71063662C>T ENST00000396094.2 + 4 211 c.163C>T c.(163-165)Cca>Tca p.P55S NM_017855.3 NP_060325.3 A1E959 ODAM_HUMAN odontogenic, ameloblast asssociated 55 biomineral tissue development|odontogenesis of dentine-containing tooth fibril NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2) 20 TTCATGGATTCCACCTTTCTC 0.428000 64 54 0 0 1 0 0 SEPT14 346288 broad.mit.edu 37 7 55912352 55912352 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:55912352C>T ENST00000388975.3 - 4 351 c.235G>A c.(235-237)Gat>Aat p.D79N SEPT14_ENST00000477628.1_5'UTR NM_207366.2 NP_997249.2 Q6ZU15 SEP14_HUMAN septin 14 79 cell cycle|cell division septin complex GTP binding|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2) 23 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GATTTGTTATCTTTCAAGTTA 0.358000 30 20 0 0 1 0 0 ZNF384 171017 broad.mit.edu 37 12 6787563 6787563 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:6787563G>A ENST00000396795.1 - 5 913 c.416C>T c.(415-417)aCc>aTc p.T139I ZNF384_ENST00000396799.2_Missense_Mutation_p.T139I|ZNF384_ENST00000319770.3_Missense_Mutation_p.T123I|ZNF384_ENST00000396801.3_Missense_Mutation_p.T139I|ZNF384_ENST00000361959.3_Missense_Mutation_p.T139I|ZNF384_ENST00000355772.4_Intron Q8TF68 ZN384_HUMAN zinc finger protein 384 139 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/ZNF384(4) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1) 18 AATGGGGAAGGTCTGAGCTGA 0.547000 T """EWSR1, TAF15 """ ALL 7 10 0 0 1 0 0 POLDIP3 84271 broad.mit.edu 37 22 42997984 42997984 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:42997984C>T ENST00000252115.5 - 3 633 c.529G>A c.(529-531)Gcc>Acc p.A177T POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000451060.2_Missense_Mutation_p.A21T|POLDIP3_ENST00000348657.2_Intron NM_032311.3 NP_115687.2 Q9BY77 PDIP3_HUMAN polymerase (DNA-directed), delta interacting protein 3 177 positive regulation of translation cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1) 16 ACCTGTTTGGCCTGGTGGTTA 0.493000 39 48 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058309 11058309 + RNA SNP A A T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr21:11058309A>T ENST00000470054.1 - 0 338 B melanoma antigen family, member 2 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) CAAAGTGCTTACAAAATGCAC 0.393000 10 200 0 0 1 0 0 TRAV20 28663 broad.mit.edu 37 14 22509297 22509297 + RNA SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:22509297G>A ENST00000390448.3 + 0 304 GGAAGAAAAGGAGAAAGAAAG 0.468000 17 5 0 0 1 0 0 ROBO3 64221 broad.mit.edu 37 11 124747939 124747939 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:124747939C>T ENST00000397801.1 + 21 3285 c.3093C>T c.(3091-3093)acC>acT p.T1031T ROBO3_ENST00000538940.1_Silent_p.T1009T|ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_5'UTR NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 1031 axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) AGCTGCAGACCTTCCATGGGG 0.632000 11 9 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 151095855 151095855 + Missense_Mutation SNP A A G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:151095855A>G ENST00000474524.1 + 29 4305 c.4267A>G c.(4267-4269)Act>Gct p.T1423A P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.T1283A NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1423 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CAGGTTGCCAACTTCTGTGCA 0.527000 19 35 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32711037 32711037 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr13:32711037C>T ENST00000380250.3 + 11 1603 c.1107C>T c.(1105-1107)ctC>ctT p.L369L NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 369 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CCTGTTTGCTCTGTGTCAGTC 0.443000 27 28 0 0 1 0 0 HSD3B1 3283 broad.mit.edu 37 1 120056908 120056908 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:120056908C>T ENST00000235547.6 + 4 907 c.768C>T c.(766-768)taC>taT p.Y256Y HSD3B1_ENST00000528909.1_Silent_p.Y254Y|HSD3B1_ENST00000369413.3_Silent_p.Y254Y NM_000862.2 NP_000853.1 P14060 3BHS1_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 254 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1) 32 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) GACAGTTCTACTATATCTCAG 0.522000 88 29 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38840454 38840454 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:38840454C>T ENST00000359357.3 + 48 6736 c.6482C>T c.(6481-6483)gCc>gTc p.A2161V DNAH8_ENST00000449981.2_Missense_Mutation_p.A2378V|DNAH8_ENST00000441566.1_Missense_Mutation_p.A2125V dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AATCCAAAAGCCATTACTGCA 0.443000 38 17 0 0 1 0 0 C16orf59 80178 broad.mit.edu 37 16 2514159 2514159 + Nonsense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:2514159C>T ENST00000569496.1 + 9 1143 c.1084C>T c.(1084-1086)Cag>Tag p.Q362* C16orf59_ENST00000361837.4_Nonsense_Mutation_p.Q362*|C16orf59_ENST00000563531.1_Nonsense_Mutation_p.Q362*|C16orf59_ENST00000483320.1_Nonsense_Mutation_p.Q195* Q7L2K0 CP059_HUMAN chromosome 16 open reading frame 59 362 lung(1)|skin(1)|urinary_tract(1) 3 Ovarian(90;0.17) CTCCAGCACCCAGGAGCTGCA 0.652000 16 16 0 0 1 0 0 GPR37L1 9283 broad.mit.edu 37 1 202092431 202092431 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:202092431C>T ENST00000367282.4 + 1 446 c.340C>T c.(340-342)Cta>Tta p.L114L NM_004767.3 NP_004758.3 O60883 ETBR2_HUMAN G protein-coupled receptor 37 like 1 114 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 18 AGGGCAGAGGCTACAGATCCA 0.627000 10 68 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1265070 1265070 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:1265070C>T ENST00000348261.5 + 28 5276 c.5028C>T c.(5026-5028)ttC>ttT p.F1676F CACNA1H_ENST00000565831.1_Silent_p.F1670F|CACNA1H_ENST00000358590.4_Silent_p.F1670F NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 1676 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) TCCGTCGGTTCTTCAAGGACA 0.617000 10 10 0 0 1 0 0 RIC8B 55188 broad.mit.edu 37 12 107237704 107237704 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:107237704C>T ENST00000392837.4 + 6 1291 c.1140C>T c.(1138-1140)atC>atT p.I380I RIC8B_ENST00000355478.2_Silent_p.I340I|RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000392839.2_Silent_p.I380I Q9NVN3 RIC8B_HUMAN RIC8 guanine nucleotide exchange factor B 380 regulation of G-protein coupled receptor protein signaling pathway cell cortex|cytosol|plasma membrane G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1) 19 ATCGAAACATCCGAAAATTTC 0.333000 13 18 0 0 1 0 0 ADAM28 10863 broad.mit.edu 37 8 24188700 24188700 + Missense_Mutation SNP C C G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:24188700C>G ENST00000265769.4 + 12 1251 c.1141C>G c.(1141-1143)Ctc>Gtc p.L381V ADAM28_ENST00000540823.1_Missense_Mutation_p.L148V|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.L381V|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000397649.3_Missense_Mutation_p.L128V NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 381 Peptidase M12B. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) CTGCAGCCGTCTCAGCTATGA 0.383000 51 73 0 0 1 0 0 LRRC41 10489 broad.mit.edu 37 1 46763234 46763234 + Splice_Site SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:46763234C>T ENST00000343304.6 - 3 643 c.e3+1 LRRC41_ENST00000472710.1_Splice_Site NM_006369.4 NP_006360.3 Q15345 LRC41_HUMAN leucine rich repeat containing 41 breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) CCTTAACTTACTTCCAAACTG 0.468000 14 65 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197189846 197189846 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:197189846C>T ENST00000260983.2 - 6 781 c.599G>A c.(598-600)gGg>gAg p.G200E HECW2_ENST00000409111.1_Intron NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 200 C2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 GAAGAACATCCCTTTCTTTAG 0.502000 18 100 0 0 1 0 0 BTN2A3P 54718 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 4 112 0 0 1 0 0 LGR6 59352 broad.mit.edu 37 1 202287272 202287272 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:202287272C>T ENST00000367278.3 + 18 1930 c.1841C>T c.(1840-1842)tCc>tTc p.S614F LGR6_ENST00000439764.2_Missense_Mutation_p.S475F|LGR6_ENST00000255432.7_Missense_Mutation_p.S562F NM_001017403.1 NP_001017403.1 Q9HBX8 LGR6_HUMAN leucine-rich repeat containing G protein-coupled receptor 6 614 integral to membrane|plasma membrane protein-hormone receptor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 ACTGGCATTTCCTGTGGCCTT 0.637000 10 68 0 0 1 0 0 RNF217-AS1 7955 broad.mit.edu 37 6 125233676 125233676 + RNA SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:125233676G>A ENST00000439075.1 - 0 1069 NR_026876.1 GTAATGCCAAGGGACTTACTG 0.423000 6 9 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73461501 73461501 + Nonsense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:73461501G>A ENST00000377110.2 - 4 712 c.469C>T c.(469-471)Cga>Tga p.R157* TRPM3_ENST00000358082.3_Nonsense_Mutation_p.R4*|TRPM3_ENST00000396285.1_Nonsense_Mutation_p.R4*|TRPM3_ENST00000396292.4_Nonsense_Mutation_p.R4*|TRPM3_ENST00000357533.2_Nonsense_Mutation_p.R159*|TRPM3_ENST00000396280.5_Nonsense_Mutation_p.R4*|TRPM3_ENST00000396283.1_Nonsense_Mutation_p.R4*|TRPM3_ENST00000360823.2_Nonsense_Mutation_p.R4*|TRPM3_ENST00000377101.1_Nonsense_Mutation_p.R4*|TRPM3_ENST00000377106.1_Nonsense_Mutation_p.R4*|TRPM3_ENST00000377111.2_Nonsense_Mutation_p.R157*|TRPM3_ENST00000423814.3_Nonsense_Mutation_p.R159*|TRPM3_ENST00000377097.3_Nonsense_Mutation_p.R4*|TRPM3_ENST00000377105.1_Nonsense_Mutation_p.R4*|TRPM3_ENST00000361823.5_Nonsense_Mutation_p.R4*|TRPM3_ENST00000408909.2_Nonsense_Mutation_p.R4* NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 157 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 AAAGATACTCGCACATACTGG 0.448000 3 28 0 0 1 0 0 PHC1 1911 broad.mit.edu 37 12 9085237 9085237 + Missense_Mutation SNP T T A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:9085237T>A ENST00000433083.2 + 7 1194 c.1049T>A c.(1048-1050)aTc>aAc p.I350N PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000543824.1_Missense_Mutation_p.I395N|PHC1_ENST00000536844.1_Missense_Mutation_p.I174N|PHC1_ENST00000544916.1_Missense_Mutation_p.I395N P78364 PHC1_HUMAN polyhomeotic homolog 1 (Drosophila) 395 multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 27 CAGGTGGTGATCCAGCAGCAG 0.552000 14 49 0 0 1 0 0 ZNF658 26149 broad.mit.edu 37 9 40774474 40774474 + Silent SNP C C A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:40774474C>A ENST00000602553.1 - 5 1095 c.801G>T c.(799-801)ggG>ggT p.G267G ZNF658_ENST00000377626.3_Silent_p.G267G|ZNF658_ENST00000441795.1_Silent_p.G265G Q5TYW1 ZN658_HUMAN zinc finger protein 658 267 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 46 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) CAGAGCATTTCCCCCTTGTGT 0.358000 79 81 5.98988e-27 6.11268e-27 1 1 0 ACAA1 30 broad.mit.edu 37 3 38173449 38173449 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:38173449G>A ENST00000333167.8 - 4 543 c.371C>T c.(370-372)tCg>tTg p.S124L ACAA1_ENST00000444607.2_Missense_Mutation_p.S124L|ACAA1_ENST00000544624.1_5'UTR|ACAA1_ENST00000301810.7_Missense_Mutation_p.S124L|ACAA1_ENST00000480865.1_5'UTR|ACAA1_ENST00000450296.1_Intron NM_001607.3 NP_001598.1 P09110 THIK_HUMAN acetyl-CoA acyltransferase 1 124 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy peroxisomal matrix acetyl-CoA C-acyltransferase activity|protein binding endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657) TAGCCCCGACGAACACTGTCT 0.542000 OREG0015477 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 27 0 0 1 0 0 OCLN 100506658 broad.mit.edu 37 5 68809847 68809847 + Nonsense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:68809847C>T ENST00000355237.2 + 4 1238 c.802C>T c.(802-804)Cga>Tga p.R268* OCLN_ENST00000380766.2_Intron|OCLN_ENST00000538151.1_Nonsense_Mutation_p.R17*|OCLN_ENST00000396442.2_Nonsense_Mutation_p.R268*|OCLN_ENST00000542132.1_Intron NM_002538.3 NP_002529.1 Q16625 OCLN_HUMAN occludin 268 MARVEL. cellular component disassembly involved in apoptosis|protein complex assembly integral to membrane|tight junction protein binding|structural molecule activity endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1) 6 Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) TGTGAAAACTCGAAGAAAGAT 0.398000 24 6 0 0 1 0 0 MADD 8567 broad.mit.edu 37 11 47304502 47304502 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:47304502C>T ENST00000342922.4 + 10 2201 c.1844C>T c.(1843-1845)tCc>tTc p.S615F MADD_ENST00000402192.2_Missense_Mutation_p.S615F|MADD_ENST00000395336.3_Missense_Mutation_p.S615F|MADD_ENST00000406482.1_Missense_Mutation_p.S615F|MADD_ENST00000402799.1_Missense_Mutation_p.S615F|MADD_ENST00000349238.3_Missense_Mutation_p.S615F|MADD_ENST00000407859.3_Missense_Mutation_p.S615F|MADD_ENST00000395344.3_Missense_Mutation_p.S615F|MADD_ENST00000311027.5_Missense_Mutation_p.S615F NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 615 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) GACTCTGACTCCGAACCTACT 0.517000 25 28 0 0 1 0 0 TRGV8 6982 broad.mit.edu 37 7 38370122 38370122 + RNA SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:38370122C>T ENST00000390343.2 - 0 289 TGGGGCCTTCCCCTCCTGGTG 0.483000 29 37 0 0 1 0 0 DGKD 8527 broad.mit.edu 37 2 234343527 234343527 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:234343527C>T ENST00000264057.2 + 5 578 c.566C>T c.(565-567)tCg>tTg p.S189L DGKD_ENST00000409813.3_Missense_Mutation_p.S145L NM_152879.2 NP_690618.2 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa 189 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1) 38 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) GGGGTCACGTCGCACGGGCTG 0.552000 94 35 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94156490 94156490 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:94156490C>T ENST00000553484.1 + 47 7450 c.7296C>T c.(7294-7296)tcC>tcT p.S2432S UNC79_ENST00000393151.2_Silent_p.S2410S|UNC79_ENST00000555664.1_Silent_p.S2371S|UNC79_ENST00000256339.4_Silent_p.S2233S Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2410 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 AGTGTGTCTCCCATATCCGAC 0.453000 44 26 0 0 1 0 0 CASS4 57091 broad.mit.edu 37 20 55027248 55027248 + Missense_Mutation SNP G G A rs149703805 by1000genomes TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:55027248G>A ENST00000371336.3 + 5 1217 c.1016G>A c.(1015-1017)cGa>cAa p.R339Q CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Missense_Mutation_p.R339Q NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 339 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 CTGATTCCCCGAGTGGAACAG 0.473000 33 58 0 0 1 0 0 INPP5D 3635 broad.mit.edu 37 2 234112876 234112876 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:234112876C>T ENST00000359570.5 + 28 3044 c.3044C>T c.(3043-3045)tCc>tTc p.1015_1015insF INPP5D_ENST00000455936.2_Missense_Mutation_p.779_779insF|INPP5D_ENST00000450745.1_Missense_Mutation_p.779_779insF Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 0 Pro-rich. apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) TCCCTGAGTTCCTTCCCTAAG 0.632000 27 29 0 0 1 0 0 PTPRU 10076 broad.mit.edu 37 1 29631876 29631876 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:29631876G>A ENST00000373779.3 + 18 2885 c.2756G>A c.(2755-2757)cGa>cAa p.R919Q PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000356870.3_Missense_Mutation_p.R919Q|PTPRU_ENST00000345512.3_Missense_Mutation_p.R929Q|PTPRU_ENST00000323874.8_Missense_Mutation_p.R919Q|PTPRU_ENST00000460170.2_Missense_Mutation_p.R919Q|PTPRU_ENST00000428026.2_Missense_Mutation_p.R919Q NM_001195001.1|NM_133178.3 NP_001181930.1|NP_573439.2 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 929 Tyrosine-protein phosphatase 1. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) GATCGGCACCGAGTGAAACTG 0.567000 8 129 0 0 1 0 0 SLC16A2 6567 broad.mit.edu 37 X 73749080 73749080 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:73749080C>T ENST00000276033.5 + 5 1591 c.1425C>T c.(1423-1425)tcC>tcT p.S475S SLC16A2_ENST00000587091.1_Silent_p.S401S P36021 MOT8_HUMAN solute carrier family 16, member 2 (thyroid hormone transporter) 401 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 21 Pyruvic acid(DB00119) GCCTGATGTCCATGATGATTC 0.562000 16 2 0 0 1 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16873845 16873845 + Silent SNP A A G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:16873845A>G ENST00000355661.3 - 7 590 c.580T>C c.(580-582)Tta>Cta p.L194L PLEKHA7_ENST00000531066.1_Silent_p.L194L|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Silent_p.L194L Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 194 PH. epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 TAGTAAAATAAGCAGTAATCA 0.428000 8 55 0 0 1 0 0 C14orf37 145407 broad.mit.edu 37 14 58604962 58604962 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:58604962C>T ENST00000267485.7 - 2 1309 c.1115G>A c.(1114-1116)gGg>gAg p.G372E C14orf37_ENST00000334342.5_5'UTR NM_001001872.2 NP_001001872.2 Q86TY3 CN037_HUMAN chromosome 14 open reading frame 37 372 integral to membrane binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1) 33 GTGTGTTTCCCCTTCAGGCAG 0.542000 67 74 0 0 1 0 0 CILP 8483 broad.mit.edu 37 15 65496853 65496853 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr15:65496853G>A ENST00000261883.4 - 6 838 c.672C>T c.(670-672)ttC>ttT p.F224F NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 224 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix p.F224F(1) breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 CATGAAGCATGAAGTCCTGGC 0.597000 48 10 0 0 1 0 0 ZNF358 140467 broad.mit.edu 37 19 7584437 7584437 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:7584437C>T ENST00000597229.1 + 2 479 c.309C>T c.(307-309)ccC>ccT p.P103P ZNF358_ENST00000394341.2_Silent_p.P103P NM_018083.4 NP_060553.4 Q9NW07 ZN358_HUMAN zinc finger protein 358 103 embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2) 8 GCCCCGTACCCCTGATTCTCG 0.622000 35 91 0 0 1 0 0 FAM179A 165186 broad.mit.edu 37 2 29274876 29274876 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:29274876G>A ENST00000379558.4 + 20 3328 c.2977G>A c.(2977-2979)Gga>Aga p.G993R FAM179A_ENST00000403861.2_Missense_Mutation_p.G938R|FAM179A_ENST00000465300.1_3'UTR NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 993 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 AGAGTCCTTGGGAGGCAGCCG 0.582000 12 14 0 0 1 0 0 MICAL3 57553 broad.mit.edu 37 22 18384658 18384658 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:18384658C>T ENST00000441493.2 - 5 1029 c.677G>A c.(676-678)aGg>aAg p.R226K MICAL3_ENST00000414725.2_Missense_Mutation_p.R226K|MICAL3_ENST00000207726.7_Missense_Mutation_p.R226K|MICAL3_ENST00000400561.2_Missense_Mutation_p.R226K|MICAL3_ENST00000585038.1_Missense_Mutation_p.R226K|MICAL3_ENST00000429452.1_Missense_Mutation_p.R226K|MICAL3_ENST00000383094.3_Missense_Mutation_p.R226K|MICAL3_ENST00000444520.1_Missense_Mutation_p.R226K NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 226 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) CAAGGTGTTCCTCCGACCATC 0.547000 17 15 0 0 1 0 0 TLE4 7091 broad.mit.edu 37 9 82323082 82323082 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:82323082G>A ENST00000376520.4 + 13 1910 c.1082G>A c.(1081-1083)cGa>cAa p.R361Q TLE4_ENST00000265284.6_Missense_Mutation_p.R304Q|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Missense_Mutation_p.R361Q|TLE4_ENST00000376544.3_Missense_Mutation_p.R260Q|TLE4_ENST00000376552.2_Missense_Mutation_p.R329Q O60756 BCE1_HUMAN transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) 0 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 CCTACTCCACGAACTGATGCG 0.438000 9 47 0 0 1 0 0 CIRH1A 84916 broad.mit.edu 37 16 69194308 69194308 + Nonsense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:69194308G>A ENST00000563094.1 + 13 1528 c.1494G>A c.(1492-1494)tgG>tgA p.W498* CIRH1A_ENST00000314423.7_Nonsense_Mutation_p.W498*|CIRH1A_ENST00000352319.4_Nonsense_Mutation_p.W383* Q969X6 CIR1A_HUMAN cirrhosis, autosomal recessive 1A (cirhin) 498 nucleolus protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(108;0.125) ATGGGAATTGGCTAGCTGCAT 0.473000 4 151 0 0 1 0 0 C7orf60 154743 broad.mit.edu 37 7 112461939 112461939 + Nonsense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:112461939G>A ENST00000297145.4 - 5 1243 c.1078C>T c.(1078-1080)Cga>Tga p.R360* NM_152556.2 NP_689769.2 Q1RMZ1 CG060_HUMAN chromosome 7 open reading frame 60 360 breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 17 atatctGATCGAACATAGCAG 0.398000 15 16 0 0 1 0 0 SH2B3 10019 broad.mit.edu 37 12 111855964 111855964 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:111855964C>T ENST00000341259.2 + 2 372 c.15C>T c.(13-15)gcC>gcT p.A5A NM_005475.2 NP_005466.1 Q9UQQ2 SH2B3_HUMAN SH2B adaptor protein 3 5 blood coagulation cytosol signal transducer activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 10 ACGGGCCTGCCCTGCAGCCCT 0.721000 17 17 0 0 1 0 0 BICD1 636 broad.mit.edu 37 12 32369310 32369310 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:32369310G>A ENST00000548411.1 + 2 524 c.343G>A c.(343-345)Gag>Aag p.E115K BICD1_ENST00000281474.5_Missense_Mutation_p.E115K NM_001003398.1 NP_001003398.1 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 115 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) GATGCAGAACGAGCTGAAACA 0.512000 10 33 0 0 1 0 0 TBX20 57057 broad.mit.edu 37 7 35244195 35244195 + Splice_Site SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:35244195C>T ENST00000408931.3 - 7 1417 c.e7-1 NM_001077653.2|NM_001166220.1 NP_001071121.1|NP_001159692.1 Q9UMR3 TBX20_HUMAN T-box 20 nucleus DNA binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1) 18 CACACTTTCCCTAGGTTAGAG 0.438000 15 2 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51263126 51263126 + Silent SNP C C T rs139890793 by1000genomes TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:51263126C>T ENST00000266037.9 + 15 1322 c.1299C>T c.(1297-1299)ttC>ttT p.F433F NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 433 DHR-1. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) AGGGGGATTTCGAGAGAGGAG 0.463000 17 47 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45303799 45303799 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:45303799G>A ENST00000303230.4 - 6 1577 c.1520C>T c.(1519-1521)gCc>gTc p.A507V NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 507 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TTTACCCACGGCTCCTTCTCG 0.403000 82 14 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186114688 186114688 + Missense_Mutation SNP A A G rs142044852 TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:186114688A>G ENST00000271588.4 + 92 14649 c.14420A>G c.(14419-14421)aAc>aGc p.N4807S HMCN1_ENST00000367492.2_Missense_Mutation_p.N4807S NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 4807 TSP type-1 5. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CAGAGGTGCAACACTGACATG 0.517000 10 28 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138449967 138449967 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:138449967G>A ENST00000344876.4 - 2 2881 c.2495C>T c.(2494-2496)tCt>tTt p.S832F PCDH18_ENST00000412923.2_Missense_Mutation_p.S831F|PCDH18_ENST00000511115.1_Missense_Mutation_p.S12F|PCDH18_ENST00000510305.1_Missense_Mutation_p.S43F|PCDH18_ENST00000507846.1_Missense_Mutation_p.S611F NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 832 brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) AAGAAGCTGAGAGACCTGCTG 0.413000 14 50 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9067233 9067233 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:9067233C>T ENST00000397910.4 - 3 20416 c.20213G>A c.(20212-20214)cGa>cAa p.R6738Q NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6740 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGGACCTGTTCGAGTGATGAT 0.502000 33 113 0 0 1 0 0 COL19A1 1310 broad.mit.edu 37 6 70890393 70890393 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:70890393C>T ENST00000322773.4 + 44 2855 c.2753C>T c.(2752-2754)cCa>cTa p.P918L COL19A1_ENST00000393344.1_Missense_Mutation_p.P540L NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 918 Triple-helical region 5 (COL5). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 TTCCCTGGACCAGAAGGACCC 0.403000 7 49 0 0 1 0 0 AGO2 27161 broad.mit.edu 37 8 141572694 141572694 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:141572694G>A ENST00000220592.5 - 4 488 c.376C>T c.(376-378)Cgc>Tgc p.R126C AGO2_ENST00000519980.1_Missense_Mutation_p.R126C NM_012154.3 NP_036286.2 argonaute RISC catalytic component 2 TTGAAGATGCGATCCTTGCCT 0.602000 77 76 0 0 1 0 0 FAM221B 392307 broad.mit.edu 37 9 35825674 35825674 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:35825674G>A ENST00000423537.2 - 2 754 c.485C>T c.(484-486)tCc>tTc p.S162F TMEM8B_ENST00000377996.1_Intron NM_001012446.3 NP_001012448.2 A6H8Z2 CI128_HUMAN family with sequence similarity 221, member B 162 endometrium(2)|kidney(1)|lung(4) 7 TTGGACCTGGGATGAAGGGCC 0.522000 OREG0019180 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 75 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189526276 189526276 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:189526276C>T ENST00000264731.3 + 4 629 c.540C>T c.(538-540)tcC>tcT p.S180S TP63_ENST00000382063.4_Intron|TP63_ENST00000449992.1_Intron|TP63_ENST00000392463.2_Silent_p.S86S|TP63_ENST00000456148.1_Silent_p.S86S|TP63_ENST00000418709.2_Silent_p.S180S|TP63_ENST00000440651.2_Silent_p.S180S|TP63_ENST00000392461.3_Silent_p.S86S|TP63_ENST00000320472.5_Silent_p.S180S|TP63_ENST00000392460.3_Silent_p.S180S|TP63_ENST00000437221.1_Silent_p.S86S|TP63_ENST00000354600.5_Silent_p.S86S NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 180 anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) TCGACGTGTCCTTCCAGCAGT 0.637000 HNSCC(45;0.13) 34 27 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58118608 58118608 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:58118608G>A ENST00000357272.4 + 26 4629 c.4464G>A c.(4462-4464)gaG>gaA p.E1488E FLNB_ENST00000295956.4_Silent_p.E1488E|FLNB_ENST00000358537.3_Silent_p.E1488E|FLNB_ENST00000348383.5_Silent_p.E1488E|FLNB_ENST00000429972.2_Silent_p.E1488E|FLNB_ENST00000419752.2_Silent_p.E1319E|FLNB_ENST00000493452.1_Silent_p.E1319E|FLNB_ENST00000490882.1_Silent_p.E1519E O75369 FLNB_HUMAN filamin B, beta 1488 Interaction with FBLP1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CATCTCAGGAGGGACCTTACA 0.502000 13 13 0 0 1 0 0 IGHV2-5 28457 broad.mit.edu 37 14 106494450 106494450 + RNA SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:106494450G>A ENST00000390597.2 - 0 66 AGACCCCTGTGGAGAAAGCAT 0.527000 22 13 0 0 1 0 0 ZNF516 9658 broad.mit.edu 37 18 74074486 74074486 + Silent SNP G G T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr18:74074486G>T ENST00000443185.2 - 8 3776 c.3459C>A c.(3457-3459)acC>acA p.T1153T ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 1153 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) CTGTCTGGACGGTACCTGTGT 0.498000 7 12 0.307466 0.307466 1 1 0 PNPLA1 285848 broad.mit.edu 37 6 36259245 36259245 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:36259245G>A ENST00000394571.2 + 2 354 c.354G>A c.(352-354)ggG>ggA p.G118G PNPLA1_ENST00000312917.5_Silent_p.G23G|PNPLA1_ENST00000388715.3_Silent_p.G23G NM_001145717.1 NP_001139189.2 Q8N8W4 PLPL1_HUMAN patatin-like phospholipase domain containing 1 118 Patatin. lipid catabolic process hydrolase activity breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 22 TCACCACGGGGAAGCTCCATG 0.597000 7 29 0 0 1 0 0 MAST2 23139 broad.mit.edu 37 1 46494567 46494567 + Missense_Mutation SNP G G T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:46494567G>T ENST00000361297.2 + 18 2463 c.2180G>T c.(2179-2181)gGa>gTa p.G727V MAST2_ENST00000372008.1_Missense_Mutation_p.G612V|MAST2_ENST00000372009.2_Missense_Mutation_p.G657V NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 727 Protein kinase. regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) CCTTTTTTTGGAGATACTCCG 0.547000 200 78 9.07414e-75 9.28132e-75 1 1 0 C2orf16 84226 broad.mit.edu 37 2 27800177 27800177 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:27800177G>A ENST00000408964.2 + 1 789 c.738G>A c.(736-738)aaG>aaA p.K246K NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 246 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) CCCGAGTTAAGGATGTGGGGG 0.433000 64 36 0 0 1 0 0 PRKCQ 5588 broad.mit.edu 37 10 6553154 6553154 + Missense_Mutation SNP T T A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:6553154T>A ENST00000263125.5 - 3 220 c.121A>T c.(121-123)Aac>Tac p.N41Y PRKCQ_ENST00000539722.1_5'UTR|PRKCQ_ENST00000397176.2_Missense_Mutation_p.N41Y NM_006257.3 NP_006248.1 Q04759 KPCT_HUMAN protein kinase C, theta 41 C2. axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity p.N41Y(1) NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 ATCTGCCCGTTCTCTAGGAAC 0.463000 35 7 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 978050 978050 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:978050C>T ENST00000537687.1 + 9 3801 c.3158C>T c.(3157-3159)tCc>tTc p.S1053F WNK1_ENST00000530271.2_Missense_Mutation_p.S1138F|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000574564.1_Missense_Mutation_p.S352F NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 808 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) TCCAGTGATTCCTCACAAATC 0.488000 66 48 0 0 1 0 0 C1orf50 79078 broad.mit.edu 37 1 43240423 43240423 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:43240423C>T ENST00000372525.5 + 4 341 c.298C>T c.(298-300)Cac>Tac p.H100Y C1orf50_ENST00000536543.1_5'UTR|C1orf50_ENST00000468913.2_3'UTR NM_024097.3 NP_077002.2 Q9BV19 CA050_HUMAN chromosome 1 open reading frame 50 100 large_intestine(2)|ovary(1)|pancreas(1) 4 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GGAAGATGCTCACAGAGATGC 0.383000 18 127 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94693336 94693336 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:94693336C>T ENST00000282020.4 + 16 2969 c.2711C>T c.(2710-2712)cCt>cTt p.P904L GRID2_ENST00000510992.1_Missense_Mutation_p.P809L NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 904 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) GATTTGACCCCTCTGGACATT 0.458000 20 59 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79461888 79461888 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:79461888G>A ENST00000264895.6 + 74 12089 c.11649G>A c.(11647-11649)atG>atA p.M3883I NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3878 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 GCACCAATATGAAGTCCCTGA 0.537000 3 16 0 0 1 0 0 SLC5A4 6527 broad.mit.edu 37 22 32630983 32630983 + Silent SNP A A G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:32630983A>G ENST00000266086.4 - 8 773 c.762T>C c.(760-762)agT>agC p.S254S RP1-90G24.10_ENST00000434942.1_RNA NM_014227.2 NP_055042.1 Q9NY91 SC5A4_HUMAN solute carrier family 5 (glucose activated ion channel), member 4 254 carbohydrate transport|sodium ion transport integral to membrane symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GTGTGTAGCAACTGGCACTGA 0.498000 60 106 0 0 1 0 0 TMEM184A 202915 broad.mit.edu 37 7 1586815 1586815 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:1586815G>A ENST00000297477.5 - 9 1331 c.1015C>T c.(1015-1017)Ccc>Tcc p.P339S NM_001097620.1 NP_001091089.1 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 339 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) GGTGCCGGGGGGGCTGGGGGA 0.667000 16 8 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1041590 1041590 + Missense_Mutation SNP G G C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:1041590G>C ENST00000263094.6 + 3 379 c.148G>C c.(148-150)Gag>Cag p.E50Q ABCA7_ENST00000433129.1_Missense_Mutation_p.E50Q NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 50 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCCGCCCCTGGAGCACCATGA 0.617000 26 33 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2044108 2044108 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:2044108G>A ENST00000262113.4 + 18 2288 c.2147G>A c.(2146-2148)gGg>gAg p.G716E MYOM2_ENST00000523438.1_Missense_Mutation_p.G141E NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 716 Fibronectin type-III 4. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) CATCCTTATGGGATTACGCTC 0.617000 56 92 0 0 1 0 0 CAMTA1 23261 broad.mit.edu 37 1 7812586 7812586 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:7812586C>T ENST00000303635.7 + 21 5158 c.4951C>T c.(4951-4953)Cgc>Tgc p.R1651C CAMTA1_ENST00000476864.1_Missense_Mutation_p.R215C|CAMTA1_ENST00000439411.2_Missense_Mutation_p.R1637C NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 1651 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) TCGCCGCTGTCGCCACAGGTA 0.418000 T WWTR1 epitheliod hemangioendothelioma 6 44 0 0 1 0 0 SUGP2 10147 broad.mit.edu 37 19 19112442 19112442 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:19112442G>A ENST00000601879.1 - 8 3268 c.2971C>T c.(2971-2973)Cgt>Tgt p.R991C SUGP2_ENST00000337018.6_Missense_Mutation_p.R991C|SUGP2_ENST00000456085.2_Missense_Mutation_p.R760C|SUGP2_ENST00000452918.2_Missense_Mutation_p.R991C|SUGP2_ENST00000600377.1_Missense_Mutation_p.R1005C Q8IX01 SUGP2_HUMAN SURP and G patch domain containing 2 991 mRNA processing|RNA splicing nucleus RNA binding p.R991C(1) NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 GACATGGGACGACCCCGAGGC 0.423000 17 6 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40066044 40066044 + Splice_Site SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:40066044C>T ENST00000336649.4 + 28 4214 c.4212_splice c.e28-1 p.P1405_splice CACNA1I_ENST00000404898.1_Splice_Site_p.P1364_splice|CACNA1I_ENST00000402142.3_Splice_Site_p.P1399_splice|CACNA1I_ENST00000401624.1_Splice_Site_p.P1399_splice|CACNA1I_ENST00000400164.3_Splice_Site_p.P1364_splice|CACNA1I_ENST00000407673.1_Splice_Site_p.P1364_splice Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 1399 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CCCCTGCAGCCTGTGACCAAC 0.582000 106 171 0 0 1 0 0 TTC7B 145567 broad.mit.edu 37 14 91007886 91007886 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:91007886G>A ENST00000357056.2 - 21 2530 c.2409C>T c.(2407-2409)atC>atT p.I803I TTC7B_ENST00000328459.6_Silent_p.I786I|TTC7B_ENST00000554654.1_5'UTR Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 786 binding NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 36 Melanoma(154;0.222) CGTCCCGGAGGATCTTCTCCG 0.632000 15 17 0 0 1 0 0 CCDC9 26093 broad.mit.edu 37 19 47763920 47763920 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:47763920C>T ENST00000221922.6 + 5 508 c.286C>T c.(286-288)Cct>Tct p.P96S NM_015603.2 NP_056418.1 Q9Y3X0 CCDC9_HUMAN coiled-coil domain containing 9 96 Gly-rich. endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1) 12 all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114) OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183) GGGCCGGACTCCTCCACAGCA 0.721000 22 23 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48691182 48691182 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:48691182G>A ENST00000314191.2 - 84 11744 c.11688C>T c.(11686-11688)ttC>ttT p.F3896F PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.F3865F NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 3897 PI3K/PI4K. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GGAGCGCCAGGAAAGCCTCAG 0.567000 Non-homologous end-joining 8 13 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 4494906 4494906 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:4494906G>A ENST00000602557.1 - 2 815 c.260C>T c.(259-261)tCa>tTa p.S87L CSMD1_ENST00000400186.3_Missense_Mutation_p.S87L|CSMD1_ENST00000542608.1_Missense_Mutation_p.S87L|CSMD1_ENST00000539096.1_Missense_Mutation_p.S87L|CSMD1_ENST00000602723.1_Missense_Mutation_p.S87L|CSMD1_ENST00000537824.1_Missense_Mutation_p.S87L|CSMD1_ENST00000520002.1_Missense_Mutation_p.S87L Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 87 CUB 1. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ATCGTAAACTGATAAAATATC 0.378000 41 45 0 0 1 0 0 MASP1 5648 broad.mit.edu 37 3 186943126 186943126 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:186943126C>T ENST00000337774.5 - 13 2116 c.1727G>A c.(1726-1728)gGa>gAa p.G576E NM_001879.5 NP_001870.3 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 576 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) CTGCTGGGGTCCCTCAGGCAG 0.572000 15 44 0 0 1 0 0 SLAMF9 89886 broad.mit.edu 37 1 159922202 159922202 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:159922202G>A ENST00000368093.3 - 3 630 c.514C>T c.(514-516)Cgg>Tgg p.R172W SLAMF9_ENST00000368092.3_Intron|SLAMF9_ENST00000466773.1_5'UTR NM_033438.3 NP_254273.2 Q96A28 SLAF9_HUMAN SLAM family member 9 172 Ig-like C2-type. integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 13 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CTATCCCCCCGGGAGAGCCAG 0.577000 82 120 0 0 1 0 0 C2orf54 79919 broad.mit.edu 37 2 241831026 241831026 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:241831026G>A ENST00000307486.8 - 2 320 c.222C>T c.(220-222)ttC>ttT p.F74F C2orf54_ENST00000402775.2_Silent_p.F55F|C2orf54_ENST00000388934.4_Silent_p.F223F Q08AI8 CB054_HUMAN chromosome 2 open reading frame 54 223 haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1) 6 all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) TGCCCTCAGGGAATCCGGGCA 0.652000 23 85 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164783060 164783060 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:164783060G>A ENST00000264382.3 - 7 858 c.796C>T c.(796-798)Ctt>Ttt p.L266F NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 266 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TCACCAGGAAGTTGGTCTCGA 0.294000 HNSCC(35;0.089) 9 23 0 0 1 0 0 HR 55806 broad.mit.edu 37 8 21984860 21984860 + Silent SNP G G C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:21984860G>C ENST00000381418.4 - 3 2575 c.1095C>G c.(1093-1095)gcC>gcG p.A365A HR_ENST00000312841.8_Silent_p.A365A NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated 365 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) TGGGGCCAGAGGCCTTGTTCA 0.647000 72 110 0 0 1 0 0 DLK2 65989 broad.mit.edu 37 6 43420809 43420809 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:43420809C>T ENST00000357338.3 - 4 905 c.205G>A c.(205-207)Ggt>Agt p.G69S DLK2_ENST00000372485.1_Missense_Mutation_p.G69S|DLK2_ENST00000414245.1_Missense_Mutation_p.G69S|DLK2_ENST00000372488.3_Missense_Mutation_p.G69S NM_206539.1 NP_996262.1 Q6UY11 DLK2_HUMAN delta-like 2 homolog (Drosophila) 69 EGF-like 2. integral to membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) TGGCAGGTACCGTGCTGGCAG 0.632000 10 30 0 0 1 0 0 ITGA5 3678 broad.mit.edu 37 12 54803033 54803033 + Missense_Mutation SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:54803033T>C ENST00000293379.4 - 4 827 c.566A>G c.(565-567)tAt>tGt p.Y189C RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 189 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 GCAGGGTGCATACTCCAGAAT 0.577000 11 33 0 0 1 0 0 ABCC9 10060 broad.mit.edu 37 12 21997764 21997764 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:21997764C>T ENST00000261200.4 - 25 3181 c.3182G>A c.(3181-3183)gGt>gAt p.G1061D RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.G1025D|ABCC9_ENST00000261201.4_Missense_Mutation_p.G1061D NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 1061 ABC transmembrane type-1 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AGCTGTGAGACCCATCCATTC 0.418000 18 38 0 0 1 0 0 CLCNKA 1187 broad.mit.edu 37 1 16352730 16352730 + Silent SNP C C T rs115351575 byFrequency TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:16352730C>T ENST00000375692.1 + 6 614 c.486C>T c.(484-486)ttC>ttT p.F162F CLCNKA_ENST00000439316.2_Silent_p.F119F|CLCNKA_ENST00000420078.1_Silent_p.F162F|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Silent_p.F162F P51800 CLCKA_HUMAN chloride channel, voltage-sensitive Ka 162 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) GCACCCTGTTCCTGGGCAAAG 0.632000 68 29 0 0 1 0 0 HPDL 84842 broad.mit.edu 37 1 45793816 45793816 + Silent SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:45793816T>C ENST00000334815.3 + 1 1272 c.996T>C c.(994-996)acT>acC p.T332T NM_032756.2 NP_116145.1 Q96IR7 HPDL_HUMAN 4-hydroxyphenylpyruvate dioxygenase-like 332 aromatic amino acid family metabolic process 4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 Acute lymphoblastic leukemia(166;0.155) CCCTTTTTACTGAGGACACTT 0.542000 16 119 0 0 1 0 0 PARK2 5071 broad.mit.edu 37 6 162864378 162864378 + Silent SNP G G A rs149699346 TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:162864378G>A ENST00000366898.1 - 2 237 c.135C>T c.(133-135)ttC>ttT p.F45F PARK2_ENST00000366896.1_Silent_p.F45F|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366894.1_5'UTR|PARK2_ENST00000366897.1_Silent_p.F45F|PARK2_ENST00000366892.1_Silent_p.F45F NM_004562.2 NP_004553.2 O60260 PRKN2_HUMAN parkin RBR E3 ubiquitin protein ligase 45 Ubiquitin-like. aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) CCTTCCCTGCGAAAATCACAC 0.592000 34 36 0 0 1 0 0 LURAP1 541468 broad.mit.edu 37 1 46685847 46685847 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:46685847C>T ENST00000371980.3 + 2 768 c.675C>T c.(673-675)gcC>gcT p.A225A POMGNT1_ENST00000396420.3_5'UTR|POMGNT1_ENST00000371992.1_5'UTR NM_001013615.2 NP_001013633.1 Q96LR2 CA190_HUMAN leucine rich adaptor protein 1 225 positive regulation of cytokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm GCTTCGAGGCCCACTGGTTCT 0.532000 11 82 0 0 1 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70713782 70713782 + RNA SNP A A G rs114580810 by1000genomes TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:70713782A>G ENST00000530196.1 - 0 736 NR_003951.1 GTCACCAGCAAATTTTGGTTC 0.443000 3 77 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16257320 16257320 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:16257320C>T ENST00000375759.3 + 11 4789 c.4585C>T c.(4585-4587)Cgt>Tgt p.R1529C NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 1529 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GTTTGCTTCTCGTTTTTTACA 0.383000 9 57 0 0 1 0 0 C1S 716 broad.mit.edu 37 12 7177180 7177180 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:7177180C>T ENST00000406697.1 + 15 1920 c.1292C>T c.(1291-1293)cCc>cTc p.P431L C1S_ENST00000402681.3_Missense_Mutation_p.P264L|C1S_ENST00000360817.5_Missense_Mutation_p.P431L|C1S_ENST00000328916.3_Missense_Mutation_p.P431L|C1S_ENST00000495061.1_3'UTR P09871 C1S_HUMAN complement component 1, s subcomponent 431 complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) CCCAGAGAACCCTTTGAAGAA 0.468000 23 66 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73405699 73405699 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:73405699C>T ENST00000224721.6 + 12 1272 c.1267C>T c.(1267-1269)Cca>Tca p.P423S CDH23_ENST00000299366.7_Missense_Mutation_p.P463S|CDH23_ENST00000461841.3_Missense_Mutation_p.P463S|CDH23_ENST00000398809.4_Missense_Mutation_p.P418S|CDH23_ENST00000398842.3_Missense_Mutation_p.P418S NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 418 Cadherin 4. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GGTGGCCATCCCACTGGACTA 0.587000 34 3 0 0 1 0 0 CCDC37 348807 broad.mit.edu 37 3 126137305 126137305 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:126137305G>A ENST00000393425.1 + 6 525 c.426G>A c.(424-426)aaG>aaA p.K142K CCDC37_ENST00000505024.1_Silent_p.K142K|CCDC37_ENST00000352312.1_Silent_p.K141K Q494V2 CCD37_HUMAN coiled-coil domain containing 37 141 p.K141N(1) NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3) 23 GBM - Glioblastoma multiforme(114;0.166) CAGCAGAAAAGAATGTGGAGC 0.607000 30 25 0 0 1 0 0 TBX10 347853 broad.mit.edu 37 11 67402308 67402308 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:67402308G>A ENST00000335385.3 - 3 443 c.356C>T c.(355-357)cCc>cTc p.P119L NM_005995.4 NP_005986.2 O75333 TBX10_HUMAN T-box 10 119 anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|lung(4)|ovary(1) 7 GTCGTCCAGGGGGATGAAGTC 0.622000 29 38 0 0 1 0 0 SNAPC2 6618 broad.mit.edu 37 19 7987561 7987561 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:7987561C>T ENST00000221573.6 + 5 968 c.917C>T c.(916-918)tCg>tTg p.S306L SNAPC2_ENST00000597584.1_Missense_Mutation_p.S69L NM_003083.3 NP_003074.1 Q13487 SNPC2_HUMAN small nuclear RNA activating complex, polypeptide 2, 45kDa 306 snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1) 6 GAACTGAAATCGCCTTGGCAA 0.682000 33 93 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75982509 75982509 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr15:75982509G>A ENST00000308508.5 - 3 989 c.897C>T c.(895-897)tcC>tcT p.S299S NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 299 Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 ACTGGTCCACGGAGATTTCCA 0.612000 22 3 0 0 1 0 0 WRN 7486 broad.mit.edu 37 8 30958413 30958413 + Missense_Mutation SNP G G C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:30958413G>C ENST00000298139.5 + 18 2279 c.2030G>C c.(2029-2031)gGg>gCg p.G677A NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 677 Helicase ATP-binding. base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) TCTGAGTGGGGGCATGATTTT 0.408000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 8 15 0 0 1 0 0 OR9G4 283189 broad.mit.edu 37 11 56510724 56510724 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:56510724G>A ENST00000302957.3 - 1 563 c.564C>T c.(562-564)atC>atT p.I188I NM_001005284.1 NP_001005284.1 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, member 4 188 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 AGTGGTCAATGATATTTTTAC 0.448000 6 25 0 0 1 0 0 DOCK10 55619 broad.mit.edu 37 2 225729787 225729787 + Silent SNP C C A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:225729787C>A ENST00000409592.3 - 12 1370 c.1257G>T c.(1255-1257)gtG>gtT p.V419V DOCK10_ENST00000258390.7_Silent_p.V425V Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 425 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) GTGCCACACTCACAAAAAAAG 0.393000 20 84 3.5997e-14 3.6527e-14 1 1 0 ABCA13 154664 broad.mit.edu 37 7 48312493 48312493 + Missense_Mutation SNP T T A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:48312493T>A ENST00000435803.1 + 17 3254 c.3230T>A c.(3229-3231)aTt>aAt p.I1077N NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1077 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GATTTTCGTATTTCTTTATTT 0.378000 9 4 0 0 1 0 0 TBX15 6913 broad.mit.edu 37 1 119427481 119427481 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:119427481C>T ENST00000369429.3 - 8 1692 c.1683G>A c.(1681-1683)ggG>ggA p.G561G TBX15_ENST00000207157.3_Silent_p.G455G Q96SF7 TBX15_HUMAN T-box 15 561 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) TGTGCTCCATCCCTGACGGCA 0.547000 8 57 0 0 1 0 0 SLC43A3 29015 broad.mit.edu 37 11 57188447 57188447 + Missense_Mutation SNP T T G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:57188447T>G ENST00000395123.2 - 7 833 c.529A>C c.(529-531)Aag>Cag p.K177Q SLC43A3_ENST00000529554.1_Missense_Mutation_p.K177Q|SLC43A3_ENST00000533524.1_Missense_Mutation_p.K190Q|SLC43A3_ENST00000395124.1_Missense_Mutation_p.K177Q|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000352187.1_Missense_Mutation_p.K177Q NM_001278201.1|NM_014096.2 NP_001265130.1|NP_054815.2 Q8NBI5 S43A3_HUMAN solute carrier family 43, member 3 177 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 ATATTTACCTTAATAATAAGG 0.443000 14 10 0 0 1 0 0 EMR1 2015 broad.mit.edu 37 19 6897288 6897288 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:6897288G>A ENST00000312053.4 + 4 404 c.367G>A c.(367-369)Gga>Aga p.G123R EMR1_ENST00000381404.4_Intron|EMR1_ENST00000450315.3_Missense_Mutation_p.G123R|EMR1_ENST00000250572.8_Missense_Mutation_p.G123R|EMR1_ENST00000601198.1_3'UTR|EMR1_ENST00000381407.5_Intron NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 123 EGF-like 2; calcium-binding (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) CTGGGTCCCAGGAAAGCCGGG 0.502000 11 17 0 0 1 0 0 MDGA1 266727 broad.mit.edu 37 6 37618062 37618062 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:37618062C>T ENST00000434837.2 - 8 2610 c.1432G>A c.(1432-1434)Gtg>Atg p.V478M MDGA1_ENST00000505425.1_Missense_Mutation_p.V478M|MDGA1_ENST00000297153.7_Missense_Mutation_p.V478M NM_153487.3 NP_705691.1 Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 478 Ig-like 5. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 TCCTTGTCCACGCGGGACCAG 0.716000 5 5 0 0 1 0 0 PTPRU 10076 broad.mit.edu 37 1 29581913 29581913 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:29581913C>T ENST00000373779.3 + 2 329 c.200C>T c.(199-201)cCc>cTc p.P67L PTPRU_ENST00000356870.3_Missense_Mutation_p.P67L|PTPRU_ENST00000345512.3_Missense_Mutation_p.P67L|PTPRU_ENST00000323874.8_Missense_Mutation_p.P67L|PTPRU_ENST00000460170.2_Missense_Mutation_p.P67L|PTPRU_ENST00000428026.2_Missense_Mutation_p.P67L NM_001195001.1|NM_133178.3 NP_001181930.1|NP_573439.2 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 67 MAM. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) GCGGACCTGCCCCACGGTAAG 0.592000 16 125 0 0 1 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216499 20216499 + Missense_Mutation SNP A A G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:20216499A>G ENST00000331723.1 + 1 913 c.913A>G c.(913-915)Aaa>Gaa p.K305E NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 305 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GCTGAGGATAAAACCATGTGG 0.393000 32 68 0 0 1 0 0 MOGAT3 346606 broad.mit.edu 37 7 100842081 100842081 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:100842081G>A ENST00000223114.4 - 4 485 c.319C>T c.(319-321)Cgg>Tgg p.R107W MOGAT3_ENST00000379423.3_Missense_Mutation_p.R107W|MOGAT3_ENST00000440203.2_Missense_Mutation_p.R107W NM_178176.2 NP_835470.1 Q86VF5 MOGT3_HUMAN monoacylglycerol O-acyltransferase 3 107 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3) 22 Lung NSC(181;0.168)|all_lung(186;0.215) ACGTAGTTCCGATCCGGGGGC 0.592000 41 31 0 0 1 0 0 UGGT1 56886 broad.mit.edu 37 2 128867287 128867287 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:128867287C>T ENST00000375990.3 + 5 819 c.416C>T c.(415-417)aCc>aTc p.T139I UGGT1_ENST00000259253.6_Missense_Mutation_p.T163I Q9NYU2 UGGG1_HUMAN UDP-glucose glycoprotein glucosyltransferase 1 163 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 GAATCTGATACCCTTGAGGCT 0.413000 45 22 0 0 1 0 0 PARP12 64761 broad.mit.edu 37 7 139724604 139724604 + Missense_Mutation SNP C C A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:139724604C>A ENST00000263549.3 - 12 2735 c.1862G>T c.(1861-1863)cGg>cTg p.R621L NM_022750.2 NP_073587.1 Q9H0J9 PAR12_HUMAN poly (ADP-ribose) polymerase family, member 12 621 PARP catalytic. nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 19 Melanoma(164;0.0142) CACCAGCACCCGGGCCAGGAA 0.592000 8 39 0.000274275 0.000275197 1 1 0 TDRD1 56165 broad.mit.edu 37 10 115987843 115987843 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:115987843C>T ENST00000251864.2 + 25 3650 c.3497C>T c.(3496-3498)aCc>aTc p.T1166I TDRD1_ENST00000422662.1_Missense_Mutation_p.T694I|TDRD1_ENST00000369282.1_Missense_Mutation_p.T1090I|TDRD1_ENST00000369281.2_Missense_Mutation_p.T1052I|TDRD1_ENST00000369280.1_Missense_Mutation_p.T1090I NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 1166 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) AACAATTCAACCAATCAAAAT 0.289000 7 2 0 0 1 0 0 MYO5C 55930 broad.mit.edu 37 15 52537603 52537603 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr15:52537603G>A ENST00000261839.7 - 18 2287 c.2126C>T c.(2125-2127)tCc>tTc p.S709F MYO5C_ENST00000443683.2_3'UTR NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 709 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) ATCGCTGAAGGAAAGCTCTTG 0.498000 60 11 0 0 1 0 0 RSPH6A 81492 broad.mit.edu 37 19 46318389 46318389 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:46318389G>A ENST00000221538.3 - 1 188 c.46C>T c.(46-48)Ccg>Tcg p.P16S RSPH6A_ENST00000597055.1_Missense_Mutation_p.P16S NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 16 intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 CTCCGGCCCGGAGGCTGCTGG 0.662000 14 11 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55540310 55540310 + Nonsense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:55540310C>T ENST00000220676.1 + 4 4016 c.3868C>T c.(3868-3870)Cag>Tag p.Q1290* NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1290 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TGGTGTGGATCAGACTTCTAT 0.408000 58 111 0 0 1 0 0 DENND1C 79958 broad.mit.edu 37 19 6479031 6479031 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:6479031G>A ENST00000381480.2 - 5 325 c.213C>T c.(211-213)ttC>ttT p.F71F DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Silent_p.F27F NM_024898.2 NP_079174.2 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 71 UDENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity endometrium(3)|kidney(3)|large_intestine(1)|lung(3) 10 CTGTGAGGGCGAAGGTGAAAT 0.642000 20 63 0 0 1 0 0 OR6C74 254783 broad.mit.edu 37 12 55641350 55641350 + Missense_Mutation SNP C C A rs144439510 TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:55641350C>A ENST00000343870.4 + 1 369 c.279C>A c.(277-279)aaC>aaA p.N93K NM_001005490.1 NP_001005490.1 A6NCV1 O6C74_HUMAN olfactory receptor, family 6, subfamily C, member 74 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1) 12 TTTCTTACAACGATTGTGCAG 0.413000 41 128 5.44703e-19 5.53349e-19 1 1 0 KLF11 8462 broad.mit.edu 37 2 10192463 10192463 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:10192463C>T ENST00000535335.1 + 4 1533 c.1317C>T c.(1315-1317)tgC>tgT p.C439C KLF11_ENST00000305883.1_Silent_p.C456C|KLF11_ENST00000540845.1_Silent_p.C439C NM_001177718.1 NP_001171189.1 O14901 KLF11_HUMAN Kruppel-like factor 11 456 apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle nucleus sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228) AGTTTGTGTGCCCGGTGTGTG 0.567000 24 65 0 0 1 0 0 ABLIM2 84448 broad.mit.edu 37 4 8055967 8055967 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:8055967G>A ENST00000318888.4 - 8 912 c.41C>T c.(40-42)tCc>tTc p.S14F ABLIM2_ENST00000341937.5_Missense_Mutation_p.S257F|ABLIM2_ENST00000428004.2_Missense_Mutation_p.S257F|ABLIM2_ENST00000505872.1_Missense_Mutation_p.S257F|ABLIM2_ENST00000407564.3_Missense_Mutation_p.S257F|ABLIM2_ENST00000545242.1_Missense_Mutation_p.S257F|ABLIM2_ENST00000361581.5_Missense_Mutation_p.S257F|ABLIM2_ENST00000514025.1_Missense_Mutation_p.S14F|ABLIM2_ENST00000447017.2_Missense_Mutation_p.S257F|ABLIM2_ENST00000296372.8_Missense_Mutation_p.S257F|ABLIM2_ENST00000546334.1_Missense_Mutation_p.S257F|ABLIM2_ENST00000361737.5_Missense_Mutation_p.S257F Q6H8Q1 ABLM2_HUMAN actin binding LIM protein family, member 2 257 axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1) 25 ATGCCAGATGGAGGAACCTGT 0.522000 8 20 0 0 1 0 0 GJA8 2703 broad.mit.edu 37 1 147380211 147380211 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:147380211C>T ENST00000240986.4 + 2 182 c.129C>T c.(127-129)ttC>ttT p.F43F GJA8_ENST00000369235.1_Silent_p.F43F NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 43 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) CCGCAGAGTTCGTGTGGGGGG 0.592000 18 107 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141243007 141243007 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:141243007G>A ENST00000389484.3 - 59 10301 c.9330C>T c.(9328-9330)atC>atT p.I3110I NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3110 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATACTTCAATGATTCTTTTTT 0.413000 TSP Lung(27;0.18) 11 50 0 0 1 0 0 ASB5 140458 broad.mit.edu 37 4 177146478 177146478 + Nonsense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:177146478G>A ENST00000296525.3 - 2 324 c.211C>T c.(211-213)Cga>Tga p.R71* ASB5_ENST00000512254.1_Nonsense_Mutation_p.R18*|ASB5_ENST00000511879.1_5'UTR NM_080874.3 NP_543150.1 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box containing 5 71 intracellular signal transduction p.R71*(1) endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2) 34 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) AGTGGTGATCGATCTGCCCAG 0.363000 22 23 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17052778 17052778 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:17052778C>T ENST00000418129.2 + 2 2027 c.1562C>T c.(1561-1563)tCc>tTc p.S521F PLCL2_ENST00000396755.2_Missense_Mutation_p.S521F|PLCL2_ENST00000432376.1_Missense_Mutation_p.S521F NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 647 PI-PLC X-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 GAAGTCTGTTCCTTTAATGAA 0.413000 38 45 0 0 1 0 0 VPS33A 65082 broad.mit.edu 37 12 122717444 122717444 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:122717444G>A ENST00000267199.4 - 12 1624 c.1512C>T c.(1510-1512)tcC>tcT p.S504S RP11-512M8.5_ENST00000535844.1_Silent_p.S465S NM_022916.4 NP_075067.2 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33 homolog A (S. cerevisiae) 504 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 28 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) AGCCAGGCCGGGAAAGCAGCT 0.587000 19 15 0 0 1 0 0 ZNF423 23090 broad.mit.edu 37 16 49671830 49671830 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:49671830G>A ENST00000561648.1 - 4 1286 c.1233C>T c.(1231-1233)tgC>tgT p.C411C ZNF423_ENST00000562871.1_Silent_p.C351C|ZNF423_ENST00000562520.1_Silent_p.C351C|ZNF423_ENST00000262383.2_Silent_p.C411C|ZNF423_ENST00000563137.2_Silent_p.C351C|ZNF423_ENST00000535559.1_Silent_p.C294C|ZNF423_ENST00000567169.1_Silent_p.C294C NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 411 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) AACAATAGGGGCAGCTATAGA 0.617000 32 30 0 0 1 0 0 CCDC64 92558 broad.mit.edu 37 12 120502576 120502576 + Missense_Mutation SNP C C A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:120502576C>A ENST00000397558.2 + 4 802 c.802C>A c.(802-804)Cgt>Agt p.R268S CCDC64_ENST00000446727.2_Missense_Mutation_p.R12S NM_207311.2 NP_997194.2 Q6ZP65 BICR1_HUMAN coiled-coil domain containing 64 268 Golgi to secretory granule transport|neuron projection development centrosome dynactin binding|Rab GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 22 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCTGGAGCATCGTCTCAGCGC 0.567000 27 84 4.87955e-14 4.94859e-14 1 1 0 C1orf94 84970 broad.mit.edu 37 1 34667734 34667734 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:34667734G>A ENST00000488417.1 + 4 1440 c.1320G>A c.(1318-1320)ggG>ggA p.G440G C1orf94_ENST00000373374.3_Silent_p.G250G NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 250 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) AGTACACAGGGAATGTTTTCA 0.537000 17 65 0 0 1 0 0 ITGB4 3691 broad.mit.edu 37 17 73744962 73744962 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:73744962G>A ENST00000200181.3 + 27 3339 c.3152G>A c.(3151-3153)gGg>gAg p.G1051E ITGB4_ENST00000449880.2_Missense_Mutation_p.G1051E|ITGB4_ENST00000339591.3_Missense_Mutation_p.G1051E|ITGB4_ENST00000579662.1_Missense_Mutation_p.G1051E|ITGB4_ENST00000450894.3_Missense_Mutation_p.G1051E NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 1051 Calx-beta. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) TTCCAGCCTGGGGAGGCCTGG 0.652000 9 7 0 0 1 0 0 FAM43A 131583 broad.mit.edu 37 3 194408327 194408327 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:194408327C>T ENST00000329759.4 + 1 1706 c.772C>T c.(772-774)Ctc>Ttc p.L258F NM_153690.4 NP_710157.2 Q8N2R8 FA43A_HUMAN family with sequence similarity 43, member A 258 breast(2)|central_nervous_system(1)|lung(6)|skin(1) 10 all_cancers(143;2.04e-08)|Ovarian(172;0.0634) Lung NSC(153;0.147) OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;1.78e-05) CGAGGACCTGCTCGGCGAACA 0.672000 4 1 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3794898 3794898 + Nonsense_Mutation SNP T T A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:3794898T>A ENST00000262367.5 - 23 4788 c.3979A>T c.(3979-3981)Aag>Tag p.K1327* CREBBP_ENST00000382070.3_Nonsense_Mutation_p.K1289* NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1327 Cys/His-rich. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) AACTTACTCTTAGCACTGAAT 0.388000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 14 16 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19473577 19473577 + Missense_Mutation SNP C C A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:19473577C>A ENST00000507958.1 - 15 3121 c.2131G>T c.(2131-2133)Gat>Tat p.D711Y CDH18_ENST00000382275.1_Missense_Mutation_p.D711Y|CDH18_ENST00000274170.4_Missense_Mutation_p.D711Y|CDH18_ENST00000510297.1_5'UTR Q13634 CAD18_HUMAN cadherin 18, type 2 711 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) TCCTGAACATCTATGCTTTCC 0.493000 14 55 4.3838e-07 4.41584e-07 1 1 0 HSF2 3298 broad.mit.edu 37 6 122734774 122734774 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:122734774C>T ENST00000452194.1 + 4 622 c.435C>T c.(433-435)tcC>tcT p.S145S HSF2_ENST00000368455.4_Silent_p.S145S NM_001135564.1 NP_001129036.1 Q03933 HSF2_HUMAN heat shock transcription factor 2 145 Hydrophobic repeat HR-A/B. response to stress|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription coactivator activity large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586) CTATTGAGTCCAGGCTTTCTG 0.323000 26 22 0 0 1 0 0 ACTL9 284382 broad.mit.edu 37 19 8808646 8808646 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:8808646C>T ENST00000324436.3 - 1 526 c.406G>A c.(406-408)Gac>Aac p.D136N NM_178525.3 NP_848620.2 Q8TC94 ACTL9_HUMAN actin-like 9 136 cytoplasm|cytoskeleton NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 36 ACTCGGAGGTCGTGCTCCAGC 0.687000 21 36 0 0 1 0 0 SMC1A 8243 broad.mit.edu 37 X 53436077 53436077 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:53436077G>A ENST00000322213.4 - 9 1588 c.1461C>T c.(1459-1461)gcC>gcT p.A487A SMC1A_ENST00000375340.6_Silent_p.A253A NM_006306.2 NP_006297.2 Q14683 SMC1A_HUMAN structural maintenance of chromosomes 1A 487 cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2) 49 GGTCGATGCGGGCATCCCCTA 0.572000 20 4 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553695 140553695 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:140553695G>A ENST00000231137.3 + 1 1453 c.1279G>A c.(1279-1281)Ggg>Agg p.G427R NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 427 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CACCGACTTGGGGACACCCAG 0.512000 38 22 0 0 1 0 0 SCIN 85477 broad.mit.edu 37 7 12680050 12680050 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:12680050G>A ENST00000297029.5 + 11 1590 c.1489G>A c.(1489-1491)Gga>Aga p.G497R SCIN_ENST00000519209.1_Missense_Mutation_p.G250R|SCIN_ENST00000445618.2_Missense_Mutation_p.G250R NM_001112706.2 NP_001106177.1 Q9Y6U3 ADSV_HUMAN scinderin 497 Ca(2+)-dependent actin binding. actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation cell cortex|cytoskeleton 1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 17 UCEC - Uterine corpus endometrioid carcinoma (126;0.195) TTACAAGAATGGAACATCAAA 0.488000 4 16 0 0 1 0 0 TNFRSF11B 4982 broad.mit.edu 37 8 119941138 119941138 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:119941138C>T ENST00000297350.4 - 3 809 c.431G>A c.(430-432)aGa>aAa p.R144K NM_002546.3 NP_002537.3 O00300 TR11B_HUMAN tumor necrosis factor receptor superfamily, member 11b 144 apoptosis|skeletal system development cytokine activity|receptor activity breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1) 25 all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00193) ATCTGGACATCTTTTGCAAAC 0.428000 30 44 0 0 1 0 0 CDH5 1003 broad.mit.edu 37 16 66423333 66423333 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:66423333G>A ENST00000341529.3 + 5 837 c.689G>A c.(688-690)cGa>cAa p.R230Q CDH5_ENST00000563425.2_Missense_Mutation_p.R230Q NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 230 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) GTGGAAGCGCGAGATGCCCAG 0.562000 27 34 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41158841 41158841 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:41158841G>A ENST00000263413.3 - 13 2167 c.1903C>T c.(1903-1905)Ctt>Ttt p.L635F C6_ENST00000337836.5_Missense_Mutation_p.L635F NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 635 complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) ATCTCAGGAAGATCGACCTCT 0.398000 7 23 0 0 1 0 0 CES3 23491 broad.mit.edu 37 16 66998292 66998292 + Missense_Mutation SNP G G C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:66998292G>C ENST00000303334.4 + 5 664 c.593G>C c.(592-594)gGc>gCc p.G198A CES3_ENST00000394037.1_Missense_Mutation_p.G198A NM_024922.5 NP_079198.2 Q6UWW8 EST3_HUMAN carboxylesterase 3 198 endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 24 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127) GGCAACCAGGGCTTCCTAGAT 0.587000 21 29 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39768639 39768639 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:39768639C>T ENST00000564288.1 + 23 3455 c.2678C>T c.(2677-2679)tCt>tTt p.S893F MACF1_ENST00000372915.3_Missense_Mutation_p.S898F|MACF1_ENST00000539005.1_Missense_Mutation_p.S898F|MACF1_ENST00000317713.7_Missense_Mutation_p.S898F|MACF1_ENST00000567887.1_Missense_Mutation_p.S930F|MACF1_ENST00000545844.1_Missense_Mutation_p.S898F|MACF1_ENST00000361689.2_Missense_Mutation_p.S898F|MACF1_ENST00000476350.1_3'UTR Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 898 SH3. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GAAGATAATTCTCAGCGGACC 0.433000 14 55 0 0 1 0 0 BNIP3P1 319138 broad.mit.edu 37 14 28733737 28733737 + RNA SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:28733737C>T ENST00000550043.1 + 0 142 GGACTCCGATCGCCGCAGTTG 0.687000 4 10 0 0 1 0 0 FUT9 10690 broad.mit.edu 37 6 96651333 96651333 + Missense_Mutation SNP A A G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:96651333A>G ENST00000302103.5 + 3 628 c.302A>G c.(301-303)aAc>aGc p.N101S NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 101 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) TCACTGTACAACAAATCCCAT 0.488000 17 40 0 0 1 0 0 RUNDC3B 154661 broad.mit.edu 37 7 87407205 87407205 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:87407205C>T ENST00000338056.3 + 9 1352 c.941C>T c.(940-942)tCc>tTc p.S314F RUNDC3B_ENST00000493037.1_Missense_Mutation_p.S297F|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.S297F NM_001134405.1|NM_138290.2 NP_001127877.1|NP_612147.1 Q96NL0 RUN3B_HUMAN RUN domain containing 3B 314 breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2) 26 Esophageal squamous(14;0.00164) ATTGAAGATTCCGATCTGGCT 0.378000 20 18 0 0 1 0 0 DLGAP5 9787 broad.mit.edu 37 14 55637460 55637460 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:55637460G>A ENST00000247191.2 - 11 1563 c.1347C>T c.(1345-1347)ttC>ttT p.F449F DLGAP5_ENST00000395425.2_Silent_p.F449F NM_014750.4 NP_055565.3 Q15398 DLGP5_HUMAN discs, large (Drosophila) homolog-associated protein 5 449 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 44 TGTCCCACTCGAAGCAATGTG 0.338000 33 24 0 0 1 0 0 MYH9 4627 broad.mit.edu 37 22 36684955 36684955 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:36684955G>A ENST00000216181.5 - 33 4818 c.4588C>T c.(4588-4590)Cta>Tta p.L1530L NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1530 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 TGCTGCTCTAGGGCCCGCTTG 0.632000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 32 60 0 0 1 0 0 FCGR1A 2209 broad.mit.edu 37 1 149761663 149761663 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:149761663G>A ENST00000369168.4 + 5 667 c.613G>A c.(613-615)Ggg>Agg p.G205R RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.3_ENST00000428289.1_RNA NM_000566.3 NP_000557.1 P12314 FCGR1_HUMAN Fc fragment of IgG, high affinity Ia, receptor (CD64) 205 Ig-like C2-type 3. interferon-gamma-mediated signaling pathway|phagocytosis, engulfment integral to membrane|plasma membrane IgG binding|receptor activity|receptor signaling protein activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2) 10 Breast(34;0.0124)|all_hematologic(923;0.127) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) ACTCCTGGAGGGGAATCTGGT 0.522000 7 49 0 0 1 0 0 SLC17A7 57030 broad.mit.edu 37 19 49935843 49935843 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:49935843G>A ENST00000221485.3 - 9 1254 c.1083C>T c.(1081-1083)atC>atT p.I361I SLC17A7_ENST00000600601.1_Silent_p.I294I|SLC17A7_ENST00000543531.1_Silent_p.I349I NM_020309.3 NP_064705.1 Q9P2U7 VGLU1_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 7 361 glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 26 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) GGAAGTCCGCGATCTGGCCGC 0.657000 20 9 0 0 1 0 0 TRIP6 7205 broad.mit.edu 37 7 100468252 100468252 + Missense_Mutation SNP C C T rs17855370 TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:100468252C>T ENST00000200457.4 + 6 1246 c.886C>T c.(886-888)Ctt>Ttt p.L296F NM_003302.2 NP_003293.2 Q15654 TRIP6_HUMAN thyroid hormone receptor interactor 6 296 LIM zinc-binding 1. L -> F (in dbSNP:rs17855370). focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent cytoplasm|cytoskeleton|focal adhesion|nucleus identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5) 14 Lung NSC(181;0.041)|all_lung(186;0.0581) GGTTGTGGCCCTTGATCGCGT 0.587000 34 26 0 0 1 0 0 TRAV36DV7 28646 broad.mit.edu 37 14 22694863 22694863 + RNA SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:22694863G>A ENST00000390463.3 + 0 70 TCTACACAGGGGTGAGCAGTG 0.448000 31 17 0 0 1 0 0 MYOF 26509 broad.mit.edu 37 10 95085655 95085655 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:95085655C>T ENST00000371501.4 - 46 5321 c.5199G>A c.(5197-5199)agG>agA p.R1733R MYOF_ENST00000371502.4_Silent_p.R1752R|MYOF_ENST00000358334.5_Silent_p.R1720R|MYOF_ENST00000485212.1_5'UTR|MYOF_ENST00000359263.4_Silent_p.R1733R Q9NZM1 MYOF_HUMAN myoferlin 1733 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 GCCCCTGAGTCCTGAGGATGT 0.557000 77 17 0 0 1 0 0 ZNF652 22834 broad.mit.edu 37 17 47394241 47394241 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:47394241G>A ENST00000362063.2 - 2 1165 c.847C>T c.(847-849)Ctg>Ttg p.L283L ZNF652_ENST00000430262.2_Silent_p.L283L NM_014897.2 NP_055712.1 Q9Y2D9 ZN652_HUMAN zinc finger protein 652 283 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17) BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05) TCACTTTCCAGGACAAACTTC 0.463000 51 16 0 0 1 0 0 FZD1 8321 broad.mit.edu 37 7 90895446 90895446 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:90895446C>T ENST00000287934.2 + 1 1664 c.1251C>T c.(1249-1251)tcC>tcT p.S417S NM_003505.1 NP_003496.1 Q9UP38 FZD1_HUMAN frizzled family receptor 1 417 autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) TGGCCAGCTCCATCTGGTGGG 0.607000 33 16 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43436450 43436450 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:43436450G>A ENST00000395891.1 + 7 1198 c.593G>A c.(592-594)gGa>gAa p.G198E HECW1_ENST00000471043.1_3'UTR|HECW1_ENST00000453890.1_Missense_Mutation_p.G198E NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 198 C2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 ACCGTCCAAGGACAAGGAAGT 0.418000 18 21 0 0 1 0 0 OSCAR 126014 broad.mit.edu 37 19 54600297 54600297 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:54600297G>A ENST00000284648.6 - 4 422 c.225C>T c.(223-225)ttC>ttT p.F75F OSCAR_ENST00000358375.4_Silent_p.F75F|OSCAR_ENST00000359649.4_Silent_p.F79F|OSCAR_ENST00000356532.3_Silent_p.F79F|OSCAR_ENST00000351806.4_Silent_p.F64F|OSCAR_ENST00000391761.1_Silent_p.F64F|OSCAR_ENST00000391760.1_Intron Q8IYS5 OSCAR_HUMAN osteoclast associated, immunoglobulin-like receptor 75 Ig-like 1. extracellular region|integral to membrane|plasma membrane receptor activity large_intestine(1)|skin(1) 2 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) ACACATCCCGGAAGAGAAGGG 0.592000 20 45 0 0 1 0 0 BCAN 63827 broad.mit.edu 37 1 156618407 156618407 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:156618407G>A ENST00000329117.4 + 6 1153 c.817G>A c.(817-819)Gca>Aca p.A273T BCAN_ENST00000361588.5_Missense_Mutation_p.A273T|RP11-284F21.7_ENST00000448869.1_RNA NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 273 Link 2. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ATTGGAGGAAGCACGGGCGTA 0.612000 106 46 0 0 1 0 0 ACTG1 71 broad.mit.edu 37 17 79478295 79478295 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:79478295C>T ENST00000575842.1 - 3 1147 c.721G>A c.(721-723)Gag>Aag p.E241K ACTG1_ENST00000573283.1_Missense_Mutation_p.E241K|ACTG1_ENST00000331925.2_Missense_Mutation_p.E241K|ACTG1_ENST00000575087.1_Missense_Mutation_p.E241K P63261 ACTG_HUMAN actin, gamma 1 241 adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol ATP binding|identical protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1) 29 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547) TCGGGCAGCTCGTAGCTCTTC 0.592000 33 80 0 0 1 0 0 FSCB 84075 broad.mit.edu 37 14 44974480 44974480 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:44974480C>T ENST00000340446.4 - 1 2002 c.1711G>A c.(1711-1713)Gag>Aag p.E571K NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 571 Ala-rich. cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) AGAGGGGCCTCTTCTATAGAA 0.517000 11 30 0 0 1 0 0 MARCO 8685 broad.mit.edu 37 2 119735424 119735424 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:119735424G>A ENST00000541757.1 + 9 825 c.445G>A c.(445-447)Gag>Aag p.E149K MARCO_ENST00000327097.4_Missense_Mutation_p.E227K Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 227 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 ACCCCAAGGAGAGAAGGGCAG 0.582000 3 20 0 0 1 0 0 RSF1 51773 broad.mit.edu 37 11 77387986 77387986 + Silent SNP A A T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:77387986A>T ENST00000308488.6 - 13 3494 c.3192T>A c.(3190-3192)tcT>tcA p.S1064S RSF1_ENST00000360355.2_Silent_p.S1033S|RSF1_ENST00000480887.1_Silent_p.S812S Q96T23 RSF1_HUMAN remodeling and spacing factor 1 1064 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) CCAAAATAGTAGAGATGTCTT 0.463000 12 42 0 0 1 0 0 HIP1 3092 broad.mit.edu 37 7 75192297 75192297 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:75192297G>A ENST00000336926.6 - 11 988 c.962C>T c.(961-963)cCc>cTc p.P321L HIP1_ENST00000434438.2_Missense_Mutation_p.P321L NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 321 activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 CTCGCTGTCGGGGGATGAGGC 0.572000 T PDGFRB CMML 7 31 0 0 1 0 0 OR8D1 283159 broad.mit.edu 37 11 124180162 124180162 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:124180162G>A ENST00000357821.2 - 1 571 c.501C>T c.(499-501)tcC>tcT p.S167S NM_001002917.1 NP_001002917.1 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, member 1 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) ATTTGCAAAAGGACAGTTTCA 0.463000 11 14 0 0 1 0 0 GABRA5 2558 broad.mit.edu 37 15 27128356 27128356 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr15:27128356C>T ENST00000335625.5 + 5 1140 c.252C>T c.(250-252)ttC>ttT p.F84F GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000400081.3_Silent_p.F84F|GABRA5_ENST00000355395.5_Silent_p.F84F|GABRB3_ENST00000541819.2_Intron NM_000810.3 NP_000801.1 P31644 GBRA5_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 5 84 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.F84F(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1) 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TCACCAGCTTCGGCCCGGTGT 0.662000 34 7 0 0 1 0 0 KRT6A 3853 broad.mit.edu 37 12 52884422 52884422 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:52884422C>T ENST00000330722.6 - 5 1076 c.1008G>A c.(1006-1008)gaG>gaA p.E336E NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A 336 Coil 2.|Rod. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) GGGCCTTGACCTCAGCGATGA 0.577000 27 103 0 0 1 0 0 KCNJ8 3764 broad.mit.edu 37 12 21919174 21919174 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:21919174G>A ENST00000240662.2 - 3 1103 c.758C>T c.(757-759)cCa>cTa p.P253L RP11-59N23.1_ENST00000542489.1_RNA NM_004982.3 NP_004973.1 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel, subfamily J, member 8 253 voltage-gated potassium channel complex cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 Levosimendan(DB00922) GCTCTCGATTGGGTTATCAAC 0.493000 10 17 0 0 1 0 0 TRIM72 493829 broad.mit.edu 37 16 31230802 31230802 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:31230802G>A ENST00000322122.3 + 4 963 c.679G>A c.(679-681)Gag>Aag p.E227K NM_001008274.3 NP_001008275.2 Q6ZMU5 TRI72_HUMAN tripartite motif containing 72 227 exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization cytoplasmic vesicle membrane|sarcolemma phosphatidylserine binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1) 15 GAAGGTCCTGGAGGAGGTGGC 0.667000 20 33 0 0 1 0 0 ZNF577 84765 broad.mit.edu 37 19 52375986 52375986 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:52375986G>A ENST00000420592.1 - 6 2413 c.1080C>T c.(1078-1080)tcC>tcT p.S360S ZNF577_ENST00000451628.2_Silent_p.S360S|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000301399.5_Silent_p.S419S|ZNF577_ENST00000485702.1_Intron Q9BSK1 ZN577_HUMAN zinc finger protein 577 419 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) GGGTTCCTGAGGAAGGCATTT 0.443000 29 18 0 0 1 0 0 TDGF1 6997 broad.mit.edu 37 3 46621264 46621264 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:46621264G>A ENST00000296145.5 + 4 992 c.259G>A c.(259-261)Gga>Aga p.G87R LRRC2_ENST00000296144.3_Intron|TDGF1_ENST00000542931.1_Missense_Mutation_p.G71R NM_003212.3 NP_003203.1 P13385 TDGF1_HUMAN teratocarcinoma-derived growth factor 1 87 EGF-like. activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation anchored to membrane|cell surface|extrinsic to plasma membrane growth factor activity cervix(2)|endometrium(1)|kidney(1)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) CCTGAATGGGGGAACCTGCAT 0.532000 31 62 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179612364 179612364 + Silent SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:179612364T>C ENST00000360870.5 - 46 14985 c.14763A>G c.(14761-14763)aaA>aaG p.K4921K TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 1048 Ig-like 29. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTCTGGTGTCTTTAGTTTCAG 0.433000 8 69 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124165059 124165059 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:124165059C>T ENST00000360013.3 + 20 3486 c.3359C>T c.(3358-3360)aCc>aTc p.T1120I KALRN_ENST00000240874.3_Missense_Mutation_p.T1120I|KALRN_ENST00000460856.1_Missense_Mutation_p.T1111I NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 1120 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity p.T1120I(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CATTTCTGGACCTTGAAGAAG 0.542000 6 25 0 0 1 0 0 STX11 8676 broad.mit.edu 37 6 144508385 144508385 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:144508385C>T ENST00000367568.4 + 2 804 c.621C>T c.(619-621)atC>atT p.I207I NM_003764.3 NP_003755.2 O75558 STX11_HUMAN syntaxin 11 207 t-SNARE coiled-coil homology. ARAALNEIESRHRELLRLESR -> RGPPTTRSRAATANCC AWRAA (in Ref. 2; AAC24031). cellular membrane fusion|intracellular protein transport|vesicle-mediated transport Golgi apparatus|membrane SNAP receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 12 OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492) TCAACGAGATCGAGAGCCGCC 0.642000 Familial Hemophagocytic Lymphohistiocytosis 15 39 0 0 1 0 0 MAPKAPK3 7867 broad.mit.edu 37 3 50683143 50683143 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:50683143C>T ENST00000446044.1 + 9 1227 c.631C>T c.(631-633)Cct>Tct p.P211S MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.P211S NM_001243926.1 NP_001230855.1 Q16644 MAPK3_HUMAN mitogen-activated protein kinase-activated protein kinase 3 211 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity central_nervous_system(1)|ovary(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) CCTGGCAGCCCCTGAGGTCCT 0.612000 10 22 0 0 1 0 0 C5 727 broad.mit.edu 37 9 123725027 123725027 + Missense_Mutation SNP G G C rs121909588 TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:123725027G>C ENST00000223642.1 - 36 4455 c.4426C>G c.(4426-4428)Cga>Gga p.R1476G NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 1476 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) ATCCGGAATCGTACACAAAGG 0.363000 41 52 0 0 1 0 0 PARVB 29780 broad.mit.edu 37 22 44514978 44514978 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:44514978G>A ENST00000338758.6 + 4 397 c.334G>A c.(334-336)Gag>Aag p.E112K PARVB_ENST00000406477.3_Missense_Mutation_p.E145K|PARVB_ENST00000404989.1_Missense_Mutation_p.E75K|PARVB_ENST00000402876.3_Missense_Mutation_p.E112K NM_013327.4 NP_037459.2 Q9HBI1 PARVB_HUMAN parvin, beta 112 CH 1. cell adhesion|cell junction assembly cytoskeleton|cytosol|focal adhesion actin binding p.E145*(1) NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 25 Ovarian(80;0.0246)|all_neural(38;0.0423) GAAGCAGCTGGAGGAAGACCT 0.602000 35 50 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138655765 138655765 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:138655765G>A ENST00000251691.4 + 33 5948 c.5782G>A c.(5782-5784)Gag>Aag p.E1928K NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 1928 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) CTGTATGGAGGAGCCTCCCAT 0.572000 28 21 0 0 1 0 0 CD22 933 broad.mit.edu 37 19 35835990 35835990 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:35835990G>A ENST00000085219.5 + 11 2235 c.2169G>A c.(2167-2169)gaG>gaA p.E723E CD22_ENST00000594250.1_Silent_p.E546E|CD22_ENST00000419549.2_Silent_p.E551E|CD22_ENST00000544992.2_Silent_p.E723E|CD22_ENST00000270311.6_Intron|CD22_ENST00000536635.2_Silent_p.E635E|CD22_ENST00000341773.6_Silent_p.E546E NM_001771.3 NP_001762.2 P20273 CD22_HUMAN CD22 molecule 723 cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) GGCTTCAGGAGAATTCCAGCG 0.552000 27 46 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128294275 128294275 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:128294275G>A ENST00000368227.3 - 30 4578 c.4212C>T c.(4210-4212)ttC>ttT p.F1404F PTPRK_ENST00000368215.3_Silent_p.F1386F|PTPRK_ENST00000368210.3_Silent_p.F1405F|PTPRK_ENST00000368226.4_Silent_p.F1387F|PTPRK_ENST00000368207.3_Silent_p.F1419F|PTPRK_ENST00000368213.5_Silent_p.F1393F|PTPRK_ENST00000532331.1_Silent_p.F1409F Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 1386 Tyrosine-protein phosphatase 2. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) CTATAGCACAGAACATGCCAC 0.448000 16 54 0 0 1 0 0 TEP1 7011 broad.mit.edu 37 14 20848538 20848538 + Missense_Mutation SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:20848538T>C ENST00000262715.5 - 34 4899 c.4859A>G c.(4858-4860)tAc>tGc p.Y1620C TEP1_ENST00000556935.1_Missense_Mutation_p.Y1512C|TEP1_ENST00000545983.1_5'UTR NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1620 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) GAGCCGGGGGTACTGGCTGAG 0.602000 64 27 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183676246 183676246 + Nonsense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:183676246C>T ENST00000511685.1 + 22 4849 c.4726C>T c.(4726-4728)Cga>Tga p.R1576* TENM3_ENST00000406950.2_Nonsense_Mutation_p.R1576*|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 p.R1576*(1) CATGCCAGTTCGAGTGGTGTC 0.408000 18 8 0 0 1 0 0 NRG1 3084 broad.mit.edu 37 8 32621854 32621854 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:32621854G>A ENST00000338921.4 + 13 2398 c.1881G>A c.(1879-1881)tcG>tcA p.S627S NRG1_ENST00000287842.3_Silent_p.S616S|NRG1_ENST00000287845.5_Silent_p.S590S|NRG1_ENST00000405005.2_Silent_p.S619S|NRG1_ENST00000519301.1_Silent_p.S569S|NRG1_ENST00000539990.1_Silent_p.S462S|NRG1_ENST00000287840.5_Silent_p.S619S|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000356819.4_Silent_p.S624S Q02297 NRG1_HUMAN neuregulin 1 619 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) GCCGCTTCTCGACACAGGAAG 0.512000 21 20 0 0 1 0 0 ZSCAN30 100101467 broad.mit.edu 37 18 32844175 32844175 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr18:32844175G>A ENST00000420878.3 - 3 597 c.142C>T c.(142-144)Cgg>Tgg p.R48W ZNF397_ENST00000589420.1_Intron|ZSCAN30_ENST00000592278.1_Missense_Mutation_p.R48W|ZSCAN30_ENST00000601405.1_Intron|ZSCAN30_ENST00000333206.5_Missense_Mutation_p.R48W|ZSCAN30_ENST00000383091.2_Missense_Mutation_p.R48W|ZSCAN30_ENST00000589178.1_Missense_Mutation_p.R48W NM_001166012.1 NP_001159484.1 Q86W11 ZSC30_HUMAN zinc finger and SCAN domain containing 30 48 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(5)|lung(3)|urinary_tract(1) 9 AACTTCTGCCGGAATACCTCT 0.522000 17 21 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166210771 166210771 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:166210771G>A ENST00000357398.3 + 17 3279 c.2989G>A c.(2989-2991)Gat>Aat p.D997N SCN2A_ENST00000283256.6_Missense_Mutation_p.D997N|SCN2A_ENST00000375437.2_Missense_Mutation_p.D997N|SCN2A_ENST00000375427.2_Missense_Mutation_p.D997N Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 997 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) CACTGATGATGATAACGAAAT 0.388000 34 157 0 0 1 0 0 OR13G1 441933 broad.mit.edu 37 1 247835887 247835887 + Missense_Mutation SNP A A C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:247835887A>C ENST00000359688.2 - 1 478 c.457T>G c.(457-459)Tcc>Gcc p.S153A RP11-634B7.4_ENST00000449298.1_RNA NM_001005487.1 NP_001005487.1 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, member 1 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-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) OV - Ovarian serous cystadenocarcinoma(106;0.017) TGCACCCAGGAATTGGTGACT 0.468000 14 65 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1261735 1261735 + Missense_Mutation SNP T T G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:1261735T>G ENST00000348261.5 + 24 4744 c.4496T>G c.(4495-4497)gTg>gGg p.V1499G CACNA1H_ENST00000565831.1_Missense_Mutation_p.V1499G|CACNA1H_ENST00000358590.4_Missense_Mutation_p.V1499G NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 1499 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) TCGCTGTTCGTGCTGTCATCC 0.657000 23 43 0 0 1 0 0 NAP1L4 4676 broad.mit.edu 37 11 2993357 2993357 + Missense_Mutation SNP G G T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:2993357G>T ENST00000380542.4 - 5 430 c.290C>A c.(289-291)gCg>gAg p.A97E NAP1L4_ENST00000526115.1_Missense_Mutation_p.A97E NM_005969.3 NP_005960.1 Q99733 NP1L4_HUMAN nucleosome assembly protein 1-like 4 97 nucleosome assembly chromatin assembly complex|cytoplasm unfolded protein binding endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1) 13 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211) CTGGTATAGCGCTGCATACTT 0.383000 30 35 5.91797e-21 6.02214e-21 1 1 0 IGHV2-5 28457 broad.mit.edu 37 14 106494423 106494423 + RNA SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:106494423C>T ENST00000390597.2 - 0 88 CAGACTCCTTCAAGGTGATCT 0.532000 8 24 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195498576 195498576 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:195498576G>A ENST00000463781.3 - 5 13648 c.13189C>T c.(13189-13191)Ccg>Tcg p.P4397S MUC4_ENST00000346145.4_Missense_Mutation_p.P161S|MUC4_ENST00000475231.1_Missense_Mutation_p.P4397S|MUC4_ENST00000349607.4_Missense_Mutation_p.P110S NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1154 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TCCCAGAACGGAGCCACCAGG 0.587000 7 28 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20738086 20738086 + Nonsense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:20738086G>A ENST00000404938.2 + 17 2719 c.2067G>A c.(2065-2067)tgG>tgA p.W689* ABCB5_ENST00000258738.6_Nonsense_Mutation_p.W244* NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 244 ABC transporter 2. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 AGCCTGAATGGCCTTTTGTGG 0.318000 28 25 0 0 1 0 0 DUXA 503835 broad.mit.edu 37 19 57666634 57666634 + Splice_Site SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:57666634C>T ENST00000554048.2 - 5 544 c.e5+1 NM_001012729.1 NP_001012747.1 A6NLW8 DUXA_HUMAN double homeobox A nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 17 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123) AGGCTAGTTACCTTGCAGTCC 0.512000 7 18 0 0 1 0 0 UGT2B15 7366 broad.mit.edu 37 4 69535767 69535767 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:69535767G>A ENST00000338206.5 - 1 579 c.570C>T c.(568-570)ttC>ttT p.F190F NM_001076.3 NP_001067.2 P54855 UDB15_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B15 190 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity AGGAAGGAGGGAACAGAAATC 0.363000 39 88 0 0 1 0 0 DNAH12 201625 broad.mit.edu 37 3 57494134 57494134 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:57494134C>T ENST00000351747.2 - 7 856 c.676G>A c.(676-678)Gtt>Att p.V226I DNAH12_ENST00000389536.4_Missense_Mutation_p.V226I|DNAH12_ENST00000311202.6_Missense_Mutation_p.V226I NM_178504.4 NP_848599.3 Q6ZR08 DYH12_HUMAN dynein, axonemal, heavy chain 12 226 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1) 25 TCCAACAAAACTGTATCAGCA 0.303000 8 24 0 0 1 0 0 PIP 5304 broad.mit.edu 37 7 142832372 142832372 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:142832372G>A ENST00000291009.3 + 2 221 c.181G>A c.(181-183)Gaa>Aaa p.E61K NM_002652.2 NP_002643.1 P12273 PIP_HUMAN prolactin-induced protein 61 extracellular region actin binding p.E61*(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 18 Melanoma(164;0.059) Ovarian(593;2.82e-05)|Breast(660;0.012) BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08) AGTTCAAACAGAATTGAAAGA 0.378000 8 18 0 0 1 0 0 PCDHA13 56136 broad.mit.edu 37 5 140262444 140262444 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:140262444G>A ENST00000289272.2 + 1 591 c.591G>A c.(589-591)agG>agA p.R197R PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.R197R|PCDHA8_ENST00000531613.1_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGTACTGAGGAAAACACTGG 0.443000 25 12 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14537894 14537894 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr18:14537894C>T ENST00000358970.5 - 3 715 c.716G>A c.(715-717)gGa>gAa p.G239E POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 239 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AGTGGTATTTCCATACTCATC 0.383000 14 47 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126411726 126411726 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:126411726C>T ENST00000394329.3 + 17 13762 c.13749C>T c.(13747-13749)atC>atT p.I4583I FAT4_ENST00000335110.5_Silent_p.I2824I NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4583 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AACCAGATATCATTGAAAGGG 0.478000 29 21 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179391822 179391822 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:179391822C>T ENST00000589042.1 - 363 108117 c.107893G>A c.(107893-107895)Gat>Aat p.D35965N TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D26900N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D27092N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D27025N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D34324N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D33397N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 34324 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGTCCACCATCTTGTTTCTGT 0.438000 22 19 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13911546 13911546 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:13911546C>T ENST00000265104.4 - 12 1697 c.1593G>A c.(1591-1593)atG>atA p.M531I NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 531 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.M531I(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GGTCAAAATCCATTTTCCGCT 0.318000 Kartagener syndrome 54 12 0 0 1 0 0 SATL1 340562 broad.mit.edu 37 X 84363957 84363957 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:84363957C>T ENST00000509231.1 - 1 97 c.18G>A c.(16-18)acG>acA p.T6T SATL1_ENST00000395409.3_5'UTR|SATL1_ENST00000332921.5_5'UTR Q86VE3 SATL1_HUMAN spermidine/spermine N1-acetyl transferase-like 1 61 N-acetyltransferase activity NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1) 29 TTGATTGGTTCGTGCCTGATT 0.478000 OREG0019887 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 2 0 0 1 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24254782 24254782 + Splice_Site SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:24254782G>A ENST00000538205.1 + 7 750 c.e7-1 ADAMDEC1_ENST00000256412.4_Splice_Site|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Splice_Site NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) ATATCTCCCAGAGGATACTTC 0.418000 23 36 0 0 1 0 0 RGS22 26166 broad.mit.edu 37 8 101092508 101092508 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:101092508C>T ENST00000360863.6 - 4 387 c.193G>A c.(193-195)Gaa>Aaa p.E65K RGS22_ENST00000523437.1_Missense_Mutation_p.E65K|RGS22_ENST00000523287.1_5'UTR NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 65 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) AGTTGTTTTTCCAGAAATTGT 0.323000 14 20 0 0 1 0 0 MAGEC3 139081 broad.mit.edu 37 X 140983188 140983188 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:140983188C>T ENST00000298296.1 + 5 1043 c.1043C>T c.(1042-1044)cCt>cTt p.P348L MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000544766.1_5'UTR|MAGEC3_ENST00000448920.1_Missense_Mutation_p.P100L NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 348 MAGE 1. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) CTGGCCAATCCTCAAGGTAAG 0.577000 44 15 0 0 1 0 0 FBLN7 129804 broad.mit.edu 37 2 112945098 112945098 + Missense_Mutation SNP A A T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:112945098A>T ENST00000409903.1 + 8 1312 c.1082A>T c.(1081-1083)cAc>cTc p.H361L FBLN7_ENST00000331203.2_3'UTR|FBLN7_ENST00000409450.3_3'UTR|FBLN7_ENST00000409667.3_3'UTR Q53RD9 FBLN7_HUMAN fibulin 7 0 cell adhesion proteinaceous extracellular matrix calcium ion binding|heparin binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 ACACAGGGGCACTGGGGTGTG 0.602000 21 122 0 0 1 0 0 ZNF670 93474 broad.mit.edu 37 1 247201497 247201497 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:247201497G>A ENST00000366503.2 - 4 582 c.424C>T c.(424-426)Cat>Tat p.H142Y NM_001204220.1|NM_033213.4 NP_001191149.1|NP_149990.1 Q9BS34 ZN670_HUMAN zinc finger protein 670 142 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 17 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00427) TGTTTGCAATGATATAACTTC 0.413000 14 149 0 0 1 0 0 PADI3 51702 broad.mit.edu 37 1 17593285 17593285 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:17593285C>T ENST00000375460.3 + 5 520 c.480C>T c.(478-480)agC>agT p.S160S NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 160 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) ATGATCCGAGCTGTGATGTCC 0.597000 105 32 0 0 1 0 0 TTBK1 84630 broad.mit.edu 37 6 43227287 43227287 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:43227287G>A ENST00000259750.4 + 12 1350 c.1267G>A c.(1267-1269)Gaa>Aaa p.E423K TTBK1_ENST00000304139.5_Missense_Mutation_p.E372K NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 423 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) TGTGGAGGAGGAACAGAGCCG 0.667000 20 8 0 0 1 0 0 ECH1 1891 broad.mit.edu 37 19 39308180 39308180 + Nonsense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:39308180G>A ENST00000221418.4 - 4 617 c.385C>T c.(385-387)Cag>Tag p.Q129* AC104534.3_ENST00000594769.1_Silent_p.C298C NM_001398.2 NP_001389.2 enoyl CoA hydratase 1, peroxisomal cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 6 all_cancers(60;9.36e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) CCTTTGGGCTGCAGGATGTCC 0.562000 13 8 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 80271462 80271462 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:80271462C>T ENST00000281127.7 + 5 1796 c.917C>T c.(916-918)tCa>tTa p.S306L NRXN3_ENST00000557594.1_Missense_Mutation_p.S306L|NRXN3_ENST00000428277.2_Missense_Mutation_p.S336L|NRXN3_ENST00000335750.5_Missense_Mutation_p.S938L|NRXN3_ENST00000554719.1_Missense_Mutation_p.S938L|NRXN3_ENST00000556003.1_Intron NM_138970.3 NP_620426.2 Q9HDB5 NRX3B_HUMAN neurexin 3 306 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) CAGCCAACATCAGATGATCTT 0.388000 19 65 0 0 1 0 0 GAP43 2596 broad.mit.edu 37 3 115395199 115395199 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:115395199G>A ENST00000393780.3 + 3 946 c.478G>A c.(478-480)Gcc>Acc p.A160T GAP43_ENST00000305124.6_Missense_Mutation_p.A124T NM_001130064.1 NP_001123536.1 P17677 NEUM_HUMAN growth associated protein 43 124 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding cell junction|filopodium membrane|growth cone membrane|synapse calmodulin binding endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 32 GBM - Glioblastoma multiforme(114;0.164) AGAGCAGGCAGCCCCCCAGGC 0.607000 18 11 0 0 1 0 0 FMO1 2326 broad.mit.edu 37 1 171249965 171249965 + Missense_Mutation SNP G G A rs16864310 TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:171249965G>A ENST00000354841.4 + 5 799 c.668G>A c.(667-669)cGa>cAa p.R223Q FMO1_ENST00000402921.2_Missense_Mutation_p.R160Q|FMO1_ENST00000367750.3_Missense_Mutation_p.R223Q|FMO1_ENST00000469112.1_3'UTR Q01740 FMO1_HUMAN flavin containing monooxygenase 1 223 R -> Q (in dbSNP:rs16864310). NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GTGATCAGCCGAATCTTTGAC 0.517000 7 65 0 0 1 0 0 HK2 3099 broad.mit.edu 37 2 75100492 75100492 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:75100492G>A ENST00000290573.2 + 5 1185 c.585G>A c.(583-585)agG>agA p.R195R HK2_ENST00000409174.1_Silent_p.R167R NM_000189.4 NP_000180.2 P52789 HXK2_HUMAN hexokinase 2 195 Regulatory. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 43 CCATCCAGAGGAGAGGGGTGA 0.557000 7 55 0 0 1 0 0 BEST2 54831 broad.mit.edu 37 19 12868835 12868835 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:12868835C>T ENST00000549706.1 + 10 1798 c.1474C>T c.(1474-1476)Ccg>Tcg p.P492S BEST2_ENST00000553030.1_Missense_Mutation_p.P492S|BEST2_ENST00000042931.1_Missense_Mutation_p.P492S Q8NFU1 BEST2_HUMAN bestrophin 2 492 membrane depolarization|sensory perception of smell chloride channel complex|cilium|plasma membrane chloride channel activity breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1) 12 GCCCCGGGGTCCGGCGCCACC 0.697000 15 16 0 0 1 0 0 CYP4F3 4051 broad.mit.edu 37 19 15752390 15752390 + Silent SNP G G A rs150573744 byFrequency TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:15752390G>A ENST00000221307.7 + 2 213 c.165G>A c.(163-165)ccG>ccA p.P55P CYP4F3_ENST00000586182.1_Silent_p.P55P|CYP4F3_ENST00000591058.1_Silent_p.P55P|CYP4F3_ENST00000585846.1_Silent_p.P55P NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 55 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 CGCAACCCCCGAAACGGAATT 0.617000 61 32 0 0 1 0 0 ALDOC 230 broad.mit.edu 37 17 26900845 26900845 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:26900845C>T ENST00000226253.4 - 8 1382 c.907G>A c.(907-909)Ggg>Agg p.G303R ALDOC_ENST00000395321.2_Missense_Mutation_p.G303R|RP11-192H23.5_ENST00000585189.1_RNA|ALDOC_ENST00000395319.3_Missense_Mutation_p.G275R NM_005165.2 NP_005156.1 P09972 ALDOC_HUMAN aldolase C, fructose-bisphosphate 303 fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis cytosol cytoskeletal protein binding|fructose-bisphosphate aldolase activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 11 Lung NSC(42;0.00431) AGGGCACGCCCATAGGAGAAG 0.612000 79 19 0 0 1 0 0 KLK7 5650 broad.mit.edu 37 19 51483547 51483547 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:51483547G>A ENST00000391807.1 - 4 519 c.418C>T c.(418-420)Cct>Tct p.P140S KLK7_ENST00000336317.4_Missense_Mutation_p.P27S|KLK7_ENST00000597707.1_Missense_Mutation_p.P68S|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000595820.1_Missense_Mutation_p.P140S NM_139277.2 NP_644806.1 P49862 KLK7_HUMAN kallikrein-related peptidase 7 140 Peptidase S1. epidermis development|proteolysis extracellular region serine-type endopeptidase activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2) 19 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895) GTGGTTCCAGGGGGTTCGCAG 0.612000 21 24 0 0 1 0 0 NEURL2 140825 broad.mit.edu 37 20 44519263 44519263 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:44519263G>A ENST00000372518.4 - 1 663 c.368C>T c.(367-369)cCc>cTc p.P123L NM_001278535.1|NM_080749.2 NP_001265464.1|NP_542787.1 Q9BR09 NEUL2_HUMAN neuralized E3 ubiquitin protein ligase 2 123 NHR. intracellular signal transduction large_intestine(1)|lung(2) 3 Myeloproliferative disorder(115;0.0122) GCCCTCCCGGGGCACGCGGTT 0.687000 13 53 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11023012 11023012 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:11023012C>T ENST00000304623.8 - 17 3057 c.2868G>A c.(2866-2868)tcG>tcA p.S956S CTNND2_ENST00000458100.2_Silent_p.S523S|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Silent_p.S898S|CTNND2_ENST00000503622.1_Silent_p.S619S|CTNND2_ENST00000511377.1_Silent_p.S865S NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 956 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding p.S956S(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 CTGTGTCATCCGACATGGCCT 0.517000 57 11 0 0 1 0 0 BCS1L 617 broad.mit.edu 37 2 219525985 219525985 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:219525985C>T ENST00000431802.1 + 2 974 c.275C>T c.(274-276)tCc>tTc p.S92F BCS1L_ENST00000392110.2_Missense_Mutation_p.S92F|BCS1L_ENST00000412366.1_Missense_Mutation_p.S92F|BCS1L_ENST00000392109.1_Missense_Mutation_p.S92F|BCS1L_ENST00000392111.2_Missense_Mutation_p.S92F|BCS1L_ENST00000359273.3_Missense_Mutation_p.S92F|BCS1L_ENST00000439945.1_Missense_Mutation_p.S92F Q9Y276 BCS1_HUMAN BC1 (ubiquinol-cytochrome c reductase) synthesis-like 92 mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly integral to membrane|mitochondrial respiratory chain complex III ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 8 Renal(207;0.0474) Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGCCGCATTTCCACTAAGTTT 0.527000 31 120 0 0 1 0 0 PCDHA4 56144 broad.mit.edu 37 5 140188692 140188692 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:140188692G>A ENST00000530339.1 + 1 1920 c.1920G>A c.(1918-1920)acG>acA p.T640T PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.T640T|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Silent_p.T640T|PCDHA1_ENST00000394633.3_Intron NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGACGAAACGGACGCTCCGC 0.672000 64 22 0 0 1 0 0 FAM189A2 9413 broad.mit.edu 37 9 72006631 72006631 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:72006631G>A ENST00000257515.8 + 11 1684 c.1264G>A c.(1264-1266)Ggg>Agg p.G422R FAM189A2_ENST00000303068.7_Missense_Mutation_p.G257R|FAM189A2_ENST00000455972.1_Missense_Mutation_p.G422R|FAM189A2_ENST00000377216.3_Missense_Mutation_p.G209R NM_004816.3 NP_004807.3 Q15884 F1892_HUMAN family with sequence similarity 189, member A2 422 integral to membrane endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 12 CACACCAGCGGGGAGGCCCCG 0.677000 33 13 0 0 1 0 0 BMP2 650 broad.mit.edu 37 20 6759178 6759178 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:6759178C>T ENST00000378827.4 + 3 1852 c.633C>T c.(631-633)ccC>ccT p.P211P NM_001200.2 NP_001191.1 P12643 BMP2_HUMAN bone morphogenetic protein 2 211 BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1) 13 Simvastatin(DB00641) ATGTCACCCCCGCTGTGATGC 0.527000 33 16 0 0 1 0 0 OR52N2 390077 broad.mit.edu 37 11 5842147 5842147 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:5842147C>T ENST00000317037.2 + 1 604 c.582C>T c.(580-582)ttC>ttT p.F194F TRIM5_ENST00000380027.1_Intron NM_001005174.1 NP_001005174.1 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, member 2 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1) 32 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTGGCAATTTCAAGGTCAATG 0.473000 102 65 0 0 1 0 0 XKR7 343702 broad.mit.edu 37 20 30584504 30584504 + Silent SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:30584504T>C ENST00000217299.3 + 3 1158 c.984T>C c.(982-984)ttT>ttC p.F328F NM_001011718.1 NP_001011718.1 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related family, member 7 328 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) AGCTCTATTTTGGCATCTTCA 0.592000 23 56 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52321411 52321411 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:52321411G>A ENST00000356297.4 - 17 2873 c.2773C>T c.(2773-2775)Cct>Tct p.P925S PXDNL_ENST00000543296.1_Missense_Mutation_p.P925S NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 925 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GGAGGCCAAGGAAAGCCTGTC 0.627000 10 22 0 0 1 0 0 PMEPA1 56937 broad.mit.edu 37 20 56228099 56228099 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:56228099C>T ENST00000341744.3 - 3 627 c.308G>A c.(307-309)gGa>gAa p.G103E PMEPA1_ENST00000347215.4_Missense_Mutation_p.G68E|PMEPA1_ENST00000395816.3_Missense_Mutation_p.G53E|PMEPA1_ENST00000395814.1_Missense_Mutation_p.G53E|PMEPA1_ENST00000265626.4_Missense_Mutation_p.G53E NM_020182.4 NP_064567.2 Q969W9 PMEPA_HUMAN prostate transmembrane protein, androgen induced 1 103 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 CTCTGGGATTCCGTTGCCTGA 0.632000 4 8 0 0 1 0 0 OR10R2 343406 broad.mit.edu 37 1 158450225 158450225 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:158450225C>T ENST00000368152.1 + 1 558 c.558C>T c.(556-558)ctC>ctT p.L186L RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA NM_001004472.1 NP_001004472.1 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, member 2 186 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) TTTTCAGCCTCCCTTTTTGTA 0.438000 51 135 0 0 1 0 0 OR4C16 219428 broad.mit.edu 37 11 55339780 55339780 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:55339780C>T ENST00000314634.3 + 1 177 c.177C>T c.(175-177)ttC>ttT p.F59F NM_001004701.2 NP_001004701.2 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) CAATGTTCTTCTTCCTTTTCT 0.388000 46 49 0 0 1 0 0 METAP1D 254042 broad.mit.edu 37 2 172944869 172944869 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:172944869G>A ENST00000315796.4 + 9 1251 c.864G>A c.(862-864)acG>acA p.T288T METAP1D_ENST00000488581.1_3'UTR NM_199227.1 NP_954697.1 Q6UB28 AMP1D_HUMAN methionyl aminopeptidase type 1D (mitochondrial) 288 N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis mitochondrion aminopeptidase activity|metal ion binding|metalloexopeptidase activity NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1) 8 CAATCATCACGGAGGGATCCC 0.393000 53 22 0 0 1 0 0 FCHO1 23149 broad.mit.edu 37 19 17892535 17892535 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:17892535C>T ENST00000594202.1 + 23 2122 c.1843C>T c.(1843-1845)Ccg>Tcg p.P615S FCHO1_ENST00000595033.1_Missense_Mutation_p.P565S|FCHO1_ENST00000252771.7_Missense_Mutation_p.P615S|FCHO1_ENST00000597512.1_Missense_Mutation_p.P622S|FCHO1_ENST00000389133.4_Missense_Mutation_p.P615S|FCHO1_ENST00000596536.1_Missense_Mutation_p.P615S|FCHO1_ENST00000539407.1_Missense_Mutation_p.P615S|FCHO1_ENST00000596951.1_Missense_Mutation_p.P615S|FCHO1_ENST00000600676.1_Missense_Mutation_p.P615S NM_001161357.1 NP_001154829.1 O14526 FCHO1_HUMAN FCH domain only 1 615 NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 CTCCCGGGGTCCGAGCCCTGT 0.632000 52 57 0 0 1 0 0 MAN1C1 57134 broad.mit.edu 37 1 26013026 26013026 + Splice_Site SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:26013026C>T ENST00000374332.4 + 2 966 c.637_splice c.e2+1 p.F212_splice MAN1C1_ENST00000263979.3_Splice_Site_p.F32_splice|MAN1C1_ENST00000473891.1_3'UTR NM_020379.2 NP_065112.1 Q9NR34 MA1C1_HUMAN mannosidase, alpha, class 1C, member 1 212 post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232) UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803) GTAACATGTTCGGTGAGTCGA 0.498000 76 26 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109577350 109577350 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:109577350C>T ENST00000338432.7 + 2 259 c.140C>T c.(139-141)cCc>cTc p.P47L ACACB_ENST00000377854.5_Missense_Mutation_p.P47L|ACACB_ENST00000377848.3_Missense_Mutation_p.P47L O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 47 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) AGCCAGGAGCCCTTTCCAGCC 0.552000 21 49 0 0 1 0 0 SREBF2 6721 broad.mit.edu 37 22 42274097 42274097 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:42274097C>T ENST00000361204.4 + 9 1897 c.1731C>T c.(1729-1731)caC>caT p.H577H NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 577 cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 TCTGGAGGCACCGGAAACAGG 0.552000 35 49 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37442557 37442557 + Nonsense_Mutation SNP A A T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:37442557A>T ENST00000374660.1 + 13 1696 c.1597A>T c.(1597-1599)Aaa>Taa p.K533* ANKRD30A_ENST00000602533.1_Nonsense_Mutation_p.K533*|ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.K533* Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 589 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TACACATCAAAAAGAAATAGA 0.308000 39 52 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117665378 117665378 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:117665378G>A ENST00000317775.6 - 23 4159 c.3474C>T c.(3472-3474)ttC>ttT p.F1158F NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.F1192F NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 1158 FAD-binding FR-type. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GGATAGATGGGAACTCCTCCA 0.582000 21 56 0 0 1 0 0 ZHX3 23051 broad.mit.edu 37 20 39833197 39833197 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:39833197G>A ENST00000309060.3 - 4 775 c.360C>T c.(358-360)acC>acT p.T120T ZHX3_ENST00000557816.1_Silent_p.T120T|ZHX3_ENST00000540170.1_Silent_p.T120T|ZHX3_ENST00000559234.1_Silent_p.T120T|ZHX3_ENST00000432768.2_Silent_p.T120T|ZHX3_ENST00000560361.1_Silent_p.T120T|ZHX3_ENST00000558993.1_Silent_p.T120T|ZHX3_ENST00000544979.2_Silent_p.T120T Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 120 negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) GCCCCTCAGGGGTTTTTGCCA 0.493000 47 100 0 0 1 0 0 FAM71E1 112703 broad.mit.edu 37 19 50979490 50979490 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:50979490G>A ENST00000600100.1 - 1 520 c.156C>T c.(154-156)ctC>ctT p.L52L FAM71E1_ENST00000595790.1_Silent_p.L52L Q6IPT2 F71E1_HUMAN family with sequence similarity 71, member E1 52 breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026) GCGGACGGAGGAGCAGAGGGA 0.652000 13 45 0 0 1 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37734744 37734744 + Nonsense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:37734744G>A ENST00000330843.4 - 2 709 c.697C>T c.(697-699)Cag>Tag p.Q233* RAB11FIP1_ENST00000524118.1_Nonsense_Mutation_p.Q85*|RAB11FIP1_ENST00000522727.1_Nonsense_Mutation_p.Q85*|RAB11FIP1_ENST00000287263.4_Nonsense_Mutation_p.Q233* NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 233 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) GACATGGACTGGGAAAGAGGC 0.458000 54 81 0 0 1 0 0 LEPREL1 55214 broad.mit.edu 37 3 189691793 189691793 + Splice_Site SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:189691793C>T ENST00000319332.5 - 10 1650 c.1452_splice c.e10-1 p.G485_splice LEPREL1_ENST00000427335.2_Splice_Site_p.G304_splice NM_018192.3 NP_060662.2 Q8IVL5 P3H2_HUMAN leprecan-like 1 485 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) AGCATGATTCCCTGGAAGCAA 0.403000 40 28 0 0 1 0 0 NFE2 4778 broad.mit.edu 37 12 54686207 54686207 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:54686207C>T ENST00000540264.2 - 2 1582 c.1073G>A c.(1072-1074)gGg>gAg p.G358E RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000435572.2_Missense_Mutation_p.G358E|NFE2_ENST00000553070.1_Missense_Mutation_p.G358E|NFE2_ENST00000312156.4_Missense_Mutation_p.G358E Q16621 NFE2_HUMAN nuclear factor, erythroid 2 358 blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter actin cytoskeleton|cytoplasm|PML body protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2) 16 GAAGATGGTCCCATCGGCAGC 0.572000 25 26 0 0 1 0 0 TBC1D9 23158 broad.mit.edu 37 4 141578867 141578867 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:141578867G>A ENST00000442267.2 - 12 2095 c.2021C>T c.(2020-2022)tCc>tTc p.S674F NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 674 Rab-GAP TBC. intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) CCAAGACAGGGAGATGGTGGA 0.483000 50 40 0 0 1 0 0 WBP4 11193 broad.mit.edu 37 13 41650276 41650276 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr13:41650276C>T ENST00000379487.3 + 8 1059 c.659C>T c.(658-660)tCc>tTc p.S220F WBP4_ENST00000542082.1_Missense_Mutation_p.S199F NM_007187.3 NP_009118.1 O75554 WBP4_HUMAN WW domain binding protein 4 220 nuclear mRNA cis splicing, via spliceosome nuclear speck|spliceosomal complex nucleic acid binding|proline-rich region binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1) 12 Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07) CTAGATGAATCCAAATCATCA 0.418000 14 22 0 0 1 0 0 BCAS4 55653 broad.mit.edu 37 20 49434750 49434750 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:49434750G>A ENST00000358791.5 + 2 283 c.183G>A c.(181-183)gcG>gcA p.A61A BCAS4_ENST00000371608.2_Silent_p.A61A|BCAS4_ENST00000262591.5_Silent_p.A61A|BCAS4_ENST00000485049.1_3'UTR NM_017843.3 NP_060313.3 Q8TDM0 BCAS4_HUMAN breast carcinoma amplified sequence 4 61 Breakpoint for translocation to form BCAS4-BCAS3. cytoplasm large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1) 6 TTTTTCAGGCGAAGGAGGTGG 0.488000 OREG0026033 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 12 0 0 1 0 0 CDC7 8317 broad.mit.edu 37 1 91977196 91977196 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:91977196G>A ENST00000428239.1 + 5 637 c.378G>A c.(376-378)aaG>aaA p.K126K CDC7_ENST00000430031.2_Silent_p.K98K|CDC7_ENST00000234626.6_Silent_p.K126K NM_001134420.1 NP_001127892.1 O00311 CDC7_HUMAN cell division cycle 7 126 Protein kinase. cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase cytoplasm|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2) 23 all_lung(203;0.0165)|Lung NSC(277;0.0562) all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124) GCTTTAGGAAGAATGATCATG 0.338000 94 36 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56382202 56382202 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:56382202C>T ENST00000301295.6 + 7 2786 c.2364C>T c.(2362-2364)ttC>ttT p.F788F NLRP4_ENST00000587891.1_Silent_p.F713F|NLRP4_ENST00000346986.5_Silent_p.F732F NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 788 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GGTTGGCTTTCTGCCACCTCA 0.483000 19 25 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11097537 11097537 + RNA SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr21:11097537G>A ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 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) caacaagaacgaaactcACAG 0.557000 8 30 0 0 1 0 0 ITPA 3704 broad.mit.edu 37 20 3202489 3202489 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:3202489C>T ENST00000380113.3 + 7 606 c.414C>T c.(412-414)ggC>ggT p.G138G ITPA_ENST00000455664.1_Silent_p.G121G|ITPA_ENST00000483354.1_3'UTR|ITPA_ENST00000399838.3_Silent_p.G97G NM_033453.3 NP_258412.1 Q9BY32 ITPA_HUMAN inosine triphosphatase (nucleoside triphosphate pyrophosphatase) 138 nucleotide metabolic process cytoplasm metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1) 6 TGTGGCAGGGCCGGATCGTGG 0.577000 29 31 0 0 1 0 0 LGR5 8549 broad.mit.edu 37 12 71977544 71977544 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:71977544C>T ENST00000266674.5 + 18 2065 c.1754C>T c.(1753-1755)tCc>tTc p.S585F LGR5_ENST00000536515.1_Missense_Mutation_p.S513F|RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000540815.2_Missense_Mutation_p.S561F O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 585 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 GTTTTCAGATCCCCTCTGTAC 0.502000 28 57 0 0 1 0 0 SEL1L3 23231 broad.mit.edu 37 4 25760646 25760646 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:25760646G>A ENST00000399878.3 - 21 3122 c.3000C>T c.(2998-3000)atC>atT p.I1000I SEL1L3_ENST00000264868.5_Silent_p.I965I|SEL1L3_ENST00000502949.1_Silent_p.I847I NM_015187.3 NP_056002.2 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) 1000 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 TATGGTGTGGGATTATCGTAC 0.408000 32 22 0 0 1 0 0 UNC5CL 222643 broad.mit.edu 37 6 41002663 41002663 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:41002663C>T ENST00000244565.3 - 2 239 c.151G>A c.(151-153)Gaa>Aaa p.E51K UNC5CL_ENST00000373164.1_Missense_Mutation_p.E51K NM_173561.2 NP_775832.2 Q8IV45 UN5CL_HUMAN unc-5 homolog C (C. elegans)-like 51 signal transduction cytoplasm|integral to membrane endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 13 Ovarian(28;0.0418)|Colorectal(47;0.196) GACACTGGTTCCTCTTGACCA 0.592000 13 72 0 0 1 0 0 SETD1A 9739 broad.mit.edu 37 16 30978285 30978285 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:30978285C>T ENST00000262519.8 + 9 3272 c.2586C>T c.(2584-2586)tcC>tcT p.S862S NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 862 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 GCCTGCTGTCCCTCGTGGACT 0.627000 4 6 0 0 1 0 0 RGL1 23179 broad.mit.edu 37 1 183857636 183857636 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:183857636C>T ENST00000304685.3 + 9 1546 c.1085C>T c.(1084-1086)tCc>tTc p.S362F RGL1_ENST00000367531.1_Missense_Mutation_p.S362F|RGL1_ENST00000536277.1_Missense_Mutation_p.S325F|RGL1_ENST00000360851.3_Missense_Mutation_p.S327F|RGL1_ENST00000539189.1_Missense_Mutation_p.S327F NM_015149.3 NP_055964.3 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation stimulator-like 1 327 Ras-GEF. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 AATTTTTCCTCCTTGAGGGCC 0.428000 26 172 0 0 1 0 0 SLC4A7 9497 broad.mit.edu 37 3 27444630 27444630 + Splice_Site SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:27444630G>A ENST00000295736.5 - 15 2364 c.2294_splice c.e15+1 p.S765_splice SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000455077.1_Splice_Site_p.S646_splice|SLC4A7_ENST00000454389.1_Splice_Site_p.S774_splice|SLC4A7_ENST00000446700.1_Splice_Site_p.S757_splice|SLC4A7_ENST00000440156.1_Splice_Site_p.S761_splice|SLC4A7_ENST00000388777.4_Splice_Site_p.S315_splice|SLC4A7_ENST00000428386.1_Splice_Site_p.S641_splice|SLC4A7_ENST00000437179.1_Splice_Site_p.S646_splice|SLC4A7_ENST00000445684.1_Splice_Site_p.S761_splice|SLC4A7_ENST00000435667.2_Splice_Site_p.S650_splice NM_003615.4 NP_003606.3 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 7 765 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 AAATACTTACGAGTAGCTGGT 0.338000 14 36 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183675553 183675553 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:183675553C>T ENST00000511685.1 + 22 4156 c.4033C>T c.(4033-4035)Ccc>Tcc p.P1345S TENM3_ENST00000406950.2_Missense_Mutation_p.P1345S|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 TCTGGAATGGCCCACTGACCT 0.393000 4 5 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241715317 241715317 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:241715317G>A ENST00000498729.2 - 11 1155 c.909C>T c.(907-909)ttC>ttT p.F303F KIF1A_ENST00000320389.7_Silent_p.F303F NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 303 Kinesin-motor. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) GGTACGGAATGAAATCTGTCT 0.577000 8 45 0 0 1 0 0 IQSEC2 23096 broad.mit.edu 37 X 53285072 53285072 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:53285072G>A ENST00000396435.3 - 3 1109 c.909C>T c.(907-909)gtC>gtT p.V303V IQSEC2_ENST00000375365.2_Silent_p.V98V|IQSEC2_ENST00000375368.5_Silent_p.V293V NM_001111125.2 NP_001104595.1 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 293 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1) 29 TCCTCAGGGCGACACTGGCTG 0.652000 14 1 0 0 1 0 0 OR8S1 341568 broad.mit.edu 37 12 48920005 48920005 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:48920005C>T ENST00000310194.1 + 1 591 c.591C>T c.(589-591)atC>atT p.I197I OR8S1_ENST00000551654.1_Intron NM_001005203.2 NP_001005203.2 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, member 1 197 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 GAAGCCTCATCGCCTTGCTCT 0.473000 17 31 0 0 1 0 0 LEPR 3953 broad.mit.edu 37 1 66085674 66085674 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:66085674G>A ENST00000349533.6 + 17 2644 c.2459G>A c.(2458-2460)gGa>gAa p.G820E LEPR_ENST00000371058.1_Missense_Mutation_p.G820E|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Missense_Mutation_p.G820E|LEPR_ENST00000371060.3_Missense_Mutation_p.G820E|LEPR_ENST00000344610.8_Missense_Mutation_p.G820E NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 820 Fibronectin type-III 4. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) GAAGGAGTGGGAAAACCAAAG 0.318000 32 8 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3238336 3238336 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:3238336C>T ENST00000217939.6 - 5 5544 c.5390G>A c.(5389-5391)gGa>gAa p.G1797E NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1797 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TGAGGGTGATCCCGTGGTCTG 0.498000 22 1 0 0 1 0 0 ANKRD10 55608 broad.mit.edu 37 13 111532020 111532020 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr13:111532020G>A ENST00000267339.2 - 6 1361 c.1227C>T c.(1225-1227)gcC>gcT p.A409A ANKRD10_ENST00000375758.5_3'UTR NM_017664.2 NP_060134.2 Q9NXR5 ANR10_HUMAN ankyrin repeat domain 10 409 central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3) 9 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208) TGCCCAGCACGGCACTGTCGT 0.587000 10 17 0 0 1 0 0 IPPK 64768 broad.mit.edu 37 9 95396730 95396730 + Missense_Mutation SNP A A G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:95396730A>G ENST00000287996.3 - 11 1384 c.1108T>C c.(1108-1110)Tac>Cac p.Y370H IPPK_ENST00000375522.1_Missense_Mutation_p.Y42H NM_022755.5 NP_073592.1 Q9H8X2 IPPK_HUMAN inositol 1,3,4,5,6-pentakisphosphate 2-kinase 370 inositol or phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol pentakisphosphate 2-kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1) 15 AGCTTCTGGTAAAATGCTTCA 0.453000 OREG0019315 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 39 0 0 1 0 0 EBF2 64641 broad.mit.edu 37 8 25718576 25718576 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:25718576C>T ENST00000520164.1 - 13 1868 c.1331G>A c.(1330-1332)gGa>gAa p.G444E EBF2_ENST00000408929.3_Missense_Mutation_p.G296E|EBF2_ENST00000535548.1_Missense_Mutation_p.G175E NM_022659.3 NP_073150.2 Q9HAK2 COE2_HUMAN early B-cell factor 2 444 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding p.G444E(1) endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) TTGATTATTTCCTTGTGTTGA 0.473000 39 54 0 0 1 0 0 CEP97 79598 broad.mit.edu 37 3 101476691 101476691 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:101476691C>T ENST00000341893.3 + 9 1993 c.1241C>T c.(1240-1242)cCa>cTa p.P414L CEP97_ENST00000327230.4_Missense_Mutation_p.P414L|CEP97_ENST00000494050.1_Missense_Mutation_p.P355L Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 414 CEP110 binding. centrosome|nucleus protein binding cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 GGACTGTCTCCACTATCACCT 0.478000 18 18 0 0 1 0 0 PRRC2A 7916 broad.mit.edu 37 6 31599164 31599164 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:31599164G>A ENST00000376033.2 + 16 2948 c.2714G>A c.(2713-2715)gGa>gAa p.G905E PRRC2A_ENST00000376007.4_Missense_Mutation_p.G905E NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 905 4 X 57 AA type A repeats. PARGVGSGGQ -> LPASRSGA (in Ref. 1; AAA35585/AAA35586 and 8; CAA78744). cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 CCTGCCCGCGGAGTCGGGAGT 0.657000 11 23 0 0 1 0 0 CFAP221 200373 broad.mit.edu 37 2 120373196 120373196 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:120373196G>A ENST00000602047.1 + 15 1575 c.463G>A c.(463-465)Gaa>Aaa p.E155K PCDP1_ENST00000413369.3_Missense_Mutation_p.E441K|PCDP1_ENST00000597189.1_3'UTR Q4G0U5 PCDP1_HUMAN 441 cilium calmodulin binding Colorectal(110;0.196) GAAAATCAAGGAATTTCATCC 0.343000 9 6 0 0 1 0 0 ANKRD33 341405 broad.mit.edu 37 12 52282528 52282528 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:52282528C>T ENST00000301190.6 + 2 549 c.322C>T c.(322-324)Ccc>Tcc p.P108S ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000340970.4_5'UTR|ANKRD33_ENST00000538991.1_5'UTR NM_001130015.1|NM_182608.3 NP_001123487.1|NP_872414.3 Q7Z3H0 ANR33_HUMAN ankyrin repeat domain 33 0 endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) CCACAATGATCCCACCCAGCT 0.642000 23 46 0 0 1 0 0 NELFA 7469 broad.mit.edu 37 4 1985645 1985645 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:1985645G>A ENST00000382882.3 - 9 2382 c.1265C>T c.(1264-1266)cCg>cTg p.P422L NELFA_ENST00000411638.1_Missense_Mutation_p.P411L|NELFA_ENST00000542778.1_Missense_Mutation_p.P276L NM_005663.4 NP_005654.3 negative elongation factor complex member A CATGGCAACCGGGGGTGTCTG 0.682000 24 23 0 0 1 0 0 OSBPL2 9885 broad.mit.edu 37 20 60861677 60861677 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:60861677C>T ENST00000313733.3 + 11 1237 c.1035C>T c.(1033-1035)gaC>gaT p.D345D OSBPL2_ENST00000439951.2_Silent_p.D253D|OSBPL2_ENST00000358053.2_Silent_p.D333D NM_144498.1 NP_653081.1 Q9H1P3 OSBL2_HUMAN oxysterol binding protein-like 2 345 lipid transport lipid binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) ACGTGGCTGACGACGTGCCTG 0.647000 59 127 0 0 1 0 0 CALCB 797 broad.mit.edu 37 11 15098931 15098931 + Silent SNP C C T rs145827382 byFrequency TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:15098931C>T ENST00000523376.1 + 9 1619 c.357C>T c.(355-357)ttC>ttT p.F119F CALCB_ENST00000533448.1_Silent_p.F108F|CALCB_ENST00000324229.6_Silent_p.F108F P10092 CALCB_HUMAN calcitonin-related polypeptide beta 108 cellular calcium ion homeostasis|signal transduction|vasodilation extracellular region|soluble fraction neuropeptide hormone activity p.F108F(1) endometrium(1)|large_intestine(1)|lung(1)|skin(2) 5 AGAGCAACTTCGTGCCCACCA 0.577000 10 23 0 0 1 0 0 SERPINA10 51156 broad.mit.edu 37 14 94752523 94752523 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:94752523C>T ENST00000554723.1 - 4 1603 c.1185G>A c.(1183-1185)atG>atA p.M395I SERPINA10_ENST00000554173.1_Missense_Mutation_p.M355I|SERPINA10_ENST00000393096.1_Missense_Mutation_p.M355I|SERPINA10_ENST00000261994.4_Missense_Mutation_p.M355I Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 355 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) TTCTGATTCCCATCTGCCTAA 0.428000 16 41 0 0 1 0 0 PHF14 9678 broad.mit.edu 37 7 11022696 11022696 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:11022696G>A ENST00000403050.3 + 3 1262 c.810G>A c.(808-810)aaG>aaA p.K270K PHF14_ENST00000445996.2_Intron NM_014660.3 NP_055475.2 O94880 PHF14_HUMAN PHD finger protein 14 270 zinc ion binding NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 35 UCEC - Uterine corpus endometrioid carcinoma (126;0.205) GTTGCAAGAAGAAGAAGAGTA 0.448000 6 13 0 0 1 0 0 MBL2 4153 broad.mit.edu 37 10 54530431 54530431 + Splice_Site SNP C C T rs55902142 TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:54530431C>T ENST00000373968.3 - 2 367 c.304_splice c.e2+1 p.P101_splice MBL2_ENST00000493043.1_5'UTR NM_000242.2 NP_000233.1 P11226 MBL2_HUMAN mannose-binding lectin (protein C) 2, soluble 101 acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress collagen|extracellular space bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 GGTCCTTACCCGGACTTTTTC 0.562000 59 17 0 0 1 0 0 OR2A2 442361 broad.mit.edu 37 7 143806719 143806719 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:143806719G>A ENST00000408979.2 + 1 113 c.44G>A c.(43-45)gGa>gAa p.G15E NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 15 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) ACCCTGCTGGGATTCCAGGTT 0.522000 27 32 0 0 1 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18955471 18955471 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:18955471C>T ENST00000302797.3 - 1 1085 c.861G>A c.(859-861)ctG>ctA p.L287L NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 287 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 GAACCAGCTTCAGGTTCTGCC 0.527000 9 96 0 0 1 0 0 LGR5 8549 broad.mit.edu 37 12 71946958 71946958 + Silent SNP C C T rs149369154 byFrequency TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:71946958C>T ENST00000266674.5 + 5 845 c.534C>T c.(532-534)ccC>ccT p.P178P LGR5_ENST00000540815.2_Silent_p.P178P|LGR5_ENST00000536515.1_Intron O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 178 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 CAGAAATCCCCGTCCAGGCTT 0.502000 15 52 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30336640 30336640 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:30336640C>T ENST00000375377.1 - 2 203 c.102G>A c.(100-102)agG>agA p.R34R NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 34 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 GTGTCCCAGTCCTCGCTGCCT 0.612000 51 12 0 0 1 0 0 PFKP 5214 broad.mit.edu 37 10 3162143 3162143 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:3162143C>T ENST00000381075.2 + 18 1790 c.1566C>T c.(1564-1566)gtC>gtT p.V522V PFKP_ENST00000381125.4_Silent_p.V530V NM_001242339.1 NP_001229268.1 Q01813 K6PP_HUMAN phosphofructokinase, platelet 530 glycolysis 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142) AGTTCTGTGTCCCCATGGTCA 0.602000 OREG0019976 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 48 10 0 0 1 0 0 MARK1 4139 broad.mit.edu 37 1 220777414 220777414 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:220777414G>A ENST00000402574.1 + 6 1027 c.25G>A c.(25-27)Gta>Ata p.V9I MARK1_ENST00000366917.4_Missense_Mutation_p.V144I|MARK1_ENST00000366918.4_Missense_Mutation_p.V122I NM_018650.3 NP_061120.3 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 144 intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1) 63 GBM - Glioblastoma multiforme(131;0.0407) TTCAGGTGAAGTATTTGATTA 0.328000 43 13 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109577351 109577351 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:109577351C>T ENST00000338432.7 + 2 260 c.141C>T c.(139-141)ccC>ccT p.P47P ACACB_ENST00000377854.5_Silent_p.P47P|ACACB_ENST00000377848.3_Silent_p.P47P O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 47 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) GCCAGGAGCCCTTTCCAGCCT 0.557000 21 49 0 0 1 0 0 RS1 6247 broad.mit.edu 37 X 18660157 18660157 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:18660157C>T ENST00000379984.3 - 6 682 c.642G>A c.(640-642)atG>atA p.M214I RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron NM_000330.3 NP_000321.1 O15537 XLRS1_HUMAN retinoschisin 1 214 F5/8 type C. cell adhesion|multicellular organismal development|response to stimulus|visual perception extracellular space cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1) 15 Hepatocellular(33;0.183) CCAGCAGCTCCATCCGGATGG 0.677000 37 2 0 0 1 0 0 UNC5D 137970 broad.mit.edu 37 8 35624458 35624458 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:35624458G>A ENST00000287272.2 + 14 2165 c.2145G>A c.(2143-2145)caG>caA p.Q715Q UNC5D_ENST00000420357.1_Silent_p.Q717Q|UNC5D_ENST00000404895.2_Silent_p.Q784Q|UNC5D_ENST00000416672.1_Silent_p.Q789Q|UNC5D_ENST00000449677.1_Silent_p.Q360Q|UNC5D_ENST00000453357.2_Silent_p.Q779Q Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 784 Interaction with DCC (By similarity). apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) GTAACCGGCAGCCCCTGCACT 0.587000 19 24 0 0 1 0 0 PUM1 9698 broad.mit.edu 37 1 31441268 31441268 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:31441268G>A ENST00000373747.3 - 11 1680 c.1581C>T c.(1579-1581)ccC>ccT p.P527P PUM1_ENST00000373742.2_Silent_p.P467P|PUM1_ENST00000257075.5_Silent_p.P526P|PUM1_ENST00000373741.4_Silent_p.P562P|PUM1_ENST00000424085.2_Silent_p.P284P|PUM1_ENST00000490546.1_5'UTR|PUM1_ENST00000440538.2_Silent_p.P527P|PUM1_ENST00000423018.2_Silent_p.P430P|PUM1_ENST00000426105.2_Silent_p.P526P NM_001020658.1 NP_001018494.1 Q14671 PUM1_HUMAN pumilio RNA-binding family member 1 526 Ala-rich. cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) CTGCCACAAGGGGATCCGTTT 0.537000 66 24 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9048429 9048429 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:9048429C>T ENST00000397910.4 - 5 33405 c.33202G>A c.(33202-33204)Gaa>Aaa p.E11068K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11070 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGTGTGGTTTCTAGTTCACCA 0.502000 16 54 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113649090 113649090 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:113649090C>T ENST00000297405.5 - 22 3915 c.3671G>A c.(3670-3672)gGt>gAt p.G1224D CSMD3_ENST00000352409.3_Missense_Mutation_p.G1224D|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1184D|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1120D NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1224 Sushi 6. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TCGGCCACCACCAAGACAGAT 0.512000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 32 40 0 0 1 0 0 APH1A 51107 broad.mit.edu 37 1 150238543 150238543 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:150238543G>A ENST00000369109.3 - 7 973 c.785C>T c.(784-786)cCa>cTa p.P262L APH1A_ENST00000414276.2_Missense_Mutation_p.P192L|APH1A_ENST00000360244.4_3'UTR NM_001077628.2 NP_001071096.1 Q96BI3 APH1A_HUMAN APH1A gamma secretase subunit 262 amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane protein binding breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2) 9 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) GTCCTCGGGTGGGATGCGCAG 0.637000 5 13 0 0 1 0 0 HRC 3270 broad.mit.edu 37 19 49657810 49657810 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:49657810C>T ENST00000252825.4 - 1 871 c.685G>A c.(685-687)Gat>Aat p.D229N HRC_ENST00000595625.1_Missense_Mutation_p.D229N NM_002152.2 NP_002143.1 P23327 SRCH_HUMAN histidine rich calcium binding protein 229 4 X tandem repeats, acidic.|6 X approximate tandem repeats. muscle contraction sarcoplasmic reticulum lumen calcium ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2) 34 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) TGGTGTCCATCTGAGACATCC 0.537000 11 9 0 0 1 0 0 COQ9 57017 broad.mit.edu 37 16 57492195 57492195 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:57492195C>T ENST00000262507.6 + 6 713 c.644C>T c.(643-645)tCc>tTc p.S215F COQ9_ENST00000567933.1_Intron|COQ9_ENST00000567072.1_Missense_Mutation_p.S180F NM_020312.3 NP_064708.1 O75208 COQ9_HUMAN coenzyme Q9 215 ubiquinone biosynthetic process mitochondrion breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1) 16 AACATCCCGTCCAGCCTGAGC 0.572000 6 7 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49433939 49433939 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:49433939G>A ENST00000301067.7 - 31 7613 c.7614C>T c.(7612-7614)ttC>ttT p.F2538F NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CTGCCTGAGGGAAAGTGAAAC 0.637000 7 17 0 0 1 0 0 CDH24 64403 broad.mit.edu 37 14 23518287 23518287 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:23518287G>A ENST00000397359.3 - 12 2168 c.1909C>T c.(1909-1911)Ctc>Ttc p.L637F CDH24_ENST00000554034.1_Missense_Mutation_p.L599F|CDH24_ENST00000487137.2_Missense_Mutation_p.L599F|CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000267383.5_Missense_Mutation_p.L637F NM_022478.3 NP_071923.2 Q86UP0 CAD24_HUMAN cadherin 24, type 2 637 adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) CCGGTGCTGAGCCCAGCAGCT 0.637000 4 23 0 0 1 0 0 FUBP3 8939 broad.mit.edu 37 9 133507359 133507359 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:133507359C>T ENST00000319725.9 + 15 1458 c.1383C>T c.(1381-1383)ttC>ttT p.F461F NM_003934.1 NP_003925.1 Q96I24 FUBP3_HUMAN far upstream element (FUSE) binding protein 3 461 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|RNA binding NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2) 21 OV - Ovarian serous cystadenocarcinoma(145;0.000279) CCGGGTGCTTCCCAAACATGG 0.587000 16 51 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 124992888 124992888 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:124992888C>T ENST00000522917.1 + 11 1453 c.1247C>T c.(1246-1248)tCc>tTc p.S416F FER1L6_ENST00000399018.1_Missense_Mutation_p.S416F NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 416 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TCTAAATTTTCCAAGGCCCTG 0.458000 OREG0018964 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 46 0 0 1 0 0 AQP8 343 broad.mit.edu 37 16 25228627 25228627 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:25228627G>A ENST00000219660.5 + 2 246 c.121G>A c.(121-123)Gaa>Aaa p.E41K AQP8_ENST00000566125.1_Missense_Mutation_p.E35K NM_001169.2 NP_001160.2 O94778 AQP8_HUMAN aquaporin 8 41 cellular response to cAMP integral to plasma membrane water channel activity NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 16 GBM - Glioblastoma multiforme(48;0.044) ATGTCTGGTCGAACTGCTGGG 0.617000 100 146 0 0 1 0 0 ZNF160 90338 broad.mit.edu 37 19 53577486 53577486 + Silent SNP A A G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:53577486A>G ENST00000601421.1 - 2 946 c.70T>C c.(70-72)Ttg>Ctg p.L24L ZNF160_ENST00000429604.1_Silent_p.L60L|ZNF160_ENST00000355147.5_Silent_p.L60L|ZNF160_ENST00000418871.1_Silent_p.L60L|ZNF160_ENST00000599056.1_Silent_p.L60L Q9HCG1 ZN160_HUMAN zinc finger protein 160 60 KRAB. hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) CCTTCCTCCAACATGGAGATA 0.443000 35 31 0 0 1 0 0 ZNF682 91120 broad.mit.edu 37 19 20117129 20117129 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:20117129C>T ENST00000397165.2 - 4 1342 c.1182G>A c.(1180-1182)gaG>gaA p.E394E ZNF682_ENST00000358523.5_Silent_p.E362E|ZNF682_ENST00000397162.1_Silent_p.E362E|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000597972.1_Silent_p.E400E|ZNF682_ENST00000595736.1_Silent_p.E318E NM_033196.2 NP_149973.1 O95780 ZN682_HUMAN zinc finger protein 682 394 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 14 TGTAGGGTTTCTCTCCAGTGT 0.378000 21 23 0 0 1 0 0 TAS1R1 80835 broad.mit.edu 37 1 6631138 6631138 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:6631138C>T ENST00000333172.6 + 2 554 c.361C>T c.(361-363)Ctg>Ttg p.L121L TAS1R1_ENST00000351136.3_Silent_p.L121L|TAS1R1_ENST00000328191.4_Silent_p.L121L NM_138697.3 NP_619642.2 Q7RTX1 TS1R1_HUMAN taste receptor, type 1, member 1 121 sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2) 29 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) AGTGCTCTCCCTGCCAGGGCA 0.582000 82 128 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6167203 6167203 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:6167203G>A ENST00000261405.5 - 14 1795 c.1541C>T c.(1540-1542)cCc>cTc p.P514L NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 514 VWFD 2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) GGCATAGACGGGGGACAGCTG 0.567000 24 52 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50278642 50278642 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr18:50278642C>T ENST00000442544.2 + 2 926 c.310C>T c.(310-312)Cat>Tat p.H104Y DCC_ENST00000412726.1_5'UTR NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 104 Ig-like C2-type 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AAACATACTTCATTCCAGACA 0.438000 22 42 0 0 1 0 0 ACTL7B 10880 broad.mit.edu 37 9 111618037 111618037 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:111618037G>A ENST00000374667.3 - 1 1202 c.174C>T c.(172-174)tcC>tcT p.S58S NM_006686.3 NP_006677.1 Q9Y614 ACL7B_HUMAN actin-like 7B 58 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 TGCAGTACTGGGAGCCCAGGT 0.657000 76 77 0 0 1 0 0 MICALCL 84953 broad.mit.edu 37 11 12315139 12315139 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:12315139C>T ENST00000256186.2 + 3 452 c.161C>T c.(160-162)tCg>tTg p.S54L NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 54 Ser-rich. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) TCGCAAGTCTCGAGAGGTCAT 0.468000 48 154 0 0 1 0 0 SHISA3 152573 broad.mit.edu 37 4 42403140 42403140 + Missense_Mutation SNP C C T rs140353032 byFrequency TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:42403140C>T ENST00000319234.4 + 2 607 c.389C>T c.(388-390)tCg>tTg p.S130L NM_001080505.1 NP_001073974.1 A0PJX4 SHSA3_HUMAN shisa family member 3 130 multicellular organismal development endoplasmic reticulum membrane|integral to membrane endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 12 AAGGAGCCCTCGCAGCAGCCA 0.582000 128 122 0 0 1 0 0 A1CF 29974 broad.mit.edu 37 10 52601629 52601629 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:52601629C>T ENST00000395489.2 - 7 733 c.337G>A c.(337-339)Gaa>Aaa p.E113K A1CF_ENST00000374001.1_Missense_Mutation_p.E120K|A1CF_ENST00000395495.1_Missense_Mutation_p.E120K|A1CF_ENST00000282641.2_Missense_Mutation_p.E120K|A1CF_ENST00000373997.3_Missense_Mutation_p.E120K|A1CF_ENST00000373993.1_Missense_Mutation_p.E120K|A1CF_ENST00000373995.3_Missense_Mutation_p.E128K NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 120 RRM 1. cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 TACCTAATTTCATAATTATTA 0.318000 27 3 0 0 1 0 0 RASEF 158158 broad.mit.edu 37 9 85630815 85630815 + Splice_Site SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:85630815C>T ENST00000376447.3 - 4 930 c.669_splice c.e4-1 p.E224_splice NM_152573.2 NP_689786.2 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 224 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 TTGCGTTTTTCCTAAAAGAAA 0.388000 28 79 0 0 1 0 0 VN1R4 317703 broad.mit.edu 37 19 53770138 53770138 + Missense_Mutation SNP T T A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:53770138T>A ENST00000311170.4 - 1 834 c.781A>T c.(781-783)Aat>Tat p.N261Y NM_173857.2 NP_776256.2 Q7Z5H5 VN1R4_HUMAN vomeronasal 1 receptor 4 261 response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 22 GBM - Glioblastoma multiforme(134;0.00294) CTATTGGGATTATCCAAAAGA 0.458000 HNSCC(26;0.072) 9 23 0 0 1 0 0 PRR23A 729627 broad.mit.edu 37 3 138724845 138724845 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:138724845C>T ENST00000383163.2 - 1 265 c.266G>A c.(265-267)cGa>cAa p.R89Q MRPS22_ENST00000495075.1_5'UTR NM_001134659.1 NP_001128131.1 A6NEV1 PR23A_HUMAN proline rich 23A 89 endometrium(3)|kidney(1)|lung(7) 11 GAGAGACACTCGCAGGATCGA 0.657000 6 14 0 0 1 0 0 MYBPH 4608 broad.mit.edu 37 1 203140584 203140584 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:203140584G>A ENST00000255416.4 - 5 777 c.720C>T c.(718-720)gaC>gaT p.D240D NM_004997.2 NP_004988.2 Q13203 MYBPH_HUMAN myosin binding protein H 240 Ig-like C2-type 1. cell adhesion|regulation of striated muscle contraction myosin filament structural constituent of muscle endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(75;0.153) Colorectal(1306;0.0306) AGCGGCCAGAGTCGGAGCGCT 0.632000 10 54 0 0 1 0 0 SERPINB13 5275 broad.mit.edu 37 18 61262351 61262351 + Missense_Mutation SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr18:61262351T>C ENST00000344731.5 + 7 806 c.704T>C c.(703-705)aTt>aCt p.I235T SERPINB13_ENST00000269489.5_Intron NM_012397.3 NP_036529.1 Q9UIV8 SPB13_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 13 235 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 ATTCTAGGGATTCCATATAAA 0.428000 43 53 0 0 1 0 0 CAPN3 825 broad.mit.edu 37 15 42702021 42702021 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr15:42702021C>T ENST00000397163.3 + 18 2248 c.2029C>T c.(2029-2031)Ctt>Ttt p.L677F CAPN3_ENST00000397200.4_Missense_Mutation_p.L165F|CAPN3_ENST00000397204.4_Missense_Mutation_p.L12F|CAPN3_ENST00000356316.3_Missense_Mutation_p.L584F|CAPN3_ENST00000318023.7_Missense_Mutation_p.L671F|CAPN3_ENST00000569136.1_Missense_Mutation_p.L12F|CAPN3_ENST00000349748.3_Missense_Mutation_p.L585F|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000337571.4_Missense_Mutation_p.L12F|CAPN3_ENST00000357568.3_Missense_Mutation_p.L671F|CAPN3_ENST00000561817.1_Missense_Mutation_p.L12F|CAPN3_ENST00000562199.1_3'UTR NM_000070.2 NP_000061.1 P20807 CAN3_HUMAN calpain 3, (p94) 677 Domain IV.|EF-hand 1. muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 47 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) CAAGAAGGTCCTTAACACAGT 0.547000 80 22 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9046338 9046338 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:9046338G>A ENST00000397910.4 - 5 35496 c.35293C>T c.(35293-35295)Cct>Tct p.P11765S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11767 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGCATACCAGGAGAATGAGTC 0.468000 12 37 0 0 1 0 0 ATP8A1 10396 broad.mit.edu 37 4 42545975 42545975 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:42545975G>A ENST00000381668.5 - 20 1912 c.1681C>T c.(1681-1683)Cgc>Tgc p.R561C ATP8A1_ENST00000264449.10_Missense_Mutation_p.R546C NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 561 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) GATGGAGTGCGAACAATCACT 0.338000 17 11 0 0 1 0 0 ESRRB 2103 broad.mit.edu 37 14 76905809 76905809 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:76905809C>T ENST00000380887.2 + 2 185 c.113C>T c.(112-114)tCg>tTg p.S38L ESRRB_ENST00000261532.7_Missense_Mutation_p.S38L|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000556177.1_Missense_Mutation_p.S38L|ESRRB_ENST00000509242.1_Missense_Mutation_p.S38L A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 38 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(234;0.0213) CCCAGTGGCTCGTCCGACGCC 0.701000 17 48 0 0 1 0 0 KLK14 43847 broad.mit.edu 37 19 51582847 51582847 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:51582847C>T ENST00000391802.1 - 5 591 c.373G>A c.(373-375)Gac>Aac p.D125N KLK14_ENST00000156499.2_Missense_Mutation_p.D125N NM_022046.4 NP_071329.2 Q9P0G3 KLK14_HUMAN kallikrein-related peptidase 14 125 Peptidase S1. epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction extracellular space serine-type endopeptidase activity kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1) 11 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422) AGGTCGTTGTCGTGGGTCCGG 0.667000 8 21 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183675573 183675573 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:183675573C>T ENST00000511685.1 + 22 4176 c.4053C>T c.(4051-4053)aaC>aaT p.N1351N TENM3_ENST00000406950.2_Silent_p.N1351N|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 TAGCCATTAACCCTATGGATA 0.423000 6 4 0 0 1 0 0 NUTM2A-AS1 728190 broad.mit.edu 37 10 88975774 88975774 + RNA SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:88975774G>A ENST00000451940.2 - 0 600 GTTCTGCACCGCGGTCAGGCT 0.607000 8 5 0 0 1 0 0 CYTH2 9266 broad.mit.edu 37 19 48977536 48977536 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:48977536C>T ENST00000427476.1 + 7 945 c.645C>T c.(643-645)gcC>gcT p.A215A CYTH2_ENST00000452733.2_Silent_p.A215A NM_004228.6|NM_017457.5 NP_004219.3|NP_059431.1 Q99418 CYH2_HUMAN cytohesin 2 215 actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|membrane fraction|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 GCTTTGTGGCCATGAACCGGG 0.637000 34 48 0 0 1 0 0 KIAA1257 57501 broad.mit.edu 37 3 128690107 128690107 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:128690107G>A ENST00000265068.5 - 8 1358 c.1191C>T c.(1189-1191)tcC>tcT p.S397S KIAA1257_ENST00000515659.1_Silent_p.S285S|RP11-723O4.6_ENST00000508239.1_Intron|KIAA1257_ENST00000511438.1_Intron NM_020741.2 NP_065792.1 Q9ULG3 K1257_HUMAN KIAA1257 397 breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2) 14 GGAGCTGCTGGGAACAGGGCA 0.612000 OREG0015784 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 14 0 0 1 0 0 TCL1A 8115 broad.mit.edu 37 14 96180290 96180290 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:96180290G>A ENST00000402399.1 - 1 243 c.114C>T c.(112-114)acC>acT p.T38T TCL1A_ENST00000556450.1_Silent_p.T38T|TCL1A_ENST00000554012.1_Silent_p.T38T|TCL1A_ENST00000555202.1_Silent_p.T38T|RP11-164H13.1_ENST00000553445.1_RNA|RP11-164H13.1_ENST00000547644.2_RNA NM_021966.2 NP_068801.1 P56279 TCL1A_HUMAN T-cell leukemia/lymphoma 1A 38 multicellular organismal development endoplasmic reticulum|microsome haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 12 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) GTACCTCGATGGTTAAGGGCA 0.642000 T TRA@ T-CLL 29 77 0 0 1 0 0 PTGDR 5729 broad.mit.edu 37 14 52741455 52741455 + Missense_Mutation SNP G G C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:52741455G>C ENST00000306051.2 + 2 955 c.853G>C c.(853-855)Gct>Cct p.A285P PTGDR_ENST00000553372.1_3'UTR NM_000953.2 NP_000944.1 Q13258 PD2R_HUMAN prostaglandin D2 receptor (DP) 285 integral to membrane|plasma membrane prostaglandin D receptor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Breast(41;0.0639)|all_epithelial(31;0.0887) Nedocromil(DB00716) ACAGTATCGCGCTTACTATGG 0.393000 12 26 0 0 1 0 0 ATCAY 85300 broad.mit.edu 37 19 3907898 3907898 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:3907898G>A ENST00000450849.2 + 5 992 c.525G>A c.(523-525)atG>atA p.M175I ATCAY_ENST00000398448.3_Missense_Mutation_p.M181I|ATCAY_ENST00000301260.6_Missense_Mutation_p.M175I|ATCAY_ENST00000600960.1_Missense_Mutation_p.M175I NM_033064.4 NP_149053.1 Q86WG3 ATCAY_HUMAN ataxia, cerebellar, Cayman type 175 CRAL-TRIO. transport protein binding breast(1)|endometrium(2)|kidney(2)|lung(2) 7 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183) GGCCTTACATGAAAGTGGTCA 0.677000 11 15 0 0 1 0 0 HTR3C 170572 broad.mit.edu 37 3 183778032 183778032 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:183778032G>A ENST00000318351.1 + 9 1270 c.1236G>A c.(1234-1236)atG>atA p.M412I NM_130770.2 NP_570126.2 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 412 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CCCAGCTAATGGAGCTGTGGG 0.597000 48 36 0 0 1 0 0 CACNA2D4 93589 broad.mit.edu 37 12 2027447 2027447 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:2027447G>A ENST00000382722.5 - 1 555 c.193C>T c.(193-195)Cct>Tct p.P65S CACNA2D4_ENST00000586184.1_Missense_Mutation_p.P65S|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.P65S|RP5-1096D14.3_ENST00000544163.1_RNA|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.P65S NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 65 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) CCCCACGCAGGGGACAGGGAG 0.622000 8 5 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24406673 24406673 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:24406673C>T ENST00000330966.7 - 20 2584 c.2422G>A c.(2422-2424)Gat>Aat p.D808N MYOM3_ENST00000374434.3_Missense_Mutation_p.D807N|MYOM3_ENST00000329601.7_Missense_Mutation_p.D807N|RP11-293P20.4_ENST00000429191.1_RNA|RP11-293P20.2_ENST00000439239.2_RNA Q5VTT5 MYOM3_HUMAN myomesin 3 807 Fibronectin type-III 5. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GCCCGTACATCGTACGGGGGG 0.602000 11 81 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128367568 128367568 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:128367568C>T ENST00000389524.4 + 24 3222 c.3169C>T c.(3169-3171)Cca>Tca p.P1057S MYO7B_ENST00000409816.2_Missense_Mutation_p.P1057S|MYO7B_ENST00000428314.1_Missense_Mutation_p.P1057S Q6PIF6 MYO7B_HUMAN myosin VIIB 1057 MyTH4 1. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) TGCCCAGGTTCCACAGCACAG 0.657000 9 5 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71509179 71509179 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:71509179G>A ENST00000396073.3 + 9 2317 c.2036G>A c.(2035-2037)gGa>gAa p.G679E ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 679 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) AGCTTCAAAGGAGGCCCAACA 0.418000 22 49 0 0 1 0 0 TMCC2 9911 broad.mit.edu 37 1 205197873 205197873 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:205197873C>T ENST00000358024.3 + 1 570 c.181C>T c.(181-183)Ccc>Tcc p.P61S NM_014858.3 NP_055673.2 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 61 integral to membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1) 20 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) CAACCCAGGTCCCCGAAGCAA 0.682000 5 34 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152382699 152382699 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:152382699C>T ENST00000427231.2 - 149 22225 c.22023G>A c.(22021-22023)gcG>gcA p.A7341A NEB_ENST00000409198.1_Silent_p.A5640A|NEB_ENST00000603639.1_Silent_p.A7341A|NEB_ENST00000397345.3_Silent_p.A7341A|NEB_ENST00000604864.1_Silent_p.A7341A|NEB_ENST00000172853.10_Silent_p.A5640A NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 5640 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TGACAGTCTTCGCCAGCAGGA 0.552000 12 41 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25465684 25465684 + RNA SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr15:25465684G>A ENST00000424208.1 + 0 3039 SNHG14_ENST00000453082.2_RNA|SNORD115-27_ENST00000364430.1_RNA NR_003305.1 GAAAAGAGGTGATGACTTAAC 0.498000 65 22 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102476379 102476379 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:102476379C>T ENST00000360184.4 + 30 6341 c.6177C>T c.(6175-6177)ttC>ttT p.F2059F NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 2059 AAA 1 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 CACAGGGTTTCCGCACTGCTG 0.463000 55 41 0 0 1 0 0 OR7G1 125962 broad.mit.edu 37 19 9226086 9226086 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:9226086C>T ENST00000293614.1 - 1 353 c.354G>A c.(352-354)atG>atA p.M118I OR7G1_ENST00000541538.1_Missense_Mutation_p.M118I Q8NGA0 OR7G1_HUMAN olfactory receptor, family 7, subfamily G, member 1 118 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2) 20 GGTCGTAGGCCATGACTGCAA 0.488000 23 63 0 0 1 0 0 BCKDHB 594 broad.mit.edu 37 6 80877513 80877513 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:80877513C>T ENST00000545529.1 + 4 490 c.462C>T c.(460-462)ttC>ttT p.F154F BCKDHB_ENST00000320393.6_Silent_p.F154F|BCKDHB_ENST00000369760.4_Silent_p.F154F|BCKDHB_ENST00000356489.5_Silent_p.F154F P21953 ODBB_HUMAN branched chain keto acid dehydrogenase E1, beta polypeptide 154 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1) 15 all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149) BRCA - Breast invasive adenocarcinoma(397;0.0291) ATTATATTTTCCCTGCATTTG 0.413000 6 20 0 0 1 0 0 TLE2 7089 broad.mit.edu 37 19 3000675 3000675 + Nonsense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:3000675C>T ENST00000262953.6 - 19 2356 c.2094G>A c.(2092-2094)tgG>tgA p.W698* TLE2_ENST00000586422.1_Intron|TLE2_ENST00000455444.2_Nonsense_Mutation_p.W576*|TLE2_ENST00000447365.2_Nonsense_Mutation_p.W365*|TLE2_ENST00000443826.3_Nonsense_Mutation_p.W576*|TLE2_ENST00000426948.2_Intron|TLE2_ENST00000590536.1_Nonsense_Mutation_p.W699*|TLE2_ENST00000591529.1_Intron NM_003260.4 NP_003251.2 Q04725 TLE2_HUMAN transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) 698 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 13 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) ACGGCGTCCTCCAGGCGTTGA 0.642000 6 1 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 157396738 157396738 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:157396738C>T ENST00000389413.3 - 15 2390 c.2287G>A c.(2287-2289)Gag>Aag p.E763K PTPRN2_ENST00000389416.4_Missense_Mutation_p.E775K|PTPRN2_ENST00000404321.2_Missense_Mutation_p.E815K|PTPRN2_ENST00000389418.4_Missense_Mutation_p.E792K|PTPRN2_ENST00000409483.1_Missense_Mutation_p.E754K NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 792 Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) TGGCTGTTCTCCGCCTTCAGC 0.632000 23 21 0 0 1 0 0 TRAPPC12 51112 broad.mit.edu 37 2 3392198 3392198 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:3392198C>T ENST00000324266.5 + 2 999 c.804C>T c.(802-804)ccC>ccT p.P268P TRAPPC12_ENST00000382110.2_Silent_p.P268P NM_016030.5 NP_057114.5 Q8WVT3 TTC15_HUMAN trafficking protein particle complex 12 268 binding TGCGAGGGCCCCAGGCAGCTG 0.746000 4 15 0 0 1 0 0 BAIAP2L1 55971 broad.mit.edu 37 7 97935801 97935801 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:97935801C>T ENST00000005260.8 - 11 1406 c.1191G>A c.(1189-1191)acG>acA p.T397T NM_018842.4 NP_061330.2 Q9UHR4 BI2L1_HUMAN BAI1-associated protein 2-like 1 397 SH3. filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction cell junction|cytoskeleton|cytosol|nucleus actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1) 23 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) STAD - Stomach adenocarcinoma(171;0.215) CCAGCAACTTCGTGTACGACG 0.567000 23 61 0 0 1 0 0 OR1C1 26188 broad.mit.edu 37 1 247921066 247921066 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:247921066G>A ENST00000408896.2 - 1 916 c.643C>T c.(643-645)Ctc>Ttc p.L215F NM_012353.2 NP_036485.2 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, member 1 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TAAGATACGAGGATACAGACA 0.493000 20 12 0 0 1 0 0 TRIM39 56658 broad.mit.edu 37 6 30309562 30309562 + Missense_Mutation SNP C C G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:30309562C>G ENST00000376659.5 + 8 1591 c.993C>G c.(991-993)ttC>ttG p.F331L TRIM39_ENST00000396548.1_Missense_Mutation_p.F331L|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.F243L|TRIM39_ENST00000396547.1_Missense_Mutation_p.F361L|TRIM39_ENST00000540416.1_Missense_Mutation_p.F331L|TRIM39_ENST00000396551.3_Missense_Mutation_p.F331L|TRIM39_ENST00000376656.4_Missense_Mutation_p.F361L NM_172016.2 NP_742013.1 tripartite motif containing 39 ovary(3) 3 GCGTCAAGTTCGTGGAGACAA 0.572000 9 25 0 0 1 0 0 DDX60L 91351 broad.mit.edu 37 4 169300899 169300899 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:169300899G>A ENST00000511577.1 - 31 4446 c.4199C>T c.(4198-4200)tCc>tTc p.S1400F DDX60L_ENST00000260184.7_Missense_Mutation_p.S1400F Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 1400 ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) GAGCTGCAAGGAAAACAAAAA 0.368000 5 17 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38647444 38647444 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:38647444C>T ENST00000413689.1 - 10 1529 c.1336G>A c.(1336-1338)Gag>Aag p.E446K SCN5A_ENST00000455624.2_Missense_Mutation_p.E446K|SCN5A_ENST00000451551.2_Missense_Mutation_p.E446K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E446K|SCN5A_ENST00000443581.1_Missense_Mutation_p.E446K|SCN5A_ENST00000423572.2_Missense_Mutation_p.E446K|SCN5A_ENST00000425664.1_Missense_Mutation_p.E446K|SCN5A_ENST00000414099.2_Missense_Mutation_p.E446K|SCN5A_ENST00000449557.2_Missense_Mutation_p.E446K|SCN5A_ENST00000333535.4_Missense_Mutation_p.E446K NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 446 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TCACCCACCTCGTGTTCTTTC 0.562000 20 16 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144942717 144942717 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:144942717C>T ENST00000525985.1 - 2 4776 c.4705G>A c.(4705-4707)Gga>Aga p.G1569R P58107 EPIPL_HUMAN epiplakin 1 1569 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) AAGTTGCCTCCCTCCAGGGAC 0.642000 4 14 0 0 1 0 0 CCR8 1237 broad.mit.edu 37 3 39373938 39373938 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:39373938C>T ENST00000326306.4 + 2 254 c.116C>T c.(115-117)gCt>gTt p.A39V CCR8_ENST00000545843.1_Intron|CCR8_ENST00000414803.1_Intron NM_005201.3 NP_005192.1 P51685 CCR8_HUMAN chemokine (C-C motif) receptor 8 39 cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane coreceptor activity NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635) TTGCTCCTTGCTGTCTTTTAT 0.478000 42 35 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60885242 60885242 + Missense_Mutation SNP C C T rs139502000 byFrequency TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:60885242C>T ENST00000252999.3 - 77 10792 c.10726G>A c.(10726-10728)Gag>Aag p.E3576K NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 3576 Laminin G-like 5. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACTTGCTTCTCGGTCACCTGC 0.657000 46 37 0 0 1 0 0 MBD4 8930 broad.mit.edu 37 3 129152780 129152780 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:129152780G>A ENST00000429544.2 - 5 1501 c.1306C>T c.(1306-1308)Cgg>Tgg p.R436W MBD4_ENST00000507208.1_Missense_Mutation_p.R442W|MBD4_ENST00000509587.1_5'UTR|MBD4_ENST00000503197.1_Missense_Mutation_p.R442W|MBD4_ENST00000393278.2_Missense_Mutation_p.R124W|MBD4_ENST00000249910.1_Missense_Mutation_p.R442W NM_001276270.1 NP_001263199.1 O95243 MBD4_HUMAN methyl-CpG binding domain protein 4 442 depyrimidination nucleoplasm DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1) 22 AAAGGTGACCGAGGAGGTGTC 0.403000 Base excision repair (BER), DNA glycosylases 30 33 0 0 1 0 0 SETD1A 9739 broad.mit.edu 37 16 30972806 30972806 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:30972806C>T ENST00000262519.8 + 4 1151 c.465C>T c.(463-465)ctC>ctT p.L155L NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 155 RRM. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 TCAAAAACCTCCACCTTACCT 0.602000 28 46 0 0 1 0 0 ZFP64 55734 broad.mit.edu 37 20 50701678 50701678 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:50701678G>A ENST00000361387.2 - 9 1416 c.1356C>T c.(1354-1356)acC>acT p.T452T ZFP64_ENST00000371523.4_Silent_p.T233T|ZFP64_ENST00000371518.2_Intron NM_199427.2 NP_955459.2 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 435 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 TCGCCTTCATGGTGCAGCGGA 0.562000 63 44 0 0 1 0 0 WIZ 58525 broad.mit.edu 37 19 15536418 15536418 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:15536418G>A ENST00000389282.4 - 7 4027 c.3814C>T c.(3814-3816)Ctc>Ttc p.L1272F WIZ_ENST00000599910.1_Missense_Mutation_p.L589F|WIZ_ENST00000263381.6_Missense_Mutation_p.L415F|WIZ_ENST00000545156.1_Missense_Mutation_p.L586F|WIZ_ENST00000599686.2_Missense_Mutation_p.L456F O95785 WIZ_HUMAN widely interspaced zinc finger motifs 1272 nucleus zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 24 TTCTTCTTGAGGATCTCTCGC 0.657000 14 18 0 0 1 0 0 THEMIS 387357 broad.mit.edu 37 6 128134908 128134908 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:128134908C>T ENST00000368250.1 - 5 1139 c.641G>A c.(640-642)gGa>gAa p.G214E THEMIS_ENST00000368248.2_Missense_Mutation_p.G293E|THEMIS_ENST00000537166.1_Missense_Mutation_p.G258E|THEMIS_ENST00000543064.1_Missense_Mutation_p.G293E Q8N1K5 THMS1_HUMAN thymocyte selection associated 293 CABIT 1. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 CAGGTGGTTTCCTTCAGGTGC 0.403000 22 58 0 0 1 0 0 PEX5L 51555 broad.mit.edu 37 3 179593220 179593220 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:179593220C>T ENST00000467460.1 - 6 881 c.551G>A c.(550-552)gGa>gAa p.G184E PEX5L_ENST00000472994.1_Missense_Mutation_p.G125E|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000476138.1_Missense_Mutation_p.G141E|PEX5L_ENST00000465751.1_Missense_Mutation_p.G160E|PEX5L_ENST00000464614.1_Missense_Mutation_p.G76E|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000263962.8_Missense_Mutation_p.G182E|PEX5L_ENST00000392649.3_Missense_Mutation_p.G76E|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000485199.1_Missense_Mutation_p.G149E NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 184 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) ATTTCGATCTCCATGAAACTT 0.453000 39 16 0 0 1 0 0 TMEM108 66000 broad.mit.edu 37 3 133099172 133099172 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:133099172C>T ENST00000515826.1 + 3 740 c.617C>T c.(616-618)cCt>cTt p.P206L TMEM108_ENST00000393130.3_Missense_Mutation_p.P206L|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000321871.6_Missense_Mutation_p.P206L Q6UXF1 TM108_HUMAN transmembrane protein 108 206 integral to membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 AGCTCCACACCTCTGGGGCAG 0.592000 13 21 0 0 1 0 0 TKTL2 84076 broad.mit.edu 37 4 164393463 164393463 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:164393463C>T ENST00000280605.3 - 1 1584 c.1424G>A c.(1423-1425)cGa>cAa p.R475Q NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 475 cytoplasm metal ion binding|transketolase activity p.R475Q(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TTGGCTGGTTCGAATGAAGCA 0.453000 30 46 0 0 1 0 0 WDR78 79819 broad.mit.edu 37 1 67301343 67301343 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:67301343G>A ENST00000371026.3 - 11 1754 c.1699C>T c.(1699-1701)Cgg>Tgg p.R567W WDR78_ENST00000431318.1_Missense_Mutation_p.R313W NM_024763.4 NP_079039.4 Q5VTH9 WDR78_HUMAN WD repeat domain 78 567 NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 CTGTTGCTCCGTACATTGTAA 0.373000 17 90 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160106421 160106421 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:160106421C>T ENST00000361216.3 + 19 2714 c.2625C>T c.(2623-2625)ttC>ttT p.F875F ATP1A2_ENST00000392233.3_Silent_p.F875F|ATP1A2_ENST00000472488.1_3'UTR NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 875 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) AGAACGGTTTCCTGCCATCAC 0.582000 80 30 0 0 1 0 0 REL 5966 broad.mit.edu 37 2 61145543 61145543 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:61145543C>T ENST00000295025.7 + 7 975 c.655C>T c.(655-657)Cgt>Tgt p.R219C REL_ENST00000394479.3_Missense_Mutation_p.R219C NM_002908.2 NP_002899.1 Q04864 REL_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog 219 RHD. positive regulation of I-kappaB kinase/NF-kappaB cascade nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 16 all_hematologic(2;0.0797) Ovarian(717;0.0728) LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221) CATAGAAGTTCGTTTTGTGTT 0.323000 A Hodgkin Lymphoma 24 50 0 0 1 0 0 CTDSPL2 51496 broad.mit.edu 37 15 44778815 44778815 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr15:44778815C>T ENST00000260327.4 + 4 955 c.392C>T c.(391-393)tCc>tTc p.S131F CTDSPL2_ENST00000396780.1_Missense_Mutation_p.S131F|CTDSPL2_ENST00000558373.1_Missense_Mutation_p.S131F|CTDSPL2_ENST00000558966.1_Missense_Mutation_p.S131F NM_016396.2 NP_057480.2 Q05D32 CTSL2_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 131 phosphoprotein phosphatase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2) 13 all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905) GATAATCCTTCCTCTGGCAGT 0.328000 56 12 0 0 1 0 0 DCAF8L2 347442 broad.mit.edu 37 X 27766188 27766188 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:27766188G>A ENST00000451261.2 + 5 1575 c.1176G>A c.(1174-1176)agG>agA p.R392R NM_001136533.1 NP_001130005.1 DDB1 and CUL4 associated factor 8-like 2 central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3) 24 AGTTTGTAAGGATTTATGACC 0.373000 14 6 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61823307 61823307 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:61823307G>A ENST00000577390.1 - 8 2311 c.1357C>T c.(1357-1359)Cca>Tca p.P453S CDH8_ENST00000299345.6_Missense_Mutation_p.P453S|CDH8_ENST00000584337.1_Missense_Mutation_p.P453S|CDH8_ENST00000577730.1_Missense_Mutation_p.P453S NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 453 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) CTGTCAAGTGGTGTTGCCAGC 0.428000 17 34 0 0 1 0 0 SPTLC3 55304 broad.mit.edu 37 20 13098368 13098368 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:13098368G>A ENST00000399002.2 + 8 1422 c.1148G>A c.(1147-1149)aGg>aAg p.R383K SPTLC3_ENST00000378194.4_Intron NM_018327.2 NP_060797.2 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base subunit 3 383 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) ATAGCTGGAAGGAAGGTAAGA 0.483000 25 55 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 134108517 134108517 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:134108517C>T ENST00000220616.4 + 43 7512 c.7472C>T c.(7471-7473)cCt>cTt p.P2491L SLA_ENST00000518565.1_Intron|TG_ENST00000377869.1_Missense_Mutation_p.P2434L|SLA_ENST00000338087.5_Intron|SLA_ENST00000395352.3_Intron|SLA_ENST00000524345.1_Intron|TG_ENST00000519543.1_Missense_Mutation_p.P624L|TG_ENST00000542445.1_Missense_Mutation_p.P861L|SLA_ENST00000517648.1_Intron NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2491 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CTCCGTGAGCCTCCAGCCAGA 0.547000 91 140 0 0 1 0 0 AIFM3 150209 broad.mit.edu 37 22 21328366 21328366 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:21328366G>A ENST00000399167.2 + 5 610 c.370G>A c.(370-372)Ggt>Agt p.G124S AIFM3_ENST00000405089.1_Missense_Mutation_p.G130S|AIFM3_ENST00000333607.6_Missense_Mutation_p.G124S|AIFM3_ENST00000335375.5_Missense_Mutation_p.G112S|AIFM3_ENST00000399163.2_Missense_Mutation_p.G124S|AIFM3_ENST00000440238.2_Missense_Mutation_p.G124S NM_144704.2 NP_653305.1 apoptosis-inducing factor, mitochondrion-associated, 3 breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 21 all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0367) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) TCTGTCCCGTGGTCGGGTGCG 0.667000 12 20 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 26026306 26026306 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr15:26026306G>A ENST00000356865.6 - 2 625 c.514C>T c.(514-516)Cgc>Tgc p.R172C NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 172 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) TCGTTGCAGCGAAGACGCACA 0.493000 35 7 0 0 1 0 0 TACR3 6870 broad.mit.edu 37 4 104510894 104510894 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:104510894G>A ENST00000304883.2 - 5 1483 c.1343C>T c.(1342-1344)tCc>tTc p.S448F RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 448 integral to plasma membrane tachykinin receptor activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) TGAAGTGGCGGAGGCAGATTT 0.473000 32 66 0 0 1 0 0 KIAA1024 23251 broad.mit.edu 37 15 79748566 79748566 + Missense_Mutation SNP C C A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr15:79748566C>A ENST00000305428.3 + 2 152 c.77C>A c.(76-78)tCt>tAt p.S26Y NM_015206.2 NP_056021.1 Q9UPX6 K1024_HUMAN KIAA1024 26 integral to membrane central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1) 49 AATACCGTTTCTTATCAGGAC 0.473000 44 9 3.77016e-25 3.84307e-25 1 1 0 GON4L 54856 broad.mit.edu 37 1 155796745 155796745 + Nonsense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:155796745G>A ENST00000437809.1 - 3 702 c.580C>T c.(580-582)Cag>Tag p.Q194* GON4L_ENST00000368331.1_Nonsense_Mutation_p.Q194*|GON4L_ENST00000271883.5_Nonsense_Mutation_p.Q194*|GON4L_ENST00000361040.5_Nonsense_Mutation_p.Q194*|GON4L_ENST00000471341.1_5'UTR Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 194 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) TTCCTGGGCTGGCTTACTGGT 0.483000 71 22 0 0 1 0 0 HRASLS 57110 broad.mit.edu 37 3 192973492 192973492 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:192973492G>A ENST00000264735.2 + 2 462 c.368G>A c.(367-369)gGg>gAg p.G123E HRASLS_ENST00000602513.1_Missense_Mutation_p.G18E NM_020386.4 NP_065119.2 Q9HDD0 HRSL1_HUMAN HRAS-like suppressor 18 breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2) 10 all_cancers(143;9.1e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000159) CCCTGCCCAGGGGACTTGATC 0.463000 47 44 0 0 1 0 0 CD96 10225 broad.mit.edu 37 3 111296379 111296379 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:111296379C>T ENST00000283285.5 + 4 705 c.574C>T c.(574-576)Ctt>Ttt p.L192F CD96_ENST00000438817.2_Intron|CD96_ENST00000352690.4_Intron NM_198196.2 NP_937839.1 P40200 TACT_HUMAN CD96 molecule 192 Ig-like V-type 2. cell adhesion|immune response|regulation of immune response integral to plasma membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5) 35 TTGGGTCCTTCTTTCTAAGGG 0.403000 Opitz Trigonocephaly syndrome 50 58 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73457934 73457934 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:73457934G>A ENST00000377110.2 - 5 1029 c.786C>T c.(784-786)gaC>gaT p.D262D TRPM3_ENST00000358082.3_Silent_p.D109D|TRPM3_ENST00000396285.1_Silent_p.D109D|TRPM3_ENST00000396292.4_Silent_p.D109D|TRPM3_ENST00000357533.2_Silent_p.D264D|TRPM3_ENST00000396280.5_Silent_p.D109D|TRPM3_ENST00000396283.1_Silent_p.D109D|TRPM3_ENST00000360823.2_Silent_p.D109D|TRPM3_ENST00000377101.1_Silent_p.D109D|TRPM3_ENST00000377106.1_Silent_p.D109D|TRPM3_ENST00000377111.2_Silent_p.D262D|TRPM3_ENST00000423814.3_Silent_p.D264D|TRPM3_ENST00000377097.3_Silent_p.D109D|TRPM3_ENST00000377105.1_Silent_p.D109D|TRPM3_ENST00000361823.5_Silent_p.D109D|TRPM3_ENST00000408909.2_Silent_p.D109D NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 262 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 TTCCAATGAGGTCCTCCTGGT 0.443000 17 10 0 0 1 0 0 CD1E 913 broad.mit.edu 37 1 158324322 158324322 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:158324322G>A ENST00000368160.3 + 2 214 c.214G>A c.(214-216)Ggc>Agc p.G72S CD1E_ENST00000368155.3_Missense_Mutation_p.G72S|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.G72S|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.G70S|CD1E_ENST00000368156.1_Missense_Mutation_p.G72S|CD1E_ENST00000368165.3_Missense_Mutation_p.G72S|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.G72S|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.G72S NM_001042583.2 NP_001036048.1 P15812 CD1E_HUMAN CD1e molecule 72 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) CACTGTCTTGGGCACCATCCG 0.517000 60 22 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940609 144940609 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:144940609G>A ENST00000525985.1 - 2 6884 c.6813C>T c.(6811-6813)ttC>ttT p.F2271F P58107 EPIPL_HUMAN epiplakin 1 2271 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GGTCGATGACGAAGCCGGTGG 0.716000 8 126 0 0 1 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1995415 1995415 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:1995415C>T ENST00000382722.5 - 8 1329 c.967G>A c.(967-969)Gag>Aag p.E323K CACNA2D4_ENST00000586184.1_Missense_Mutation_p.E323K|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.E259K|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.E259K|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.E323K|CACNA2D4_ENST00000585732.1_Intron NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 323 VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) AAGTCATTCTCCCCCAGGGTG 0.478000 16 20 0 0 1 0 0 ACAP1 9744 broad.mit.edu 37 17 7247260 7247260 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:7247260G>A ENST00000158762.3 + 8 860 c.654G>A c.(652-654)aaG>aaA p.K218K ACAP1_ENST00000573893.1_3'UTR NM_014716.3 NP_055531.1 Q15027 ACAP1_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 218 BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 AGTATCGAAAGGAGCTGGGCG 0.652000 9 4 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17056389 17056389 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:17056389C>T ENST00000443236.1 - 22 2935 c.2904G>A c.(2902-2904)gtG>gtA p.V968V NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 921 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 TGACGTGATCCACCCCGATGG 0.597000 28 21 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40368695 40368695 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:40368695C>T ENST00000221347.6 - 28 12660 c.12653G>A c.(12652-12654)gGt>gAt p.G4218D NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4218 VWFD 10. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GTCCATGTTACCGCAGAGCCC 0.617000 25 201 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139712376 139712376 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:139712376G>A ENST00000303045.6 - 32 3017 c.2571C>T c.(2569-2571)ttC>ttT p.F857F COL22A1_ENST00000435777.1_Silent_p.F857F|COL22A1_ENST00000341807.4_5'UTR NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 857 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GATGTGGTGTGAACAGGGATG 0.527000 HNSCC(7;0.00092) 3 8 0 0 1 0 0 ATF3 467 broad.mit.edu 37 1 212792763 212792763 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:212792763G>A ENST00000341491.4 + 4 677 c.412G>A c.(412-414)Gag>Aag p.E138K ATF3_ENST00000366987.2_Missense_Mutation_p.E138K|ATF3_ENST00000366985.1_Missense_Mutation_p.E81K|ATF3_ENST00000366983.1_3'UTR|ATF3_ENST00000492118.1_3'UTR NM_001040619.2|NM_001206488.2|NM_001674.3 NP_001035709.1|NP_001193417.2|NP_001665.1 P18847 ATF3_HUMAN activating transcription factor 3 138 Leucine-zipper. nucleolus identical protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 6 OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933) GCTCAAGAACGAGAAGCAGCA 0.498000 84 18 0 0 1 0 0 CLEC18C 283971 broad.mit.edu 37 16 70211332 70211332 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:70211332C>T ENST00000569347.2 + 3 659 c.405C>T c.(403-405)agC>agT p.S135S CLEC18C_ENST00000314151.8_Silent_p.S135S|CLEC18C_ENST00000541793.2_Silent_p.S135S|CLEC18C_ENST00000536907.2_Silent_p.S135S|CLEC18C_ENST00000561612.1_Intron NM_173619.2 NP_775890.2 C-type lectin domain family 18, member C endometrium(3)|large_intestine(6)|lung(1) 10 AGCGGTACAGCCACGCGGCAG 0.632000 9 76 0 0 1 0 0 DNAJC22 79962 broad.mit.edu 37 12 49745267 49745267 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:49745267C>T ENST00000549441.2 + 4 2212 c.1008C>T c.(1006-1008)ccC>ccT p.P336P DNAJC22_ENST00000395069.3_Silent_p.P336P Q8N4W6 DJC22_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 22 336 J. protein folding integral to membrane heat shock protein binding|unfolded protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1) 10 CCAGGAAGCCCTGGGGATCCC 0.567000 8 17 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31323748 31323748 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr18:31323748C>T ENST00000269197.5 + 12 3936 c.3936C>T c.(3934-3936)tcC>tcT p.S1312S NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1312 Ser-rich. 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 CAGAGGGCTCCAGCATATCAA 0.443000 48 80 0 0 1 0 0 CD1B 910 broad.mit.edu 37 1 158300713 158300713 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:158300713G>A ENST00000368168.3 - 2 308 c.201C>T c.(199-201)ttC>ttT p.F67F NM_001764.2 NP_001755.1 P29016 CD1B_HUMAN CD1b molecule 67 antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 30 all_hematologic(112;0.0378) AAGGCTTCAGGAATATGGCAG 0.468000 296 96 0 0 1 0 0 SPTLC3 55304 broad.mit.edu 37 20 13074168 13074168 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:13074168C>T ENST00000399002.2 + 6 1044 c.770C>T c.(769-771)tCg>tTg p.S257L SPTLC3_ENST00000378194.4_Missense_Mutation_p.S257L NM_018327.2 NP_060797.2 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base subunit 3 257 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) AACCACACATCGCTTGTGCTT 0.408000 18 74 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215855595 215855595 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:215855595G>A ENST00000272895.7 - 24 3674 c.3455C>T c.(3454-3456)tCg>tTg p.S1152L ABCA12_ENST00000389661.4_Missense_Mutation_p.S834L NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 1152 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GCTGTAGTCCGAAAAATACAG 0.388000 8 69 0 0 1 0 0 SLC41A1 254428 broad.mit.edu 37 1 205766063 205766063 + Missense_Mutation SNP G G T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:205766063G>T ENST00000367137.3 - 8 2075 c.1061C>A c.(1060-1062)cCt>cAt p.P354H SLC41A1_ENST00000468057.1_5'UTR NM_173854.4 NP_776253.3 Q8IVJ1 S41A1_HUMAN solute carrier family 41 (magnesium transporter), member 1 354 integral to membrane|plasma membrane magnesium ion transmembrane transporter activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 17 Breast(84;0.0799) BRCA - Breast invasive adenocarcinoma(75;0.0252) ATTAATCACAGGCGTGAAGAC 0.507000 7 19 0.00307968 0.0030883 1 1 0 TOP1MT 116447 broad.mit.edu 37 8 144408428 144408428 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:144408428G>A ENST00000523676.1 - 5 558 c.153C>T c.(151-153)gcC>gcT p.A51A TOP1MT_ENST00000521193.1_Silent_p.A51A|TOP1MT_ENST00000329245.4_Silent_p.A149A|TOP1MT_ENST00000519148.1_Silent_p.A51A Q969P6 TOP1M_HUMAN topoisomerase (DNA) I, mitochondrial 149 DNA topological change chromosome|mitochondrial nucleoid ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 23 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) TCCGGGCTGCGGCCTTGTCCA 0.587000 52 84 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179606123 179606123 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:179606123G>A ENST00000589042.1 - 48 12061 c.11837C>T c.(11836-11838)cCa>cTa p.P3946L TTN_ENST00000460472.2_Missense_Mutation_p.P3583L|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P3775L|TTN_ENST00000359218.5_Missense_Mutation_p.P3708L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P3629L|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3629 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACAGCGAATTGGTTTTAACTC 0.483000 122 57 0 0 1 0 0 ARAP2 116984 broad.mit.edu 37 4 36189078 36189078 + Missense_Mutation SNP T T G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:36189078T>G ENST00000303965.4 - 8 2162 c.1673A>C c.(1672-1674)aAa>aCa p.K558T NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 558 PH 1. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 CTCACCTTCTTTTTCTACTCT 0.289000 8 9 0 0 1 0 0 USP9X 8239 broad.mit.edu 37 X 41043859 41043859 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:41043859C>T ENST00000324545.7 + 23 4122 c.3489C>T c.(3487-3489)ggC>ggT p.G1163G USP9X_ENST00000378308.2_Silent_p.G1163G NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 1163 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 CTGCCATTGGCTATGGTCATG 0.423000 10 1 0 0 1 0 0 SHE 126669 broad.mit.edu 37 1 154456717 154456717 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:154456717C>T ENST00000304760.2 - 6 1482 c.1396G>A c.(1396-1398)Gaa>Aaa p.E466K NM_001010846.2 NP_001010846.1 Q5VZ18 SHE_HUMAN Src homology 2 domain containing E 466 SH2. breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1) 14 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) TGTACCACTTCAGGGATGCTG 0.443000 4 39 0 0 1 0 0 PPP1R16B 26051 broad.mit.edu 37 20 37536552 37536552 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:37536552G>A ENST00000299824.1 + 9 1191 c.1002G>A c.(1000-1002)cgG>cgA p.R334R PPP1R16B_ENST00000373331.2_Silent_p.R292R NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 334 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) CCTTGAGCCGGAGGACCTCCA 0.602000 23 53 0 0 1 0 0 TRPV6 55503 broad.mit.edu 37 7 142572876 142572876 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:142572876C>T ENST00000359396.3 - 9 1409 c.1164G>A c.(1162-1164)ggG>ggA p.G388G NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 388 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) TCACCAGCTCCCCGACCAGCC 0.562000 21 63 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14542653 14542653 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr18:14542653C>T ENST00000358970.5 - 1 492 c.493G>A c.(493-495)Gac>Aac p.D165N POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 165 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TTGTTCATGTCCGTGTCCCTG 0.592000 44 79 0 0 1 0 0 SYCP1 6847 broad.mit.edu 37 1 115527431 115527431 + Missense_Mutation SNP G G A rs147186440 TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:115527431G>A ENST00000369522.3 + 30 2885 c.2645G>A c.(2644-2646)aGa>aAa p.R882K SYCP1_ENST00000369518.1_Missense_Mutation_p.R882K|SYCP1_ENST00000477590.1_Intron NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 882 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AAAAAAAAGAGAAAAATGGCC 0.254000 13 83 0 0 1 0 0 ADD2 119 broad.mit.edu 37 2 70903897 70903897 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:70903897C>T ENST00000413157.2 - 13 2103 c.1624G>A c.(1624-1626)Gaa>Aaa p.E542K ADD2_ENST00000355733.3_Intron|ADD2_ENST00000264436.3_Intron|ADD2_ENST00000430656.1_Missense_Mutation_p.E558K|ADD2_ENST00000407644.2_Intron NM_017482.3 NP_059516.2 P35612 ADDB_HUMAN adducin 2 (beta) 543 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 AAACACGTTTCCCCGCCAGTC 0.637000 32 11 0 0 1 0 0 SLC16A10 117247 broad.mit.edu 37 6 111543257 111543257 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:111543257G>A ENST00000368850.3 + 5 911 c.425G>A c.(424-426)gGa>gAa p.G142E SLC16A10_ENST00000368851.5_Missense_Mutation_p.G456E Q8TF71 MOT10_HUMAN solute carrier family 16 (aromatic amino acid transporter), member 10 456 aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport basolateral plasma membrane|integral to membrane amino acid transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2) 12 all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466) OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132) TACCTCGCTGGAGTCCCTCCC 0.468000 19 53 0 0 1 0 0 TAOK2 9344 broad.mit.edu 37 16 29999175 29999175 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:29999175C>T ENST00000308893.4 + 16 4625 c.3582C>T c.(3580-3582)atC>atT p.I1194I TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Silent_p.I1081I|TAOK2_ENST00000416441.2_Silent_p.I1021I NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 1194 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CCACCCGAATCCCCCGGCTAC 0.711000 13 15 0 0 1 0 0 INSRR 3645 broad.mit.edu 37 1 156814378 156814378 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:156814378C>T ENST00000368195.3 - 14 3009 c.2613G>A c.(2611-2613)gcG>gcA p.A871A NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 871 Fibronectin type-III 3. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCCCAAACTTCGCATATCGAA 0.597000 19 36 0 0 1 0 0 LILRA2 11027 broad.mit.edu 37 19 55086255 55086255 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:55086255G>A ENST00000251377.3 + 5 543 c.410G>A c.(409-411)gGg>gAg p.G137E LILRA2_ENST00000391737.1_Missense_Mutation_p.G125E|LILRA2_ENST00000251376.3_Missense_Mutation_p.G137E|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.G137E|LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000448689.1_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) ACCTTAGGAGGGAACGTGACC 0.557000 38 81 0 0 1 0 0 CHGA 1113 broad.mit.edu 37 14 93397784 93397784 + Missense_Mutation SNP A A G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:93397784A>G ENST00000216492.5 + 6 825 c.545A>G c.(544-546)aAc>aGc p.N182S CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR NM_001275.3 NP_001266.1 P10645 CMGA_HUMAN chromogranin A (parathyroid secretory protein 1) 182 O-glycosylated at one site only in cerebrospinal fluid. regulation of blood pressure extracellular region|stored secretory granule cervix(1)|large_intestine(1)|lung(3)|skin(3) 8 all_cancers(154;0.0843) Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224) gaggCCACCAACACCCACCCT 0.672000 4 21 0 0 1 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103412838 103412838 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:103412838G>A ENST00000361246.2 - 28 4003 c.3715C>T c.(3715-3717)Ctc>Ttc p.L1239F NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 1239 actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) GCCTTGATGAGAGGCAGCGAG 0.562000 16 17 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152473196 152473196 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:152473196G>A ENST00000367255.5 - 134 24811 c.24210C>T c.(24208-24210)aaC>aaT p.N8070N SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Silent_p.N2594N|SYNE1_ENST00000354674.4_Silent_p.N225N|SYNE1_ENST00000448038.1_Silent_p.N7999N|SYNE1_ENST00000423061.1_Silent_p.N7999N|SYNE1_ENST00000539504.1_Silent_p.N225N|SYNE1_ENST00000265368.4_Silent_p.N8070N|SYNE1_ENST00000341594.5_Silent_p.N7682N NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8070 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AATCAGTGCGGTTCTCCCTGG 0.557000 HNSCC(10;0.0054) 15 31 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63447746 63447746 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:63447746G>A ENST00000322893.7 - 6 1054 c.786C>T c.(784-786)atC>atT p.I262I KCNH5_ENST00000420622.2_Silent_p.I262I|KCNH5_ENST00000394964.2_Silent_p.I204I|KCNH5_ENST00000394968.1_Silent_p.I204I NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 262 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) AATTTAAAACGATGTCAACCA 0.423000 12 36 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27687295 27687295 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:27687295G>A ENST00000438700.3 - 4 2349 c.2232C>T c.(2230-2232)atC>atT p.I744I NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 744 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 GGGAAGAAATGATTTCATTTG 0.308000 21 2 0 0 1 0 0 TRIM42 287015 broad.mit.edu 37 3 140401926 140401926 + Missense_Mutation SNP G G A rs149885263 TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:140401926G>A ENST00000286349.3 + 2 1155 c.964G>A c.(964-966)Gac>Aac p.D322N NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 322 intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 CAATGGCCACGACACCATTAG 0.557000 33 30 0 0 1 0 0 B4GALNT1 2583 broad.mit.edu 37 12 58024787 58024787 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:58024787G>A ENST00000341156.4 - 4 1050 c.466C>T c.(466-468)Ccc>Tcc p.P156S B4GALNT1_ENST00000552350.1_Missense_Mutation_p.P156S|B4GALNT1_ENST00000449184.3_Missense_Mutation_p.P156S|B4GALNT1_ENST00000550764.1_Missense_Mutation_p.P156S|B4GALNT1_ENST00000418555.2_Missense_Mutation_p.P101S NM_001478.3 NP_001469.1 Q00973 B4GN1_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 1 156 lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1) 20 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) CTCCTGAGGGGCTGAACTTCC 0.632000 15 19 0 0 1 0 0 PTK7 5754 broad.mit.edu 37 6 43109933 43109933 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:43109933C>T ENST00000230419.4 + 13 2164 c.1943C>T c.(1942-1944)tCc>tTc p.S648F PTK7_ENST00000481273.1_Missense_Mutation_p.S656F|PTK7_ENST00000352931.2_Intron|PTK7_ENST00000349241.2_Missense_Mutation_p.S518F|PTK7_ENST00000345201.2_Missense_Mutation_p.S608F NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 648 Ig-like C2-type 7. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) CAGAATGGCTCCCTGGTGATC 0.627000 52 32 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146805363 146805363 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:146805363C>T ENST00000361727.3 + 5 1191 c.675C>T c.(673-675)atC>atT p.I225I NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 225 Laminin G-like 1. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) AAGGAGTAATCCTGCACGGAG 0.403000 HNSCC(39;0.1) 18 12 0 0 1 0 0 PIP5K1C 23396 broad.mit.edu 37 19 3656499 3656499 + Silent SNP G G A rs144166425 TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:3656499G>A ENST00000335312.3 - 6 613 c.525C>T c.(523-525)tcC>tcT p.S175S PIP5K1C_ENST00000589578.1_Silent_p.S175S|PIP5K1C_ENST00000537021.1_Silent_p.S175S|PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000539785.1_Silent_p.S175S NM_001195733.1|NM_012398.2 NP_001182662.1|NP_036530.1 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, gamma 175 PIPK. axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding large_intestine(3)|ovary(1)|skin(3)|stomach(2) 9 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) CGTAGAAGAGGGAGCCACTGG 0.622000 18 51 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48619145 48619145 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:48619145C>T ENST00000328333.8 - 48 4823 c.4716G>A c.(4714-4716)ggG>ggA p.G1572G COL7A1_ENST00000454817.1_Silent_p.G1572G NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1572 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TTACCCGTTCCCCTTGGACTC 0.582000 25 108 0 0 1 0 0 TSIX 9383 broad.mit.edu 37 X 73047456 73047456 + RNA SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:73047456G>A ENST00000604411.1 + 0 35417 XIST_ENST00000429829.1_lincRNA NR_003255.2 TAAAACGAACGAGAAGGGGAA 0.398000 9 0 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43905651 43905651 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:43905651C>T ENST00000562955.1 + 50 6971 c.6971C>T c.(6970-6972)gCc>gTc p.A2324V SZT2_ENST00000372442.1_Missense_Mutation_p.A1482V NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2381 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 GCTCGCCAGGCCCTGGCCGAT 0.572000 36 55 0 0 1 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54537682 54537682 + Splice_Site SNP G G T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:54537682G>T ENST00000474759.1 + 5 592 c.e5+1 CACNA2D3_ENST00000288197.5_Splice_Site|CACNA2D3_ENST00000490478.1_Splice_Site|CACNA2D3_ENST00000415676.2_Splice_Site NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) TACAACAAAGGTAAGACTCCC 0.428000 5 14 0.014758 0.014791 1 1 0 PIEZO2 63895 broad.mit.edu 37 18 10680308 10680308 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr18:10680308C>T ENST00000302079.6 - 47 7311 c.7312G>A c.(7312-7314)Gga>Aga p.G2438R PIEZO2_ENST00000503781.3_Missense_Mutation_p.G2501R|PIEZO2_ENST00000538948.1_Missense_Mutation_p.G458R|PIEZO2_ENST00000580640.1_Missense_Mutation_p.G2526R|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000285141.4_Missense_Mutation_p.G293R Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2501 integral to membrane ion channel activity TTTGAGTTTCCTTCCAGTTCT 0.388000 20 21 0 0 1 0 0 USP6 9098 broad.mit.edu 37 17 5058900 5058900 + Splice_Site SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:5058900C>T ENST00000574788.1 + 31 5057 c.2828_splice c.e31+1 p.R943_splice USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Splice_Site_p.R626_splice|USP6_ENST00000250066.6_Splice_Site_p.R943_splice P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 943 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 TGCCCAGGATCGGTGAGTTCA 0.448000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 40 5 0 0 1 0 0 TBX10 347853 broad.mit.edu 37 11 67399163 67399163 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:67399163C>T ENST00000335385.3 - 8 1158 c.1071G>A c.(1069-1071)agG>agA p.R357R NM_005995.4 NP_005986.2 O75333 TBX10_HUMAN T-box 10 357 anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|lung(4)|ovary(1) 7 CTCCTTGATCCCTATCAGCCC 0.652000 5 8 0 0 1 0 0 ATMIN 23300 broad.mit.edu 37 16 81077931 81077931 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:81077931C>T ENST00000566488.1 + 3 2323 c.1360C>T c.(1360-1362)Cgt>Tgt p.R454C ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.R454C|ATMIN_ENST00000299575.4_Missense_Mutation_p.R610C O43313 ATMIN_HUMAN ATM interactor 610 response to DNA damage stimulus nucleus zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 20 ATTGGATCATCGTAGTCTTTT 0.433000 21 19 0 0 1 0 0 SRD5A3 79644 broad.mit.edu 37 4 56230311 56230311 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:56230311C>T ENST00000264228.4 + 3 663 c.435C>T c.(433-435)ttC>ttT p.F145F SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3_ENST00000514398.1_3'UTR NM_024592.4 NP_078868.1 Q9H8P0 PORED_HUMAN steroid 5 alpha-reductase 3 145 androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process endoplasmic reticulum membrane|integral to membrane 3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor p.F145F(2) cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 12 all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.0179) GAAGACTCTTCGAGTGCCTCT 0.478000 21 65 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38885853 38885853 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:38885853C>T ENST00000359357.3 + 68 10064 c.9810C>T c.(9808-9810)ctC>ctT p.L3270L DNAH8_ENST00000449981.2_Silent_p.L3487L|DNAH8_ENST00000441566.1_Silent_p.L3234L dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TGGCTGGTCTCCTGTCTTGGA 0.368000 12 38 0 0 1 0 0 ZMYM2 7750 broad.mit.edu 37 13 20625720 20625720 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr13:20625720C>T ENST00000382869.3 + 13 2691 c.2440C>T c.(2440-2442)Cct>Tct p.P814S ZMYM2_ENST00000382874.2_Missense_Mutation_p.P814S|ZMYM2_ENST00000382883.3_Missense_Mutation_p.P296S|ZMYM2_ENST00000382870.2_Missense_Mutation_p.P194S|ZMYM2_ENST00000382871.2_Missense_Mutation_p.P814S NM_001190965.1|NM_003453.3|NM_197968.2 NP_001177894.1|NP_003444.1|NP_932072.1 Q9UBW7 ZMYM2_HUMAN zinc finger, MYM-type 2 814 regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body ubiquitin conjugating enzyme binding|zinc ion binding large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856) TCAGAAAGGACCTGAAAACTT 0.373000 16 14 0 0 1 0 0 HAVCR1 26762 broad.mit.edu 37 5 156479463 156479463 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:156479463C>T ENST00000339252.3 - 3 1114 c.582G>A c.(580-582)acG>acA p.T194T HAVCR1_ENST00000544197.1_Silent_p.T194T|HAVCR1_ENST00000425854.1_Silent_p.T194T|HAVCR1_ENST00000522693.1_Silent_p.T194T|HAVCR1_ENST00000523175.1_Silent_p.T194T NM_012206.2 NP_036338.2 Q96D42 HAVR1_HUMAN hepatitis A virus cellular receptor 1 189 11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich. interspecies interaction between organisms integral to membrane receptor activity p.T194T(1) endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTGGAATGCTCGTTGTCGTTG 0.463000 175 49 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3423084 3423084 + RNA SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:3423084C>T ENST00000529482.1 + 0 673 CACGCACTCTCCGTTCAGGGC 0.587000 10 9 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20976118 20976118 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:20976118C>T ENST00000261383.3 - 53 9087 c.9088G>A c.(9088-9090)Gac>Aac p.D3030N DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3030 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) ATGACCTTGTCCTTACATTCA 0.527000 12 28 0 0 1 0 0 OR10G8 219869 broad.mit.edu 37 11 123901064 123901064 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:123901064C>T ENST00000431524.1 + 1 768 c.735C>T c.(733-735)atC>atT p.I245I NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I245I(1) breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) CCCACTGTATCGTGGTCCTTT 0.537000 16 43 0 0 1 0 0 ZNF714 148206 broad.mit.edu 37 19 21300279 21300279 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:21300279C>T ENST00000596143.1 + 5 1134 c.809C>T c.(808-810)gCc>gTc p.A270V ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000596053.1_Intron NM_182515.3 NP_872321.2 Q96N38 ZN714_HUMAN zinc finger protein 714 271 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|urinary_tract(2) 18 CACCCTTCAGCCCTTACTACA 0.358000 4 19 0 0 1 0 0 ARHGEF26 26084 broad.mit.edu 37 3 153840463 153840463 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:153840463C>T ENST00000356448.4 + 2 966 c.682C>T c.(682-684)Ctc>Ttc p.L228F ARHGEF26_ENST00000465093.1_Missense_Mutation_p.L228F|ARHGEF26_ENST00000465817.1_Missense_Mutation_p.L228F NM_001251962.1 NP_001238891.1 Q96DR7 ARHGQ_HUMAN Rho guanine nucleotide exchange factor (GEF) 26 228 regulation of Rho protein signal transduction intracellular|ruffle Rho guanyl-nucleotide exchange factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 23 GAACGAGCTCCTCGAGAATCC 0.557000 11 13 0 0 1 0 0 AMICA1 120425 broad.mit.edu 37 11 118081247 118081247 + Missense_Mutation SNP A A T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:118081247A>T ENST00000292067.7 - 3 790 c.349T>A c.(349-351)Ttc>Atc p.F117I AMICA1_ENST00000526620.1_Missense_Mutation_p.F88I|AMICA1_ENST00000533261.1_Missense_Mutation_p.F127I|AMICA1_ENST00000356289.5_Missense_Mutation_p.F127I NM_153206.2 NP_694938.2 Q86YT9 JAML1_HUMAN adhesion molecule, interacts with CXADR antigen 1 127 Ig-like V-type 1. blood coagulation|cell adhesion|leukocyte migration|regulation of immune response cell junction|integral to membrane central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2) 20 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) GCCTTCTTGAACACCTGGCTC 0.517000 12 29 0 0 1 0 0 PCDHA13 56136 broad.mit.edu 37 5 140263981 140263981 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:140263981C>T ENST00000289272.2 + 1 2128 c.2128C>T c.(2128-2130)Ctg>Ttg p.L710L PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.L710L|PCDHA8_ENST00000531613.1_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGTCCAGCCTGTTGGTGCT 0.647000 70 27 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072808 17072808 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:17072808C>T ENST00000359963.3 - 1 892 c.633G>A c.(631-633)ggG>ggA p.G211G NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 211 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CCTCCAGTGTCCCCCCGGGCA 0.607000 41 67 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131912262 131912262 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:131912262G>A ENST00000359827.3 - 7 2792 c.1830C>T c.(1828-1830)atC>atT p.I610I PLXNA4_ENST00000321063.4_Silent_p.I610I Q9HCM2 PLXA4_HUMAN plexin A4 610 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 AGTAGCACTGGATCTGATTGC 0.587000 22 19 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43905575 43905575 + Nonsense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:43905575C>T ENST00000562955.1 + 50 6895 c.6895C>T c.(6895-6897)Cga>Tga p.R2299* SZT2_ENST00000372442.1_Nonsense_Mutation_p.R1457* NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2356 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 CCCACGGCTTCGATTGGATGT 0.562000 13 60 0 0 1 0 0 SMPD4 55627 broad.mit.edu 37 2 130910667 130910667 + Silent SNP G G A rs146485657 byFrequency TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:130910667G>A ENST00000409031.1 - 19 3368 c.2220C>T c.(2218-2220)atC>atT p.I740I SMPD4_ENST00000452225.2_Silent_p.I481I|SMPD4_ENST00000431183.2_Silent_p.I638I|SMPD4_ENST00000339679.7_Silent_p.I598I|SMPD4_ENST00000351288.6_Silent_p.I711I|SMPD4_ENST00000426662.2_Silent_p.I376I|SMPD4_ENST00000443958.2_Silent_p.I404I|SMPD4_ENST00000453750.1_Silent_p.I489I NM_017951.4 NP_060421.2 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) 701 sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Colorectal(110;0.1) Phosphatidylserine(DB00144) CCAAGCTGGCGATCTCATAGC 0.572000 22 99 0 0 1 0 0 SLC26A9 115019 broad.mit.edu 37 1 205890814 205890814 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:205890814G>A ENST00000367135.3 - 17 2048 c.1935C>T c.(1933-1935)gcC>gcT p.A645A SLC26A9_ENST00000340781.4_Silent_p.A645A|SLC26A9_ENST00000367134.2_Silent_p.A645A NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 645 STAS. integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) GCTCGCCGGGGGCCTCAGCGG 0.627000 12 2 0 0 1 0 0 CTHRC1 115908 broad.mit.edu 37 8 104394720 104394720 + Silent SNP A A G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:104394720A>G ENST00000330295.5 + 4 766 c.624A>G c.(622-624)ttA>ttG p.L208L CTHRC1_ENST00000520337.1_Silent_p.L194L|CTHRC1_ENST00000520880.1_Silent_p.L78L NM_138455.3 NP_612464.1 Q96CG8 CTHR1_HUMAN collagen triple helix repeat containing 1 208 collagen endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197) GTGCTGGATTAGTGGATGTTG 0.373000 79 83 0 0 1 0 0 FBLN1 2192 broad.mit.edu 37 22 45960844 45960844 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:45960844G>A ENST00000348697.2 + 15 1925 c.1778G>A c.(1777-1779)gGg>gAg p.G593E FBLN1_ENST00000442170.2_Missense_Mutation_p.G593E|FBLN1_ENST00000327858.6_Intron P23142 FBLN1_HUMAN fibulin 1 589 interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TGGAAGCAGGGGTTGGAGGAT 0.552000 16 12 0 0 1 0 0 CD6 923 broad.mit.edu 37 11 60785414 60785414 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:60785414C>T ENST00000313421.7 + 11 1952 c.1766C>T c.(1765-1767)tCt>tTt p.S589F CD6_ENST00000344028.5_Missense_Mutation_p.S557F|CD6_ENST00000452451.2_Missense_Mutation_p.S548F|CD6_ENST00000346437.4_Missense_Mutation_p.S516F|CD6_ENST00000352009.5_Missense_Mutation_p.S557F NM_006725.4 NP_006716.3 P30203 CD6_HUMAN CD6 molecule 589 cell adhesion cell surface|integral to plasma membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1) 18 CAGGTGTTTTCTTCAGAGAGG 0.572000 26 54 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73963876 73963876 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:73963876C>T ENST00000373468.1 - 3 1167 c.516G>A c.(514-516)agG>agA p.R172R KIAA2022_ENST00000055682.5_Silent_p.R172R Q5QGS0 K2022_HUMAN KIAA2022 172 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TTTCATAATCCCTATTTAGAT 0.453000 30 5 0 0 1 0 0 FKBP5 2289 broad.mit.edu 37 6 35565179 35565179 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:35565179G>A ENST00000542713.1 - 6 668 c.511C>T c.(511-513)Cac>Tac p.H171Y FKBP5_ENST00000539068.1_Missense_Mutation_p.H171Y|FKBP5_ENST00000540787.1_5'UTR|FKBP5_ENST00000357266.4_Missense_Mutation_p.H171Y|FKBP5_ENST00000536438.1_Missense_Mutation_p.H171Y NM_001145777.1 NP_001139249.1 Q13451 FKBP5_HUMAN FK506 binding protein 5 171 PPIase FKBP-type 2. protein folding cytoplasm|membrane|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2) 17 CCTTCCAGGTGGACTGAGGGC 0.488000 13 38 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32753925 32753925 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr13:32753925C>T ENST00000380250.3 + 23 3481 c.2985C>T c.(2983-2985)tcC>tcT p.S995S NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 995 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) GAACAAATTCCCTTGTTTTCA 0.388000 32 65 0 0 1 0 0 LGSN 51557 broad.mit.edu 37 6 63990693 63990693 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:63990693C>T ENST00000370657.4 - 4 796 c.763G>A c.(763-765)Gag>Aag p.E255K LGSN_ENST00000370658.5_Intron Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 255 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) GAAAAACTCTCGACATTGGCT 0.418000 9 17 0 0 1 0 0 ATF4P4 100127952 broad.mit.edu 37 11 113660422 113660422 + RNA SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:113660422G>A ENST00000393544.2 + 0 470 ACCTGTGTGAGAAAGACCTGA 0.567000 8 7 0 0 1 0 0 SNTG2 54221 broad.mit.edu 37 2 1079206 1079206 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:1079206G>A ENST00000308624.5 + 2 204 c.75G>A c.(73-75)acG>acA p.T25T SNTG2_ENST00000407292.1_Silent_p.T25T NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 25 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding p.T25T(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) CCCTACAGACGAAAACCACTA 0.478000 42 24 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43846406 43846406 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:43846406C>T ENST00000389420.3 - 13 1852 c.1853G>A c.(1852-1854)cGa>cAa p.R618Q ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R618Q NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 618 Cys-rich. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CTGCTTCTCTCGAAAGTCTTG 0.423000 6 20 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35740308 35740308 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:35740308C>T ENST00000440995.2 + 23 3254 c.3254C>T c.(3253-3255)tCc>tTc p.S1085F CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.S1090F Q9C093 SPEF2_HUMAN sperm flagellar 2 1090 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GATTTCAACTCCCTTCCTGAT 0.438000 84 14 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166847987 166847987 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:166847987C>T ENST00000423058.2 - 26 5815 c.5798G>A c.(5797-5799)cGa>cAa p.R1933Q SCN1A_ENST00000303395.4_Missense_Mutation_p.R1933Q|SCN1A_ENST00000375405.3_Missense_Mutation_p.R1922Q|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.R1905Q|AC010127.3_ENST00000597623.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1933 voltage-gated sodium channel complex voltage-gated sodium channel activity p.R1922Q(1) NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TTTTACAGTTCGCTTTAAAAG 0.353000 30 44 0 0 1 0 0 ATF5 22809 broad.mit.edu 37 19 50436081 50436081 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:50436081C>T ENST00000423777.2 + 3 958 c.581C>T c.(580-582)cCt>cTt p.P194L CTC-326K19.6_ENST00000451973.1_Intron|ATF5_ENST00000595125.1_Missense_Mutation_p.P194L NM_001193646.1 NP_001180575.1 Q9Y2D1 ATF5_HUMAN activating transcription factor 5 194 Interaction with PTP4A1 (By similarity).|Poly-Pro. regulation of transcription from RNA polymerase II promoter cytoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity NS(1)|endometrium(2)|large_intestine(1)|skin(3) 7 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017) CCACCTCAACCTTCTCGCCTG 0.657000 3 6 0 0 1 0 0 NUP98 4928 broad.mit.edu 37 11 3712680 3712680 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:3712680G>A ENST00000324932.7 - 28 4771 c.4351C>T c.(4351-4353)Cct>Tct p.P1451S NUP98_ENST00000359171.4_Missense_Mutation_p.P1451S|NUP98_ENST00000355260.3_Missense_Mutation_p.P1451S NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1468 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity p.P1451S(1) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) AGATACGAAGGAAGTGGGGAG 0.428000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 5 22 0 0 1 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146488 70146488 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:70146488C>T ENST00000335568.5 + 1 272 c.270C>T c.(268-270)atC>atT p.I90I UGT2B28_ENST00000511240.1_Silent_p.I90I NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 90 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) AGAATATCATCATGCAACAGG 0.328000 26 19 0 0 1 0 0 SPON1 10418 broad.mit.edu 37 11 14277324 14277324 + RNA SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:14277324C>T ENST00000310358.7 + 0 1759 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) TCGAGAGAATCGCACGGAAGG 0.537000 10 24 0 0 1 0 0 COL8A1 1295 broad.mit.edu 37 3 99513481 99513481 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:99513481G>A ENST00000261037.3 + 5 1116 c.736G>A c.(736-738)Ggg>Agg p.G246R COL8A1_ENST00000273342.4_Missense_Mutation_p.G246R NM_001850.4 NP_001841.2 P27658 CO8A1_HUMAN collagen, type VIII, alpha 1 246 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 CAAGGGCTTCGGGATGCCAGG 0.627000 28 98 0 0 1 0 0 NEUROD1 4760 broad.mit.edu 37 2 182543375 182543375 + Silent SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:182543375T>C ENST00000295108.3 - 2 670 c.213A>G c.(211-213)gaA>gaG p.E71E CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron NM_002500.4 NP_002491.2 Q13562 NDF1_HUMAN neuronal differentiation 1 71 Glu-rich (acidic).|Poly-Glu. amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) cctcttcctcttcttcctcct 0.532000 8 25 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176659435 176659435 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:176659435C>T ENST00000367662.3 + 5 3464 c.2300C>T c.(2299-2301)aCg>aTg p.T767M PAPPA2_ENST00000367661.3_Missense_Mutation_p.T767M NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 767 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 TCCATGGAAACGGGAGACCTC 0.567000 94 51 0 0 1 0 0 BTN3A3 10384 broad.mit.edu 37 6 26448586 26448586 + Missense_Mutation SNP G G C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:26448586G>C ENST00000244519.2 + 6 1069 c.826G>C c.(826-828)Gaa>Caa p.E276Q BTN3A3_ENST00000361232.3_Missense_Mutation_p.E234Q|BTN3A3_ENST00000339789.4_Missense_Mutation_p.E234Q NM_006994.4 NP_008925.1 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 276 integral to membrane cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 ACAACAGAAGGAAAAAATTGC 0.532000 7 67 0 0 1 0 0 KIF1B 23095 broad.mit.edu 37 1 10364096 10364096 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:10364096C>T ENST00000377093.4 + 21 3006 c.2853C>T c.(2851-2853)atC>atT p.I951I KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Silent_p.I951I|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000263934.6_Intron NM_183416.3 NP_904325.2 O60333 KIF1B_HUMAN kinesin family member 1B 0 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding p.I951I(1) breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) ATAGGTTCATCCCTCCTGAGA 0.488000 21 119 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26414335 26414335 + Missense_Mutation SNP T T A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:26414335T>A ENST00000265944.5 + 19 2078 c.1912T>A c.(1912-1914)Ttg>Atg p.L638M MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 638 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 AGGTGCTTCTTTGCTTTGCAT 0.408000 22 4 0 0 1 0 0 ANKFN1 162282 broad.mit.edu 37 17 54526448 54526448 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:54526448G>A ENST00000566473.2 + 10 1117 c.1117G>A c.(1117-1119)Gac>Aac p.D373N ANKFN1_ENST00000318698.2_Missense_Mutation_p.D373N Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 373 NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 AGACTGGAAAGACTATGACGA 0.488000 28 7 0 0 1 0 0 ROBO4 54538 broad.mit.edu 37 11 124765416 124765416 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:124765416G>A ENST00000306534.3 - 6 1458 c.973C>T c.(973-975)Cca>Tca p.P325S ROBO4_ENST00000533054.1_Missense_Mutation_p.P180S NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 325 Fibronectin type-III 1. angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) CCAGAGGATGGTCTCACTTTG 0.632000 20 60 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22661206 22661206 + RNA SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:22661206T>C ENST00000426066.1 + 0 298 NR_027293.1 AGCTGAATCATGCAGAATTTG 0.408000 7 45 0 0 1 0 0 OR13C3 138803 broad.mit.edu 37 9 107298801 107298801 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:107298801G>A ENST00000374781.2 - 1 336 c.294C>T c.(292-294)ttC>ttT p.F98F NM_001001961.1 NP_001001961.1 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, member 3 98 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 AGATATCCAGGAAAGAGAGGT 0.413000 13 32 0 0 1 0 0 CDCP1 64866 broad.mit.edu 37 3 45152210 45152210 + Missense_Mutation SNP A A T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:45152210A>T ENST00000296129.1 - 4 913 c.779T>A c.(778-780)cTg>cAg p.L260Q CDCP1_ENST00000425231.2_Missense_Mutation_p.L260Q NM_022842.3 NP_073753.3 Q9H5V8 CDCP1_HUMAN CUB domain containing protein 1 260 extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) GCTGGCCCGCAGGTGTGCAGG 0.572000 34 100 0 0 1 0 0 CSAD 51380 broad.mit.edu 37 12 53566413 53566413 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:53566413G>A ENST00000267085.4 - 5 460 c.227C>T c.(226-228)cCt>cTt p.P76L CSAD_ENST00000379846.1_Intron|CSAD_ENST00000542115.1_Missense_Mutation_p.P49L|CSAD_ENST00000491654.1_5'UTR|CSAD_ENST00000453446.2_Missense_Mutation_p.P49L|CSAD_ENST00000379843.3_Intron|CSAD_ENST00000444623.1_Missense_Mutation_p.P49L NM_001244706.1|NM_015989.4 NP_001231635.1|NP_057073.4 Q9Y600 CSAD_HUMAN cysteine sulfinic acid decarboxylase 49 carboxylic acid metabolic process pyridoxal phosphate binding|sulfinoalanine decarboxylase activity kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4) 14 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) CAGCTCCTCAGGCTCCTTCCA 0.607000 5 6 0 0 1 0 0 CERKL 375298 broad.mit.edu 37 2 182521722 182521722 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:182521722C>T ENST00000410087.3 - 1 112 c.12G>A c.(10-12)agG>agA p.R4R CERKL_ENST00000374970.2_Silent_p.R4R|CERKL_ENST00000409440.3_Silent_p.R4R|CERKL_ENST00000339098.5_Silent_p.R4R|CERKL_ENST00000479558.1_Intron|CERKL_ENST00000374969.2_Silent_p.R4R NM_001030311.2|NM_201548.4 NP_001025482.1|NP_963842.1 Q49MI3 CERKL_HUMAN ceramide kinase-like 4 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|Golgi apparatus|nucleolus diacylglycerol kinase activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) TCCTGCGCCTCCTCCAGGGCA 0.746000 9 11 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42795611 42795611 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:42795611C>T ENST00000572681.2 + 11 5486 c.5418C>T c.(5416-5418)ccC>ccT p.P1806P CIC_ENST00000160740.3_Silent_p.P897P|CIC_ENST00000575354.2_Silent_p.P897P Q96RK0 CIC_HUMAN capicua transcriptional repressor 897 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CCGCCCCACCCCCCAAAGGTG 0.617000 """Mis, F, S""" oligodendroglioma 48 55 0 0 1 0 0 PRIM2 5558 broad.mit.edu 37 6 57246934 57246934 + Nonsense_Mutation SNP G G T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:57246934G>T ENST00000607273.1 + 7 748 c.661G>T c.(661-663)Gaa>Taa p.E221* PRIM2_ENST00000389488.2_3'UTR NM_000947.2 NP_000938.2 P49643 PRI2_HUMAN primase, DNA, polypeptide 2 (58kDa) 221 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1) 59 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) CATCCTGAATGAATTTAGAGC 0.393000 6 51 8.12818e-05 8.1738e-05 1 1 0 EP400 57634 broad.mit.edu 37 12 132496054 132496054 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:132496054C>T ENST00000333577.4 + 17 3533 c.3424C>T c.(3424-3426)Ccc>Tcc p.P1142S EP400_ENST00000332482.4_Missense_Mutation_p.P1069S|EP400_ENST00000389561.2_Missense_Mutation_p.P1106S|EP400_ENST00000330386.6_Missense_Mutation_p.P1106S|EP400_ENST00000389562.2_Missense_Mutation_p.P1105S Q96L91 EP400_HUMAN E1A binding protein p400 1142 Helicase ATP-binding.|Interactions with RUVBL1 and RUVBL2. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) TAATTGGGGCCCCCATCTTGT 0.453000 19 33 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100568703 100568703 + Nonsense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:100568703C>T ENST00000358544.2 + 31 4957 c.4846C>T c.(4846-4848)Cga>Tga p.R1616* VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Nonsense_Mutation_p.R1591* NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1616 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) AGGAATTCTTCGAGATCCTGG 0.358000 11 20 0 0 1 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 104961395 104961395 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:104961395G>A ENST00000372582.1 + 7 1564 c.808G>A c.(808-810)Gga>Aga p.G270R IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.G270R NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 270 Ig-like C2-type 3. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 AGCATTCTTCGGATTCAGTGG 0.438000 57 8 0 0 1 0 0 PRPF4B 8899 broad.mit.edu 37 6 4041149 4041149 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:4041149C>T ENST00000337659.6 + 4 1656 c.1556C>T c.(1555-1557)tCg>tTg p.S519L PRPF4B_ENST00000538861.1_Missense_Mutation_p.S505L NM_003913.4 NP_003904.3 Q13523 PRP4B_HUMAN pre-mRNA processing factor 4B 519 catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 22 Ovarian(93;0.0925) all_hematologic(90;0.0895) CAGGAATCTTCGTCTGATGAT 0.358000 23 55 0 0 1 0 0 KRBA1 84626 broad.mit.edu 37 7 149430970 149430970 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:149430970C>T ENST00000255992.10 + 18 3323 c.2924C>T c.(2923-2925)cCt>cTt p.P975L KRBA1_ENST00000485033.2_Missense_Mutation_p.P915L|KRBA1_ENST00000319551.8_Missense_Mutation_p.P915L|KRBA1_ENST00000479560.1_3'UTR NM_032534.2 NP_115923.2 A5PL33 KRBA1_HUMAN KRAB-A domain containing 1 976 Pro-rich. breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1) 27 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGAGCCTCTCCTCCTGCAGCC 0.687000 3 11 0 0 1 0 0 FAM90A1 55138 broad.mit.edu 37 12 8374645 8374645 + Nonsense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:8374645G>A ENST00000538603.1 - 7 1726 c.1168C>T c.(1168-1170)Cag>Tag p.Q390* FAM90A1_ENST00000307435.6_Nonsense_Mutation_p.Q390* NM_018088.3 NP_060558.3 Q86YD7 F90A1_HUMAN family with sequence similarity 90, member A1 390 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) CTGAGAGGCTGGGCCCCATCA 0.647000 20 18 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3238337 3238337 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:3238337C>T ENST00000217939.6 - 5 5543 c.5389G>A c.(5389-5391)Gga>Aga p.G1797R NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1797 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GAGGGTGATCCCGTGGTCTGC 0.493000 22 1 0 0 1 0 0 NUMA1 4926 broad.mit.edu 37 11 71717120 71717120 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:71717120G>A ENST00000393695.3 - 22 5984 c.5653C>T c.(5653-5655)Cgt>Tgt p.R1885C NUMA1_ENST00000358965.6_Missense_Mutation_p.R1871C|NUMA1_ENST00000351960.6_Missense_Mutation_p.R749C NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1885 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 TGGGAACGACGAGCAGAACTG 0.602000 T RARA APL 53 53 0 0 1 0 0 TAL1 6886 broad.mit.edu 37 1 47685498 47685498 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:47685498C>T ENST00000371883.3 - 4 1472 c.896G>A c.(895-897)gGg>gAg p.G299E TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371884.2_Missense_Mutation_p.G297E|TAL1_ENST00000294339.3_Missense_Mutation_p.G297E P17542 TAL1_HUMAN T-cell acute lymphocytic leukemia 1 297 basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 15 GCTGGCTGCCCCATCCAGGGA 0.721000 T """TRD@, SIL""" lymphoblastic leukemia/biphasic 77 27 0 0 1 0 0 C10orf71 118461 broad.mit.edu 37 10 50532584 50532584 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:50532584C>T ENST00000374144.3 + 3 2282 c.1994C>T c.(1993-1995)aCc>aTc p.T665I C10orf71_ENST00000323868.4_Missense_Mutation_p.T665I Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 665 endometrium(1) 1 AAAATGAAGACCCACCAGCTA 0.527000 20 4 0 0 1 0 0 ZNF335 63925 broad.mit.edu 37 20 44590753 44590753 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:44590753G>A ENST00000322927.2 - 10 1702 c.1602C>T c.(1600-1602)taC>taT p.Y534Y ZNF335_ENST00000426788.1_Silent_p.Y379Y NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 534 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) CGTCCTTCCGGTAGACACTGG 0.622000 103 87 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129781471 129781471 + Splice_Site SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:129781471T>C ENST00000421865.2 + 49 7041 c.e49+2 NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CACTGTCAGGTTAGTTGAGAT 0.408000 35 27 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10360776 10360776 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:10360776G>A ENST00000255381.2 - 16 1968 c.1858C>T c.(1858-1860)Ctg>Ttg p.L620L CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 620 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 AGGAAAGCCAGAGTCTTCATT 0.478000 36 14 0 0 1 0 0 SORBS2 8470 broad.mit.edu 37 4 186536215 186536215 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:186536215G>A ENST00000431808.1 - 17 3301 c.2738C>T c.(2737-2739)cCg>cTg p.P913L SORBS2_ENST00000355634.5_Missense_Mutation_p.P1013L|SORBS2_ENST00000448662.2_Missense_Mutation_p.P474L|SORBS2_ENST00000284776.7_Missense_Mutation_p.P913L|SORBS2_ENST00000319471.9_Missense_Mutation_p.P544L|SORBS2_ENST00000418609.1_Missense_Mutation_p.P817L|SORBS2_ENST00000449407.2_Missense_Mutation_p.P457L|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000393528.3_Missense_Mutation_p.P479L|SORBS2_ENST00000437304.2_Missense_Mutation_p.P637L O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 913 SH3 1. actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) GTATGAGATCGGGAAGATGCC 0.443000 25 24 0 0 1 0 0 C19orf18 147685 broad.mit.edu 37 19 58485727 58485727 + Missense_Mutation SNP G G A rs150585544 TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:58485727G>A ENST00000314391.3 - 1 175 c.74C>T c.(73-75)cCg>cTg p.P25L NM_152474.4 NP_689687.1 Q8NEA5 CS018_HUMAN chromosome 19 open reading frame 18 25 integral to membrane large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 8 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017) ATCTGCATACGGCAAGCATAA 0.398000 39 25 0 0 1 0 0 ESPL1 9700 broad.mit.edu 37 12 53683083 53683083 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:53683083C>T ENST00000257934.4 + 21 5009 c.4918C>T c.(4918-4920)Ctc>Ttc p.L1640F ESPL1_ENST00000552462.1_Missense_Mutation_p.L1640F NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 1640 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 CCACAGACAGCTCAGGTGGGT 0.597000 21 56 0 0 1 0 0 RGS6 9628 broad.mit.edu 37 14 72818806 72818806 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:72818806G>A ENST00000553530.1 + 3 295 c.88G>A c.(88-90)Gaa>Aaa p.E30K RGS6_ENST00000406236.4_Missense_Mutation_p.E30K|RGS6_ENST00000556437.1_Missense_Mutation_p.E30K|RGS6_ENST00000402788.2_Missense_Mutation_p.E30K|RGS6_ENST00000555571.1_Missense_Mutation_p.E30K|RGS6_ENST00000355512.6_Missense_Mutation_p.E30K|RGS6_ENST00000553525.1_Missense_Mutation_p.E30K|RGS6_ENST00000343854.6_Missense_Mutation_p.E30K|RGS6_ENST00000404301.2_Missense_Mutation_p.E30K|RGS6_ENST00000407322.4_Missense_Mutation_p.E30K NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5 NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3 P49758 RGS6_HUMAN regulator of G-protein signaling 6 30 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) CTTTCAGATTGAAGACATCAT 0.378000 5 15 0 0 1 0 0 KIAA1429 25962 broad.mit.edu 37 8 95541354 95541354 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:95541354G>A ENST00000297591.5 - 7 899 c.824C>T c.(823-825)cCt>cTt p.P275L KIAA1429_ENST00000421249.2_Missense_Mutation_p.P275L|KIAA1429_ENST00000437199.1_Missense_Mutation_p.P275L NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 275 Glu-rich. mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) ttcctcctcAGGAATACTGTC 0.438000 14 19 0 0 1 0 0 TBX20 57057 broad.mit.edu 37 7 35280490 35280490 + Splice_Site SNP C C T rs3999940 TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:35280490C>T ENST00000408931.3 - 5 1340 c.e5+1 NM_001077653.2|NM_001166220.1 NP_001071121.1|NP_001159692.1 Q9UMR3 TBX20_HUMAN T-box 20 nucleus DNA binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1) 18 TGTACACTCACCAGTTGATTC 0.398000 8 30 0 0 1 0 0 CYP27A1 1593 broad.mit.edu 37 2 219679735 219679735 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:219679735C>T ENST00000258415.4 + 9 2005 c.1578C>T c.(1576-1578)ttC>ttT p.F526F NM_000784.3 NP_000775.1 Q02318 CP27A_HUMAN cytochrome P450, family 27, subfamily A, polypeptide 1 526 bile acid biosynthetic process|xenobiotic metabolic process mitochondrial matrix cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1) 26 Renal(207;0.0474) Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981) Cholecalciferol(DB00169) GCCTGCAGTTCCTGCAGAGAC 0.587000 19 36 0 0 1 0 0 PRRC2A 7916 broad.mit.edu 37 6 31599163 31599163 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:31599163G>A ENST00000376033.2 + 16 2947 c.2713G>A c.(2713-2715)Gga>Aga p.G905R PRRC2A_ENST00000376007.4_Missense_Mutation_p.G905R NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 905 4 X 57 AA type A repeats. PARGVGSGGQ -> LPASRSGA (in Ref. 1; AAA35585/AAA35586 and 8; CAA78744). cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 GCCTGCCCGCGGAGTCGGGAG 0.657000 11 25 0 0 1 0 0 FAM13C 220965 broad.mit.edu 37 10 61029768 61029768 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:61029768C>T ENST00000373867.3 - 8 910 c.445G>A c.(445-447)Ggt>Agt p.G149S FAM13C_ENST00000442566.3_Missense_Mutation_p.G253S|FAM13C_ENST00000277705.6_Missense_Mutation_p.G253S|FAM13C_ENST00000468840.2_Missense_Mutation_p.G149S|FAM13C_ENST00000373868.2_Missense_Mutation_p.G232S|FAM13C_ENST00000435852.2_Missense_Mutation_p.G232S|FAM13C_ENST00000422313.2_Missense_Mutation_p.G232S|FAM13C_ENST00000419214.2_Missense_Mutation_p.G232S NM_001166698.1 NP_001160170.1 Q8NE31 FA13C_HUMAN family with sequence similarity 13, member C 232 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GGGTTATCACCATCAGTGATG 0.567000 27 7 0 0 1 0 0 AKR1CL1 340811 broad.mit.edu 37 10 5203822 5203822 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:5203822C>T ENST00000334314.3 - 3 451 c.375G>A c.(373-375)atG>atA p.M125I aldo-keto reductase family 1, member C-like 1 cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 6 AGCTGACCTTCATAGCAAATG 0.413000 39 5 0 0 1 0 0 BICD2 23299 broad.mit.edu 37 9 95481454 95481454 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:95481454G>A ENST00000356884.6 - 5 1540 c.1473C>T c.(1471-1473)gcC>gcT p.A491A BICD2_ENST00000375512.3_Silent_p.A491A NM_001003800.1 NP_001003800.1 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 (Drosophila) 491 microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 CCTGGCGGCTGGCCTTCTCTA 0.682000 43 34 0 0 1 0 0 CPNE5 57699 broad.mit.edu 37 6 36724064 36724064 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:36724064C>T ENST00000244751.2 - 13 1491 c.867G>A c.(865-867)ccG>ccA p.P289P CPNE5_ENST00000393189.2_5'UTR|CPNE5_ENST00000459703.1_5'UTR NM_020939.1 NP_065990.1 Q9HCH3 CPNE5_HUMAN copine V 289 central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 TTTTCTTTTTCGGGTTTACCA 0.522000 14 7 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9068743 9068743 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:9068743G>A ENST00000397910.4 - 3 18906 c.18703C>T c.(18703-18705)Cct>Tct p.P6235S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6237 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAAGTTACAGGAGAAGGTGAG 0.483000 27 23 0 0 1 0 0 ZNF600 162966 broad.mit.edu 37 19 53270331 53270331 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:53270331G>A ENST00000338230.3 - 3 945 c.678C>T c.(676-678)tcC>tcT p.S226S NM_198457.2 NP_940859.2 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 226 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) CCTGACTGAAGGACTTTCCAC 0.408000 53 64 0 0 1 0 0 CORO7 79585 broad.mit.edu 37 16 4411248 4411248 + Splice_Site SNP A A G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:4411248A>G ENST00000251166.4 - 18 1834 c.1687_splice c.e18-1 p.A563_splice CORO7_ENST00000423908.2_3'UTR|CORO7_ENST00000537233.2_Splice_Site_p.A545_splice|CORO7_ENST00000574025.1_Splice_Site_p.A478_splice|CORO7_ENST00000539968.1_Splice_Site_p.A343_splice|CORO7-PAM16_ENST00000572467.1_Splice_Site_p.A563_splice NM_024535.4 NP_078811.3 coronin 7 breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2) 23 CGTCCTCACCAGCTGCAGAGG 0.657000 13 14 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 98187146 98187146 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:98187146G>A ENST00000370192.3 - 5 503 c.403C>T c.(403-405)Ctt>Ttt p.L135F DPYD_ENST00000306031.5_Missense_Mutation_p.L135F|DPYD_ENST00000423006.2_Missense_Mutation_p.L98F|DPYD_ENST00000474241.1_5'UTR NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 135 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) CCTACACAAAGATCAGAGGTT 0.388000 83 27 0 0 1 0 0 CGNL1 84952 broad.mit.edu 37 15 57745951 57745951 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr15:57745951G>A ENST00000281282.5 + 7 2203 c.2125G>A c.(2125-2127)Gaa>Aaa p.E709K NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 709 myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) CCAGCTCTCAGAAATGCACGA 0.552000 17 2 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 55989061 55989061 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:55989061G>A ENST00000244728.5 - 15 2077 c.1680C>T c.(1678-1680)ggC>ggT p.G560G COL21A1_ENST00000370819.1_Silent_p.G557G|COL21A1_ENST00000535941.1_Silent_p.G560G NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 560 Collagen-like 2. G -> S (in dbSNP:rs9382581). cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) GGCCAGGGAAGCCAGCATTCC 0.348000 4 4 0 0 1 0 0 SLC25A45 283130 broad.mit.edu 37 11 65147339 65147339 + Splice_Site SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:65147339G>A ENST00000417511.2 - 7 1160 c.27_splice c.e7+1 p.S9_splice SLC25A45_ENST00000294187.6_Splice_Site_p.S9_splice|SLC25A45_ENST00000527174.1_Splice_Site_p.S51_splice|SLC25A45_ENST00000398802.1_Splice_Site_p.S51_splice|SLC25A45_ENST00000360662.3_Intron|SLC25A45_ENST00000526432.1_Splice_Site_p.S51_splice|SLC25A45_ENST00000534028.1_Intron|SLC25A45_ENST00000377152.2_Splice_Site_p.S9_splice NM_001278251.1 NP_001265180.1 Q8N413 S2545_HUMAN solute carrier family 25, member 45 51 transmembrane transport integral to membrane|mitochondrial inner membrane binding endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 14 GCCACTCACGGACTCATGGCG 0.612000 22 24 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41591588 41591588 + Splice_Site SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:41591588C>T ENST00000396942.1 - 3 213 c.e3-1 ANK1_ENST00000352337.4_Splice_Site|ANK1_ENST00000379758.2_Splice_Site|ANK1_ENST00000289734.7_Splice_Site|ANK1_ENST00000265709.8_Splice_Site|ANK1_ENST00000396945.1_Splice_Site|ANK1_ENST00000347528.4_Splice_Site P16157 ANK1_HUMAN ankyrin 1, erythrocytic axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TCAACCCATTCTGTAAAGAGC 0.517000 47 66 0 0 1 0 0 NCK1 4690 broad.mit.edu 37 3 136664568 136664568 + Nonsense_Mutation SNP G G T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:136664568G>T ENST00000469404.1 + 2 269 c.178G>T c.(178-180)Gaa>Taa p.E60* NCK1_ENST00000481752.1_Nonsense_Mutation_p.E124*|NCK1_ENST00000288986.2_Nonsense_Mutation_p.E124* NM_001190796.1 NP_001177725.1 P16333 NCK1_HUMAN NCK adaptor protein 1 124 SH3 1. axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway cytosol|endoplasmic reticulum|nucleus cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 13 GAGAGAGGATGAATTATCATT 0.458000 38 28 8.16277e-20 8.29704e-20 1 1 0 FBN3 84467 broad.mit.edu 37 19 8160928 8160928 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:8160928C>T ENST00000600128.1 - 45 5990 c.5576G>A c.(5575-5577)gGg>gAg p.G1859E FBN3_ENST00000270509.2_Missense_Mutation_p.G1859E|FBN3_ENST00000601739.1_Missense_Mutation_p.G1859E Q75N90 FBN3_HUMAN fibrillin 3 1859 EGF-like 29; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CTTGCAGGTCCCATTTCCACA 0.567000 32 24 0 0 1 0 0 HEG1 57493 broad.mit.edu 37 3 124746123 124746123 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:124746123G>A ENST00000311127.4 - 3 906 c.839C>T c.(838-840)tCc>tTc p.S280F NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 280 extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 TGGTCCTGAGGAATTTCTCTT 0.532000 7 2 0 0 1 0 0 GPR65 8477 broad.mit.edu 37 14 88477394 88477394 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:88477394C>T ENST00000267549.3 + 2 761 c.203C>T c.(202-204)cCt>cTt p.P68L RP11-300J18.2_ENST00000554433.1_RNA NM_003608.3 NP_003599.2 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 68 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 TTAACTCTCCCTTTATGGATT 0.393000 85 56 0 0 1 0 0 CRHR1 1394 broad.mit.edu 37 17 43911173 43911173 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:43911173G>A ENST00000314537.5 + 11 1248 c.1023G>A c.(1021-1023)cgG>cgA p.R341R CRHR1_ENST00000577353.1_Silent_p.R341R|CRHR1_ENST00000398285.3_Silent_p.R370R|CRHR1_ENST00000339069.5_Intron|CRHR1_ENST00000293493.7_Silent_p.R166R|CRHR1_ENST00000352855.5_Silent_p.R301R NM_001145147.1|NM_001145148.1|NM_004382.4 NP_001138619.1|NP_001138620.1|NP_004373.2 P34998 CRFR1_HUMAN corticotropin releasing hormone receptor 1 370 female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1) 24 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) AGGTCTCCCGGGTCGTCTTCA 0.582000 89 16 0 0 1 0 0 C14orf37 145407 broad.mit.edu 37 14 58605935 58605935 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:58605935C>T ENST00000267485.7 - 2 336 c.142G>A c.(142-144)Gat>Aat p.D48N C14orf37_ENST00000334342.5_5'UTR NM_001001872.2 NP_001001872.2 Q86TY3 CN037_HUMAN chromosome 14 open reading frame 37 48 integral to membrane binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1) 33 TTCATCTTATCGGACTGCCCT 0.478000 43 141 0 0 1 0 0 SYCP1 6847 broad.mit.edu 37 1 115428875 115428875 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:115428875G>A ENST00000369522.3 + 14 1375 c.1135G>A c.(1135-1137)Gaa>Aaa p.E379K SYCP1_ENST00000369518.1_Missense_Mutation_p.E379K NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 379 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TGTGGTTACTGAATTTGAAAC 0.299000 6 91 0 0 1 0 0 SPON1 10418 broad.mit.edu 37 11 14101558 14101558 + RNA SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:14101558G>A ENST00000310358.7 + 0 1202 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) ACACCCAAAGGATTACCCTCG 0.483000 12 25 0 0 1 0 0 ZNF560 147741 broad.mit.edu 37 19 9578569 9578569 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:9578569C>T ENST00000301480.4 - 10 1267 c.1054G>A c.(1054-1056)Gaa>Aaa p.E352K NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 352 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 TTTCCACATTCCTTACATTCA 0.373000 40 33 0 0 1 0 0 ACSF3 197322 broad.mit.edu 37 16 89180863 89180863 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:89180863C>T ENST00000317447.4 + 6 1471 c.1094C>T c.(1093-1095)tCc>tTc p.S365F CTD-2555A7.3_ENST00000562782.1_RNA|ACSF3_ENST00000378345.4_Missense_Mutation_p.S100F|ACSF3_ENST00000406948.3_Missense_Mutation_p.S365F NM_001127214.2|NM_001243279.1|NM_174917.3 NP_001120686.1|NP_001230208.1|NP_777577.2 Q4G176 ACSF3_HUMAN acyl-CoA synthetase family member 3 365 fatty acid metabolic process mitochondrion acid-thiol ligase activity|ATP binding central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(80;0.0281) ATGGCTCTGTCCGGGCCCCTG 0.647000 40 67 0 0 1 0 0 LGALS13 29124 broad.mit.edu 37 19 40095307 40095307 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:40095307C>T ENST00000221797.4 + 2 126 c.81C>T c.(79-81)atC>atT p.I27I NM_013268.2 NP_037400.1 Q9UHV8 PP13_HUMAN lectin, galactoside-binding, soluble, 13 27 Galectin. lipid catabolic process|phospholipid metabolic process carboxylesterase activity|lysophospholipase activity|sugar binding lung(5)|ovary(1)|urinary_tract(1) 7 all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116) Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281) GGACACCAATCCACTCTTTTA 0.463000 37 34 0 0 1 0 0 TFEC 22797 broad.mit.edu 37 7 115596840 115596840 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:115596840C>T ENST00000265440.7 - 4 455 c.275G>A c.(274-276)gGa>gAa p.G92E TFEC_ENST00000320239.7_Missense_Mutation_p.G63E|TFEC_ENST00000484212.1_Missense_Mutation_p.G182E|TFEC_ENST00000457268.1_Missense_Mutation_p.G25E|TFEC_ENST00000393485.1_Missense_Mutation_p.G63E NM_012252.3 NP_036384.1 O14948 TFEC_HUMAN transcription factor EC 92 Necessary for transcriptional transactivation. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(10;0.00878) CAAAATACTTCCAGATAACTT 0.318000 7 20 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32011626 32011626 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:32011626C>T ENST00000375244.3 - 35 11631 c.11430G>A c.(11428-11430)caG>caA p.Q3810Q TNXB_ENST00000375247.2_Silent_p.Q3808Q|TNXB_ENST00000451343.1_Silent_p.Q239Q P22105 TENX_HUMAN tenascin XB 3855 Fibronectin type-III 30. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CCTGGAGTTTCTGGGTCCGGG 0.637000 115 50 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 121058703 121058703 + Splice_Site SNP C C T rs140608882 by1000genomes TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:121058703C>T ENST00000392793.1 + 21 6433 c.6162_splice c.e21+1 p.I2054_splice TECTA_ENST00000264037.2_Splice_Site_p.I2054_splice O75443 TECTA_HUMAN tectorin alpha 2054 ZP. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CCTGTAAAATCGTAAGTGAGA 0.448000 19 36 0 0 1 0 0 PRR23C 389152 broad.mit.edu 37 3 138762974 138762974 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:138762974G>A ENST00000413199.1 - 1 760 c.489C>T c.(487-489)ttC>ttT p.F163F PRR23C_ENST00000502927.2_Silent_p.F163F|MRPS22_ENST00000495075.1_Intron NM_001134657.1 NP_001128129.1 Q6ZRP0 PR23C_HUMAN proline rich 23C 163 breast(2)|lung(7)|skin(2) 11 AGAGCTCCGGGAACTCAGAGT 0.657000 6 9 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112707633 112707633 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:112707633G>A ENST00000550722.1 - 13 2159 c.1764C>T c.(1762-1764)ttC>ttT p.F588F HECTD4_ENST00000430131.2_Silent_p.F300F|HECTD4_ENST00000377560.5_Silent_p.F550F NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 TTTGTGGGCTGAAGAAAAATT 0.378000 9 16 0 0 1 0 0 S1PR4 8698 broad.mit.edu 37 19 3179791 3179791 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:3179791C>T ENST00000246115.3 + 1 1056 c.1001C>T c.(1000-1002)cCc>cTc p.P334L NM_003775.3 NP_003766.1 O95977 S1PR4_HUMAN sphingosine-1-phosphate receptor 4 334 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 ATGCGAGGGCCCGGGGACTGC 0.687000 25 87 0 0 1 0 0 CNTN6 27255 broad.mit.edu 37 3 1339614 1339614 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:1339614C>T ENST00000446702.2 + 7 1327 c.700C>T c.(700-702)Cct>Tct p.P234S CNTN6_ENST00000350110.2_Missense_Mutation_p.P234S|CNTN6_ENST00000539053.1_Missense_Mutation_p.P162S Q9UQ52 CNTN6_HUMAN contactin 6 234 Ig-like C2-type 3. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) AGTGCGTTTTCCTGAAACTAT 0.358000 28 26 0 0 1 0 0 INTS7 25896 broad.mit.edu 37 1 212119995 212119995 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:212119995G>A ENST00000366994.3 - 18 2473 c.2369C>T c.(2368-2370)tCt>tTt p.S790F INTS7_ENST00000366993.3_Missense_Mutation_p.S776F|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_Missense_Mutation_p.S741F|INTS7_ENST00000366992.3_Intron NM_001199811.1|NM_001199812.1|NM_015434.3 NP_001186740.1|NP_001186741.1|NP_056249.1 Q9NVH2 INT7_HUMAN integrator complex subunit 7 790 snRNA processing integrator complex protein binding NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) TCTCTGGAAAGAAAGGGGAAC 0.348000 6 47 0 0 1 0 0 WISP1 8840 broad.mit.edu 37 8 134232832 134232832 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:134232832G>A ENST00000250160.6 + 3 464 c.358G>A c.(358-360)Ggt>Agt p.G120S WISP1_ENST00000517423.1_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000377863.2_Intron NM_003882.3 NP_003873.1 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 120 cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) AGAGGTGGTCGGTGTGGGCTG 0.647000 30 46 0 0 1 0 0 OR8S1 341568 broad.mit.edu 37 12 48919555 48919555 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:48919555C>T ENST00000310194.1 + 1 141 c.141C>T c.(139-141)ctC>ctT p.L47L OR8S1_ENST00000551654.1_Intron NM_001005203.2 NP_001005203.2 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, member 1 47 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 TGCTGCTGCTCATGATCAGGG 0.498000 44 42 0 0 1 0 0 BUD13 84811 broad.mit.edu 37 11 116633303 116633303 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:116633303G>A ENST00000260210.4 - 4 1025 c.1002C>T c.(1000-1002)tcC>tcT p.S334S BUD13_ENST00000375445.3_Intron NM_032725.3 NP_116114.1 Q9BRD0 BUD13_HUMAN BUD13 homolog (S. cerevisiae) 334 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1) 22 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) CTCCAAAATGGGATTTTGCTT 0.448000 43 32 0 0 1 0 0 NAF1 92345 broad.mit.edu 37 4 164050305 164050305 + Missense_Mutation SNP G G T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:164050305G>T ENST00000274054.2 - 8 1422 c.1229C>A c.(1228-1230)cCt>cAt p.P410H NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron NM_138386.2 NP_612395.2 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 ribonucleoprotein 410 rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2) 21 all_hematologic(180;0.166) Prostate(90;0.109) TCTCTGAGAAGGAAATCCTGA 0.483000 18 17 2.94398e-08 2.97218e-08 1 1 0 ABCC6 368 broad.mit.edu 37 16 16302617 16302617 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:16302617C>T ENST00000205557.7 - 7 791 c.762G>A c.(760-762)aaG>aaA p.K254K ABCC6_ENST00000574094.1_5'UTR NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 254 response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) TCATCCACTCCTTTTCAAGCC 0.552000 34 41 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86394808 86394808 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:86394808C>T ENST00000361669.2 + 2 1446 c.347C>T c.(346-348)tCt>tTt p.S116F GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.S116F|GRM3_ENST00000394720.2_Missense_Mutation_p.S114F|GRM3_ENST00000536043.1_Intron NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 116 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GTCAGGGCATCTTTGACAAAA 0.443000 35 45 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179430689 179430689 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:179430689C>T ENST00000589042.1 - 326 80394 c.80170G>A c.(80170-80172)Gag>Aag p.E26724K TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E17659K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E17851K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E17784K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E25083K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24156K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25083 Ig-like 128. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGGTTGACTCACGTTTGTCA 0.418000 99 28 0 0 1 0 0 TRBV5-1 28614 broad.mit.edu 37 7 142021119 142021119 + RNA SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:142021119G>A ENST00000390381.3 + 0 408 TGATCAAAACGAGAGGACAGC 0.537000 17 12 0 0 1 0 0 PSG8 440533 broad.mit.edu 37 19 43262328 43262328 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:43262328G>A ENST00000404209.4 - 3 631 c.535C>T c.(535-537)Ctg>Ttg p.L179L PSG8_ENST00000401467.2_Intron|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000306511.4_Silent_p.L179L|PSG8_ENST00000406636.3_Silent_p.L57L NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 179 Ig-like C2-type 1. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) ATCCACCACAGGTAGCTTGCG 0.532000 109 191 0 0 1 0 0 C11orf88 399949 broad.mit.edu 37 11 111385544 111385544 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:111385544G>A ENST00000529167.1 + 1 35 c.35G>A c.(34-36)cGa>cAa p.R12Q RP11-794P6.6_ENST00000530283.1_RNA|C11orf88_ENST00000375618.4_Missense_Mutation_p.R12Q|C11orf88_ENST00000332814.6_Missense_Mutation_p.R12Q Q6PI97 CK088_HUMAN chromosome 11 open reading frame 88 12 endometrium(1)|large_intestine(3)|lung(2) 6 CCTAGCGGCCGAAAAGAGTCC 0.627000 OREG0021329 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 36 0 0 1 0 0 ELF5 2001 broad.mit.edu 37 11 34533109 34533109 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:34533109G>A ENST00000312319.2 - 1 237 c.8C>T c.(7-9)tCt>tTt p.S3F ELF5_ENST00000532417.1_Intron|ELF5_ENST00000257832.2_Intron|ELF5_ENST00000528709.1_5'UTR|ELF5_ENST00000429939.2_Intron NM_001243081.1|NM_198381.1 NP_001230010.1|NP_938195.1 Q9UKW6 ELF5_HUMAN E74-like factor 5 (ets domain transcription factor) 3 cell proliferation|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(4)|skin(1) 5 Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384) GTGAGGCAGAGATGGCATGGA 0.532000 14 14 0 0 1 0 0 IGFBP5 3488 broad.mit.edu 37 2 217543705 217543705 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:217543705G>A ENST00000233813.4 - 2 1184 c.435C>T c.(433-435)tcC>tcT p.S145S NM_000599.3 NP_000590.1 P24593 IBP5_HUMAN insulin-like growth factor binding protein 5 145 negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction insulin-like growth factor I binding endometrium(1)|large_intestine(3)|lung(1) 5 Renal(323;0.0822) Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTTCAGCTCGGAGATGCGGG 0.602000 66 34 0 0 1 0 0 C3orf20 84077 broad.mit.edu 37 3 14814327 14814327 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:14814327C>T ENST00000253697.3 + 17 3112 c.2660C>T c.(2659-2661)cCt>cTt p.P887L C3orf20_ENST00000435614.1_Missense_Mutation_p.P765L|C3orf20_ENST00000412910.1_Missense_Mutation_p.P765L NM_032137.4 NP_115513.4 Q8ND61 CC020_HUMAN chromosome 3 open reading frame 20 887 cytoplasm|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 GAGCTACATCCTCTCAGCAGG 0.592000 5 15 0 0 1 0 0 GDF10 2662 broad.mit.edu 37 10 48438486 48438486 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:48438486G>A ENST00000224605.2 - 1 490 c.225C>T c.(223-225)gtC>gtT p.V75V NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 75 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 TGTGGACAGCGACCATGTCCT 0.721000 7 1 0 0 1 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 4 31 0 0 1 0 0 C5orf20 140947 broad.mit.edu 37 5 134782503 134782503 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:134782503G>A ENST00000503143.2 - 1 535 c.296C>T c.(295-297)tCg>tTg p.S99L TIFAB_ENST00000537858.1_3'UTR NM_130848.2 NP_570900.1 Q8TF63 DCNP1_HUMAN chromosome 5 open reading frame 20 99 nucleus endometrium(1)|lung(1)|prostate(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TGCTTCACTCGAAAGATTGGA 0.592000 31 12 0 0 1 0 0 HERC2P2 400322 broad.mit.edu 37 15 23300012 23300012 + RNA SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr15:23300012G>A ENST00000560464.1 - 0 4275 GCTGCACCACGATCGGCAGAG 0.602000 10 1 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 14019049 14019049 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:14019049G>A ENST00000279593.3 - 2 303 c.94C>T c.(94-96)Ccc>Tcc p.P32S NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 32 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATGCTGGGGGGGCTCTTCTGA 0.577000 12 38 0 0 1 0 0 SAG 6295 broad.mit.edu 37 2 234238222 234238222 + Splice_Site SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:234238222C>T ENST00000409110.1 + 9 962 c.733_splice c.e9+1 p.F244_splice SAG_ENST00000449594.2_Splice_Site_p.F110_splice NM_000541.4 NP_000532.2 P10523 ARRS_HUMAN S-antigen; retina and pineal gland (arrestin) 244 F -> C (in Ref. 1; CAA30984). rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) TTAAAGCATTCGGTAGGACCT 0.468000 17 8 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89941887 89941887 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:89941887G>A ENST00000405460.2 + 16 3097 c.3001G>A c.(3001-3003)Gat>Aat p.D1001N NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1001 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TAGAAGAAATGATGACCCCAT 0.343000 5 3 0 0 1 0 0 ARHGAP15 55843 broad.mit.edu 37 2 143959720 143959720 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:143959720G>A ENST00000409869.1 + 4 360 c.183G>A c.(181-183)agG>agA p.R61R ARHGAP15_ENST00000295095.6_Silent_p.R61R Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 61 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) GACACAGAAGGAATCATTCAC 0.289000 11 55 0 0 1 0 0 ABI3BP 25890 broad.mit.edu 37 3 100645170 100645170 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:100645170C>T ENST00000471714.1 - 2 365 c.256G>A c.(256-258)Ggg>Agg p.G86R ABI3BP_ENST00000495063.1_Missense_Mutation_p.G86R|ABI3BP_ENST00000532144.1_5'UTR|ABI3BP_ENST00000284322.5_Missense_Mutation_p.G86R Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 86 extracellular space p.G86R(2) central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 GTGAATTTCCCTTCAGCGGGA 0.478000 12 24 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137622164 137622164 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:137622164G>A ENST00000371817.3 + 7 1421 c.1007G>A c.(1006-1008)gGg>gAg p.G336E NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 336 Nonhelical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GTCGGCATCGGGGACTATGAC 0.622000 78 41 0 0 1 0 0 NPIPB4 440345 broad.mit.edu 37 16 21854860 21854860 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:21854860G>A ENST00000415645.2 - 4 431 c.392C>T c.(391-393)tCc>tTc p.S131F NPIPB4_ENST00000539318.1_5'UTR|NPIPB4_ENST00000357370.5_Missense_Mutation_p.S131F|NPIPB4_ENST00000451409.1_5'UTR nuclear pore complex interacting protein family, member B4 TCCTCGAAAGGAAGAAACTCT 0.428000 43 133 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108155142 108155142 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:108155142G>A ENST00000278616.4 + 26 4320 c.3935G>A c.(3934-3936)aGa>aAa p.R1312K ATM_ENST00000452508.2_Missense_Mutation_p.R1312K NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 1312 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.V1292_Q1331del(1) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GCACAGCAAAGAGAGACTGCT 0.373000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 19 15 0 0 1 0 0 MPHOSPH9 10198 broad.mit.edu 37 12 123641440 123641440 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:123641440G>A ENST00000606320.1 - 24 3672 c.3466C>T c.(3466-3468)Cgt>Tgt p.R1156C MPHOSPH9_ENST00000302349.5_Intron|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.R1126C|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.R1004C Q99550 MPP9_HUMAN M-phase phosphoprotein 9 1004 M phase of mitotic cell cycle centriole|Golgi membrane NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1) 33 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) CTTTCCAAACGATCTTCCAAG 0.378000 12 18 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117199535 117199535 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:117199535G>A ENST00000003084.6 + 11 1542 c.1410G>A c.(1408-1410)gtG>gtA p.V470V CFTR_ENST00000454343.1_Silent_p.V409V NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 470 ABC transporter 1. V -> M (in dbSNP:rs213950). respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TTCTAATGGTGATTATGGGAG 0.393000 Cystic Fibrosis 18 36 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237893645 237893645 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:237893645G>A ENST00000366574.2 + 77 11241 c.10924G>A c.(10924-10926)Gaa>Aaa p.E3642K RYR2_ENST00000360064.6_Missense_Mutation_p.E3640K|RYR2_ENST00000542537.1_Missense_Mutation_p.E3626K NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3642 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TAAACTGATAGAAGATTTAGC 0.403000 27 5 0 0 1 0 0 TBXAS1 6916 broad.mit.edu 37 7 139661906 139661906 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:139661906C>T ENST00000263552.6 + 13 1549 c.1011C>T c.(1009-1011)ttC>ttT p.F337F TBXAS1_ENST00000448866.1_Silent_p.F336F|TBXAS1_ENST00000416849.2_Silent_p.F383F|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000425687.1_Silent_p.F269F|TBXAS1_ENST00000414508.2_Silent_p.F337F|TBXAS1_ENST00000458722.1_Silent_p.F382F|TBXAS1_ENST00000436047.2_Silent_p.F337F|TBXAS1_ENST00000336425.5_Silent_p.F336F|TBXAS1_ENST00000411653.1_Silent_p.F336F NM_001130966.2 NP_001124438.1 P24557 THAS_HUMAN thromboxane A synthase 1 (platelet) 336 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) GCCAGGCCTTCATCTTCCTCA 0.542000 8 29 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26688924 26688924 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:26688924C>T ENST00000529632.2 + 2 843 c.647C>T c.(646-648)cCc>cTc p.P216L SEZ6L_ENST00000343706.4_Missense_Mutation_p.P216L|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000248933.6_Missense_Mutation_p.P216L|SEZ6L_ENST00000360929.3_Missense_Mutation_p.P216L|SEZ6L_ENST00000404234.3_Missense_Mutation_p.P216L|SEZ6L_ENST00000402979.1_5'UTR NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 216 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 CACACACTCCCCCAGAGGCCA 0.647000 15 122 0 0 1 0 0 ZNF384 171017 broad.mit.edu 37 12 6787562 6787562 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:6787562G>A ENST00000396795.1 - 5 914 c.417C>T c.(415-417)acC>acT p.T139T ZNF384_ENST00000396799.2_Silent_p.T139T|ZNF384_ENST00000319770.3_Silent_p.T123T|ZNF384_ENST00000396801.3_Silent_p.T139T|ZNF384_ENST00000361959.3_Silent_p.T139T|ZNF384_ENST00000355772.4_Intron Q8TF68 ZN384_HUMAN zinc finger protein 384 139 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/ZNF384(4) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1) 18 AAATGGGGAAGGTCTGAGCTG 0.547000 T """EWSR1, TAF15 """ ALL 7 10 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79051797 79051797 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr15:79051797G>A ENST00000388820.4 - 24 5237 c.5027C>T c.(5026-5028)cCc>cTc p.P1676L NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1676 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 GCCTCGGGAGGGGGCGCCGTG 0.721000 10 3 0 0 1 0 0 RPL17-C18orf32 100526842 broad.mit.edu 37 18 47016828 47016828 + Missense_Mutation SNP A A C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr18:47016828A>C ENST00000584895.1 - 4 325 c.311T>G c.(310-312)cTt>cGt p.L104R RPL17_ENST00000418495.1_Missense_Mutation_p.L104R|RPL17_ENST00000581373.1_Missense_Mutation_p.L66R|RPL17_ENST00000581091.1_5'UTR|RPL17_ENST00000580261.1_Missense_Mutation_p.L104R|RPL17_ENST00000579248.1_Missense_Mutation_p.L104R|RPL17-C18orf32_ENST00000332968.6_Missense_Mutation_p.L66R|MIR1539_ENST00000581232.1_RNA|RPL17_ENST00000579408.1_Missense_Mutation_p.L104R|RPL17_ENST00000580210.1_Missense_Mutation_p.L94R NM_001199355.1|NM_001199356.1 NP_001186284.1|NP_001186285.1 GGGTACCTTAAGTTCAGCATT 0.418000 32 39 0 0 1 0 0 PABPC1 26986 broad.mit.edu 37 8 101717162 101717162 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:101717162G>A ENST00000318607.5 - 13 2938 c.1810C>T c.(1810-1812)Cgt>Tgt p.R604C PABPC1_ENST00000522387.1_Missense_Mutation_p.R572C|PABPC1_ENST00000519004.1_Missense_Mutation_p.R559C NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 604 PABC. mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) ACCTTAGAACGGAGTGACTCT 0.393000 28 48 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10222145 10222145 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:10222145C>T ENST00000418404.3 - 26 3863 c.3700G>A c.(3700-3702)Gac>Aac p.D1234N MYH13_ENST00000570743.1_Missense_Mutation_p.D1234N|MYH13_ENST00000252172.4_Missense_Mutation_p.D1234N Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1234 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 CTGGCCATGTCGTCAATCTCC 0.577000 35 32 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28284008 28284008 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:28284008C>T ENST00000305242.5 - 2 156 c.64G>A c.(64-66)Gaa>Aaa p.E22K NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 22 binding p.E22K(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 GGGGTGATTTCGAGGATTCCA 0.453000 5 32 0 0 1 0 0 PTH2R 5746 broad.mit.edu 37 2 209309521 209309521 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:209309521C>T ENST00000272847.2 + 7 975 c.762C>T c.(760-762)atC>atT p.I254I PTH2R_ENST00000413482.1_3'UTR NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 254 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) ATTATTGGATCCTGGTGGAAG 0.393000 96 50 0 0 1 0 0 KCNJ14 3770 broad.mit.edu 37 19 48967557 48967557 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:48967557C>T ENST00000391884.1 + 2 1310 c.834C>T c.(832-834)atC>atT p.I278I KCNJ14_ENST00000342291.2_Silent_p.I278I Q9UNX9 IRK14_HUMAN potassium inwardly-rectifying channel, subfamily J, member 14 278 voltage-gated potassium channel complex inward rectifier potassium channel activity cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1) 10 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222) TCCATGAGATCGACTCTGCCA 0.582000 15 16 0 0 1 0 0 ZMYM2 7750 broad.mit.edu 37 13 20625721 20625721 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr13:20625721C>T ENST00000382869.3 + 13 2692 c.2441C>T c.(2440-2442)cCt>cTt p.P814L ZMYM2_ENST00000382874.2_Missense_Mutation_p.P814L|ZMYM2_ENST00000382883.3_Missense_Mutation_p.P296L|ZMYM2_ENST00000382870.2_Missense_Mutation_p.P194L|ZMYM2_ENST00000382871.2_Missense_Mutation_p.P814L NM_001190965.1|NM_003453.3|NM_197968.2 NP_001177894.1|NP_003444.1|NP_932072.1 Q9UBW7 ZMYM2_HUMAN zinc finger, MYM-type 2 814 regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body ubiquitin conjugating enzyme binding|zinc ion binding large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856) CAGAAAGGACCTGAAAACTTA 0.373000 14 14 0 0 1 0 0 MARCO 8685 broad.mit.edu 37 2 119750792 119750792 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:119750792G>A ENST00000541757.1 + 17 1491 c.1111G>A c.(1111-1113)Gac>Aac p.D371N MARCO_ENST00000327097.4_Missense_Mutation_p.D449N Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 449 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 AATTTGCGATGACGAGTGGCA 0.522000 31 157 0 0 1 0 0 DMKN 93099 broad.mit.edu 37 19 36002316 36002316 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:36002316G>A ENST00000339686.3 - 5 1091 c.915C>T c.(913-915)tcC>tcT p.S305S DMKN_ENST00000429837.1_Intron|DMKN_ENST00000447113.2_Silent_p.S305S|DMKN_ENST00000424570.2_Silent_p.S305S|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000451297.2_Silent_p.S305S|DMKN_ENST00000418261.1_Silent_p.S305S|DMKN_ENST00000440396.1_Silent_p.S305S NM_033317.4 NP_201574.3 Q6E0U4 DMKN_HUMAN dermokine 305 Gly-rich. extracellular region NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2) 27 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) AACTCACCCAGGAGGACTCAC 0.647000 8 27 0 0 1 0 0 CIDEA 1149 broad.mit.edu 37 18 12274179 12274179 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr18:12274179G>A ENST00000320477.9 + 4 483 c.418G>A c.(418-420)Gac>Aac p.D140N CIDEA_ENST00000521296.1_3'UTR NM_001279.3 NP_001270.1 O60543 CIDEA_HUMAN cell death-inducing DFFA-like effector a 140 DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis mitochondrial envelope|nucleus protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2) 13 GAACCCCAAGGACTTCATCGG 0.582000 37 43 0 0 1 0 0 BCAR1 9564 broad.mit.edu 37 16 75276760 75276760 + Missense_Mutation SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:75276760T>C ENST00000546196.1 - 2 1806 c.154A>G c.(154-156)Acc>Gcc p.T52A BCAR1_ENST00000393420.6_Missense_Mutation_p.T81A|BCAR1_ENST00000393422.2_Missense_Mutation_p.T99A|BCAR1_ENST00000162330.5_Missense_Mutation_p.T81A|BCAR1_ENST00000542031.2_Missense_Mutation_p.T79A|BCAR1_ENST00000538440.2_Missense_Mutation_p.T81A|BCAR1_ENST00000420641.3_Missense_Mutation_p.T99A|BCAR1_ENST00000418647.3_Missense_Mutation_p.T127A|BCAR1_ENST00000535626.2_Intron P56945 BCAR1_HUMAN breast cancer anti-estrogen resistance 1 81 SH3. actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway cytosol|focal adhesion|membrane fraction|ruffle protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 35 BRCA - Breast invasive adenocarcinoma(221;0.169) TGGGCCGGGGTGGCGGGAGGG 0.692000 4 44 0 0 1 0 0 BCL11B 64919 broad.mit.edu 37 14 99641003 99641003 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:99641003C>T ENST00000345514.2 - 3 2223 c.1957G>A c.(1957-1959)Gac>Aac p.D653N BCL11B_ENST00000443726.2_Missense_Mutation_p.D530N|BCL11B_ENST00000357195.3_Missense_Mutation_p.D724N NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 724 Gly-rich. nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) AGGAAGGGGTCCTTCATGAAG 0.692000 T TLX3 T-ALL 5 23 0 0 1 0 0 DNAJB12 54788 broad.mit.edu 37 10 74103169 74103169 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:74103169G>A ENST00000338820.3 - 3 663 c.514C>T c.(514-516)Cac>Tac p.H172Y DNAJB12_ENST00000461919.1_5'UTR|DNAJB12_ENST00000394903.2_Missense_Mutation_p.H172Y|DNAJB12_ENST00000444643.2_Missense_Mutation_p.H138Y NM_001002762.2 NP_001002762.2 Q9NXW2 DJB12_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 12 138 J. protein folding endoplasmic reticulum|integral to membrane heat shock protein binding|unfolded protein binding endometrium(1)|large_intestine(2)|skin(1) 4 TTGTCTGGGTGGAATTTGAGG 0.537000 16 5 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139158222 139158222 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:139158222G>A ENST00000395297.1 - 15 3690 c.3520C>T c.(3520-3522)Cta>Tta p.L1174L NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1174 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TCAGACATTAGGAAGTCCAGT 0.438000 HNSCC(54;0.14) 25 52 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9087718 9087718 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:9087718C>T ENST00000397910.4 - 1 4300 c.4097G>A c.(4096-4098)gGa>gAa p.G1366E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1366 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTTAGGACTTCCAGAGTAAGC 0.488000 12 49 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56184364 56184364 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr18:56184364G>A ENST00000361673.3 - 9 5929 c.5716C>T c.(5716-5718)Cat>Tat p.H1906Y NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1906 Alpha-type protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TAGCTGTCATGGAGGAAGTCT 0.527000 17 34 0 0 1 0 0 IMPG1 3617 broad.mit.edu 37 6 76640701 76640701 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:76640701C>T ENST00000369950.3 - 15 2401 c.2212G>A c.(2212-2214)Gag>Aag p.E738K IMPG1_ENST00000369963.3_3'UTR NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 738 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) TGGAGGACCTCGCATTCCTTT 0.547000 19 65 0 0 1 0 0 KAT2B 8850 broad.mit.edu 37 3 20136892 20136892 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:20136892C>T ENST00000263754.4 + 3 1023 c.568C>T c.(568-570)Cta>Tta p.L190L KAT2B_ENST00000426228.1_3'UTR NM_003884.4 NP_003875.3 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B 190 cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 40 TTATTTCTATCTATTTAAGGT 0.368000 4 18 0 0 1 0 0 PPL 5493 broad.mit.edu 37 16 4935290 4935290 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:4935290C>T ENST00000345988.2 - 22 3455 c.3366G>A c.(3364-3366)aaG>aaA p.K1122K PPL_ENST00000590782.2_Silent_p.K1120K NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 1122 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 TGGCCGCGTCCTTCTCCACCT 0.627000 33 34 0 0 1 0 0 VARS 7407 broad.mit.edu 37 6 31746952 31746952 + Missense_Mutation SNP G G C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:31746952G>C ENST00000375663.3 - 29 3958 c.3518C>G c.(3517-3519)cCc>cGc p.P1173R NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 1173 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) GCAACCCTGGGGGGCGGGAGC 0.706000 3 19 0 0 1 0 0 SLC6A2 6530 broad.mit.edu 37 16 55719064 55719064 + Silent SNP C C T rs146052293 TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:55719064C>T ENST00000379906.2 + 4 909 c.654C>T c.(652-654)gtC>gtT p.V218V SLC6A2_ENST00000568943.1_Silent_p.V218V|SLC6A2_ENST00000414754.3_Silent_p.V218V|SLC6A2_ENST00000219833.8_Silent_p.V218V|SLC6A2_ENST00000561820.1_Silent_p.V218V|SLC6A2_ENST00000567238.1_Silent_p.V113V|SLC6A2_ENST00000566163.1_Silent_p.V218V NM_001043.3 NP_001034.1 P23975 SC6A2_HUMAN solute carrier family 6 (neurotransmitter transporter), member 2 218 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) GGCGTGGTGTCCTGCACCTTC 0.592000 10 37 0 0 1 0 0 VPS37A 137492 broad.mit.edu 37 8 17132396 17132396 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:17132396C>T ENST00000324849.4 + 5 1245 c.571C>T c.(571-573)Cct>Tct p.P191S VPS37A_ENST00000521829.1_Missense_Mutation_p.P166S NM_001145152.1|NM_152415.2 NP_001138624.1|NP_689628.2 Q8NEZ2 VP37A_HUMAN vacuolar protein sorting 37 homolog A (S. cerevisiae) 191 cellular membrane organization|endosome transport|protein transport centrosome|late endosome membrane|nucleus autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1) 10 Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212) CACAGCCAAGCCTGCCGCTCC 0.433000 12 61 0 0 1 0 0 ZNF177 7730 broad.mit.edu 37 19 9491817 9491817 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:9491817C>T ENST00000434737.2 + 5 866 c.810C>T c.(808-810)tcC>tcT p.S270S ZNF177_ENST00000343499.4_Intron|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000589262.1_Silent_p.S270S Q13360 ZN177_HUMAN zinc finger protein 177 278 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2) 13 ACCCTTTGTCCCTTCAGAACT 0.433000 21 28 0 0 1 0 0 ZNF582 147948 broad.mit.edu 37 19 56895279 56895279 + Missense_Mutation SNP C C G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:56895279C>G ENST00000301310.4 - 5 1665 c.1507G>C c.(1507-1509)Gca>Cca p.A503P ZNF582_ENST00000586929.1_Missense_Mutation_p.A503P NM_144690.1 NP_653291.1 Q96NG8 ZN582_HUMAN zinc finger protein 582 503 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0547) TGGTTGCTTGCCAACATAAAT 0.383000 33 48 0 0 1 0 0 RQCD1 9125 broad.mit.edu 37 2 219447751 219447751 + Missense_Mutation SNP A A T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:219447751A>T ENST00000273064.6 + 3 637 c.262A>T c.(262-264)Aac>Tac p.N88Y RQCD1_ENST00000295701.5_Missense_Mutation_p.N88Y|RQCD1_ENST00000542068.1_Missense_Mutation_p.N88Y|RQCD1_ENST00000509807.2_Missense_Mutation_p.N88Y NM_005444.2 NP_005435.1 Q92600 RCD1_HUMAN RCD1 required for cell differentiation1 homolog (S. pombe) 88 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1) 15 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACACCAGTCTAACAGAGTTTG 0.393000 60 30 0 0 1 0 0 TAAR2 9287 broad.mit.edu 37 6 132938786 132938786 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:132938786C>T ENST00000275191.2 - 1 531 c.424G>A c.(424-426)Gga>Aga p.G142R TAAR2_ENST00000367931.1_Missense_Mutation_p.G187R|TAAR2_ENST00000537809.1_Missense_Mutation_p.G142R NM_014626.3 NP_055441.2 Q9P1P5 TAAR2_HUMAN trace amine associated receptor 2 187 plasma membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1) 23 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151) CCCTCTATTCCATCTGCATAG 0.468000 26 19 0 0 1 0 0 OR1N2 138882 broad.mit.edu 37 9 125316096 125316096 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:125316096C>T ENST00000373688.2 + 1 706 c.648C>T c.(646-648)atC>atT p.I216I NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 216 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 AGCTGATGATCATCACCATGG 0.502000 29 92 0 0 1 0 0 DIRAS3 9077 broad.mit.edu 37 1 68512858 68512858 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:68512858C>T ENST00000370981.1 - 4 759 c.123G>A c.(121-123)gtG>gtA p.V41V GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA|DIRAS3_ENST00000395201.1_Silent_p.V41V O95661 DIRA3_HUMAN DIRAS family, GTP-binding RAS-like 3 41 regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 TGCCGACTACCACGACGCGGT 0.582000 110 46 0 0 1 0 0 CYP4B1 1580 broad.mit.edu 37 1 47284396 47284396 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:47284396G>A ENST00000271153.4 + 12 1482 c.1446G>A c.(1444-1446)cgG>cgA p.R482R CYP4B1_ENST00000452782.2_Silent_p.R320R|CYP4B1_ENST00000371919.4_Silent_p.R468R|CYP4B1_ENST00000371923.4_Silent_p.R483R P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, polypeptide 1 482 R -> Q (in dbSNP:rs45622937). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) ACCCCTCACGGCTGCCCATCA 0.572000 78 89 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228506837 228506837 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:228506837C>T ENST00000570156.2 + 65 17329 c.17255C>T c.(17254-17256)aCt>aTt p.T5752I OBSCN_ENST00000366707.4_Missense_Mutation_p.T2429I|OBSCN_ENST00000366709.4_Missense_Mutation_p.T1914I|OBSCN_ENST00000284548.11_Missense_Mutation_p.T4795I|OBSCN_ENST00000422127.1_Missense_Mutation_p.T4795I NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4795 DH. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CTGGCCCGCACTGGAGATGCT 0.652000 19 6 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32632916 32632916 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:32632916G>A ENST00000242310.4 - 1 2751 c.2662C>T c.(2662-2664)Cgt>Tgt p.R888C NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 888 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding p.R888C(1) breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GTTGGTAAACGAAAATCAGAC 0.478000 24 68 0 0 1 0 0 KIF3C 3797 broad.mit.edu 37 2 26152311 26152311 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:26152311G>A ENST00000264712.3 - 7 2730 c.2151C>T c.(2149-2151)tcC>tcT p.S717S KIF3C_ENST00000496378.1_5'UTR|KIF3C_ENST00000405914.1_Silent_p.S717S NM_002254.6 NP_002245.4 O14782 KIF3C_HUMAN kinesin family member 3C 717 Globular (Potential). blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGCTGGAGGGGACACATCCA 0.507000 9 53 0 0 1 0 0 COL6A1 1291 broad.mit.edu 37 21 47423835 47423835 + Missense_Mutation SNP G G T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr21:47423835G>T ENST00000361866.3 + 35 3109 c.2995G>T c.(2995-2997)Ggc>Tgc p.G999C COL6A1_ENST00000498614.1_3'UTR NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 999 C-terminal globular domain.|VWFA 3. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) CGTGGCCTACGGCGAGAGCCA 0.662000 22 49 1.10513e-12 1.12014e-12 1 1 0 FBN3 84467 broad.mit.edu 37 19 8138086 8138086 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:8138086C>T ENST00000600128.1 - 62 8212 c.7798G>A c.(7798-7800)Gac>Aac p.D2600N FBN3_ENST00000270509.2_Missense_Mutation_p.D2600N|FBN3_ENST00000601739.1_Missense_Mutation_p.D2600N Q75N90 FBN3_HUMAN fibrillin 3 2600 EGF-like 43; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 TGATCAAAGTCAAAGCCAGAG 0.652000 15 53 0 0 1 0 0 DLK2 65989 broad.mit.edu 37 6 43418790 43418790 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr6:43418790C>T ENST00000357338.3 - 6 1339 c.639G>A c.(637-639)ctG>ctA p.L213L DLK2_ENST00000372485.1_Silent_p.L207L|DLK2_ENST00000414245.1_Silent_p.L207L|DLK2_ENST00000372488.3_Silent_p.L213L NM_206539.1 NP_996262.1 Q6UY11 DLK2_HUMAN delta-like 2 homolog (Drosophila) 213 EGF-like 6; calcium-binding (Potential). integral to membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CACAGTCATCCAGGTTGATGG 0.627000 54 24 0 0 1 0 0 COL18A1 80781 broad.mit.edu 37 21 46893894 46893894 + Splice_Site SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr21:46893894G>A ENST00000359759.4 + 3 2003 c.1983_splice c.e3+1 p.G661_splice COL18A1_ENST00000400337.2_Splice_Site_p.G246_splice|COL18A1_ENST00000355480.5_Splice_Site_p.G426_splice P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 661 Nonhelical region 1 (NC1). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) GACTCAGATGGGGTGAGTGAC 0.592000 6 3 0 0 1 0 0 DEPDC5 9681 broad.mit.edu 37 22 32234801 32234801 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:32234801C>T ENST00000400246.1 + 27 2627 c.2485C>T c.(2485-2487)Ccg>Tcg p.P829S DEPDC5_ENST00000266091.3_Missense_Mutation_p.P829S|DEPDC5_ENST00000400249.2_Missense_Mutation_p.P820S|DEPDC5_ENST00000382112.3_Missense_Mutation_p.P820S|DEPDC5_ENST00000535622.1_Missense_Mutation_p.P751S|DEPDC5_ENST00000382111.2_Missense_Mutation_p.P829S|DEPDC5_ENST00000400248.1_Missense_Mutation_p.P820S|DEPDC5_ENST00000382105.2_Missense_Mutation_p.P751S O75140 DEPD5_HUMAN DEP domain containing 5 820 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 TGTCCCGCCCCCGCTGAGCAG 0.473000 50 87 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 83173111 83173111 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:83173111C>T ENST00000398309.2 - 22 2910 c.2440G>A c.(2440-2442)Gaa>Aaa p.E814K DLG2_ENST00000543673.1_Missense_Mutation_p.E919K|DLG2_ENST00000404783.3_Missense_Mutation_p.E292K|DLG2_ENST00000532653.1_Missense_Mutation_p.E796K|DLG2_ENST00000330014.6_Missense_Mutation_p.E735K|DLG2_ENST00000524982.1_Missense_Mutation_p.E810K|DLG2_ENST00000537455.1_Missense_Mutation_p.E564K|DLG2_ENST00000418306.2_Missense_Mutation_p.E693K|DLG2_ENST00000376104.2_Missense_Mutation_p.E919K|DLG2_ENST00000376106.3_Missense_Mutation_p.E278K|DLG2_ENST00000531015.1_Missense_Mutation_p.E781K|DLG2_ENST00000280241.8_Missense_Mutation_p.E853K|DLG2_ENST00000426717.2_Missense_Mutation_p.E278K NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 814 Guanylate kinase-like. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TTGGCTTGTTCCTCTGTTAGA 0.348000 13 36 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105414313 105414313 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:105414313G>A ENST00000333244.5 - 7 7594 c.7475C>T c.(7474-7476)tCa>tTa p.S2492L AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2492 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CACCCCGAATGACGGCATCTT 0.607000 95 316 0 0 1 0 0 KIAA1429 25962 broad.mit.edu 37 8 95541355 95541355 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:95541355G>A ENST00000297591.5 - 7 898 c.823C>T c.(823-825)Cct>Tct p.P275S KIAA1429_ENST00000421249.2_Missense_Mutation_p.P275S|KIAA1429_ENST00000437199.1_Missense_Mutation_p.P275S NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 275 Glu-rich. mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) tcctcctcAGGAATACTGTCT 0.433000 13 19 0 0 1 0 0 EVL 51466 broad.mit.edu 37 14 100595084 100595084 + Splice_Site SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:100595084G>A ENST00000544450.2 + 6 1011 c.729_splice c.e6+1 p.R243_splice EVL_ENST00000402714.2_Splice_Site_p.R237_splice|EVL_ENST00000392920.3_Splice_Site_p.R239_splice Q9UI08 EVL_HUMAN Enah/Vasp-like 237 EVH2. actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis cytoskeleton|cytosol|focal adhesion|lamellipodium actin binding|profilin binding|SH3 domain binding cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2) 14 Melanoma(154;0.152) AGAGTCCAACGGGTAAGAGCT 0.637000 8 24 0 0 1 0 0 LRFN4 78999 broad.mit.edu 37 11 66625721 66625721 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:66625721C>T ENST00000309602.4 + 1 749 c.506C>T c.(505-507)cCt>cTt p.P169L PC_ENST00000393960.1_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Missense_Mutation_p.P169L NM_024036.4 NP_076941.2 Q6PJG9 LRFN4_HUMAN leucine rich repeat and fibronectin type III domain containing 4 169 integral to membrane breast(1)|lung(1)|prostate(1) 3 GGCGCCATGCCTGCCCTGCAC 0.667000 34 23 0 0 1 0 0 GALNT11 63917 broad.mit.edu 37 7 151800385 151800385 + Nonstop_Mutation SNP A A T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:151800385A>T ENST00000415421.1 + 5 963 c.608A>T c.(607-609)tAa>tTa p.*203L GALNT11_ENST00000434507.1_Intron|GALNT11_ENST00000430044.2_Intron|GALNT11_ENST00000320311.2_Intron|GALNT11_ENST00000422997.2_Intron|GALNT11_ENST00000452146.2_Intron Q8NCW6 GLT11_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) 0 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2) 27 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.214) OV - Ovarian serous cystadenocarcinoma(82;0.00168) UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932) TGCACCTGGTAACATTGGATC 0.493000 8 6 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106508904 106508904 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:106508904G>A ENST00000359195.3 + 2 1208 c.898G>A c.(898-900)Gga>Aga p.G300R PIK3CG_ENST00000440650.2_Missense_Mutation_p.G300R|PIK3CG_ENST00000496166.1_Missense_Mutation_p.G300R NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 300 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 CCTCAAGAACGGAGAAGAGAT 0.587000 10 37 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79371428 79371428 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:79371428G>A ENST00000264895.6 + 45 6838 c.6398G>A c.(6397-6399)gGc>gAc p.G2133D NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2132 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 ATGAAGCATGGCAACCTGGAG 0.493000 10 62 0 0 1 0 0 LIPN 643418 broad.mit.edu 37 10 90521241 90521241 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:90521241G>A ENST00000404459.1 + 1 79 c.79G>A c.(79-81)Gaa>Aaa p.E27K NM_001102469.1 NP_001095939.1 Q5VXI9 LIPN_HUMAN lipase, family member N 27 lipid catabolic process extracellular region hydrolase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1) 9 Colorectal(252;0.0161) Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05) TTTGGAAAATGAAGTGAATCC 0.383000 35 12 0 0 1 0 0 WASL 8976 broad.mit.edu 37 7 123332413 123332413 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:123332413G>A ENST00000223023.4 - 9 1667 c.1335C>T c.(1333-1335)atC>atT p.I445I NM_003941.2 NP_003932.3 O00401 WASL_HUMAN Wiskott-Aldrich syndrome-like 445 WH2 2. actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|cytosol|nucleolus|plasma membrane actin binding|small GTPase regulator activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ATTTTAGTTGGATACCCTGTC 0.348000 14 34 0 0 1 0 0 PMEPA1 56937 broad.mit.edu 37 20 56228100 56228100 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:56228100C>T ENST00000341744.3 - 3 626 c.307G>A c.(307-309)Gga>Aga p.G103R PMEPA1_ENST00000347215.4_Missense_Mutation_p.G68R|PMEPA1_ENST00000395816.3_Missense_Mutation_p.G53R|PMEPA1_ENST00000395814.1_Missense_Mutation_p.G53R|PMEPA1_ENST00000265626.4_Missense_Mutation_p.G53R NM_020182.4 NP_064567.2 Q969W9 PMEPA_HUMAN prostate transmembrane protein, androgen induced 1 103 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 TCTGGGATTCCGTTGCCTGAC 0.637000 5 8 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 148044308 148044308 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chrX:148044308C>T ENST00000370460.2 + 13 3233 c.2754C>T c.(2752-2754)tcC>tcT p.S918S AFF2_ENST00000370457.5_Silent_p.S885S|AFF2_ENST00000286437.5_Silent_p.S559S|AFF2_ENST00000342251.3_Silent_p.S885S NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 918 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) CTCCACTTTCCCCACTGCCAG 0.433000 17 3 0 0 1 0 0 LOC101929735 101929735 broad.mit.edu 37 14 22925659 22925659 + RNA SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:22925659C>T ENST00000514473.2 - 0 225 CAAGGTTTTTCGTAATGATGC 0.453000 73 42 0 0 1 0 0 ROGDI 79641 broad.mit.edu 37 16 4851312 4851312 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:4851312C>T ENST00000322048.7 - 4 589 c.211G>A c.(211-213)Gtg>Atg p.V71M ROGDI_ENST00000586336.1_Intron NM_024589.2 NP_078865.1 Q9GZN7 ROGDI_HUMAN rogdi homolog (Drosophila) 71 intracellular endometrium(2)|lung(1)|ovary(1)|skin(1) 5 ACACCCTTCACCTGGTCTGTG 0.687000 14 14 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3213790 3213790 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:3213790C>T ENST00000355072.5 + 48 6694 c.6549C>T c.(6547-6549)ctC>ctT p.L2183L NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 2183 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) TGCAGCAGCTCCCTGCTGTCC 0.532000 23 22 0 0 1 0 0 FOXO1 2308 broad.mit.edu 37 13 41134688 41134688 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr13:41134688G>A ENST00000379561.5 - 2 1324 c.940C>T c.(940-942)Cgc>Tgc p.R314C NM_002015.3 NP_002006.2 Q12778 FOXO1_HUMAN forkhead box O1 314 anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding PAX7/FOXO1(197)|PAX3/FOXO1(749) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 20 Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815) GTTCGAGGGCGAAATGTACTC 0.498000 21 48 0 0 1 0 0 HKDC1 80201 broad.mit.edu 37 10 71018672 71018672 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:71018672G>A ENST00000354624.5 + 15 2306 c.2173G>A c.(2173-2175)Gac>Aac p.D725N HKDC1_ENST00000395086.2_Missense_Mutation_p.D725N NM_025130.3 NP_079406.3 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 725 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 GACCCGATACGACACGGAGGT 0.517000 8 2 0 0 1 0 0 ZBTB20 26137 broad.mit.edu 37 3 114069131 114069131 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:114069131G>A ENST00000462705.1 - 11 2396 c.1575C>T c.(1573-1575)ttC>ttT p.F525F ZBTB20_ENST00000474710.1_Silent_p.F598F|ZBTB20_ENST00000481632.1_Silent_p.F525F|ZBTB20_ENST00000393785.2_Silent_p.F525F|ZBTB20_ENST00000464560.1_Silent_p.F525F|ZBTB20_ENST00000471418.1_Silent_p.F525F|ZBTB20_ENST00000357258.3_Silent_p.F525F NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 598 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) CTGTGTGTACGAACATGTGCT 0.557000 48 45 0 0 1 0 0 CD300A 11314 broad.mit.edu 37 17 72473631 72473631 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:72473631C>T ENST00000360141.3 + 4 878 c.590C>T c.(589-591)tCc>tTc p.S197F CD300A_ENST00000361933.3_Intron|CD300A_ENST00000310828.5_Missense_Mutation_p.S84F|CD300A_ENST00000392625.3_Missense_Mutation_p.S84F|CD300A_ENST00000577511.1_Missense_Mutation_p.S67F NM_001256841.1|NM_007261.3 NP_001243770.1|NP_009192.2 Q9UGN4 CLM8_HUMAN CD300a molecule 197 cell adhesion integral to membrane|plasma membrane receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 GTGGGGGCCTCCCTGCTAGCC 0.622000 10 31 0 0 1 0 0 C1QTNF9B 387911 broad.mit.edu 37 13 24465536 24465536 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr13:24465536C>T ENST00000382137.3 - 3 962 c.894G>A c.(892-894)ggG>ggA p.G298G C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382145.1_3'UTR|C1QTNF9B_ENST00000382140.2_Silent_p.G298G|C1QTNF9B_ENST00000556521.1_5'UTR NM_001007537.1 NP_001007538.1 B2RNN3 C1T9B_HUMAN C1q and tumor necrosis factor related protein 9B 298 C1q. collagen breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1) 6 ACATCTCATCCCCGAGCTTCA 0.512000 24 38 0 0 1 0 0 SLC29A2 3177 broad.mit.edu 37 11 66131732 66131732 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:66131732C>T ENST00000357440.2 - 11 1451 c.1223G>A c.(1222-1224)gGc>gAc p.G408D RP11-867G23.8_ENST00000580881.1_Intron|SLC29A2_ENST00000546034.1_Missense_Mutation_p.G408D|SLC29A2_ENST00000544554.1_Missense_Mutation_p.G408D|SLC29A2_ENST00000311161.7_3'UTR NM_001532.2 NP_001523.2 Q14542 S29A2_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 2 408 cell proliferation|nucleobase, nucleoside and nucleotide metabolic process basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus nucleoside transmembrane transporter activity breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 CACCAGGTAGCCATTAGAAAC 0.617000 OREG0021103 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 7 0 0 1 0 0 CNTN6 27255 broad.mit.edu 37 3 1444001 1444001 + Splice_Site SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:1444001G>A ENST00000446702.2 + 22 3444 c.e22-1 CNTN6_ENST00000350110.2_Splice_Site|CNTN6_ENST00000539053.1_Splice_Site Q9UQ52 CNTN6_HUMAN contactin 6 axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) ATTTTATTCAGATTCTGTACC 0.348000 8 23 0 0 1 0 0 TMC7 79905 broad.mit.edu 37 16 19049269 19049269 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:19049269C>T ENST00000421369.3 + 8 1307 c.749C>T c.(748-750)tCt>tTt p.S250F TMC7_ENST00000569532.1_Missense_Mutation_p.S360F|TMC7_ENST00000304381.5_Missense_Mutation_p.S360F|TMC7_ENST00000561963.1_3'UTR NM_001160364.1 NP_001153836.1 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 360 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 CGCATTTACTCTTTGAGACTG 0.393000 44 48 0 0 1 0 0 GALNS 2588 broad.mit.edu 37 16 88901703 88901703 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr16:88901703G>A ENST00000268695.5 - 8 904 c.816C>T c.(814-816)ctC>ctT p.L272L GALNS_ENST00000542788.1_Silent_p.L197L NM_000512.4 NP_000503.1 P34059 GALNS_HUMAN galactosamine (N-acetyl)-6-sulfate sulfatase 272 lysosome metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8) 22 BRCA - Breast invasive adenocarcinoma(80;0.0496) Hyaluronidase(DB00070) GCAGGTCTTGGAGGAGCTCCA 0.577000 15 16 0 0 1 0 0 RPSAP52 204010 broad.mit.edu 37 12 66152165 66152165 + RNA SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:66152165G>A ENST00000489520.2 - 0 778 NR_026825.2 GTCTCTTCAGGATCTCTGTAG 0.478000 7 6 0 0 1 0 0 ENOX1 55068 broad.mit.edu 37 13 43788201 43788201 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr13:43788201C>T ENST00000261488.6 - 17 2434 c.1857G>A c.(1855-1857)caG>caA p.Q619Q ENOX1_ENST00000412891.1_Silent_p.Q619Q NM_001242863.1|NM_017993.3 NP_001229792.1|NP_060463.2 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 619 electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1) 34 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) CCGTGAATTCCTGTTTGAACA 0.438000 17 44 0 0 1 0 0 ABCC5 10057 broad.mit.edu 37 3 183660662 183660662 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr3:183660662G>A ENST00000334444.6 - 25 3787 c.3547C>T c.(3547-3549)Ccc>Tcc p.P1183S ABCC5_ENST00000265586.6_Missense_Mutation_p.P1140S NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 1183 integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TCAGGGGAGGGAGCCTTGTTC 0.552000 12 41 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76503639 76503639 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr17:76503639G>A ENST00000389840.5 - 28 4597 c.4473C>T c.(4471-4473)acC>acT p.T1491T DNAH17_ENST00000585328.1_Silent_p.T1492T dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GGTGGCTCCAGGTTCGCTGGA 0.597000 19 6 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2224599 2224599 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr12:2224599G>A ENST00000399655.1 + 2 524 c.259G>A c.(259-261)Ggg>Agg p.G87R CACNA1C_ENST00000399591.1_Missense_Mutation_p.G87R|CACNA1C_ENST00000399603.1_Missense_Mutation_p.G87R|CACNA1C_ENST00000399634.1_Missense_Mutation_p.G87R|CACNA1C_ENST00000402845.3_Missense_Mutation_p.G87R|CACNA1C_ENST00000399629.1_Missense_Mutation_p.G87R|CACNA1C_ENST00000399597.1_Missense_Mutation_p.G87R|CACNA1C_ENST00000344100.3_Missense_Mutation_p.G87R|CACNA1C_ENST00000399595.1_Missense_Mutation_p.G87R|CACNA1C_ENST00000399637.1_Missense_Mutation_p.G87R|CACNA1C_ENST00000399621.1_Missense_Mutation_p.G87R|CACNA1C_ENST00000399644.1_Missense_Mutation_p.G87R|CACNA1C_ENST00000335762.5_Missense_Mutation_p.G87R|CACNA1C_ENST00000406454.3_Missense_Mutation_p.G87R|CACNA1C_ENST00000399617.1_Missense_Mutation_p.G87R|CACNA1C_ENST00000327702.7_Missense_Mutation_p.G87R|CACNA1C_ENST00000399601.1_Missense_Mutation_p.G87R|CACNA1C_ENST00000399638.1_Missense_Mutation_p.G87R|CACNA1C_ENST00000399641.1_Missense_Mutation_p.G87R|CACNA1C_ENST00000347598.4_Missense_Mutation_p.G87R|CACNA1C_ENST00000399649.1_Missense_Mutation_p.G87R|CACNA1C_ENST00000399606.1_Missense_Mutation_p.G87R|CACNA1C_ENST00000480911.1_Missense_Mutation_p.G87R NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 87 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity p.G87W(3)|p.G117W(1) NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GCAGCAATATGGGAAACCCAA 0.662000 13 27 0 0 1 0 0 RPS9 6203 broad.mit.edu 37 19 54710250 54710250 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:54710250C>T ENST00000402367.1 + 4 442 c.327C>T c.(325-327)cgC>cgT p.R109R RPS9_ENST00000391753.2_Silent_p.R109R|RPS9_ENST00000441429.1_Silent_p.R109R|RPS9_ENST00000302907.4_Silent_p.R109R|RPS9_ENST00000391751.3_Intron|RPS9_ENST00000391752.1_Silent_p.R109R P46781 RS9_HUMAN ribosomal protein S9 109 S4 RNA-binding. endocrine pancreas development|positive regulation of cell proliferation|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus protein binding|rRNA binding|structural constituent of ribosome|translation regulator activity NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1) 20 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.18) TAGAGAGACGCCTGCAGACCC 0.602000 11 37 0 0 1 0 0 FAM124A 220108 broad.mit.edu 37 13 51826269 51826269 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr13:51826269C>T ENST00000322475.8 + 3 901 c.766C>T c.(766-768)Cct>Tct p.P256S FAM124A_ENST00000280057.6_Missense_Mutation_p.P292S NM_001242312.1 NP_001229241.1 Q86V42 F124A_HUMAN family with sequence similarity 124A 256 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1) 26 Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;4.25e-07) CCTGCCCAACCCTTGCAGCCC 0.627000 20 32 0 0 1 0 0 ZNF90 7643 broad.mit.edu 37 19 20229954 20229954 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:20229954C>T ENST00000418063.2 + 4 1703 c.1591C>T c.(1591-1593)Cat>Tat p.H531Y ZNF90_ENST00000474284.1_Intron NM_007138.1 NP_009069.1 Q03938 ZNF90_HUMAN zinc finger protein 90 531 Golgi apparatus|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|lung(2)|ovary(1)|skin(1) 5 TAAGATAATTCATACTGGAGC 0.413000 13 15 0 0 1 0 0 PPP2R2C 5522 broad.mit.edu 37 4 6349713 6349713 + Missense_Mutation SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:6349713T>C ENST00000335585.5 - 6 673 c.650A>G c.(649-651)aAc>aGc p.N217S PPP2R2C_ENST00000506140.1_Missense_Mutation_p.N210S|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.N200S|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.N210S|PPP2R2C_ENST00000382599.4_Missense_Mutation_p.N217S|PPP2R2C_ENST00000314348.8_5'UTR NM_181876.2 NP_870991.1 Q9Y2T4 2ABG_HUMAN protein phosphatase 2, regulatory subunit B, gamma 217 signal transduction protein phosphatase type 2A complex protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 28 GTCCTCCATGTTGGCCGGCTT 0.612000 22 22 0 0 1 0 0 NPY5R 4889 broad.mit.edu 37 4 164271506 164271506 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr4:164271506C>T ENST00000515560.1 + 4 1603 c.81C>T c.(79-81)ttC>ttT p.F27F NPY5R_ENST00000506953.1_Silent_p.F27F|NPY5R_ENST00000338566.3_Silent_p.F27F Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 27 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane p.F27F(1) NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) ATTCTGATTTCCCAGTCTGGG 0.393000 22 22 0 0 1 0 0 SIAH3 283514 broad.mit.edu 37 13 46357545 46357545 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr13:46357545C>T ENST00000400405.2 - 2 889 c.783G>A c.(781-783)gaG>gaA p.E261E NM_198849.2 NP_942146.2 Q8IW03 SIAH3_HUMAN siah E3 ubiquitin protein ligase family member 3 261 multicellular organismal development|ubiquitin-dependent protein catabolic process nucleus metal ion binding large_intestine(3)|lung(7)|ovary(1)|skin(1) 12 AGGGGAGGACCTCTGTCGCGG 0.602000 59 48 0 0 1 0 0 C10orf12 26148 broad.mit.edu 37 10 98743333 98743333 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:98743333C>T ENST00000286067.2 + 1 2293 c.2186C>T c.(2185-2187)tCa>tTa p.S729L NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 729 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) TTGACCTCTTCAACCTACAAC 0.488000 31 5 0 0 1 0 0 MCOLN1 57192 broad.mit.edu 37 19 7593125 7593125 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:7593125C>T ENST00000264079.6 + 7 984 c.859C>T c.(859-861)Ccc>Tcc p.P287S NM_020533.2 NP_065394.1 Q9GZU1 MCLN1_HUMAN mucolipin 1 287 calcium ion transport|cellular iron ion homeostasis|transferrin transport integral to plasma membrane|late endosome membrane|lysosomal membrane cation channel activity|iron ion transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GTGTAAGCACCCCAGTGTCTT 0.642000 18 26 0 0 1 0 0 ARPC2 10109 broad.mit.edu 37 2 219103464 219103464 + Silent SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:219103464T>C ENST00000295685.10 + 5 607 c.346T>C c.(346-348)Ttg>Ctg p.L116L ARPC2_ENST00000477992.1_3'UTR|ARPC2_ENST00000315717.5_Silent_p.L116L NM_005731.2 NP_005722.1 O15144 ARPC2_HUMAN actin related protein 2/3 complex, subunit 2, 34kDa 116 cellular component movement Arp2/3 protein complex|cell projection|Golgi apparatus actin binding|structural constituent of cytoskeleton cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1) 6 Renal(207;0.0474) Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103) AGCTGGCATGTTGAAGCGAAA 0.413000 88 35 0 0 1 0 0 MOV10L1 54456 broad.mit.edu 37 22 50547128 50547128 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:50547128G>A ENST00000262794.5 + 5 681 c.598G>A c.(598-600)Gaa>Aaa p.E200K MOV10L1_ENST00000395858.3_Missense_Mutation_p.E200K|MOV10L1_ENST00000545383.1_Missense_Mutation_p.E200K|MOV10L1_ENST00000540615.1_Missense_Mutation_p.E180K|MOV10L1_ENST00000395843.1_5'UTR NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 200 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding p.E200*(1) breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) GGTGTTAGAGGAAAGCATCTT 0.567000 17 39 0 0 1 0 0 MIR382 494331 broad.mit.edu 37 14 101520688 101520688 + RNA SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:101520688G>A ENST00000385009.2 - 0 35 NR_029874.1 TACTTATGACGAATCATTCAC 0.448000 11 16 0 0 1 0 0 TUB 7275 broad.mit.edu 37 11 8060512 8060512 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:8060512G>A ENST00000305253.4 + 1 333 c.92G>A c.(91-93)gGa>gAa p.G31E RP11-236J17.6_ENST00000526646.1_RNA|RP11-236J17.6_ENST00000528151.1_RNA|TUB_ENST00000534099.1_Intron NM_003320.4 NP_003311.2 P50607 TUB_HUMAN tubby bipartite transcription factor 0 phagocytosis|positive regulation of phagocytosis|response to stimulus cytoplasm|extracellular region|nucleus|plasma membrane breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17) Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184) TGGCCCATGGGATCTCAGCAT 0.572000 19 30 0 0 1 0 0 ZNF284 342909 broad.mit.edu 37 19 44590530 44590530 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:44590530C>T ENST00000421176.3 + 5 1115 c.899C>T c.(898-900)tCa>tTa p.S300L ZNF223_ENST00000591793.1_3'UTR NM_001037813.2 NP_001032902.1 Q2VY69 ZN284_HUMAN zinc finger protein 284 300 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0435) CATAGTAGATCAAATCTTAAT 0.388000 25 35 0 0 1 0 0 TOX2 84969 broad.mit.edu 37 20 42694688 42694688 + Missense_Mutation SNP C C A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr20:42694688C>A ENST00000358131.5 + 6 1451 c.1243C>A c.(1243-1245)Ccc>Acc p.P415T TOX2_ENST00000372999.1_Missense_Mutation_p.P391T|TOX2_ENST00000423191.1_Missense_Mutation_p.P391T|TOX2_ENST00000435864.2_Missense_Mutation_p.P311T|TOX2_ENST00000341197.3_Missense_Mutation_p.P433T NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 415 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) CCCTGTCCTGCCCACCCCCAT 0.672000 5 24 0.184627 0.184834 1 1 0 COL4A2 1284 broad.mit.edu 37 13 111088644 111088644 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr13:111088644G>A ENST00000360467.5 + 13 1061 c.755G>A c.(754-756)gGg>gAg p.G252E NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 252 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GGACCCAACGGGATTCCATCA 0.463000 15 19 0 0 1 0 0 RP11-435B5.5 0 broad.mit.edu 37 1 143391935 143391936 + RNA INS - - TG TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:143391935_143391936insTG ENST00000428624.1 + 0 2065 RP11-435B5.4_ENST00000423249.1_lincRNA ATATATATATATAAAGAGATTG 0.252 3 5 --- --- --- --- ARV1 64801 broad.mit.edu 37 1 231131567 231131567 + Frame_Shift_Del DEL A A - TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr1:231131567delA ENST00000310256.2 + 4 567 c.510delA c.(508-510)gcfs p.A170fs ARV1_ENST00000366658.2_Frame_Shift_Del_p.A130fs|ARV1_ENST00000497753.1_3'UTR NM_022786.1 NP_073623.1 Q9H2C2 ARV1_HUMAN ARV1 homolog (S. cerevisiae) 170 sphingolipid metabolic process integral to membrane breast(3)|large_intestine(2)|lung(2) 7 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233) CCATGACGGCAAAAAAAAAGC 0.383 9 82 --- --- --- --- NBEAL1 65065 broad.mit.edu 37 2 204073989 204073989 + Frame_Shift_Del DEL T T - TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr2:204073989delT ENST00000449802.1 + 52 7975 c.7642delT c.(7642-7644)ctfs p.S2548fs NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 2548 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TTTGGCTATATCTTGGGAAGG 0.418 67 27 --- --- --- --- FCHO2 115548 broad.mit.edu 37 5 72348292 72348292 + Frame_Shift_Del DEL A A - TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr5:72348292delA ENST00000430046.2 + 13 1247 c.1131delA c.(1129-1131)ttfs p.L377fs FCHO2_ENST00000341845.6_Frame_Shift_Del_p.L377fs|FCHO2_ENST00000512348.1_Frame_Shift_Del_p.L344fs NM_001146032.1|NM_138782.2 NP_001139504.1|NP_620137.2 Q0JRZ9 FCHO2_HUMAN FCH domain only 2 377 cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1) 17 Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;4.6e-53) TGGATGAATTAAAAGTATCTA 0.338 2 4 --- --- --- --- PCLO 27445 broad.mit.edu 37 7 82595413 82595413 + Frame_Shift_Del DEL C C - TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr7:82595413delC ENST00000423517.2 - 4 4028 c.3691delG c.(3691-3693)aafs p.E1231fs PCLO_ENST00000333891.8_Frame_Shift_Del_p.E1231fs NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1170 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGCTTTTTTTCTTCAGAACGT 0.393 8 174 --- --- --- --- MROH5 389690 broad.mit.edu 37 8 142459777 142459778 + RNA INS - - A rs144781370 by1000genomes TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr8:142459777_142459778insA ENST00000430863.1 - 0 2629_2630 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 GCAGACAGGCCAGCAGTGTGGT 0.678 5 2 --- --- --- --- BAAT 570 broad.mit.edu 37 9 104133226 104133227 + In_Frame_Ins INS - - GGAGAA TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr9:104133226_104133227insGGAGAA ENST00000259407.2 - 2 568_569 c.460_461insTTCTCC c.(460-462)tcc>TTCTCCtcc p.153_154insFS BAAT_ENST00000395051.3_In_Frame_Ins_p.153_154insFS NM_001127610.1|NM_001701.3 NP_001121082.1|NP_001692.1 Q14032 BAAT_HUMAN bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) 153 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) CTCACCTGGAGGGAGAAAGAGA 0.436 17 41 --- --- --- --- UPF2 26019 broad.mit.edu 37 10 12046612 12046614 + In_Frame_Del DEL AAA AAA - TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:12046612_12046614delAAA ENST00000356352.2 - 4 1892_1894 c.1419_1421delTTT c.(1417-1422)gag>ga p.DL473del UPF2_ENST00000357604.5_In_Frame_Del_p.DL473del|UPF2_ENST00000397053.2_In_Frame_Del_p.DL473del Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) 473 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) AAAAGCCTTCAAATCAATGAGGT 0.355 26 8 --- --- --- --- LOC399815 399815 broad.mit.edu 37 10 124654324 124654325 + RNA INS - - GTTACTAGTTTGTAACTACACTTTTTTTTTTCAA rs144762615 by1000genomes TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr10:124654324_124654325insGTTACTAGTTTGTAACTACACTTTTTTTTTTCAA ENST00000425266.1 + 0 291 TCTCCCTTCTTGTTACTAGTTT 0.386 5 6 --- --- --- --- CCDC88B 283234 broad.mit.edu 37 11 64112135 64112136 + Frame_Shift_Ins INS - - T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr11:64112135_64112136insT ENST00000356786.5 + 14 2166_2167 c.2122_2123insT c.(2122-2124)ccafs p.P708fs CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 708 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GGCTCTTGAGGTCCAGGTCTGG 0.624 10 20 --- --- --- --- OTX2-AS1 100309464 broad.mit.edu 37 14 57509058 57509064 + RNA DEL TCCAAGC TCCAAGC - TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr14:57509058_57509064delTCCAAGC ENST00000554725.1 + 0 344 CCAGAAGCCTTCCAAGCTCCAAGCCCT 0.483 4 8 --- --- --- --- SBNO2 22904 broad.mit.edu 37 19 1110855 1110855 + Frame_Shift_Del DEL G G - TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:1110855delG ENST00000361757.3 - 26 3154 c.2917delC c.(2917-2919)tgfs p.L973fs SBNO2_ENST00000438103.2_Frame_Shift_Del_p.L916fs|SBNO2_ENST00000587024.1_Frame_Shift_Del_p.L963fs NM_014963.2 NP_055778.2 Q9Y2G9 SBNO2_HUMAN strawberry notch homolog 2 (Drosophila) 973 macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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) TCCAGCCCCAGGATGCGGTTC 0.587 20 48 --- --- --- --- PLIN4 729359 broad.mit.edu 37 19 4517676 4517676 + Frame_Shift_Del DEL A A - TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:4517676delA ENST00000301286.3 - 1 40 c.41delT c.(40-42)tcfs p.F14fs NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 14 lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 GGCAGAGCTGAAGCCAGGCAG 0.692 2 4 --- --- --- --- GAPDHS 26330 broad.mit.edu 37 19 36029298 36029309 + Splice_Site DEL AATACATGGTCA AATACATGGTCA - TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr19:36029298_36029309delAATACATGGTCA ENST00000222286.4 + 3 451_458 c.342_splice c.e3+1 p.112_splice NM_014364.4 NP_055179.1 O14556 G3PT_HUMAN glyceraldehyde-3-phosphate dehydrogenase, spermatogenic 112 gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility cytosol glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(8) 11 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) NADH(DB00157) ATTGACCCGGAATACATGGTCAGTAGCTGGCA 0.571 7 13 --- --- --- --- IGLV7-46 28775 broad.mit.edu 37 22 22724183 22724183 + RNA DEL C C - TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5CD2F5CF-8947-42BD-AA32-0A7E50E4DD1B 5B34AC89-1869-4837-BB7F-77495A9411A2 g.chr22:22724183delC ENST00000390295.2 + 0 113 GACTCAGGAGCCCTCACTGAC 0.507 16 26 --- --- --- ---