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 SLC8A3 6547 broad.mit.edu 37 14 70634453 70634453 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr14:70634453G>A ENST00000381269.2 - 2 1440 c.687C>T c.(685-687)gtC>gtT p.V229V SLC8A3_ENST00000357887.3_Silent_p.V229V|SLC8A3_ENST00000534137.1_Silent_p.V229V|SLC8A3_ENST00000356921.2_Silent_p.V229V|SLC8A3_ENST00000528359.1_Silent_p.V229V NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 229 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) CCCAAACCTGGACCACACCAG 0.493000 4 34 0 0 0.00116845 0 0 MLXIPL 51085 broad.mit.edu 37 7 73010765 73010765 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:73010765G>A ENST00000313375.3 - 12 1914 c.1867C>T c.(1867-1869)Cct>Tct p.P623S MLXIPL_ENST00000414749.2_Missense_Mutation_p.P623S|MLXIPL_ENST00000395189.1_Missense_Mutation_p.P530S|MLXIPL_ENST00000429400.2_Missense_Mutation_p.P623S|MLXIPL_ENST00000434326.1_Missense_Mutation_p.P529S|MLXIPL_ENST00000354613.1_Missense_Mutation_p.P623S NM_032951.2|NM_032953.2 NP_116569.1|NP_116571.1 Q9NP71 WBS14_HUMAN MLX interacting protein-like 623 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) AGAGTCCCAGGGCCTGGCATG 0.657000 10 61 0 0 0.000978159 0 0 DPEP1 1800 broad.mit.edu 37 16 89703005 89703005 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:89703005C>T ENST00000393092.3 + 5 726 c.435C>T c.(433-435)tcC>tcT p.S145S DPEP1_ENST00000261615.4_Silent_p.S145S|DPEP1_ENST00000421184.1_Silent_p.S145S NM_004413.3 NP_004404.1 P16444 DPEP1_HUMAN dipeptidase 1 (renal) 145 proteolysis anchored to membrane|apical plasma membrane|microvillus membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1) 14 all_lung(18;0.0054)|all_hematologic(23;0.094) BRCA - Breast invasive adenocarcinoma(80;0.0258) Cilastatin(DB01597) GCGGCCACTCCATTGACAGCA 0.672000 7 73 0 0 0.000274275 0 0 KRTAP10-10 353333 broad.mit.edu 37 21 46058021 46058021 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr21:46058021C>T ENST00000380095.1 + 1 749 c.687C>T c.(685-687)ctC>ctT p.L229L TSPEAR_ENST00000323084.4_Intron NM_181688.1 NP_859016.1 P60014 KR10A_HUMAN keratin associated protein 10-10 229 keratin filament NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 13 GTGTTTCCCTCCTCTGCCGCC 0.682000 9 77 0 0 0.000274275 0 0 IREB2 3658 broad.mit.edu 37 15 78780592 78780592 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:78780592G>A ENST00000258886.8 + 15 2014 c.1865G>A c.(1864-1866)cGt>cAt p.R622H NM_004136.2 NP_004127.1 P48200 IREB2_HUMAN iron-responsive element binding protein 2 622 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) GATTGTGTTCGTGCCAATTAT 0.378000 11 100 0 0 0.000673444 0 0 BTBD11 121551 broad.mit.edu 37 12 108011150 108011150 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:108011150G>A ENST00000280758.5 + 9 2696 c.2168G>A c.(2167-2169)gGa>gAa p.G723E RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000490090.2_Missense_Mutation_p.G723E|BTBD11_ENST00000420571.2_Intron|BTBD11_ENST00000357167.4_Missense_Mutation_p.G260E NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 723 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 TACAGGAATGGAATTTCTACA 0.532000 18 94 0 0 0.000566183 0 0 ADCY8 114 broad.mit.edu 37 8 132052058 132052058 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:132052058G>A ENST00000286355.5 - 1 2614 c.522C>T c.(520-522)ttC>ttT p.F174F ADCY8_ENST00000377928.3_Silent_p.F174F NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 174 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding p.F174L(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TTTGGCCCAAGAAATAGCGCT 0.547000 HNSCC(32;0.087) 6 55 0 0 0.00116845 0 0 TAAR6 319100 broad.mit.edu 37 6 132891983 132891983 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:132891983G>A ENST00000275198.1 + 1 523 c.523G>A c.(523-525)Gat>Aat p.D175N NM_175067.1 NP_778237.1 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 175 plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) TGTCTATGACGATGGGCTGGA 0.458000 11 172 0 0 0.000151284 0 0 MYH15 22989 broad.mit.edu 37 3 108147413 108147413 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:108147413C>T ENST00000273353.3 - 28 3744 c.3688G>A c.(3688-3690)Gaa>Aaa p.E1230K NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1230 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 TTGTCTTTTTCCAGTTTCTGC 0.488000 12 121 0 0 0.000219431 0 0 GAREM 64762 broad.mit.edu 37 18 29848148 29848148 + Missense_Mutation SNP T T C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr18:29848148T>C ENST00000399218.4 - 6 2369 c.2314A>G c.(2314-2316)Atg>Gtg p.M772V GAREM_ENST00000269209.6_Missense_Mutation_p.M773V NM_001242409.1|NM_022751.2 NP_001229338.1|NP_073588.1 GRB2 associated, regulator of MAPK1 ATGTCCTGCATGCCCTTTTTA 0.547000 7 64 0 0 0.000157383 0 0 SLC2A8 29988 broad.mit.edu 37 9 130167832 130167832 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:130167832C>T ENST00000373371.3 + 9 1373 c.1284C>T c.(1282-1284)ttC>ttT p.F428F SLC2A8_ENST00000373352.1_Silent_p.F165F|SLC2A8_ENST00000373360.3_Intron NM_001271712.1|NM_014580.3 NP_001258641.1|NP_055395.2 Q9NY64 GTR8_HUMAN solute carrier family 2 (facilitated glucose transporter), member 8 428 cytoplasmic vesicle membrane|integral to plasma membrane D-glucose transmembrane transporter activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1) 11 CCAAGGAGTTCAGCAGCCTCA 0.567000 6 48 0 0 0.000157383 0 0 A1CF 29974 broad.mit.edu 37 10 52575824 52575824 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:52575824G>A ENST00000395489.2 - 11 1458 c.1062C>T c.(1060-1062)ttC>ttT p.F354F ASAH2B_ENST00000483649.1_3'UTR|A1CF_ENST00000373997.3_Silent_p.F361F|A1CF_ENST00000395495.1_Silent_p.F306F|A1CF_ENST00000373995.3_Silent_p.F369F|A1CF_ENST00000373993.1_Silent_p.F361F|A1CF_ENST00000374001.1_Silent_p.F361F|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000282641.2_Silent_p.F361F NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 361 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 TGGTGGCTGGGAAATGAAGAC 0.488000 18 60 0 0 0.000958276 0 0 GALNT12 79695 broad.mit.edu 37 9 101597623 101597623 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:101597623G>A ENST00000375011.3 + 5 1010 c.1010G>A c.(1009-1011)gGa>gAa p.G337E NM_024642.4 NP_078918.3 Q8IXK2 GLT12_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) 337 Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(62;0.0559) GTTTGGGGAGGAGAAAACCTC 0.398000 13 123 0 0 0.000308642 0 0 WFS1 7466 broad.mit.edu 37 4 6303256 6303256 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:6303256C>T ENST00000226760.1 + 8 1904 c.1734C>T c.(1732-1734)gcC>gcT p.A578A WFS1_ENST00000503569.1_Silent_p.A578A NM_001145853.1|NM_006005.3 NP_001139325.1|NP_005996.2 O76024 WFS1_HUMAN Wolfram syndrome 1 (wolframin) 578 endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 21 Colorectal(103;0.0512) CCGGCCTGGCCCTGGTGGGCG 0.662000 59 421 0 0 0.000781405 0 0 EPHA7 2045 broad.mit.edu 37 6 93967960 93967960 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:93967960C>T ENST00000369303.4 - 11 2151 c.1967G>A c.(1966-1968)gGg>gAg p.G656E NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 656 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) ATCTCTTTTCCCTGGAAGTTT 0.383000 8 85 0 0 0.000157383 0 0 DNAH3 55567 broad.mit.edu 37 16 21136651 21136651 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:21136651C>T ENST00000261383.3 - 9 1248 c.1249G>A c.(1249-1251)Gag>Aag p.E417K CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Missense_Mutation_p.E417K NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 417 Stem (By similarity). 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) ATCCAGTGCTCCTTCCGTGAG 0.498000 7 91 0 0 0.000274275 0 0 PTCD3 55037 broad.mit.edu 37 2 86344204 86344204 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:86344204C>T ENST00000254630.7 + 6 402 c.336C>T c.(334-336)tcC>tcT p.S112S PTCD3_ENST00000465560.1_3'UTR|PTCD3_ENST00000409277.3_Silent_p.S112S NM_017952.5 NP_060422.4 Q96EY7 PTCD3_HUMAN pentatricopeptide repeat domain 3 112 mitochondrion protein binding NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1) 22 CAAAGAAATCCGGGGAGAATG 0.328000 4 37 0 0 0.00024832 0 0 ELAVL2 1993 broad.mit.edu 37 9 23762043 23762043 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:23762043C>T ENST00000397312.2 - 2 464 c.190G>A c.(190-192)Gaa>Aaa p.E64K ELAVL2_ENST00000544538.1_Missense_Mutation_p.E64K|ELAVL2_ENST00000380110.4_Missense_Mutation_p.E93K|ELAVL2_ENST00000380117.1_Missense_Mutation_p.E64K|ELAVL2_ENST00000223951.6_Missense_Mutation_p.E64K NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 64 RRM 1. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) GACTCTATTTCACCAATGCTC 0.388000 7 32 0 0 0.000274275 0 0 VN1R2 317701 broad.mit.edu 37 19 53762333 53762333 + Nonsense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:53762333G>A ENST00000341702.3 + 1 789 c.705G>A c.(703-705)tgG>tgA p.W235* NM_173856.2 NP_776255.2 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 235 response to pheromone integral to membrane|plasma membrane pheromone receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) CTGGCAAATGGAGCAACAACA 0.423000 15 73 0 0 0.000219431 0 0 EXOC3L1 283849 broad.mit.edu 37 16 67221661 67221661 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:67221661C>T ENST00000314586.6 - 5 747 c.507G>A c.(505-507)ctG>ctA p.L169L EXOC3L1_ENST00000562887.1_Intron NM_178516.3 NP_848611.2 Q86VI1 EX3L1_HUMAN exocyst complex component 3-like 1 169 Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity). exocytosis|peptide hormone secretion exocyst|stored secretory granule|transport vesicle breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 21 GCAGCTGCTCCAGCTCCCGAA 0.597000 14 100 0 0 0.000219431 0 0 NAGPA 51172 broad.mit.edu 37 16 5075593 5075593 + Missense_Mutation SNP C C G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:5075593C>G ENST00000312251.3 - 10 1453 c.1434G>C c.(1432-1434)agG>agC p.R478S NAGPA_ENST00000381955.3_Missense_Mutation_p.R444S|RP11-165E7.1_ENST00000588778.1_RNA NM_016256.3 NP_057340.2 Q9UK23 NAGPA_HUMAN N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase 478 carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome Golgi cisterna membrane|integral to membrane N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1) 12 N-Acetyl-D-glucosamine(DB00141) GGCGCCGGTTCCTCTCTGCTC 0.652000 10 69 0 0 0.000442599 0 0 PLXND1 23129 broad.mit.edu 37 3 129304873 129304873 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:129304873G>A ENST00000393239.1 - 5 1951 c.1773C>T c.(1771-1773)acC>acT p.T591T PLXND1_ENST00000324093.4_Silent_p.T591T Q9Y4D7 PLXD1_HUMAN plexin D1 591 axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 CGCTGGCACTGGTCCAGAAAT 0.657000 32 117 0 0 0.000692331 0 0 HRNR 388697 broad.mit.edu 37 1 152192792 152192792 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:152192792C>T ENST00000368801.2 - 3 1388 c.1313G>A c.(1312-1314)aGc>aAc p.S438N FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 438 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTGGCCGGAGCTGGGAGACTG 0.617000 8 91 0 0 0.000274275 0 0 AQP9 366 broad.mit.edu 37 15 58430789 58430789 + Missense_Mutation SNP G G A rs150714814 TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:58430789G>A ENST00000219919.4 + 1 395 c.25G>A c.(25-27)Gga>Aga p.G9R AQP9_ENST00000558772.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.G9R|AQP9_ENST00000559443.1_3'UTR|ALDH1A2_ENST00000558231.1_Intron NM_020980.3 NP_066190.2 O43315 AQP9_HUMAN aquaporin 9 9 cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis integral to plasma membrane|intracellular membrane-bounded organelle amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1) 21 GBM - Glioblastoma multiforme(80;0.16) AGCAGAAAAGGGAAAAAGCTT 0.473000 6 67 0 0 0.00116845 0 0 IPO9 55705 broad.mit.edu 37 1 201825035 201825035 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:201825035C>T ENST00000361565.4 + 10 1164 c.1095C>T c.(1093-1095)atC>atT p.I365I NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 365 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 ATTATATTATCCTGTACATGC 0.343000 10 77 0 0 0.000151284 0 0 IGLV5-52 28779 broad.mit.edu 37 22 22673457 22673457 + RNA SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr22:22673457C>T ENST00000390289.2 + 0 255 LL22NC03-80A10.6_ENST00000426066.1_RNA CTCTGGAGTTCCCAGCCGCTT 0.542000 9 81 0 0 0.000274275 0 0 DMBT1 1755 broad.mit.edu 37 10 124390648 124390648 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:124390648G>A ENST00000338354.3 + 46 5916 c.5810G>A c.(5809-5811)gGa>gAa p.G1937E DMBT1_ENST00000330163.4_Missense_Mutation_p.G1309E|DMBT1_ENST00000359586.6_Missense_Mutation_p.G657E|DMBT1_ENST00000368955.3_Missense_Mutation_p.G1927E|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1927E|DMBT1_ENST00000368956.2_Missense_Mutation_p.G1309E|DMBT1_ENST00000368909.3_Missense_Mutation_p.G1937E Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1937 SRCR 14. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TCAGCCCTTGGAAATGCATAT 0.582000 11 57 0 0 0.000673444 0 0 DCTN5 84516 broad.mit.edu 37 16 23677033 23677033 + Silent SNP C C A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:23677033C>A ENST00000300087.2 + 5 586 c.435C>A c.(433-435)gtC>gtA p.V145V DCTN5_ENST00000563998.1_Silent_p.V145V|DCTN5_ENST00000568589.1_Silent_p.V145V NM_001199743.1|NM_032486.3 NP_001186672.1|NP_115875.1 Q9BTE1 DCTN5_HUMAN dynactin 5 (p25) 145 centrosome transferase activity endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 10 GBM - Glioblastoma multiforme(48;0.0156) CATTCACTGTCTTCTCAGGCT 0.403000 6 93 0.000274275 0.00226146 0.000274275 1 0 CFI 3426 broad.mit.edu 37 4 110687842 110687842 + Nonsense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:110687842G>A ENST00000394634.2 - 2 403 c.196C>T c.(196-198)Cag>Tag p.Q66* CFI_ENST00000394635.3_Nonsense_Mutation_p.Q66*|CFI_ENST00000512148.1_Nonsense_Mutation_p.Q66*|CFI_ENST00000510800.1_Nonsense_Mutation_p.Q66* NM_000204.3 NP_000195.2 P05156 CFAI_HUMAN complement factor I 66 Kazal-like. complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) TTTGGGCACTGATACGGTAGT 0.453000 6 65 0 0 8.12818e-05 0 0 SPTLC3 55304 broad.mit.edu 37 20 13029765 13029765 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:13029765G>A ENST00000399002.2 + 2 564 c.290G>A c.(289-291)aGa>aAa p.R97K SPTLC3_ENST00000378194.4_Missense_Mutation_p.R97K|SPTLC3_ENST00000476791.1_3'UTR NM_018327.2 NP_060797.2 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base subunit 3 97 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) GCTGTGGAAAGAAAAGAACAA 0.428000 6 38 0 0 8.12818e-05 0 0 INSRR 3645 broad.mit.edu 37 1 156813018 156813018 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:156813018G>A ENST00000368195.3 - 17 3300 c.2904C>T c.(2902-2904)gtC>gtT p.V968V NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 968 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) ATTCATCAGGGACATACACTG 0.567000 6 25 0 0 8.12818e-05 0 0 RSPH6A 81492 broad.mit.edu 37 19 46307762 46307762 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:46307762G>A ENST00000221538.3 - 3 1543 c.1401C>T c.(1399-1401)gtC>gtT p.V467V RSPH6A_ENST00000600188.1_Silent_p.V203V|RSPH6A_ENST00000597055.1_Silent_p.V467V NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 467 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 GGTAGCTGACGACTGGCGTGT 0.657000 13 89 0 0 0.000151284 0 0 TAF7 6879 broad.mit.edu 37 5 140699461 140699461 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:140699461C>T ENST00000313368.5 - 1 869 c.151G>A c.(151-153)Ggg>Agg p.G51R NM_005642.2 NP_005633.2 Q15545 TAF7_HUMAN TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa 51 negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCATGACGCCCATCAGGATGT 0.458000 13 87 0 0 0.000151284 0 0 DCHS2 54798 broad.mit.edu 37 4 155219058 155219058 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:155219058C>T ENST00000357232.3 - 18 5042 c.5043G>A c.(5041-5043)aaG>aaA p.K1681K NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1681 Cadherin 14. 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) TGAAGGAAATCTTTACATCTT 0.453000 5 44 0 0 0.000602214 0 0 TTLL6 284076 broad.mit.edu 37 17 46847099 46847099 + Missense_Mutation SNP T T G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:46847099T>G ENST00000393382.3 - 14 2542 c.2401A>C c.(2401-2403)Aac>Cac p.N801H TTLL6_ENST00000433608.2_Missense_Mutation_p.N494H NM_001130918.1 NP_001124390.1 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 753 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity p.N479D(1) endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 CGTGACAGGTTATTCATCCCC 0.522000 18 70 0 0 0.000958276 0 0 ADAM28 10863 broad.mit.edu 37 8 24187570 24187570 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:24187570C>T ENST00000265769.4 + 11 1155 c.1045C>T c.(1045-1047)Cat>Tat p.H349Y ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000437154.2_Missense_Mutation_p.H349Y|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.H116Y|ADAM28_ENST00000397649.3_Missense_Mutation_p.H96Y NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 349 Peptidase M12B. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding p.H349Y(1) 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) TGGAATGTTTCATGACGACTA 0.458000 5 40 0 0 0.000602214 0 0 TLL2 7093 broad.mit.edu 37 10 98170121 98170121 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:98170121C>T ENST00000357947.3 - 9 1384 c.1159G>A c.(1159-1161)Gaa>Aaa p.E387K TLL2_ENST00000469598.1_5'UTR NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 387 CUB 1. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CCTACCTTTTCCCCTGGGGTG 0.522000 8 35 0 0 0.000978159 0 0 SNTG1 54212 broad.mit.edu 37 8 51705281 51705281 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:51705281C>T ENST00000522124.1 + 19 2107 c.1446C>T c.(1444-1446)ttC>ttT p.F482F SNTG1_ENST00000518864.1_Silent_p.F482F|SNTG1_ENST00000276467.5_Silent_p.F445F|SNTG1_ENST00000517473.1_Silent_p.F445F NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 482 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) TTCATTCCTTCTTTGCTGCCA 0.388000 6 50 0 0 8.12818e-05 0 0 OR2A7 401427 broad.mit.edu 37 7 143956685 143956685 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:143956685G>A ENST00000493325.1 - 1 130 c.37C>T c.(37-39)Cta>Tta p.L13L RP4-798C17.6_ENST00000489488.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-545C24.1_ENST00000460955.1_RNA|RP4-798C17.6_ENST00000461843.1_RNA|RP4-798C17.6_ENST00000463561.1_RNA|RP4-798C17.6_ENST00000478806.1_RNA NM_001005328.1 NP_001005328.1 Q96R45 OR2A7_HUMAN olfactory receptor, family 2, subfamily A, member 7 13 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(1)|lung(3)|ovary(1) 6 Melanoma(164;0.14) AATCCCAGTAGGAGGAACTCT 0.473000 8 260 0 0 0.000673444 0 0 KCNC2 3747 broad.mit.edu 37 12 75441996 75441996 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:75441996C>T ENST00000549446.1 - 4 2397 c.1717G>A c.(1717-1719)Gaa>Aaa p.E573K KCNC2_ENST00000550433.1_Missense_Mutation_p.E573K|KCNC2_ENST00000341669.3_Missense_Mutation_p.E573K|KCNC2_ENST00000540018.1_Intron|KCNC2_ENST00000350228.2_Intron|KCNC2_ENST00000548513.1_Missense_Mutation_p.E573K|KCNC2_ENST00000298972.1_Missense_Mutation_p.E573K|KCNC2_ENST00000393288.2_Missense_Mutation_p.E573K NM_001260497.1|NM_139137.3 NP_001247426.1|NP_631875.1 Q96PR1 KCNC2_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 2 573 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 AAACATGTTTCCCCTCTTCTG 0.483000 4 48 0 0 0.00116845 0 0 DSP 1832 broad.mit.edu 37 6 7583007 7583007 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:7583007C>T ENST00000379802.3 + 24 5853 c.5512C>T c.(5512-5514)Cgt>Tgt p.R1838C DSP_ENST00000418664.2_Missense_Mutation_p.R1239C NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1838 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton p.R1838C(1) 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) TGAGCTGAATCGTGCAAAATC 0.483000 17 161 0 0 0.000958276 0 0 OR2T1 26696 broad.mit.edu 37 1 248570111 248570111 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:248570111G>A ENST00000366474.1 + 1 816 c.816G>A c.(814-816)ctG>ctA p.L272L NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 272 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCCGAATCCTGACTACAGTTC 0.517000 16 59 0 0 0.00074312 0 0 BCMO1 53630 broad.mit.edu 37 16 81303947 81303947 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:81303947G>A ENST00000258168.2 + 7 1488 c.1027G>A c.(1027-1029)Gac>Aac p.D343N BCMO1_ENST00000425577.2_Missense_Mutation_p.D274N NM_017429.2 NP_059125.2 Q9HAY6 BCDO1_HUMAN beta-carotene 15,15'-monooxygenase 1 343 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1) 23 CCTGAACCAGGACTTCAAGGA 0.577000 14 74 0 0 0.000219431 0 0 DNAH7 56171 broad.mit.edu 37 2 196651813 196651813 + Nonsense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:196651813C>T ENST00000312428.6 - 58 10899 c.10799G>A c.(10798-10800)tGg>tAg p.W3600* DNAH7_ENST00000409063.1_Nonsense_Mutation_p.W83* NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3600 AAA 6 (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 AGGAATATTCCACCCTAGGGG 0.403000 10 76 0 0 0.000978159 0 0 CFB 629 broad.mit.edu 37 6 31905185 31905185 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:31905185G>A ENST00000456570.1 + 5 674 c.619G>A c.(619-621)Gaa>Aaa p.E207K CFB_ENST00000477310.1_Missense_Mutation_p.E178K|C2_ENST00000299367.5_Missense_Mutation_p.E360K|C2_ENST00000452323.2_Missense_Mutation_p.E146K|C2_ENST00000442278.2_Missense_Mutation_p.E228K|CFB_ENST00000556679.1_Missense_Mutation_p.E207K|C2_ENST00000469372.1_Missense_Mutation_p.E114K P00751 CFAB_HUMAN complement factor B 373 Sushi 3. 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 CCTCGGCATGGAAACGATGGC 0.488000 70 604 0 0 0.000781405 0 0 H3F3C 440093 broad.mit.edu 37 12 31944884 31944884 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:31944884C>T ENST00000340398.3 - 1 291 c.217G>A c.(217-219)Gag>Aag p.E73K NM_001013699.2 NP_001013721.2 Q6NXT2 H3C_HUMAN H3 histone, family 3C 73 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 18 TGCGCGATCTCCCTCACCAAC 0.597000 HNSCC(67;0.2) 7 85 0 0 0.000157383 0 0 USP42 84132 broad.mit.edu 37 7 6196551 6196551 + Missense_Mutation SNP T T C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:6196551T>C ENST00000306177.5 + 16 3966 c.3808T>C c.(3808-3810)Ttc>Ctc p.F1270L NM_032172.2 NP_115548.1 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 1270 cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 35 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) TGTCGCCCAGTTCCGGAGAGC 0.512000 6 29 0 0 8.12818e-05 0 0 CRX 1406 broad.mit.edu 37 19 48342936 48342936 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:48342936C>T ENST00000221996.7 + 4 818 c.612C>T c.(610-612)tcC>tcT p.S204S CRX_ENST00000539067.1_Silent_p.S204S|TPRX2P_ENST00000535362.1_Intron NM_000554.4 NP_000545.1 O43186 CRX_HUMAN cone-rod homeobox 204 organ morphogenesis|response to stimulus|visual perception leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1) 23 all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521) TCTGCTCTTCCCCCTCCGCCT 0.677000 10 72 0 0 0.000442599 0 0 KRT34 3885 broad.mit.edu 37 17 39537398 39537398 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:39537398C>T ENST00000394001.1 - 3 654 c.624G>A c.(622-624)ctG>ctA p.L208L NM_021013.3 NP_066293.2 O76011 KRT34_HUMAN keratin 34 208 Coil 1B.|Rod. epidermis development intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(137;0.000496) TCAGCTCATCCAGGATCCTGC 0.557000 6 76 0 0 0.00116845 0 0 STAT3 6774 broad.mit.edu 37 17 40474352 40474352 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:40474352G>A ENST00000264657.5 - 21 2361 c.2049C>T c.(2047-2049)ttC>ttT p.F683F STAT3_ENST00000588969.1_Silent_p.F683F|STAT3_ENST00000389272.3_Silent_p.F585F|STAT3_ENST00000585517.1_Silent_p.F683F|STAT3_ENST00000404395.3_Silent_p.F683F NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 683 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding p.F683L(1) breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) AATACTTTCCGAATGCCTCCT 0.458000 Hyperimmunoglobulin E Recurrent Infection Syndrome 15 120 0 0 0.000422831 0 0 SLC6A18 348932 broad.mit.edu 37 5 1240661 1240661 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:1240661G>A ENST00000324642.3 + 7 984 c.861G>A c.(859-861)aaG>aaA p.K287K SLC6A18_ENST00000296821.4_Silent_p.K282K NM_182632.2 NP_872438.2 Q96N87 S6A18_HUMAN solute carrier family 6 (neutral amino acid transporter), member 18 287 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) ACTGCCAGAAGGATGCGGTGG 0.577000 5 59 0 0 0.00116845 0 0 RP1 6101 broad.mit.edu 37 8 55540803 55540803 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:55540803G>A ENST00000220676.1 + 4 4509 c.4361G>A c.(4360-4362)aGc>aAc p.S1454N NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1454 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) ATAACCAACAGCATGACATCA 0.358000 5 38 0 0 0.000602214 0 0 MUC16 94025 broad.mit.edu 37 19 9065721 9065721 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:9065721G>A ENST00000397910.4 - 3 21928 c.21725C>T c.(21724-21726)tCc>tTc p.S7242F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7244 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 GCTCAGGGAGGAAATTGACTC 0.468000 18 146 0 0 0.000566183 0 0 MAP9 79884 broad.mit.edu 37 4 156294382 156294382 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:156294382G>A ENST00000311277.4 - 4 650 c.387C>T c.(385-387)ttC>ttT p.F129F AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000515654.1_Silent_p.F129F|MAP9_ENST00000379248.2_Silent_p.F57F NM_001039580.1 NP_001034669.1 Q49MG5 MAP9_HUMAN microtubule-associated protein 9 129 cell division|mitosis cytoplasm|microtubule|spindle NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.143) GAGATTCAGAGAAAGATTTTA 0.338000 8 89 0 0 0.000157383 0 0 TMEM55A 55529 broad.mit.edu 37 8 92032399 92032399 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:92032399G>A ENST00000285419.3 - 3 662 c.348C>T c.(346-348)tgC>tgT p.C116C NM_018710.2 NP_061180.1 Q8N4L2 TM55A_HUMAN transmembrane protein 55A 116 integral to membrane|late endosome membrane|lysosomal membrane hydrolase activity breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(11;0.033) TGGGTCTTGGGCATCCTATTC 0.383000 11 44 0 0 0.000308642 0 0 PCDHB6 56130 broad.mit.edu 37 5 140531337 140531337 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:140531337C>T ENST00000231136.1 + 1 1499 c.1499C>T c.(1498-1500)tCc>tTc p.S500F PCDHB6_ENST00000543635.1_Missense_Mutation_p.S364F NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 500 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCCTCTCTTCCCTGGTCTCC 0.652000 23 150 0 0 0.000227799 0 0 CACNA1E 777 broad.mit.edu 37 1 181725156 181725156 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:181725156G>A ENST00000526775.1 + 28 4162 c.3997G>A c.(3997-3999)Gaa>Aaa p.E1333K CACNA1E_ENST00000358338.5_Missense_Mutation_p.E1284K|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E959K|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E1352K|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E1352K|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E1303K|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E1333K NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1352 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 GAAGCGCCATGAATTCCACTA 0.498000 7 37 0 0 8.12818e-05 0 0 RBM28 55131 broad.mit.edu 37 7 127970892 127970892 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:127970892G>A ENST00000223073.1 - 10 1223 c.1109C>T c.(1108-1110)cCa>cTa p.P370L RBM28_ENST00000415472.2_Missense_Mutation_p.P229L NM_018077.2 NP_060547.2 Q9NW13 RBM28_HUMAN RNA binding motif protein 28 370 RRM 3. mRNA processing|RNA splicing Golgi apparatus|nucleolus|spliceosomal complex nucleotide binding|RNA binding breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2) 21 CTCTGTGTCTGGATGCAAGAC 0.468000 11 75 0 0 0.00010058 0 0 MPP7 143098 broad.mit.edu 37 10 28347533 28347533 + Splice_Site SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:28347533C>T ENST00000337532.5 - 16 1575 c.e16-1 MPP7_ENST00000375719.3_Splice_Site|MPP7_ENST00000375732.1_Splice_Site|MPP7_ENST00000445954.2_Splice_Site|MPP7_ENST00000540098.1_Splice_Site NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 TTCAATAAACCTGTAAAAAAT 0.313000 14 113 0 0 0.000151284 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T A rs11554290 TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:115256529T>A ENST00000369535.4 - 3 435 c.182A>T c.(181-183)cAa>cTa p.Q61L 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.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(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) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 32 130 0 0 0.000953801 0 0 TOMM40L 84134 broad.mit.edu 37 1 161197992 161197992 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:161197992C>T ENST00000367988.3 + 7 770 c.501C>T c.(499-501)caC>caT p.H167H TOMM40L_ENST00000545897.1_Silent_p.H133H|TOMM40L_ENST00000474486.1_3'UTR|TOMM40L_ENST00000367987.1_Silent_p.H167H NM_032174.4 NP_115550.2 Q969M1 TM40L_HUMAN translocase of outer mitochondrial membrane 40 homolog (yeast)-like 167 protein transport mitochondrial outer membrane|pore complex porin activity|voltage-gated anion channel activity large_intestine(2)|liver(4)|lung(4) 10 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) TGGTTGCTCACTTCCTGCAGA 0.577000 OREG0013943 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 53 0 0 0.000673444 0 0 CCDC63 160762 broad.mit.edu 37 12 111330918 111330918 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:111330918C>T ENST00000308208.5 + 9 1355 c.1113C>T c.(1111-1113)tcC>tcT p.S371S CCDC63_ENST00000545036.1_Silent_p.S331S|CCDC63_ENST00000552694.1_Silent_p.S292S NM_152591.1 NP_689804.1 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 371 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 AGAAATTGTCCCACGATGACA 0.562000 11 99 0 0 0.000219431 0 0 HLA-DQA2 3118 broad.mit.edu 37 6 32714163 32714163 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:32714163C>T ENST00000374940.3 + 4 862 c.760C>T c.(760-762)Ctc>Ttc p.L254F NM_020056.4 NP_064440.1 P01906 DQA2_HUMAN major histocompatibility complex, class II, DQ alpha 2 254 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity endometrium(2)|large_intestine(3)|lung(7)|skin(1) 13 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ACACCAAGGGCTCTTATGAAT 0.532000 10 124 0 0 0.000673444 0 0 LCP2 3937 broad.mit.edu 37 5 169702336 169702336 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:169702336G>A ENST00000046794.5 - 5 889 c.274C>T c.(274-276)Cct>Tct p.P92S NM_005565.3 NP_005556.1 Q13094 LCP2_HUMAN lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) 92 immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway cytosol protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 23 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) OV - Ovarian serous cystadenocarcinoma(192;0.247) GTCTCTTCAGGAAACCGCGGG 0.493000 8 76 0 0 0.000673444 0 0 TRAPPC9 83696 broad.mit.edu 37 8 141445257 141445257 + Silent SNP G G A rs138528079 byFrequency TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:141445257G>A ENST00000389328.4 - 4 1121 c.1107C>T c.(1105-1107)ttC>ttT p.F369F TRAPPC9_ENST00000389327.3_Silent_p.F271F|TRAPPC9_ENST00000438773.2_Silent_p.F271F NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 271 cell differentiation endoplasmic reticulum|Golgi apparatus breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 TGCTGCCCTGGAACCTCCGAG 0.527000 18 108 0 0 0.00121646 0 0 MUC16 94025 broad.mit.edu 37 19 9087495 9087495 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:9087495C>T ENST00000397910.4 - 1 4523 c.4320G>A c.(4318-4320)ggG>ggA p.G1440G NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1440 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 CCAGGGGTTCCCCTGGGACAT 0.522000 10 74 0 0 0.000442599 0 0 CNTN2 6900 broad.mit.edu 37 1 205034331 205034331 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:205034331C>T ENST00000331830.4 + 13 1920 c.1636C>T c.(1636-1638)Ctg>Ttg p.L546L NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 546 Ig-like C2-type 6. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CACCTGGACCCTGGACGACTT 0.587000 13 150 0 0 0.000958276 0 0 YLPM1 56252 broad.mit.edu 37 14 75248574 75248574 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr14:75248574C>T ENST00000325680.7 + 4 1952 c.1828C>T c.(1828-1830)Ctc>Ttc p.L610F YLPM1_ENST00000552421.1_Missense_Mutation_p.L610F|YLPM1_ENST00000238571.3_Intron NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 415 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) CCCACCATCTCTCTCTTCAAC 0.587000 13 68 0 0 0.00010058 0 0 ITGA5 3678 broad.mit.edu 37 12 54797093 54797093 + Nonsense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:54797093G>A ENST00000293379.4 - 18 2053 c.1792C>T c.(1792-1794)Cga>Tga p.R598* 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) 598 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 AGTTTGTCTCGAAATTCTGAC 0.572000 20 164 0 0 0.000295444 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71491667 71491667 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:71491667G>A ENST00000265382.3 + 6 580 c.275G>A c.(274-276)cGa>cAa p.R92Q PIP5K1B_ENST00000541509.1_Missense_Mutation_p.R92Q NM_003558.2 NP_003549.1 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, beta 92 PIPK. endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) TTAGCATTCCGATATTTCAGA 0.373000 10 62 0 0 0.000442599 0 0 HGF 3082 broad.mit.edu 37 7 81372765 81372765 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:81372765C>T ENST00000222390.5 - 7 995 c.769G>A c.(769-771)Gat>Aat p.D257N HGF_ENST00000444829.2_Missense_Mutation_p.D257N|HGF_ENST00000453411.1_Missense_Mutation_p.D252N|HGF_ENST00000457544.2_Missense_Mutation_p.D252N NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 257 Kringle 2. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 CAATAATTATCATCAAAGCCC 0.488000 11 47 0 0 0.000978159 0 0 ZNF461 92283 broad.mit.edu 37 19 37129927 37129927 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:37129927G>A ENST00000588268.1 - 6 1547 c.1320C>T c.(1318-1320)ccC>ccT p.P440P ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Silent_p.P417P NM_153257.2 NP_694989.2 Q8TAF7 ZN461_HUMAN zinc finger protein 461 440 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2) 29 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) TACACTCATAGGGTTTCTCAC 0.398000 6 54 0 0 0.000157383 0 0 SRGAP3 9901 broad.mit.edu 37 3 9068638 9068638 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:9068638G>A ENST00000383836.3 - 13 2008 c.1581C>T c.(1579-1581)atC>atT p.I527I SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Silent_p.I503I NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 527 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) TGATGTAACGGATGCAGCTCT 0.423000 T RAF1 pilocytic astrocytoma 37 141 0 0 0.000781405 0 0 PROM1 8842 broad.mit.edu 37 4 15987392 15987392 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:15987392G>A ENST00000505450.1 - 21 2856 c.2244C>T c.(2242-2244)atC>atT p.I748I PROM1_ENST00000539194.1_Silent_p.I757I|PROM1_ENST00000540805.1_Silent_p.I757I|PROM1_ENST00000447510.2_Silent_p.I757I|PROM1_ENST00000510224.1_Silent_p.I757I|PROM1_ENST00000508167.1_Silent_p.I748I|PROM1_ENST00000543373.1_Silent_p.I748I NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 757 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 CAGAGAACTCGATCCACTGCA 0.323000 4 21 0 0 0.000602214 0 0 TCN1 6947 broad.mit.edu 37 11 59622251 59622251 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:59622251G>A ENST00000257264.3 - 7 1099 c.995C>T c.(994-996)tCa>tTa p.S332L TCN1_ENST00000532419.1_5'UTR NM_001062.3 NP_001053.2 P20061 TCO1_HUMAN transcobalamin I (vitamin B12 binding protein, R binder family) 332 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GGAGATATATGATTGTGAGTC 0.413000 10 56 0 0 0.000673444 0 0 PPARD 5467 broad.mit.edu 37 6 35392547 35392547 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:35392547C>T ENST00000311565.4 + 8 1418 c.1069C>T c.(1069-1071)Ctg>Ttg p.L357L PPARD_ENST00000448077.2_Silent_p.L318L|PPARD_ENST00000360694.3_Silent_p.L357L|PPARD_ENST00000337400.2_Silent_p.L357L|PPARD_ENST00000418635.2_Silent_p.L259L|PPARD_ENST00000444397.1_Silent_p.L357L|PPARD_ENST00000540939.1_Silent_p.L254L NM_001171818.1 NP_001165289.1 Q03181 PPARD_HUMAN peroxisome proliferator-activated receptor delta 357 Ligand-binding. apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374) GGCCATCATTCTGTGTGGAGG 0.557000 5 51 0 0 0.00116845 0 0 A2ML1 144568 broad.mit.edu 37 12 8982357 8982357 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:8982357C>T ENST00000299698.7 + 4 624 c.444C>T c.(442-444)ttC>ttT p.F148F A2ML1-AS1_ENST00000537288.1_RNA NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 0 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 ATAGCAACTTCGTTCCAGTGA 0.458000 8 91 0 0 0.000157383 0 0 SPEG 10290 broad.mit.edu 37 2 220354184 220354184 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:220354184C>T ENST00000312358.7 + 36 8576 c.8444C>T c.(8443-8445)cCg>cTg p.P2815L SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 2815 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CCCACACCCCCGTCAGTCACT 0.667000 5 37 0 0 8.12818e-05 0 0 SCN5A 6331 broad.mit.edu 37 3 38592248 38592248 + Missense_Mutation SNP T T C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:38592248T>C ENST00000413689.1 - 28 5808 c.5615A>G c.(5614-5616)aAg>aGg p.K1872R SCN5A_ENST00000414099.2_Missense_Mutation_p.K1854R|SCN5A_ENST00000455624.2_Missense_Mutation_p.K1839R|SCN5A_ENST00000451551.2_Missense_Mutation_p.K1818R|SCN5A_ENST00000333535.4_Missense_Mutation_p.K1872R|SCN5A_ENST00000450102.2_Missense_Mutation_p.K1818R|SCN5A_ENST00000449557.2_Missense_Mutation_p.K1818R|SCN5A_ENST00000443581.1_Missense_Mutation_p.K1871R|SCN5A_ENST00000425664.1_Missense_Mutation_p.K1854R|SCN5A_ENST00000423572.2_Missense_Mutation_p.K1871R NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1872 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) CATCTGGATCTTCAGGGCGTC 0.587000 8 157 0 0 0.000274275 0 0 PLXND1 23129 broad.mit.edu 37 3 129286547 129286547 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:129286547G>A ENST00000393239.1 - 21 4145 c.3967C>T c.(3967-3969)Cgc>Tgc p.R1323C PLXND1_ENST00000324093.4_Missense_Mutation_p.R1323C Q9Y4D7 PLXD1_HUMAN plexin D1 1323 axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 CTACCTTTGCGGATTTCCTCT 0.612000 7 28 0 0 0.000157383 0 0 TRPC4 7223 broad.mit.edu 37 13 38211475 38211475 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr13:38211475C>T ENST00000379705.3 - 11 3356 c.2499G>A c.(2497-2499)caG>caA p.Q833Q TRPC4_ENST00000379681.3_Silent_p.Q838Q|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000358477.2_Intron|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000379679.1_Silent_p.Q660Q|TRPC4_ENST00000338947.5_Silent_p.Q660Q Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 833 Binds to ITPR1, ITPR2 and ITPR3. axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TCACTTTTCTCTGCTTCTCCC 0.443000 5 32 0 0 0.000602214 0 0 TTC14 151613 broad.mit.edu 37 3 180322051 180322051 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:180322051C>T ENST00000412756.2 + 4 594 c.525C>T c.(523-525)aaC>aaT p.N175N TTC14_ENST00000296015.4_Silent_p.N175N|TTC14_ENST00000382584.4_Silent_p.N175N NM_001042601.2 NP_001036066.1 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 175 S1 motif. RNA binding endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) CTCACAGTAACCATGGGGATC 0.338000 12 68 0 0 0.000151284 0 0 ATP2B4 493 broad.mit.edu 37 1 203689718 203689718 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:203689718C>T ENST00000357681.5 + 16 3571 c.2448C>T c.(2446-2448)atC>atT p.I816I ATP2B4_ENST00000367219.3_Silent_p.I804I|ATP2B4_ENST00000341360.2_Silent_p.I816I|ATP2B4_ENST00000391954.2_Silent_p.I816I|ATP2B4_ENST00000367218.3_Silent_p.I816I NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 816 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) CTTCAGACATCATCCTAACAG 0.507000 10 42 0 0 0.00010058 0 0 SEMA6C 10500 broad.mit.edu 37 1 151108092 151108092 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:151108092C>T ENST00000341697.3 - 14 3099 c.1408G>A c.(1408-1410)Gag>Aag p.E470K Q9H3T2 SEM6C_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C 470 Sema. integral to membrane receptor activity p.E470Q(1) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 28 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GCATCAATCTCTTCCAGGAGG 0.602000 12 131 0 0 0.000219431 0 0 CDH10 1008 broad.mit.edu 37 5 24537681 24537681 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:24537681G>A ENST00000264463.4 - 3 841 c.334C>T c.(334-336)Cat>Tat p.H112Y NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 112 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.H112Y(1) NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) CTTGTGGCATGAATATCACCT 0.403000 HNSCC(23;0.051) 6 39 0 0 8.12818e-05 0 0 GPR50 9248 broad.mit.edu 37 X 150349133 150349133 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:150349133G>A ENST00000218316.3 + 2 1147 c.1078G>A c.(1078-1080)Gaa>Aaa p.E360K NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 360 Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) TGCTGTGGAGGAAACCCCGAT 0.632000 25 57 0 0 0.000878237 0 0 SORL1 6653 broad.mit.edu 37 11 121495921 121495921 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:121495921G>A ENST00000260197.7 + 46 6428 c.6299G>A c.(6298-6300)aGa>aAa p.R2100K SORL1_ENST00000525532.1_Missense_Mutation_p.R1044K|SORL1_ENST00000527934.1_Missense_Mutation_p.R715K|SORL1_ENST00000534286.1_Missense_Mutation_p.R1010K|SORL1_ENST00000532694.1_Missense_Mutation_p.R946K NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 2100 Fibronectin type-III 6. 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) GTCCAAGCAAGATGCCTTTTT 0.473000 6 126 0 0 8.12818e-05 0 0 STAP2 55620 broad.mit.edu 37 19 4333715 4333715 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:4333715G>A ENST00000600324.1 - 3 340 c.273C>T c.(271-273)ctC>ctT p.L91L STAP2_ENST00000594605.1_Silent_p.L91L NM_017720.2 NP_060190.2 Q9UGK3 STAP2_HUMAN signal transducing adaptor family member 2 91 PH. cytoplasm|nucleus protein binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) CCTGATCCCGGAGAATCAGGC 0.552000 6 46 0 0 0.00116845 0 0 PITPNM2 57605 broad.mit.edu 37 12 123482012 123482012 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:123482012G>A ENST00000280562.5 - 10 1537 c.1332C>T c.(1330-1332)tcC>tcT p.S444S PITPNM2_ENST00000392428.1_Silent_p.S165S|PITPNM2_ENST00000320201.4_Silent_p.S444S|PITPNM2_ENST00000542749.1_Silent_p.S444S Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 444 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) CGCCCTTCTTGGAGCTGGGGT 0.667000 13 113 0 0 0.000151284 0 0 LRP1B 53353 broad.mit.edu 37 2 141299440 141299440 + Missense_Mutation SNP T T C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:141299440T>C ENST00000389484.3 - 44 8266 c.7295A>G c.(7294-7296)aAc>aGc p.N2432S NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2432 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) TGTGTACTTGTTGGACCGCAG 0.428000 TSP Lung(27;0.18) 5 59 0 0 0.000602214 0 0 LAMA2 3908 broad.mit.edu 37 6 129835527 129835527 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:129835527C>T ENST00000421865.2 + 64 9047 c.8998C>T c.(8998-9000)Cat>Tat p.H3000Y NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 3000 Laminin G-like 5. 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) GTTGATGTTTCATGTGGACAA 0.423000 5 36 0 0 0.000602214 0 0 TARBP1 6894 broad.mit.edu 37 1 234596109 234596109 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:234596109G>A ENST00000040877.1 - 7 1432 c.1433C>T c.(1432-1434)aCa>aTa p.T478I NM_005646.3 NP_005637.3 Q13395 TARB1_HUMAN TAR (HIV-1) RNA binding protein 1 478 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) ATGCCTACTTGTCATCTTCCG 0.388000 6 52 0 0 8.12818e-05 0 0 ELMOD2 255520 broad.mit.edu 37 4 141456968 141456968 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:141456968C>T ENST00000323570.3 + 4 385 c.253C>T c.(253-255)Cct>Tct p.P85S NM_153702.3 NP_714913.1 Q8IZ81 ELMD2_HUMAN ELMO/CED-12 domain containing 2 85 phagocytosis|regulation of defense response to virus|response to virus cytoskeleton GTPase activator activity endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 7 all_hematologic(180;0.162) GAATATTAACCCTGAGAAGGA 0.333000 4 35 0 0 0.00024832 0 0 HTR2A 3356 broad.mit.edu 37 13 47466724 47466724 + Splice_Site SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr13:47466724C>T ENST00000378688.4 - 2 545 c.412_splice c.e2-1 p.G138_splice HTR2A_ENST00000542664.1_Splice_Site_p.G138_splice|HTR2A_ENST00000543956.1_Splice_Site_p.W54_splice P28223 5HT2A_HUMAN 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 138 ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GCCACCGGTACCCTATGAGGC 0.572000 4 45 0 0 0.00024832 0 0 MARCO 8685 broad.mit.edu 37 2 119726833 119726833 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:119726833C>T ENST00000327097.4 + 2 330 c.195C>T c.(193-195)gtC>gtT p.V65V MARCO_ENST00000541757.1_5'UTR NM_006770.3 NP_006761.1 Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 65 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 TGCTGGTGGTCCAAGGTAAAG 0.602000 10 47 0 0 0.000442599 0 0 ERBB4 2066 broad.mit.edu 37 2 212251634 212251634 + Missense_Mutation SNP C C T rs3748961 TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:212251634C>T ENST00000342788.4 - 27 3735 c.3425G>A c.(3424-3426)cGa>cAa p.R1142Q ERBB4_ENST00000402597.1_Missense_Mutation_p.R1132Q|ERBB4_ENST00000436443.1_Missense_Mutation_p.R1126Q NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 1142 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CAGCTCTCCTCGTGGGCTCCG 0.537000 TSP Lung(8;0.080) 10 74 0 0 0.00010058 0 0 YEATS2 55689 broad.mit.edu 37 3 183521850 183521850 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:183521850C>T ENST00000305135.5 + 27 3853 c.3658C>T c.(3658-3660)Ccc>Tcc p.P1220S NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 1220 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CCACCTGACTCCCCTCAAAAC 0.488000 24 75 0 0 0.00047179 0 0 GIMAP5 55340 broad.mit.edu 37 7 150439761 150439761 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:150439761G>A ENST00000358647.3 + 3 901 c.534G>A c.(532-534)cgG>cgA p.R178R GIMAP5_ENST00000479556.1_3'UTR NM_018384.4 NP_060854.2 GTPase, IMAP family member 5 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ACCTGGTGCGGGAGTGTGAGA 0.572000 10 129 0 0 0.000151284 0 0 LLGL2 3993 broad.mit.edu 37 17 73567141 73567141 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:73567141C>T ENST00000392550.3 + 17 2253 c.2136C>T c.(2134-2136)ttC>ttT p.F712F LLGL2_ENST00000577200.1_Silent_p.F712F|LLGL2_ENST00000167462.5_Silent_p.F712F NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) 712 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) TCACAGGCTTCGTCCGGACCC 0.652000 28 126 0 0 0.000279167 0 0 XKR4 114786 broad.mit.edu 37 8 56436647 56436647 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:56436647C>T ENST00000327381.5 + 3 1914 c.1814C>T c.(1813-1815)cCa>cTa p.P605L NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 605 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) AATAGGTACCCAGCATGGGAG 0.488000 7 73 0 0 8.12818e-05 0 0 ST18 9705 broad.mit.edu 37 8 53085075 53085075 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:53085075C>T ENST00000276480.7 - 10 1029 c.346G>A c.(346-348)Gaa>Aaa p.E116K NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 116 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TATCTGTCTTCCTTCCTACTG 0.343000 7 44 0 0 8.12818e-05 0 0 AKAP9 10142 broad.mit.edu 37 7 91715708 91715708 + Nonsense_Mutation SNP T T A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:91715708T>A ENST00000359028.2 + 37 9428 c.9203T>A c.(9202-9204)tTg>tAg p.L3068* AKAP9_ENST00000356239.3_Nonsense_Mutation_p.L3064*|AKAP9_ENST00000358100.2_Nonsense_Mutation_p.L3014* Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 3068 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) CTAAACTGTTTGGAACAGAGA 0.333000 T BRAF papillary thyroid 18 218 0 0 0.000958276 0 0 FRS3 10817 broad.mit.edu 37 6 41738529 41738529 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:41738529G>A ENST00000373018.3 - 7 1558 c.1307C>T c.(1306-1308)cCc>cTc p.P436L FRS3_ENST00000259748.2_Missense_Mutation_p.P436L NM_006653.3 NP_006644.1 O43559 FRS3_HUMAN fibroblast growth factor receptor substrate 3 436 fibroblast growth factor receptor signaling pathway plasma membrane fibroblast growth factor receptor binding|insulin receptor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GGGGCTCGAGGGGTTCTGGGG 0.652000 17 106 0 0 0.000958276 0 0 CACNA1C 775 broad.mit.edu 37 12 2764372 2764372 + Missense_Mutation SNP G G C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:2764372G>C ENST00000399655.1 + 34 4465 c.4200G>C c.(4198-4200)caG>caC p.Q1400H CACNA1C_ENST00000399597.1_Missense_Mutation_p.Q1400H|CACNA1C_ENST00000399591.1_Missense_Mutation_p.Q1389H|CACNA1C_ENST00000399638.1_Missense_Mutation_p.Q1428H|CACNA1C_ENST00000399634.1_Missense_Mutation_p.Q1400H|CACNA1C_ENST00000399606.1_Missense_Mutation_p.Q1420H|CACNA1C_ENST00000335762.5_Missense_Mutation_p.Q1425H|CACNA1C_ENST00000399595.1_Missense_Mutation_p.Q1389H|CACNA1C_ENST00000399637.1_Missense_Mutation_p.Q1400H|CACNA1C_ENST00000399617.1_Missense_Mutation_p.Q1400H|CACNA1C_ENST00000399603.1_Missense_Mutation_p.Q1400H|CACNA1C_ENST00000399629.1_Missense_Mutation_p.Q1417H|CACNA1C_ENST00000399601.1_Missense_Mutation_p.Q1400H|CACNA1C_ENST00000406454.3_Missense_Mutation_p.Q1400H|CACNA1C_ENST00000344100.3_Missense_Mutation_p.Q1422H|CACNA1C_ENST00000347598.4_Missense_Mutation_p.Q1448H|CACNA1C_ENST00000399641.1_Missense_Mutation_p.Q1400H|CACNA1C_ENST00000402845.3_Missense_Mutation_p.Q1400H|CACNA1C_ENST00000399621.1_Missense_Mutation_p.Q1400H|CACNA1C_ENST00000399644.1_Missense_Mutation_p.Q1400H|CACNA1C_ENST00000327702.7_Missense_Mutation_p.Q1400H|CACNA1C_ENST00000399649.1_Missense_Mutation_p.Q1387H 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 1448 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 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) ACAACTTTCAGACCTTCCCCC 0.522000 4 18 0 0 0.00024832 0 0 TTN 7273 broad.mit.edu 37 2 179454489 179454489 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:179454489C>T ENST00000589042.1 - 304 62187 c.61963G>A c.(61963-61965)Gaa>Aaa p.E20655K TTN_ENST00000359218.5_Missense_Mutation_p.E11715K|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E18087K|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E11782K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E11590K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E19014K|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19014 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) GTTTTTGTTTCGATGGTTGGC 0.393000 13 127 0 0 0.000219431 0 0 RP1 6101 broad.mit.edu 37 8 55540068 55540068 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:55540068C>T ENST00000220676.1 + 4 3774 c.3626C>T c.(3625-3627)tCt>tTt p.S1209F NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1209 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) ATAGATCTTTCTGCAAATTGT 0.433000 14 76 0 0 0.000219431 0 0 INO80 54617 broad.mit.edu 37 15 41340454 41340454 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:41340454G>A ENST00000361937.3 - 22 3021 c.2597C>T c.(2596-2598)cCa>cTa p.P866L INO80_ENST00000401393.3_Missense_Mutation_p.P866L Q9ULG1 INO80_HUMAN INO80 complex subunit 866 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 TGGTGCAAATGGAGAAAGAAC 0.383000 19 139 0 0 0.000295444 0 0 BLZF1 8548 broad.mit.edu 37 1 169346025 169346025 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:169346025C>T ENST00000367808.3 + 3 699 c.276C>T c.(274-276)atC>atT p.I92I BLZF1_ENST00000367807.3_Silent_p.I92I|BLZF1_ENST00000329281.2_Silent_p.I92I Q9H2G9 GO45_HUMAN basic leucine zipper nuclear factor 1 92 cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter Golgi lumen|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 14 all_hematologic(923;0.208) CTCATGATATCCCCAACAAAA 0.403000 4 40 0 0 0.00024832 0 0 HACE1 57531 broad.mit.edu 37 6 105232044 105232044 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:105232044G>A ENST00000262903.4 - 14 1759 c.1483C>T c.(1483-1485)Ccc>Tcc p.P495S HACE1_ENST00000369125.2_Missense_Mutation_p.P495S NM_020771.3 NP_065822.2 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 495 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) ATAATTTTGGGATTTCTAAAA 0.308000 5 56 0 0 0.000602214 0 0 DPP6 1804 broad.mit.edu 37 7 154561201 154561201 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:154561201G>A ENST00000404039.1 + 9 1353 c.766G>A c.(766-768)Gat>Aat p.D256N DPP6_ENST00000332007.3_Missense_Mutation_p.D258N|DPP6_ENST00000427557.1_Missense_Mutation_p.D213N|DPP6_ENST00000377770.3_Missense_Mutation_p.D320N NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 320 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) CGCCATCAATGATTCCCGTGT 0.547000 9 50 0 0 0.000673444 0 0 CR1 1378 broad.mit.edu 37 1 207680090 207680090 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:207680090G>A ENST00000367049.4 + 3 333 c.333G>A c.(331-333)gtG>gtA p.V111V CR1_ENST00000367053.1_Silent_p.V111V|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367052.1_Silent_p.V111V|CR1_ENST00000367051.1_Silent_p.V111V|CR1_ENST00000400960.2_Silent_p.V111V NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 111 Sushi 2. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CAGATCCTGTGAATGGCATGG 0.383000 6 88 0 0 0.00116845 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138714531 138714531 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:138714531G>A ENST00000389532.4 - 11 2040 c.1976C>T c.(1975-1977)cCc>cTc p.P659L CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.P381L|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.P670L NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 659 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) GATGCCCATGGGGAATTCTGA 0.597000 5 46 0 0 0.000602214 0 0 TTN 7273 broad.mit.edu 37 2 179612743 179612743 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:179612743G>A ENST00000360870.5 - 46 14606 c.14384C>T c.(14383-14385)cCa>cTa p.P4795L TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 904 Ig-like 28. 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) ATCCTGCTTTGGAAATGCTGC 0.468000 4 14 0 0 0.00024832 0 0 GUCA2A 2980 broad.mit.edu 37 1 42628607 42628607 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:42628607G>A ENST00000357001.2 - 3 323 c.318C>T c.(316-318)atC>atT p.I106I NM_033553.2 NP_291031.2 Q02747 GUC2A_HUMAN guanylate cyclase activator 2A (guanylin) 106 signal transduction extracellular region guanylate cyclase activator activity|hormone activity haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|pancreas(1)|skin(1) 5 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CGTAGGCACAGATTTCACATG 0.627000 13 49 0 0 0.000308642 0 0 FKBP11 51303 broad.mit.edu 37 12 49315984 49315984 + Splice_Site SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:49315984G>A ENST00000550765.1 - 6 787 c.388_splice c.e6-1 p.A130_splice AC073610.5_ENST00000537495.1_Splice_Site_p.N56_splice|CCDC65_ENST00000266984.5_Intron|FKBP11_ENST00000444214.2_Splice_Site_p.A28_splice|ARF3_ENST00000398092.4_Intron NM_016594.2 NP_057678.1 Q9NYL4 FKB11_HUMAN FK506 binding protein 11, 19 kDa 130 PPIase FKBP-type. protein folding integral to membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity kidney(1)|large_intestine(3)|lung(1) 5 CACTGCATCCGCTGGAGAGGC 0.532000 12 57 0 0 0.000219431 0 0 TRAV4 28689 broad.mit.edu 37 14 22205078 22205078 + RNA SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr14:22205078G>A ENST00000390426.2 + 0 209 TGCTACAAATGATTATATCAC 0.423000 8 64 0 0 0.000157383 0 0 RGS7 6000 broad.mit.edu 37 1 240975321 240975321 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:240975321C>T ENST00000366565.1 - 14 1360 c.979G>A c.(979-981)Gta>Ata p.V327I RGS7_ENST00000366563.1_Missense_Mutation_p.V327I|RGS7_ENST00000446183.2_Missense_Mutation_p.V243I|RGS7_ENST00000401882.1_Missense_Mutation_p.V274I|RGS7_ENST00000366562.4_Missense_Mutation_p.V327I|RGS7_ENST00000348120.2_Missense_Mutation_p.V274I|RGS7_ENST00000407727.1_Missense_Mutation_p.V327I|RGS7_ENST00000331110.7_Missense_Mutation_p.V301I|RGS7_ENST00000366564.1_Missense_Mutation_p.V327I NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 327 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) CATCGTTTTACCCTCTGCTGG 0.388000 6 111 0 0 0.000157383 0 0 CFHR5 81494 broad.mit.edu 37 1 196952150 196952150 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:196952150C>T ENST00000367414.5 + 2 322 c.266C>T c.(265-267)tCc>tTc p.S89F CFHR5_ENST00000256785.4_Missense_Mutation_p.S65F NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 65 Sushi 2. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 CCTTCAAAATCCTTTTGGACT 0.388000 8 64 0 0 0.000274275 0 0 ZBTB5 9925 broad.mit.edu 37 9 37440577 37440577 + Nonsense_Mutation SNP T T A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:37440577T>A ENST00000307750.4 - 2 2160 c.1972A>T c.(1972-1974)Aag>Tag p.K658* NM_014872.2 NP_055687.1 O15062 ZBTB5_HUMAN zinc finger and BTB domain containing 5 658 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1) 8 GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226) TTTGAGTGCTTATACAGGTGG 0.507000 8 63 0 0 0.000274275 0 0 LGI1 9211 broad.mit.edu 37 10 95553074 95553074 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:95553074G>A ENST00000371418.4 + 7 1065 c.805G>A c.(805-807)Gaa>Aaa p.E269K LGI1_ENST00000542308.1_Missense_Mutation_p.E221K|LGI1_ENST00000371413.3_Missense_Mutation_p.E269K NM_005097.2 NP_005088.1 O95970 LGI1_HUMAN leucine-rich, glioma inactivated 1 269 axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1) 29 Colorectal(252;0.124) GGACCATGTGGAAAAGACCTT 0.373000 15 95 0 0 0.000175454 0 0 SOX2 6657 broad.mit.edu 37 3 181431045 181431045 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:181431045G>A ENST00000325404.1 + 1 1324 c.897G>A c.(895-897)caG>caA p.Q299Q SOX2_ENST00000431565.2_Silent_p.Q299Q NM_003106.3 NP_003097.1 P48431 SOX2_HUMAN SRY (sex determining region Y)-box 2 299 cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance cytosol|transcription factor complex miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1) 10 all_cancers(143;1.22e-16)|Ovarian(172;0.0283) all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08) AGCACTACCAGAGCGGCCCGG 0.642000 A """NSCLC, oesophageal squamous carcinoma""" MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME 4 13 0 0 0.00024832 0 0 AGTR2 186 broad.mit.edu 37 X 115304508 115304508 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:115304508C>T ENST00000371906.4 + 3 1165 c.975C>T c.(973-975)ttC>ttT p.F325F NM_000686.4 NP_000677.2 P50052 AGTR2_HUMAN angiotensin II receptor, type 2 325 behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1) 24 GAAACCGGTTCCAACAGAAGC 0.453000 13 34 0 0 0.00010058 0 0 GRID2 2895 broad.mit.edu 37 4 94137913 94137913 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:94137913G>A ENST00000282020.4 + 6 1072 c.814G>A c.(814-816)Gaa>Aaa p.E272K GRID2_ENST00000510992.1_Missense_Mutation_p.E177K|GRID2_ENST00000505687.1_3'UTR NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 272 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) GGACGTACAGGAACTTGTAAG 0.388000 5 69 0 0 0.00116845 0 0 C10orf54 64115 broad.mit.edu 37 10 73511449 73511449 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:73511449C>T ENST00000394957.3 - 6 932 c.874G>A c.(874-876)Gga>Aga p.G292R CDH23_ENST00000224721.6_Intron NM_022153.1 NP_071436.1 Q9H7M9 GI24_HUMAN chromosome 10 open reading frame 54 292 integral to membrane receptor activity p.G292R(1) breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 9 AAGACGTCTCCGGGGCCTGGA 0.622000 12 47 0 0 0.000219431 0 0 ZBTB4 57659 broad.mit.edu 37 17 7366608 7366608 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:7366608C>T ENST00000311403.4 - 4 2032 c.1693G>A c.(1693-1695)Gga>Aga p.G565R ZBTB4_ENST00000380599.4_Missense_Mutation_p.G565R NM_020899.3 NP_065950.2 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6) 36 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) AGAGTCCTTCCAGCCCGTGGA 0.701000 6 26 0 0 0.00116845 0 0 TSHR 7253 broad.mit.edu 37 14 81554364 81554364 + Silent SNP A A G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr14:81554364A>G ENST00000541158.2 + 5 706 c.384A>G c.(382-384)ctA>ctG p.L128L TSHR_ENST00000342443.6_Silent_p.L128L|TSHR_ENST00000554263.1_Silent_p.L128L|TSHR_ENST00000554435.1_Silent_p.L128L|TSHR_ENST00000298171.2_Silent_p.L128L P16473 TSHR_HUMAN thyroid stimulating hormone receptor 128 cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) TCCCCCTCCTAAAGTTCCTGT 0.438000 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 10 35 0 0 0.000442599 0 0 MCL1 4170 broad.mit.edu 37 1 150551372 150551372 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:150551372G>A ENST00000369026.2 - 1 694 c.635C>T c.(634-636)aCc>aTc p.T212I MCL1_ENST00000307940.3_Missense_Mutation_p.T212I NM_001197320.1|NM_021960.4 NP_001184249.1|NP_068779.1 Q07820 MCL1_HUMAN myeloid cell leukemia sequence 1 (BCL2-related) 212 anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nucleoplasm BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity endometrium(2)|large_intestine(1)|lung(4)|prostate(1) 8 all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CCGTCGTAAGGTCTCCAGCGC 0.602000 19 82 0 0 0.000175454 0 0 SPNS1 83985 broad.mit.edu 37 16 28993278 28993278 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:28993278C>T ENST00000311008.11 + 7 1243 c.866C>T c.(865-867)tCc>tTc p.S289F SPNS1_ENST00000561868.1_Intron|SPNS1_ENST00000334536.8_Intron|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000323081.8_Missense_Mutation_p.S216F|SPNS1_ENST00000352260.7_Intron|SPNS1_ENST00000565975.1_Missense_Mutation_p.S334F NM_032038.2 NP_114427.1 Q9H2V7 SPNS1_HUMAN spinster homolog 1 (Drosophila) 289 lipid transport|transmembrane transport integral to membrane|mitochondrial inner membrane protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1) 21 GTCACGGGCTCCCTGGCTCTG 0.622000 OREG0023712 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 56 0 0 0.000308642 0 0 MORC1 27136 broad.mit.edu 37 3 108778661 108778661 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:108778661C>T ENST00000232603.5 - 12 1105 c.1023G>A c.(1021-1023)gaG>gaA p.E341E MORC1_ENST00000483760.1_Silent_p.E341E NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 341 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 ACCTTTGTTTCTCTTTAAGAT 0.373000 9 36 0 0 0.000673444 0 0 CACNA1S 779 broad.mit.edu 37 1 201009757 201009757 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:201009757G>A ENST00000362061.3 - 42 5445 c.5219C>T c.(5218-5220)cCc>cTc p.P1740L RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Missense_Mutation_p.P1721L NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1740 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) TACCTGGCAGGGGGCAGGAGG 0.612000 22 62 0 0 0.000375601 0 0 COL19A1 1310 broad.mit.edu 37 6 70897825 70897825 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:70897825G>A ENST00000322773.4 + 47 3005 c.2903G>A c.(2902-2904)gGa>gAa p.G968E COL19A1_ENST00000393344.1_Missense_Mutation_p.G590E NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 968 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 GGTGAACGGGGAAAACCAGGC 0.527000 5 81 0 0 0.00116845 0 0 HYDIN 54768 broad.mit.edu 37 16 71209610 71209610 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:71209610G>A ENST00000393567.2 - 5 566 c.416C>T c.(415-417)tCg>tTg p.S139L HYDIN_ENST00000321489.5_Missense_Mutation_p.S139L|HYDIN_ENST00000448691.1_Missense_Mutation_p.S139L|HYDIN_ENST00000541601.1_Missense_Mutation_p.S156L|HYDIN_ENST00000393550.2_Missense_Mutation_p.S139L|HYDIN_ENST00000538248.1_Missense_Mutation_p.S166L|HYDIN_ENST00000448089.2_Missense_Mutation_p.S139L|HYDIN_ENST00000288168.10_Missense_Mutation_p.S156L NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 139 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) AAAGTAAGGCGAACTTTCTTC 0.433000 6 101 0 0 0.000274275 0 0 B4GALT3 8703 broad.mit.edu 37 1 161141693 161141693 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:161141693G>A ENST00000319769.5 - 8 1317 c.1095C>T c.(1093-1095)ttC>ttT p.F365F PPOX_ENST00000535223.1_Intron|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000495483.1_Intron|B4GALT3_ENST00000367998.1_Silent_p.F365F|PPOX_ENST00000432542.2_Intron NM_001199873.1|NM_003779.3 NP_001186802.1|NP_003770.1 O60512 B4GT3_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 365 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity cervix(1)|endometrium(5)|large_intestine(6)|lung(6) 18 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) N-Acetyl-D-glucosamine(DB00141) TCTCTTGACGGAAGGCTTGGG 0.612000 7 91 0 0 8.12818e-05 0 0 TENM3 55714 broad.mit.edu 37 4 183603033 183603033 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:183603033C>T ENST00000511685.1 + 11 2024 c.1901C>T c.(1900-1902)cCa>cTa p.P634L TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.P634L teneurin transmembrane protein 3 CACTGCAGTCCAGGATGGGGA 0.473000 4 31 0 0 0.00024832 0 0 HHIPL2 79802 broad.mit.edu 37 1 222716972 222716972 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:222716972G>A ENST00000343410.6 - 2 939 c.881C>T c.(880-882)tCg>tTg p.S294L NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 294 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) GTCCAGGCACGAATAATAAAT 0.468000 120 754 0 0 0.000781405 0 0 C6 729 broad.mit.edu 37 5 41158779 41158779 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:41158779G>A ENST00000263413.3 - 13 2229 c.1965C>T c.(1963-1965)atC>atT p.I655I C6_ENST00000337836.5_Silent_p.I655I NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 655 C5b-binding domain.|Sushi 1. 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) TGCTGACCCGGATAAATCCAT 0.388000 5 30 0 0 0.00116845 0 0 RGS3 5998 broad.mit.edu 37 9 116356350 116356350 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:116356350C>T ENST00000462403.1 + 1 585 c.151C>T c.(151-153)Cct>Tct p.P51S RGS3_ENST00000374134.3_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000374140.2_Intron|RGS3_ENST00000394646.3_Intron NM_144489.2 NP_652760.2 P49796 RGS3_HUMAN regulator of G-protein signaling 3 0 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 CCTCCTGGTCCCTCCCATTTC 0.622000 16 143 0 0 0.000566183 0 0 ITIH5 80760 broad.mit.edu 37 10 7679332 7679332 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:7679332C>T ENST00000256861.6 - 5 589 c.511G>A c.(511-513)Gag>Aag p.E171K ITIH5_ENST00000397146.2_Missense_Mutation_p.E171K|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.E171K|ITIH5_ENST00000446830.2_5'UTR NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 171 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 ATGCTGTGCTCGTACTTGCCC 0.592000 7 47 0 0 0.000157383 0 0 POTEF 728378 broad.mit.edu 37 2 130831874 130831874 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:130831874G>A ENST00000357462.5 - 15 3264 c.3171C>T c.(3169-3171)atC>atT p.I1057I POTEF_ENST00000409914.2_Silent_p.I1057I A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 1057 Actin-like. cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 CCTGCTTGCTGATCCACATCT 0.532000 11 94 0 0 0.000219431 0 0 OR2M7 391196 broad.mit.edu 37 1 248487187 248487187 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:248487187C>T ENST00000317965.2 - 1 712 c.684G>A c.(682-684)atG>atA p.M228I NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTCCAGATCCCATGTGAATGA 0.438000 17 180 0 0 0.000422831 0 0 APBB1IP 54518 broad.mit.edu 37 10 26825070 26825070 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:26825070G>A ENST00000376236.4 + 10 1423 c.968G>A c.(967-969)gGa>gAa p.G323E NM_019043.3 NP_061916.3 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 323 PH. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium p.G323E(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 AAAGAAGATGGAAAGAAATCC 0.368000 34 178 0 0 0.000692331 0 0 CEP192 55125 broad.mit.edu 37 18 13056565 13056565 + Missense_Mutation SNP T T A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr18:13056565T>A ENST00000506447.1 + 19 4056 c.3976T>A c.(3976-3978)Tct>Act p.S1326T CEP192_ENST00000325971.8_Missense_Mutation_p.S730T|CEP192_ENST00000430049.2_Missense_Mutation_p.S851T NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 921 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GATGGGTACCTCTTCCCTCTG 0.468000 18 95 0 0 0.000566183 0 0 NPIPB15 440348 broad.mit.edu 37 16 74425677 74425677 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:74425677C>T ENST00000429990.1 + 7 1127 c.1031C>T c.(1030-1032)cCc>cTc p.P344L nuclear pore complex interacting protein family, member B15 AAGACTCCTCCcttagctact 0.547000 9 80 0 0 0.000673444 0 0 LILRA1 11024 broad.mit.edu 37 19 55107271 55107271 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:55107271C>T ENST00000251372.3 + 6 1011 c.829C>T c.(829-831)Ctc>Ttc p.L277F LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron NM_006863.1 NP_006854.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 277 Ig-like C2-type 3. 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) CCAGGCTGGGCTCTCCCAGGC 0.612000 9 56 0 0 0.000274275 0 0 PLCB2 5330 broad.mit.edu 37 15 40581030 40581030 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:40581030G>A ENST00000260402.3 - 32 3693 c.3444C>T c.(3442-3444)acC>acT p.T1148T PLCB2_ENST00000557821.1_Silent_p.T1144T|PLCB2_ENST00000456256.2_Silent_p.T1133T NM_004573.2 NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 1148 activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) AGGGAAAGCAGGTCCTGAGGC 0.627000 7 67 0 0 0.000442599 0 0 C12orf54 121273 broad.mit.edu 37 12 48884616 48884616 + Nonsense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:48884616C>T ENST00000314014.2 + 6 321 c.190C>T c.(190-192)Cga>Tga p.R64* C12orf54_ENST00000548364.1_Nonsense_Mutation_p.R64*|RP11-722P11.4_ENST00000551847.1_RNA NM_152319.3 NP_689532.1 Q6X4T0 CL054_HUMAN chromosome 12 open reading frame 54 64 endometrium(1)|large_intestine(4) 5 TGCTCGGATTCGAGGTAAAAC 0.433000 8 110 0 0 0.000442599 0 0 OR8B3 390271 broad.mit.edu 37 11 124266939 124266939 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:124266939G>A ENST00000354597.3 - 1 325 c.309C>T c.(307-309)ttC>ttT p.F103F NM_001005467.1 NP_001005467.1 Q8NGG8 OR8B3_HUMAN olfactory receptor, family 8, subfamily B, member 3 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 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) AAAAGAGAAAGAAAAACAGCT 0.373000 5 23 0 0 8.12818e-05 0 0 MYOM3 127294 broad.mit.edu 37 1 24424448 24424448 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:24424448C>T ENST00000330966.7 - 7 875 c.713G>A c.(712-714)gGc>gAc p.G238D MYOM3_ENST00000329601.7_Missense_Mutation_p.G237D|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Missense_Mutation_p.G237D Q5VTT5 MYOM3_HUMAN myomesin 3 237 Ig-like C2-type 1. 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) GGAGGCCTGGCCGTGGGCGTT 0.592000 47 212 0 0 0.000781405 0 0 CYP2C19 1557 broad.mit.edu 37 10 96612490 96612490 + Splice_Site SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:96612490G>A ENST00000371321.3 + 9 1374 c.1291_splice c.e9-1 p.G431_splice CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 431 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) TTATTTTCAGGAAAACGGATT 0.423000 17 51 0 0 0.000175454 0 0 MECOM 2122 broad.mit.edu 37 3 168810803 168810803 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:168810803C>T ENST00000464456.1 - 12 3716 c.2516G>A c.(2515-2517)cGa>cAa p.R839Q MECOM_ENST00000392736.3_Missense_Mutation_p.R848Q|MECOM_ENST00000472280.1_Missense_Mutation_p.R849Q|MECOM_ENST00000494292.1_Missense_Mutation_p.R1027Q|MECOM_ENST00000468789.1_Missense_Mutation_p.R848Q|MECOM_ENST00000433243.2_Missense_Mutation_p.R849Q|MECOM_ENST00000460814.1_Missense_Mutation_p.R839Q|MECOM_ENST00000264674.3_Missense_Mutation_p.R913Q NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity p.R848L(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 AATGAAATTTCGAATTTCTGT 0.443000 13 56 0 0 0.00010058 0 0 PTPRK 5796 broad.mit.edu 37 6 128294288 128294288 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:128294288C>T ENST00000368227.3 - 30 4565 c.4199G>A c.(4198-4200)cGa>cAa p.R1400Q PTPRK_ENST00000368226.4_Missense_Mutation_p.R1383Q|PTPRK_ENST00000368213.5_Missense_Mutation_p.R1389Q|PTPRK_ENST00000368207.3_Missense_Mutation_p.R1415Q|PTPRK_ENST00000532331.1_Missense_Mutation_p.R1405Q|PTPRK_ENST00000368215.3_Missense_Mutation_p.R1382Q|PTPRK_ENST00000368210.3_Missense_Mutation_p.R1401Q Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 1382 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) CATGCCACTTCGCCCGCCACC 0.433000 21 80 0 0 0.000295444 0 0 RP1 6101 broad.mit.edu 37 8 55540361 55540361 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:55540361G>A ENST00000220676.1 + 4 4067 c.3919G>A c.(3919-3921)Gat>Aat p.D1307N NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1307 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) TTCACTTACTGATACTGTGTT 0.428000 19 102 0 0 0.000175454 0 0 PI4KA 5297 broad.mit.edu 37 22 21096604 21096604 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr22:21096604G>A ENST00000255882.6 - 32 3739 c.3653C>T c.(3652-3654)cCc>cTc p.P1218L PI4KA_ENST00000572273.1_Missense_Mutation_p.P1160L NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 1160 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) CATCCGGAGGGGACCCCAGCA 0.587000 OREG0026324 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 155 0 0 0.000978159 0 0 MS4A2 2206 broad.mit.edu 37 11 59863043 59863043 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:59863043C>T ENST00000278888.3 + 7 751 c.649C>T c.(649-651)Cgt>Tgt p.R217C NM_000139.4 NP_000130.1 Q01362 FCERB_HUMAN membrane-spanning 4-domains, subfamily A, member 2 217 cell proliferation|humoral immune response integral to plasma membrane calcium channel activity endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2) 17 all_epithelial(135;0.245) Omalizumab(DB00043) TCCAGAGGATCGTGTTTATGA 0.388000 10 40 0 0 0.000673444 0 0 PCED1B 91523 broad.mit.edu 37 12 47629785 47629785 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:47629785C>T ENST00000546455.1 + 4 1670 c.939C>T c.(937-939)ctC>ctT p.L313L PCED1B_ENST00000432328.1_Silent_p.L313L PC-esterase domain containing 1B tgccgctgctcccgctcctgt 0.627000 10 77 0 0 0.000442599 0 0 ADAM7 8756 broad.mit.edu 37 8 24349489 24349489 + Missense_Mutation SNP C C T rs149854879 by1000genomes TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:24349489C>T ENST00000175238.6 + 14 1513 c.1430C>T c.(1429-1431)tCg>tTg p.S477L ADAM7_ENST00000380789.1_Missense_Mutation_p.S477L|ADAM7_ENST00000520720.1_Missense_Mutation_p.S249L|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 477 Disintegrin. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) ACTGGCCACTCGCCTGCCTGT 0.463000 11 76 0 0 0.000978159 0 0 STK36 27148 broad.mit.edu 37 2 219563458 219563458 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:219563458C>T ENST00000295709.3 + 26 3470 c.3191C>T c.(3190-3192)tCg>tTg p.S1064L STK36_ENST00000392106.2_Missense_Mutation_p.S1043L|STK36_ENST00000392105.3_Missense_Mutation_p.S1043L|STK36_ENST00000440309.1_Missense_Mutation_p.S1064L NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 1064 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) ACCATCGTCTCGTTTCTCTCA 0.582000 17 173 0 0 0.000175454 0 0 CCDC105 126402 broad.mit.edu 37 19 15124559 15124559 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:15124559G>A ENST00000292574.3 + 2 728 c.646G>A c.(646-648)Gat>Aat p.D216N NM_173482.2 NP_775753.2 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 216 microtubule cytoskeleton organization microtubule NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2) 23 AATGGAGAGAGATATGGAAAA 0.502000 4 21 0 0 0.00116845 0 0 CPA5 93979 broad.mit.edu 37 7 130002292 130002292 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:130002292G>A ENST00000485477.1 + 7 1677 c.548G>A c.(547-549)gGt>gAt p.G183D CPA5_ENST00000355388.3_Missense_Mutation_p.G183D|CPA5_ENST00000474905.1_Missense_Mutation_p.G183D|CPA5_ENST00000466363.2_Missense_Mutation_p.G183D|CPA5_ENST00000461828.1_Missense_Mutation_p.G183D|CPA5_ENST00000431780.2_Missense_Mutation_p.G183D|CPA5_ENST00000393213.3_Missense_Mutation_p.G183D Q8WXQ8 CBPA5_HUMAN carboxypeptidase A5 183 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2) 23 Melanoma(18;0.0435) AGCACTGGAGGTTCTCGGCAC 0.557000 6 46 0 0 0.000157383 0 0 EFCAB6 64800 broad.mit.edu 37 22 44004441 44004441 + Nonsense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr22:44004441G>A ENST00000262726.7 - 22 2855 c.2602C>T c.(2602-2604)Cga>Tga p.R868* EFCAB6_ENST00000396231.2_Nonsense_Mutation_p.R716* NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 868 EF-hand 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding p.R868*(1) 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) TCCCGGCGTCGAAGAATGCCA 0.438000 8 51 0 0 0.000274275 0 0 HMCN1 83872 broad.mit.edu 37 1 185972948 185972948 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:185972948C>T ENST00000271588.4 + 29 4676 c.4447C>T c.(4447-4449)Cct>Tct p.P1483S HMCN1_ENST00000367492.2_Missense_Mutation_p.P1483S NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 1483 Ig-like C2-type 12. 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 CACTCCCTTTCCTGATATTCA 0.418000 7 58 0 0 0.000442599 0 0 SORL1 6653 broad.mit.edu 37 11 121448073 121448073 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:121448073G>A ENST00000260197.7 + 25 3673 c.3544G>A c.(3544-3546)Gac>Aac p.D1182N SORL1_ENST00000525532.1_Missense_Mutation_p.D126N|SORL1_ENST00000534286.1_Missense_Mutation_p.D92N|SORL1_ENST00000532694.1_Missense_Mutation_p.D28N NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 1182 LDL-receptor class A 3. 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) CGGGGACAACGACTGCAGGGA 0.532000 10 121 0 0 0.000442599 0 0 ANGPTL1 9068 broad.mit.edu 37 1 178822871 178822871 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:178822871C>T ENST00000234816.2 - 4 1322 c.875G>A c.(874-876)gGg>gAg p.G292E RALGPS2_ENST00000324778.4_Intron|RALGPS2_ENST00000367635.3_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.G292E|RALGPS2_ENST00000367634.2_Intron NM_004673.3 NP_004664.1 O95841 ANGL1_HUMAN angiopoietin-like 1 292 Fibrinogen C-terminal. extracellular space receptor binding p.G292E(1) breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 14 CATATAAATCCCACTGACCGA 0.373000 5 89 0 0 0.000602214 0 0 OR51A7 119687 broad.mit.edu 37 11 4929511 4929511 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:4929511G>A ENST00000359350.4 + 1 912 c.912G>A c.(910-912)ggG>ggA p.G304G MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004749.1 NP_001004749.1 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, member 7 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) AGATCTTGGGGAAGTTGCTTA 0.393000 6 64 0 0 0.000157383 0 0 ACOT12 134526 broad.mit.edu 37 5 80631636 80631636 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:80631636G>A ENST00000307624.3 - 12 1241 c.1213C>T c.(1213-1215)Cgt>Tgt p.R405C ACOT12_ENST00000508234.1_5'UTR NM_130767.2 NP_570123.1 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 405 START. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2) 23 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) GACAAGAGACGATAAGCCAAA 0.348000 12 81 0 0 0.000308642 0 0 WDR11 55717 broad.mit.edu 37 10 122612140 122612140 + Missense_Mutation SNP T T C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:122612140T>C ENST00000263461.6 + 2 437 c.191T>C c.(190-192)gTt>gCt p.V64A NM_018117.11 NP_060587.8 Q9BZH6 WDR11_HUMAN WD repeat domain 11 64 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5) 38 AAAGCTGATGTTGTAAAGGTA 0.353000 9 33 0 0 0.000442599 0 0 LGR6 59352 broad.mit.edu 37 1 202287252 202287252 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:202287252C>T ENST00000367278.3 + 18 1910 c.1821C>T c.(1819-1821)gcC>gcT p.A607A LGR6_ENST00000255432.7_Silent_p.A555A|LGR6_ENST00000439764.2_Silent_p.A468A NM_001017403.1 NP_001017403.1 Q9HBX8 LGR6_HUMAN leucine-rich repeat containing G protein-coupled receptor 6 607 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 TTGCAGGCGCCAACACCTTGA 0.617000 5 64 0 0 0.000602214 0 0 SALL3 27164 broad.mit.edu 37 18 76755016 76755016 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr18:76755016C>T ENST00000537592.2 + 2 3025 c.3025C>T c.(3025-3027)Ctc>Ttc p.L1009F SALL3_ENST00000536229.3_Intron|SALL3_ENST00000575389.2_Intron NM_171999.3 NP_741996.2 Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 1009 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) CGTCTGCGCGCTCTGCAGGCG 0.517000 13 73 0 0 0.00010058 0 0 DEFB116 245930 broad.mit.edu 37 20 29896384 29896384 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:29896384G>A ENST00000400549.1 - 1 4 c.5C>T c.(4-6)tCa>tTa p.S2L NM_001037731.1 NP_001032820.1 Q30KQ4 DB116_HUMAN defensin, beta 116 2 defense response to bacterium extracellular region kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 12 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) CTTCATGACTGACATGTTCCA 0.483000 7 71 0 0 0.000157383 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77317856 77317856 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:77317856G>A ENST00000282849.5 - 23 4081 c.3663C>T c.(3661-3663)atC>atT p.I1221I RP11-538I12.3_ENST00000561672.1_RNA NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 1221 PLAC. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 ACCAAGATCAGATCTTCCTTG 0.512000 7 55 0 0 8.12818e-05 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110476955 110476955 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:110476955C>T ENST00000378402.5 + 49 7998 c.7894C>T c.(7894-7896)Ccc>Tcc p.P2632S NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2632 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) GGAATATTTCCCCATGCAAAC 0.398000 HNSCC(38;0.096) 13 133 0 0 0.000308642 0 0 MXRA5 25878 broad.mit.edu 37 X 3242165 3242165 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:3242165G>A ENST00000217939.6 - 5 1715 c.1561C>T c.(1561-1563)Ctg>Ttg p.L521L NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 521 Ig-like C2-type 1. 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) GGCGCTTTCAGGATGGAGCCA 0.537000 21 33 0 0 0.000175454 0 0 PER2 8864 broad.mit.edu 37 2 239165600 239165600 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:239165600G>A ENST00000254657.3 - 17 2307 c.2028C>T c.(2026-2028)atC>atT p.I676I PER2_ENST00000254658.3_3'UTR NM_022817.2 NP_073728.1 O15055 PER2_HUMAN period circadian clock 2 676 CSNK1E binding domain (By similarity). circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) CCACATGGACGATGGTGCTGC 0.557000 OREG0015336 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 113 0 0 0.00074312 0 0 TENM3 55714 broad.mit.edu 37 4 183609456 183609456 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:183609456G>A ENST00000511685.1 + 12 2296 c.2173G>A c.(2173-2175)Ggc>Agc p.G725S TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.G725S teneurin transmembrane protein 3 CTGCAAGGATGGCAAGTGTGA 0.612000 6 44 0 0 0.00116845 0 0 CD1B 910 broad.mit.edu 37 1 158300829 158300829 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:158300829G>A ENST00000368168.3 - 2 192 c.85C>T c.(85-87)Cat>Tat p.H29Y NM_001764.2 NP_001755.1 P29016 CD1B_HUMAN CD1b molecule 29 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) TGGATAACATGAAAGGAGGTC 0.473000 33 277 0 0 0.000953801 0 0 MUC21 394263 broad.mit.edu 37 6 30955398 30955398 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:30955398C>T ENST00000376296.3 + 2 1687 c.1446C>T c.(1444-1446)ctC>ctT p.L482L MUC21_ENST00000486149.2_Silent_p.L28L NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 482 integral to membrane|plasma membrane NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 AAATCTTCCTCATCACCCTGG 0.562000 7 34 0 0 8.12818e-05 0 0 CDC23 8697 broad.mit.edu 37 5 137534194 137534194 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:137534194G>A ENST00000394886.2 - 8 881 c.851C>T c.(850-852)tCc>tTc p.S284F NM_004661.3 NP_004652.2 Q9UJX2 CDC23_HUMAN cell division cycle 23 284 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis anaphase-promoting complex|cytosol|nucleoplasm binding|ubiquitin-protein ligase activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) ATTAAAAATGGAGAGGGCTTT 0.408000 6 64 0 0 0.00116845 0 0 IGFL2 147920 broad.mit.edu 37 19 46663975 46663975 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:46663975C>T ENST00000434646.2 + 4 502 c.211C>T c.(211-213)Ctg>Ttg p.L71L IGFL2_ENST00000377693.4_Silent_p.L60L|AC007193.6_ENST00000597989.1_lincRNA|IGFL2_ENST00000600243.1_3'UTR NM_001002915.2 NP_001002915.2 Q6UWQ7 IGFL2_HUMAN IGF-like family member 2 60 extracellular region protein binding cervix(1)|lung(5) 6 Ovarian(192;0.0908)|all_neural(266;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247) CATCGTGTCCCTGAGCGAGAC 0.567000 30 263 0 0 0.000491102 0 0 ZNF184 7738 broad.mit.edu 37 6 27420976 27420976 + Missense_Mutation SNP A A G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:27420976A>G ENST00000211936.6 - 6 646 c.362T>C c.(361-363)cTa>cCa p.L121P ZNF184_ENST00000377419.1_Missense_Mutation_p.L121P NM_007149.2 NP_009080.2 Q99676 ZN184_HUMAN zinc finger protein 184 121 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 CTCTGGAGATAGCTCTTCTTC 0.403000 5 93 0 0 0.000602214 0 0 CIDEA 1149 broad.mit.edu 37 18 12264320 12264320 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr18:12264320C>T ENST00000320477.9 + 3 263 c.198C>T c.(196-198)ctC>ctT p.L66L CIDEA_ENST00000521296.1_3'UTR NM_001279.3 NP_001270.1 O60543 CIDEA_HUMAN cell death-inducing DFFA-like effector a 66 CIDE-N. 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 TGGATGCCCTCGTCATCGCTA 0.488000 12 51 0 0 0.000219431 0 0 GPR141 353345 broad.mit.edu 37 7 37780794 37780794 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:37780794G>A ENST00000447769.1 + 4 1088 c.799G>A c.(799-801)Gaa>Aaa p.E267K GPR141_ENST00000334425.1_Missense_Mutation_p.E267K|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron Q7Z602 GP141_HUMAN G protein-coupled receptor 141 267 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ATTTTATAACGAAATCTTCTT 0.383000 11 73 0 0 0.00010058 0 0 CSHL1 1444 broad.mit.edu 37 17 61987861 61987861 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:61987861G>A ENST00000392824.4 - 2 495 c.434C>T c.(433-435)tCc>tTc p.S145F CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000346606.6_5'UTR|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000450719.3_5'UTR|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000309894.5_Silent_p.F75F|CSHL1_ENST00000558099.1_5'UTR Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 0 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 AGTCATGCAGGAATGAATACT 0.517000 21 144 0 0 0.000375601 0 0 DIP2B 57609 broad.mit.edu 37 12 51079696 51079696 + Silent SNP A A G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:51079696A>G ENST00000301180.5 + 11 1432 c.1398A>G c.(1396-1398)aaA>aaG p.K466K NM_173602.2 NP_775873.2 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B (Drosophila) 466 nucleus catalytic activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 TTTGTCTAAAAGGACTGCCAA 0.378000 8 54 0 0 0.000274275 0 0 ZNF570 148268 broad.mit.edu 37 19 37975219 37975219 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:37975219C>T ENST00000330173.1 + 5 1224 c.695C>T c.(694-696)tCc>tTc p.S232F ZNF570_ENST00000388801.3_Missense_Mutation_p.S29F|ZNF570_ENST00000586475.1_Missense_Mutation_p.S288F NM_144694.1 NP_653295.1 Q96NI8 ZN570_HUMAN zinc finger protein 570 232 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CAGAGTTCATCCCTTACTCTT 0.358000 29 199 0 0 0.000227799 0 0 BRINP3 339479 broad.mit.edu 37 1 190234128 190234128 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:190234128C>T ENST00000367462.3 - 4 716 c.485G>A c.(484-486)gGa>gAa p.G162E RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000534846.1_Missense_Mutation_p.G60E|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 162 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GGAATCACTTCCTTCAGCTCG 0.428000 11 63 0 0 0.000151284 0 0 NCOA6 23054 broad.mit.edu 37 20 33330467 33330467 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:33330467G>A ENST00000374796.2 - 12 6163 c.3593C>T c.(3592-3594)cCa>cTa p.P1198L NCOA6_ENST00000359003.2_Missense_Mutation_p.P1198L Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1198 NCOA1-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 AGCCACATTTGGGAAGTGGTG 0.587000 17 142 0 0 0.000566183 0 0 OR2G2 81470 broad.mit.edu 37 1 247751905 247751905 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:247751905C>T ENST00000320065.1 + 1 244 c.244C>T c.(244-246)Ccc>Tcc p.P82S 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 82 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) CAGTGTTATTCCCCAGCTCCT 0.498000 46 96 0 0 0.000680045 0 0 FREM1 158326 broad.mit.edu 37 9 14824883 14824883 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:14824883C>T ENST00000380881.4 - 12 2807 c.1992G>A c.(1990-1992)aaG>aaA p.K664K FREM1_ENST00000380880.3_Silent_p.K663K|FREM1_ENST00000422223.2_Silent_p.K663K Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 663 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) GTAGCTGTTTCTTAGTTATAT 0.418000 10 37 0 0 0.000442599 0 0 B4GALNT3 283358 broad.mit.edu 37 12 666915 666915 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:666915C>T ENST00000266383.5 + 16 2535 c.2522C>T c.(2521-2523)tCc>tTc p.S841F NM_173593.3 NP_775864.3 Q6L9W6 B4GN3_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 3 841 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) CTGAAGAGGTCCAAGCTGCGG 0.577000 5 39 0 0 0.000157383 0 0 ASXL3 80816 broad.mit.edu 37 18 31325349 31325349 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr18:31325349G>A ENST00000269197.5 + 12 5537 c.5537G>A c.(5536-5538)gGa>gAa p.G1846E NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1846 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 TGTGAACCAGGAAAATTGTTG 0.478000 37 281 0 0 0.00128727 0 0 UBE2L6 9246 broad.mit.edu 37 11 57319895 57319895 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:57319895G>A ENST00000340573.4 - 4 806 c.200C>T c.(199-201)cCg>cTg p.P67L UBE2L6_ENST00000287156.4_Missense_Mutation_p.P133L NM_198183.2 NP_937826.1 O14933 UB2L6_HUMAN ubiquitin-conjugating enzyme E2L 6 133 negative regulation of type I interferon production cytosol protein binding|ubiquitin-protein ligase activity p.P133L(1) large_intestine(1)|lung(3)|ovary(1) 5 GAACAGCTCCGGATTCTGTGT 0.577000 14 196 0 0 0.000308642 0 0 CD81-AS1 101927682 broad.mit.edu 37 11 2356962 2356962 + RNA SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:2356962G>A ENST00000413483.1 - 0 407 RPL26P30_ENST00000602923.1_RNA CCGAGGTAACGAAGGGATTGA 0.517000 13 139 0 0 0.00074312 0 0 CDH6 1004 broad.mit.edu 37 5 31317792 31317792 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:31317792G>A ENST00000265071.2 + 11 1908 c.1643G>A c.(1642-1644)gGa>gAa p.G548E CDH6_ENST00000514738.1_Missense_Mutation_p.G493E NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 548 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 AACACGGCGGGAATCTTAACT 0.418000 7 73 0 0 0.000673444 0 0 LMOD1 25802 broad.mit.edu 37 1 201869306 201869306 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:201869306C>T ENST00000367288.4 - 2 1081 c.835G>A c.(835-837)Gaa>Aaa p.E279K NM_012134.2 NP_036266.2 P29536 LMOD1_HUMAN leiomodin 1 (smooth muscle) 279 8 X approximate tandem repeats. muscle contraction cytoskeleton|cytosol|membrane fraction tropomyosin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 GCTTCCTTTTCATGTAAGGGT 0.493000 6 45 0 0 0.00116845 0 0 POMT2 29954 broad.mit.edu 37 14 77750143 77750143 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr14:77750143G>A ENST00000261534.4 - 15 1852 c.1650C>T c.(1648-1650)atC>atT p.I550I NM_013382.5 NP_037514.2 Q9UKY4 POMT2_HUMAN protein-O-mannosyltransferase 2 550 protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0292) CACATACCCGGATCATGACCA 0.483000 9 109 0 0 0.000442599 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23803851 23803851 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:23803851C>T ENST00000264867.2 - 11 2256 c.2137G>A c.(2137-2139)Gat>Aat p.D713N PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 713 RRM. androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) TCTCACCCATCATCCCGCAGA 0.408000 5 64 0 0 8.12818e-05 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101834424 101834424 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:101834424G>A ENST00000506729.1 - 1 296 c.125C>T c.(124-126)tCg>tTg p.S42L SLCO6A1_ENST00000379807.3_Missense_Mutation_p.S42L|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.S42L|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.S42L|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.S42L Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 42 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) CCCGGGCTTCGAGGACTTCGG 0.577000 23 201 0 0 0.00047179 0 0 NRK 203447 broad.mit.edu 37 X 105178361 105178361 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:105178361G>A ENST00000428173.2 + 20 3730 c.3427G>A c.(3427-3429)Gat>Aat p.D1143N NRK_ENST00000243300.9_Missense_Mutation_p.D1142N Q7Z2Y5 NRK_HUMAN Nik related kinase 1142 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 AACACAATCAGATTTTTCTGC 0.443000 HNSCC(51;0.14) 14 45 0 0 0.000308642 0 0 SORCS1 114815 broad.mit.edu 37 10 108439046 108439046 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:108439046C>T ENST00000263054.6 - 12 1715 c.1708G>A c.(1708-1710)Gtc>Atc p.V570I SORCS1_ENST00000344440.6_Missense_Mutation_p.V570I|SORCS1_ENST00000369698.1_Missense_Mutation_p.V105I NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 570 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TCTGAAGAGACAAACATGCTG 0.398000 12 71 0 0 0.000151284 0 0 APBB2 323 broad.mit.edu 37 4 40892394 40892394 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:40892394G>A ENST00000295974.8 - 12 2142 c.1513C>T c.(1513-1515)Cgc>Tgc p.R505C APBB2_ENST00000513140.1_Missense_Mutation_p.R484C|APBB2_ENST00000506352.1_Missense_Mutation_p.R484C|APBB2_ENST00000508593.1_Missense_Mutation_p.R506C NM_001166050.1|NM_004307.1 NP_001159522.1|NP_004298.1 Q92870 APBB2_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 2 505 PID 1. cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1) 34 CCATTGTCGCGGCCCACGCCC 0.642000 5 35 0 0 0.000602214 0 0 OTX2 5015 broad.mit.edu 37 14 57269016 57269016 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr14:57269016C>T ENST00000339475.5 - 5 607 c.331G>A c.(331-333)Gga>Aga p.G111R OTX2_ENST00000408990.3_Missense_Mutation_p.G103R|OTX2_ENST00000554559.1_3'UTR|OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000555006.1_Missense_Mutation_p.G103R NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3 NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1 P32243 OTX2_HUMAN orthodenticle homeobox 2 103 axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway growth cone|nucleus|protein complex eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 19 Medulloblastoma(1;0.00184)|all_neural(1;0.00414) TTTTGACCTCCATTCTGCTGT 0.453000 9 120 0 0 0.000274275 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27535450 27535450 + RNA SNP T T C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:27535450T>C ENST00000574842.1 + 0 255 GCTCTTTCTGTTCATTCTGGG 0.428000 10 75 0 0 0.000442599 0 0 CPN2 1370 broad.mit.edu 37 3 194062184 194062184 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:194062184C>T ENST00000323830.3 - 2 1337 c.1248G>A c.(1246-1248)cgG>cgA p.R416R CPN2_ENST00000429275.1_Silent_p.R416R NM_001080513.2 NP_001073982.2 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 416 LRRCT. protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) TGTTCAGGAGCCGATCGGTGT 0.617000 5 37 0 0 0.00116845 0 0 ATP8B4 79895 broad.mit.edu 37 15 50158607 50158607 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:50158607G>A ENST00000284509.6 - 26 3243 c.3102C>T c.(3100-3102)tcC>tcT p.S1034S ATP8B4_ENST00000559829.1_Silent_p.S1034S NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 1034 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 breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TAAATAAAATGGAGAAATAAA 0.393000 7 41 0 0 8.12818e-05 0 0 DRD5 1816 broad.mit.edu 37 4 9784955 9784955 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:9784955C>T ENST00000304374.2 + 1 1698 c.1302C>T c.(1300-1302)ttC>ttT p.F434F NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 434 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) AGGGTCCTTTCGATCGCATGT 0.557000 9 69 0 0 0.000274275 0 0 ZNF623 9831 broad.mit.edu 37 8 144732969 144732969 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:144732969C>T ENST00000501748.2 + 1 1016 c.927C>T c.(925-927)caC>caT p.H309H ZNF623_ENST00000458270.2_Silent_p.H269H|ZNF623_ENST00000526926.1_Silent_p.H269H NM_014789.3 NP_055604.3 O75123 ZN623_HUMAN zinc finger protein 623 309 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3) 27 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) TTATTGAACACCAGAGAATTC 0.458000 10 73 0 0 0.00010058 0 0 PAPPA2 60676 broad.mit.edu 37 1 176679218 176679218 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:176679218G>A ENST00000367662.3 + 11 4721 c.3557G>A c.(3556-3558)gGa>gAa p.G1186E NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1186 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 ACTCCCAAAGGATACTTGGAT 0.463000 12 81 0 0 0.000978159 0 0 TP53BP1 7158 broad.mit.edu 37 15 43714221 43714221 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:43714221G>A ENST00000263801.3 - 19 4169 c.3917C>T c.(3916-3918)tCc>tTc p.S1306F TP53BP1_ENST00000382039.3_Missense_Mutation_p.S1311F|TP53BP1_ENST00000382044.4_Missense_Mutation_p.S1311F|TP53BP1_ENST00000450115.2_Missense_Mutation_p.S1311F NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 1306 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) TGCCTTGGAGGAGAAGGAGCT 0.547000 Other conserved DNA damage response genes 9 92 0 0 0.000442599 0 0 HAUS6 54801 broad.mit.edu 37 9 19070246 19070246 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:19070246G>A ENST00000380502.3 - 12 1814 c.1347C>T c.(1345-1347)acC>acT p.T449T HAUS6_ENST00000380496.1_Silent_p.T313T NM_017645.3 NP_060115.3 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 449 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleus|spindle autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GCGCTCCCAAGGTATCACTGT 0.299000 6 42 0 0 0.000157383 0 0 MYO7A 4647 broad.mit.edu 37 11 76924904 76924904 + Splice_Site SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:76924904G>A ENST00000409709.3 + 48 6710 c.e48-1 MYO7A_ENST00000409619.2_Splice_Site|MYO7A_ENST00000605744.1_Splice_Site|MYO7A_ENST00000458637.2_Splice_Site NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 TGCTCCCCCAGGATATCCTCA 0.602000 7 79 0 0 8.12818e-05 0 0 HCN4 10021 broad.mit.edu 37 15 73635897 73635897 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:73635897G>A ENST00000261917.3 - 2 2031 c.1038C>T c.(1036-1038)ttC>ttT p.F346F NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 346 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) TGGAGGAAATGAAATCTACCA 0.532000 5 47 0 0 0.000602214 0 0 PTPRD 5789 broad.mit.edu 37 9 8484228 8484228 + Missense_Mutation SNP T T G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:8484228T>G ENST00000381196.4 - 27 3847 c.3304A>C c.(3304-3306)Aag>Cag p.K1102Q PTPRD_ENST00000358503.5_Missense_Mutation_p.K1080Q|PTPRD_ENST00000540109.1_Missense_Mutation_p.K1102Q|PTPRD_ENST00000537002.1_Missense_Mutation_p.K688Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.K1102Q|PTPRD_ENST00000355233.5_Missense_Mutation_p.K691Q|PTPRD_ENST00000397606.3_Missense_Mutation_p.K681Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.K1089Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.K688Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.K681Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.K691Q NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1102 Fibronectin type-III 8. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GGTGCAGTCTTTGCCGTGACC 0.468000 TSP Lung(15;0.13) 7 61 0 0 0.000157383 0 0 ARAP1 116985 broad.mit.edu 37 11 72416905 72416905 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:72416905G>A ENST00000359373.5 - 13 2605 c.1754C>T c.(1753-1755)tCc>tTc p.S585F ARAP1_ENST00000455638.2_Missense_Mutation_p.S585F|ARAP1_ENST00000393605.3_Missense_Mutation_p.S345F|ARAP1_ENST00000393609.3_Missense_Mutation_p.S585F|ARAP1_ENST00000426523.1_Missense_Mutation_p.S340F|ARAP1_ENST00000334211.8_Missense_Mutation_p.S340F|ARAP1_ENST00000429686.1_Missense_Mutation_p.S340F Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 585 Arf-GAP. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 CCGCACCTTGGAGACGCCAGC 0.632000 34 366 0 0 0.000319135 0 0 DNTT 1791 broad.mit.edu 37 10 98064354 98064354 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:98064354G>A ENST00000419175.1 + 1 270 c.100G>A c.(100-102)Gat>Aat p.D34N DNTT_ENST00000371174.2_Missense_Mutation_p.D34N|RP11-35J23.1_ENST00000454484.2_RNA NM_001017520.1|NM_004088.3 NP_001017520.1|NP_004079.3 P04053 TDT_HUMAN DNA nucleotidylexotransferase 34 BRCT. DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) CAAATTTCAAGATTTGGTCGT 0.542000 15 54 0 0 0.000308642 0 0 MARVELD2 153562 broad.mit.edu 37 5 68716027 68716027 + Missense_Mutation SNP T T C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:68716027T>C ENST00000325631.5 + 2 889 c.815T>C c.(814-816)gTt>gCt p.V272A MARVELD2_ENST00000413223.2_Intron NM_001038603.2|NM_001244734.1 NP_001033692.2|NP_001231663.1 Q8N4S9 MALD2_HUMAN MARVEL domain containing 2 272 MARVEL. sensory perception of sound integral to membrane|tight junction NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1) 15 Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183) ATTATTCTGGTTCTTGGCATG 0.433000 17 97 0 0 0.00074312 0 0 PHLDB2 90102 broad.mit.edu 37 3 111632456 111632456 + Silent SNP A A G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:111632456A>G ENST00000431670.2 + 3 2037 c.1626A>G c.(1624-1626)gaA>gaG p.E542E PHLDB2_ENST00000393925.3_Silent_p.E542E|PHLDB2_ENST00000393923.3_Silent_p.E569E|PHLDB2_ENST00000481953.1_Silent_p.E542E|PHLDB2_ENST00000495180.1_Silent_p.E128E|PHLDB2_ENST00000412622.1_Silent_p.E542E|PHLDB2_ENST00000477695.1_Silent_p.E542E NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 542 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 GGAATGATGAACTACTCAGTG 0.532000 29 115 0 0 0.000279167 0 0 FYN 2534 broad.mit.edu 37 6 111995755 111995755 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:111995755G>A ENST00000354650.3 - 13 1958 c.1352C>T c.(1351-1353)tCt>tTt p.S451F FYN_ENST00000368682.3_Missense_Mutation_p.S448F|FYN_ENST00000368667.2_Missense_Mutation_p.S451F|FYN_ENST00000229471.4_Missense_Mutation_p.S396F|FYN_ENST00000538466.1_Missense_Mutation_p.S448F|FYN_ENST00000356013.2_Missense_Mutation_p.S396F|FYN_ENST00000368678.4_Missense_Mutation_p.S448F|FYN_ENST00000229470.5_Missense_Mutation_p.S399F NM_002037.5 NP_002028.1 P06241 FYN_HUMAN FYN oncogene related to SRC, FGR, YES 451 Protein kinase. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 30 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) GATTCCAAAAGACCACACGTC 0.527000 13 165 0 0 0.000151284 0 0 TMC5 79838 broad.mit.edu 37 16 19490830 19490830 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:19490830C>T ENST00000396229.2 + 14 2996 c.2247C>T c.(2245-2247)ttC>ttT p.F749F CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000381414.4_Silent_p.F749F|TMC5_ENST00000542583.2_Silent_p.F749F|TMC5_ENST00000561503.1_Silent_p.F390F|TMC5_ENST00000564959.1_Silent_p.F432F|TMC5_ENST00000541464.1_Silent_p.F697F|TMC5_ENST00000219821.5_Silent_p.F503F NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 749 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 TCAATTCCTTCCTGGGGGAGT 0.468000 13 150 0 0 0.00010058 0 0 RYR2 6262 broad.mit.edu 37 1 237780696 237780696 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:237780696C>T ENST00000366574.2 + 38 6143 c.5826C>T c.(5824-5826)ttC>ttT p.F1942F RYR2_ENST00000542537.1_Silent_p.F1926F|RYR2_ENST00000360064.6_Silent_p.F1940F NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1942 4 X approximate repeats. 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) ATCAACGTTTCCGATACAACG 0.463000 11 69 0 0 0.00010058 0 0 CACNA1H 8912 broad.mit.edu 37 16 1260800 1260800 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:1260800G>A ENST00000348261.5 + 21 4300 c.4052G>A c.(4051-4053)gGg>gAg p.G1351E CACNA1H_ENST00000565831.1_Missense_Mutation_p.G1351E|CACNA1H_ENST00000358590.4_Missense_Mutation_p.G1351E NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 1351 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) GTGGCCCTGGGGCTGCTGTCC 0.697000 5 47 0 0 0.000602214 0 0 WDR48 57599 broad.mit.edu 37 3 39116403 39116403 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:39116403C>T ENST00000302313.5 + 8 887 c.859C>T c.(859-861)Cgg>Tgg p.R287W WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.R205W|WDR48_ENST00000544962.1_Missense_Mutation_p.R79W NM_020839.2 NP_065890.1 Q8TAF3 WDR48_HUMAN WD repeat domain 48 287 interspecies interaction between organisms|protein deubiquitination lysosome|nucleus protein binding breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) CCCTGACATTCGGGTGCTAAT 0.383000 6 68 0 0 0.00116845 0 0 INSRR 3645 broad.mit.edu 37 1 156814414 156814414 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:156814414C>T ENST00000368195.3 - 14 2973 c.2577G>A c.(2575-2577)gaG>gaA p.E859E NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 859 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) GCACTGTGGCCTCCTGAGAGT 0.627000 10 34 0 0 0.000978159 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140711590 140711590 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:140711590G>A ENST00000517417.1 + 1 1339 c.1339G>A c.(1339-1341)Gac>Aac p.D447N PCDHGA1_ENST00000378105.3_Missense_Mutation_p.D447N NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGATATCAATGACAACTCCCC 0.468000 8 106 0 0 0.00010058 0 0 CSTF2 1478 broad.mit.edu 37 X 100077326 100077326 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:100077326G>A ENST00000415585.2 + 3 246 c.224G>A c.(223-225)cGg>cAg p.R75Q CSTF2_ENST00000486615.1_Intron|CSTF2_ENST00000372972.2_Missense_Mutation_p.R75Q P33240 CSTF2_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa 75 RRM. mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cleavage body|mRNA cleavage and polyadenylation specificity factor complex nucleotide binding|protein binding|RNA binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1) 13 AGTGCCATGCGGAACCTGAAT 0.478000 17 35 0 0 0.000422831 0 0 KCNJ3 3760 broad.mit.edu 37 2 155711651 155711651 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:155711651G>A ENST00000295101.2 + 3 1809 c.1332G>A c.(1330-1332)ccG>ccA p.P444P NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 444 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) GTTCAGTTCCGGGCAACTCAG 0.428000 6 58 0 0 8.12818e-05 0 0 OR2T4 127074 broad.mit.edu 37 1 248525014 248525014 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:248525014C>T ENST00000366475.1 + 1 132 c.132C>T c.(130-132)ttC>ttT p.F44F NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGTCGGATTTCATCCTGTTGG 0.473000 11 40 0 0 0.00010058 0 0 LOC440040 440040 broad.mit.edu 37 11 49598204 49598204 + RNA SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:49598204C>T ENST00000527477.1 + 0 808 TCCTCCTCTTCCTTCTGCTCC 0.512000 4 28 0 0 0.00116845 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125284880 125284880 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:125284880C>T ENST00000431078.1 + 10 1857 c.1493C>T c.(1492-1494)aCc>aTc p.T498I NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 498 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) GACAATCTCACCGATTCCCAA 0.453000 7 46 0 0 0.000157383 0 0 ILDR1 286676 broad.mit.edu 37 3 121712078 121712078 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:121712078C>T ENST00000273691.3 - 6 1491 c.1386G>A c.(1384-1386)gaG>gaA p.E462E ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_Silent_p.E417E|ILDR1_ENST00000462014.1_Silent_p.E474E|ILDR1_ENST00000344209.5_Silent_p.E506E NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 506 Arg-rich. cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) GCGGCTTCTCCTCGGGCCAGT 0.642000 5 25 0 0 8.12818e-05 0 0 TCHH 7062 broad.mit.edu 37 1 152085441 152085441 + Silent SNP A A G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:152085441A>G ENST00000368804.1 - 2 251 c.252T>C c.(250-252)gcT>gcC p.A84A NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 84 EF-hand 2.|S-100-like. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CATAGTAACAAGCTTGAGCCA 0.498000 11 107 0 0 0.000978159 0 0 CRIM1 51232 broad.mit.edu 37 2 36744661 36744661 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:36744661G>A ENST00000280527.2 + 12 2549 c.2182G>A c.(2182-2184)Gat>Aat p.D728N NM_016441.2 NP_057525.1 Q9NZV1 CRIM1_HUMAN cysteine rich transmembrane BMP regulator 1 (chordin-like) 728 VWFC 4. nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) ACGCACCCAGGATTCCTGCTG 0.602000 5 54 0 0 0.000157383 0 0 DNAH9 1770 broad.mit.edu 37 17 11539967 11539967 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:11539967G>A ENST00000262442.3 + 9 1720 c.1652G>A c.(1651-1653)gGa>gAa p.G551E DNAH9_ENST00000454412.2_Missense_Mutation_p.G551E NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 551 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GACATAGCAGGAAACCTCCTT 0.428000 6 71 0 0 0.000157383 0 0 CEACAM8 1088 broad.mit.edu 37 19 43097973 43097973 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:43097973C>T ENST00000244336.5 - 2 245 c.144G>A c.(142-144)ggG>ggA p.G48G CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA NM_001816.3 NP_001807.2 P31997 CEAM8_HUMAN carcinoembryonic antigen-related cell adhesion molecule 8 48 Ig-like V-type. immune response anchored to membrane|extracellular space|integral to plasma membrane endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 16 Prostate(69;0.00899) GAACCTCCTTCCCCTCTGCAG 0.537000 15 140 0 0 0.00121646 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 4925489 4925489 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrY:4925489G>A ENST00000333703.4 + 4 1105 c.592G>A c.(592-594)Gaa>Aaa p.E198K PCDH11Y_ENST00000362095.5_Missense_Mutation_p.E209K|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.E209K NM_001278619.1|NM_032971.2 NP_001265548.1|NP_116753.1 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked 209 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 TCAAAACTACGAACTAATTAA 0.308000 4 16 0 0 0.000602214 0 0 MXRA5 25878 broad.mit.edu 37 X 3240713 3240713 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:3240713G>A ENST00000217939.6 - 5 3167 c.3013C>T c.(3013-3015)Ccc>Tcc p.P1005S NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1005 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) CAGATGGTGGGGGTTGGAGTA 0.463000 31 61 0 0 0.00058488 0 0 NSUN4 387338 broad.mit.edu 37 1 46810568 46810568 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:46810568C>T ENST00000474844.1 + 2 839 c.189C>T c.(187-189)atC>atT p.I63I NSUN4_ENST00000536062.1_Silent_p.I14I|NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000537428.1_Silent_p.I14I NM_199044.3 NP_950245.2 Q96CB9 NSUN4_HUMAN NOP2/Sun domain family, member 4 63 methyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 8 Acute lymphoblastic leukemia(166;0.155) GGCCATCAATCCGTGTCAGTC 0.493000 48 108 0 0 0.000781405 0 0 DNAH8 1769 broad.mit.edu 37 6 38738242 38738242 + Missense_Mutation SNP A A T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:38738242A>T ENST00000359357.3 + 10 1274 c.1020A>T c.(1018-1020)aaA>aaT p.K340N DNAH8_ENST00000449981.2_Missense_Mutation_p.K557N|DNAH8_ENST00000441566.1_Missense_Mutation_p.K340N 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 AAACAAGGAAACTGATTTCAG 0.323000 8 47 0 0 0.000673444 0 0 TPO 7173 broad.mit.edu 37 2 1480956 1480956 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:1480956G>A ENST00000345913.4 + 8 1009 c.918G>A c.(916-918)ggG>ggA p.G306G TPO_ENST00000337415.3_Silent_p.G306G|TPO_ENST00000346956.3_Silent_p.G306G|TPO_ENST00000349624.3_Intron|TPO_ENST00000497517.2_Intron|TPO_ENST00000329066.4_Silent_p.G306G|TPO_ENST00000382198.1_Intron|TPO_ENST00000382201.3_Silent_p.G306G NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 306 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) CGCTCTTTGGGAACCTGTCCA 0.711000 4 22 0 0 0.00024832 0 0 PTGER3 5733 broad.mit.edu 37 1 71418655 71418655 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:71418655C>T ENST00000356595.4 - 4 1402 c.1192G>A c.(1192-1194)Gaa>Aaa p.E398K PTGER3_ENST00000414819.1_3'UTR|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000370931.3_Intron NM_198718.1 NP_942011.1 P43115 PE2R3_HUMAN prostaglandin E receptor 3 (subtype EP3) 0 cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity p.E398*(1) endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 Bimatoprost(DB00905) ACCTCCATTTCTTCTCTGTTC 0.413000 21 93 0 0 0.000878237 0 0 STAB1 23166 broad.mit.edu 37 3 52554133 52554133 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:52554133C>T ENST00000321725.6 + 51 5485 c.5409C>T c.(5407-5409)gtC>gtT p.V1803V NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1803 FAS1 6. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) TTCGCAATGTCGAGGTGGGTG 0.602000 7 55 0 0 8.12818e-05 0 0 CSF1R 1436 broad.mit.edu 37 5 149452977 149452977 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:149452977G>A ENST00000286301.3 - 7 1260 c.969C>T c.(967-969)gtC>gtT p.V323V CSF1R_ENST00000543093.1_Intron NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 323 Ig-like C2-type 4. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) CCTCCACCATGACTTTGAGGT 0.552000 17 172 0 0 0.00121646 0 0 FIBIN 387758 broad.mit.edu 37 11 27016165 27016165 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:27016165G>A ENST00000318627.2 + 1 538 c.92G>A c.(91-93)gGg>gAg p.G31E NM_203371.1 NP_976249.1 Q8TAL6 FIBIN_HUMAN fin bud initiation factor homolog (zebrafish) 31 extracellular region|Golgi apparatus breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1) 11 ATGTCCAATGGGACTCTGCAC 0.542000 7 45 0 0 8.12818e-05 0 0 SYT13 57586 broad.mit.edu 37 11 45274137 45274137 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:45274137G>A ENST00000020926.3 - 4 792 c.681C>T c.(679-681)ctC>ctT p.L227L NM_001247987.1|NM_020826.2 NP_001234916.1|NP_065877.1 Q7L8C5 SYT13_HUMAN synaptotagmin XIII 227 C2 1. transport vesicle breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2) 23 CCGCCAGGGGGAGCACCAGGC 0.677000 OREG0020928 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 68 0 0 0.000978159 0 0 NRG1 3084 broad.mit.edu 37 8 32621406 32621406 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:32621406C>T ENST00000338921.4 + 13 1950 c.1433C>T c.(1432-1434)cCc>cTc p.P478L NRG1_ENST00000539990.1_Missense_Mutation_p.P313L|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000519301.1_Missense_Mutation_p.P420L|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000356819.4_Missense_Mutation_p.P475L|NRG1_ENST00000287845.5_Missense_Mutation_p.P441L|NRG1_ENST00000287842.3_Missense_Mutation_p.P467L|NRG1_ENST00000405005.2_Missense_Mutation_p.P470L|NRG1_ENST00000287840.5_Missense_Mutation_p.P470L Q02297 NRG1_HUMAN neuregulin 1 470 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) GCGGTCAGCCCCTTCATGGAA 0.567000 9 57 0 0 0.000274275 0 0 TTN 7273 broad.mit.edu 37 2 179659214 179659214 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:179659214C>T ENST00000589042.1 - 8 1534 c.1310G>A c.(1309-1311)aGa>aAa p.R437K TTN_ENST00000359218.5_Missense_Mutation_p.R437K|TTN_ENST00000342992.6_Missense_Mutation_p.R437K|TTN_ENST00000342175.6_Missense_Mutation_p.R437K|TTN_ENST00000360870.5_Missense_Mutation_p.R437K|TTN_ENST00000460472.2_Missense_Mutation_p.R437K|TTN_ENST00000591111.1_Missense_Mutation_p.R437K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 437 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) TTCTCTCACTCTGGCCATATC 0.478000 22 126 0 0 0.000295444 0 0 NDST3 9348 broad.mit.edu 37 4 118976018 118976018 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:118976018G>A ENST00000296499.5 + 2 1356 c.953G>A c.(952-954)gGa>gAa p.G318E NDST3_ENST00000433996.2_Missense_Mutation_p.G318E NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 318 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 GGAAAAGAGGGAACAAGAATG 0.393000 8 56 0 0 0.000157383 0 0 SNED1 25992 broad.mit.edu 37 2 241991542 241991542 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:241991542C>T ENST00000310397.8 + 14 1937 c.1937C>T c.(1936-1938)cCc>cTc p.P646L SNED1_ENST00000405547.3_Missense_Mutation_p.P646L|SNED1_ENST00000401884.1_Missense_Mutation_p.P646L|SNED1_ENST00000469006.1_3'UTR|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000342631.6_Missense_Mutation_p.P646L NM_001080437.1 NP_001073906.1 Q8TER0 SNED1_HUMAN sushi, nidogen and EGF-like domains 1 646 EGF-like 9. cell-matrix adhesion extracellular region calcium ion binding NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 24 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) TGTGACTGTCCCCCAGGCTTC 0.612000 7 55 0 0 0.000157383 0 0 LILRB5 10990 broad.mit.edu 37 19 54760148 54760148 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:54760148C>T ENST00000450632.1 - 4 463 c.386G>A c.(385-387)gGa>gAa p.G129E LILRB5_ENST00000449561.2_Missense_Mutation_p.G138E|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Missense_Mutation_p.G138E O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 138 Ig-like C2-type 2. 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) GGTCACATTTCCTCCTGAGGC 0.542000 14 99 0 0 0.000566183 0 0 MYH8 4626 broad.mit.edu 37 17 10317334 10317334 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:10317334G>A ENST00000403437.2 - 12 1126 c.1032C>T c.(1030-1032)ttC>ttT p.F344F CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 344 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CTTCAGGAGTGAAGCCCAGGA 0.428000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 10 81 0 0 0.000673444 0 0 CCT5 22948 broad.mit.edu 37 5 10263303 10263303 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:10263303C>T ENST00000280326.4 + 10 1795 c.1375C>T c.(1375-1377)Ccc>Tcc p.P459S CCT5_ENST00000515676.1_Missense_Mutation_p.P421S|CCT5_ENST00000506600.1_Missense_Mutation_p.P366S|CCT5_ENST00000503026.1_Missense_Mutation_p.P438S|CCT5_ENST00000515390.1_Missense_Mutation_p.P404S NM_012073.3 NP_036205.1 P48643 TCPE_HUMAN chaperonin containing TCP1, subunit 5 (epsilon) 459 'de novo' posttranslational protein folding|response to virus microtubule organizing center|nucleolus ATP binding|unfolded protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2) 26 GGAGGTCATCCCCATGGCCCT 0.532000 12 63 0 0 0.00010058 0 0 ZNF544 27300 broad.mit.edu 37 19 58772598 58772598 + Missense_Mutation SNP A A G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:58772598A>G ENST00000269829.4 + 7 1100 c.626A>G c.(625-627)gAt>gGt p.D209G ZNF544_ENST00000415203.2_Missense_Mutation_p.D181G|ZNF544_ENST00000600044.1_Missense_Mutation_p.D181G|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596652.1_Missense_Mutation_p.D209G|ZNF544_ENST00000600220.1_Missense_Mutation_p.D181G|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000599953.1_Missense_Mutation_p.D67G|CTD-3138B18.5_ENST00000597230.1_RNA|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596929.1_Intron NM_014480.2 NP_055295.2 Q6NX49 ZN544_HUMAN zinc finger protein 544 209 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1) 18 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018) AATGGAGCAGATGGGAAGCAC 0.378000 14 52 0 0 0.000308642 0 0 CACNA1E 777 broad.mit.edu 37 1 181701992 181701992 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:181701992C>T ENST00000526775.1 + 19 2878 c.2713C>T c.(2713-2715)Cgc>Tgc p.R905C CACNA1E_ENST00000358338.5_Missense_Mutation_p.R856C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R531C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R924C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R924C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R875C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R905C NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 924 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 CAGCCGGCATCGCCGCGTCAG 0.647000 17 136 0 0 0.000958276 0 0 ZNF521 25925 broad.mit.edu 37 18 22804972 22804972 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr18:22804972G>A ENST00000361524.3 - 4 3058 c.2910C>T c.(2908-2910)tcC>tcT p.S970S ZNF521_ENST00000584787.1_Silent_p.S750S|ZNF521_ENST00000538137.2_Silent_p.S970S NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 970 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GAGTTAAAAGGGAGGGAAACC 0.483000 T PAX5 ALL 11 66 0 0 0.000673444 0 0 TET1 80312 broad.mit.edu 37 10 70411639 70411639 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:70411639C>T ENST00000373644.4 + 5 4522 c.4313C>T c.(4312-4314)aCa>aTa p.T1438I NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 1438 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 CCATATTATACACACCTTGGG 0.423000 42 156 0 0 0.000781405 0 0 BICD1 636 broad.mit.edu 37 12 32481285 32481285 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:32481285C>T ENST00000548411.1 + 5 2077 c.1896C>T c.(1894-1896)atC>atT p.I632I BICD1_ENST00000281474.5_Silent_p.I632I NM_001003398.1 NP_001003398.1 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 632 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) ATGCCATAATCCGGGACCAAA 0.488000 22 120 0 0 0.000295444 0 0 OR10H3 26532 broad.mit.edu 37 19 15852774 15852774 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:15852774G>A ENST00000305892.1 + 1 572 c.572G>A c.(571-573)gGg>gAg p.G191E NM_013938.1 NP_039226.1 O60404 O10H3_HUMAN olfactory receptor, family 10, subfamily H, member 3 191 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G191E(1) cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 TTGGCCTGTGGGAGCAAGACA 0.463000 21 146 0 0 0.000229342 0 0 UBR4 23352 broad.mit.edu 37 1 19430658 19430658 + Missense_Mutation SNP C C A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:19430658C>A ENST00000375267.2 - 87 12824 c.12821G>T c.(12820-12822)cGg>cTg p.R4274L UBR4_ENST00000375217.2_Missense_Mutation_p.R4267L|UBR4_ENST00000375254.3_Missense_Mutation_p.R4274L|UBR4_ENST00000375226.2_Missense_Mutation_p.R4250L|UBR4_ENST00000375224.1_5'UTR Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 4274 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CACCAGCTTCCGCAAGCACAG 0.532000 8 94 0.000274275 0.00226146 0.000274275 1 0 HTR3B 9177 broad.mit.edu 37 11 113780094 113780094 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:113780094C>T ENST00000260191.2 + 2 387 c.130C>T c.(130-132)Cat>Tat p.H44Y HTR3B_ENST00000537778.1_Missense_Mutation_p.H33Y NM_006028.4 NP_006019.1 O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B, ionotropic 44 synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11) 20 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) ACAGAAATATCATAAAGAAGT 0.438000 11 77 0 0 0.000978159 0 0 PCLO 27445 broad.mit.edu 37 7 82764435 82764435 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:82764435C>T ENST00000423517.2 - 3 2768 c.2431G>A c.(2431-2433)Gaa>Aaa p.E811K PCLO_ENST00000333891.8_Missense_Mutation_p.E811K NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 757 Pro-rich. 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 CTGACTTTTTCCCCTGTTGGT 0.433000 19 185 0 0 0.000586117 0 0 PCLO 27445 broad.mit.edu 37 7 82582185 82582185 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:82582185G>A ENST00000423517.2 - 5 8421 c.8084C>T c.(8083-8085)tCc>tTc p.S2695F PCLO_ENST00000333891.8_Missense_Mutation_p.S2695F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2626 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 AATTGTTATGGAAATGCTGCT 0.413000 6 28 0 0 0.00116845 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21054371 21054371 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:21054371C>T ENST00000381545.3 + 15 2054 c.1835C>T c.(1834-1836)gCt>gTt p.A612V LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.A612V|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.A612V|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.A612V NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 612 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) GCACAAGGGGCTTGTAGGATA 0.358000 14 100 0 0 0.000219431 0 0 ARMC9 80210 broad.mit.edu 37 2 232156154 232156154 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:232156154C>T ENST00000349938.4 + 18 1909 c.1715C>T c.(1714-1716)tCc>tTc p.S572F ARMC9_ENST00000483477.1_3'UTR NM_001271466.1|NM_025139.3 NP_001258395.1|NP_079415.3 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 572 binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) CAGCTAAATTCCGGTCAGTTT 0.408000 15 105 0 0 0.000308642 0 0 DNAH9 1770 broad.mit.edu 37 17 11666863 11666863 + Missense_Mutation SNP G G A rs140313224 TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:11666863G>A ENST00000262442.3 + 36 7170 c.7102G>A c.(7102-7104)Gaa>Aaa p.E2368K DNAH9_ENST00000454412.2_Missense_Mutation_p.E2368K NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2368 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.E2368K(1) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CTGCCCTAAGGAAATTTATGA 0.493000 11 80 0 0 0.000978159 0 0 CEACAM16 388551 broad.mit.edu 37 19 45211152 45211152 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:45211152G>A ENST00000587331.1 + 6 1175 c.960G>A c.(958-960)atG>atA p.M320I CEACAM16_ENST00000405314.2_Missense_Mutation_p.M320I|CTB-171A8.1_ENST00000590796.1_RNA NM_001039213.2 NP_001034302.2 A7LI12 A7LI12_HUMAN carcinoembryonic antigen-related cell adhesion molecule 16 320 endometrium(3)|large_intestine(2)|lung(3)|ovary(1) 9 Lung NSC(12;0.000698)|all_lung(12;0.002) Prostate(69;0.0376)|Ovarian(192;0.231) TTGCCACGATGATCGTGCCCG 0.657000 12 132 0 0 0.000151284 0 0 CNBD2 140894 broad.mit.edu 37 20 34583006 34583006 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:34583006C>T ENST00000373973.3 + 8 1075 c.902C>T c.(901-903)tCc>tTc p.S301F CNBD2_ENST00000349339.1_Missense_Mutation_p.S301F|CNBD2_ENST00000538900.1_Missense_Mutation_p.S301F cyclic nucleotide binding domain containing 2 GCCTCCCCTTCCTACCGTAGA 0.582000 OREG0025897 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 91 0 0 0.000274275 0 0 FCHO1 23149 broad.mit.edu 37 19 17888970 17888970 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:17888970G>A ENST00000594202.1 + 19 1563 c.1284G>A c.(1282-1284)gaG>gaA p.E428E FCHO1_ENST00000539407.1_Silent_p.E428E|FCHO1_ENST00000600676.1_Silent_p.E428E|FCHO1_ENST00000596536.1_Silent_p.E428E|FCHO1_ENST00000595033.1_Silent_p.E378E|FCHO1_ENST00000389133.4_Silent_p.E428E|FCHO1_ENST00000596951.1_Silent_p.E428E|FCHO1_ENST00000597512.1_Silent_p.E435E|FCHO1_ENST00000252771.7_Silent_p.E428E NM_001161357.1 NP_001154829.1 O14526 FCHO1_HUMAN FCH domain only 1 428 NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 TGCAGTCAGAGGAGCAGGTGT 0.557000 8 84 0 0 0.000274275 0 0 CACNA1E 777 broad.mit.edu 37 1 181727953 181727953 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:181727953C>T ENST00000526775.1 + 31 4662 c.4497C>T c.(4495-4497)acC>acT p.T1499T CACNA1E_ENST00000358338.5_Silent_p.T1450T|CACNA1E_ENST00000367567.4_Silent_p.T1125T|CACNA1E_ENST00000367573.2_Silent_p.T1518T|CACNA1E_ENST00000367570.1_Silent_p.T1518T|CACNA1E_ENST00000357570.5_Silent_p.T1469T|CACNA1E_ENST00000360108.3_Silent_p.T1499T NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1518 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 TCGCCTTCACCATGGTGTTTT 0.468000 14 134 0 0 0.00074312 0 0 OR1S1 219959 broad.mit.edu 37 11 57982703 57982703 + Missense_Mutation SNP T T C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:57982703T>C ENST00000309433.6 + 1 487 c.487T>C c.(487-489)Ttc>Ctc p.F163L NM_001004458.1 NP_001004458.1 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, member 1 163 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3) 48 Breast(21;0.0589) CATCTCATGGTTCCTCAGTAA 0.483000 18 123 0 0 0.000958276 0 0 ANGPTL1 9068 broad.mit.edu 37 1 178822870 178822870 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:178822870C>T ENST00000234816.2 - 4 1323 c.876G>A c.(874-876)ggG>ggA p.G292G RALGPS2_ENST00000324778.4_Intron|RALGPS2_ENST00000367635.3_Intron|ANGPTL1_ENST00000367629.1_Silent_p.G292G|RALGPS2_ENST00000367634.2_Intron NM_004673.3 NP_004664.1 O95841 ANGL1_HUMAN angiopoietin-like 1 292 Fibrinogen C-terminal. extracellular space receptor binding breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 14 TCATATAAATCCCACTGACCG 0.378000 5 90 0 0 0.00116845 0 0 PDILT 204474 broad.mit.edu 37 16 20384393 20384393 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:20384393C>T ENST00000302451.4 - 6 981 c.733G>A c.(733-735)Gaa>Aaa p.E245K NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 245 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 CGATTGAGTTCCTGTTTGTTG 0.423000 16 108 0 0 0.00121646 0 0 PMS1 5378 broad.mit.edu 37 2 190742046 190742046 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:190742046G>A ENST00000441310.2 + 13 2916 c.2683G>A c.(2683-2685)Gag>Aag p.E895K PMS1_ENST00000447232.2_Missense_Mutation_p.E733K|PMS1_ENST00000409823.3_Missense_Mutation_p.E856K|PMS1_ENST00000418224.3_Missense_Mutation_p.E719K|PMS1_ENST00000432292.3_Missense_Mutation_p.E719K NM_000534.4 NP_000525.1 P54277 PMS1_HUMAN PMS1 postmeiotic segregation increased 1 (S. cerevisiae) 895 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) CTTATCAAAAGAGGACATCCA 0.388000 """Mis, N""" """colorectal, endometrial, ovarian""" Direct reversal of damage;Mismatch excision repair (MMR) 6 50 0 0 8.12818e-05 0 0 AHSG 197 broad.mit.edu 37 3 186333585 186333585 + Splice_Site SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:186333585G>A ENST00000411641.2 + 2 543 c.e2+1 AHSG_ENST00000273784.5_Splice_Site P02765 FETUA_HUMAN alpha-2-HS-glycoprotein acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development extracellular space cysteine-type endopeptidase inhibitor activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1) 22 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) GAAGGAGCATGTGAGTACCCT 0.567000 7 47 0 0 0.000157383 0 0 MYH4 4622 broad.mit.edu 37 17 10356585 10356585 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:10356585C>T ENST00000255381.2 - 24 3105 c.2995G>A c.(2995-2997)Gag>Aag p.E999K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 999 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 GCCTTCTTCTCCTTGGTCAGC 0.488000 14 178 0 0 0.000566183 0 0 ATP8A2 51761 broad.mit.edu 37 13 26127990 26127990 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr13:26127990C>T ENST00000381655.2 + 12 1259 c.1117C>T c.(1117-1119)Ctt>Ttt p.L373F ATP8A2_ENST00000255283.8_Missense_Mutation_p.L333F NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 333 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) ATACAACAATCTTATTCCCAT 0.393000 12 101 0 0 0.000151284 0 0 CNGB3 54714 broad.mit.edu 37 8 87738790 87738790 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:87738790C>T ENST00000320005.5 - 3 354 c.307G>A c.(307-309)Gaa>Aaa p.E103K CNGB3_ENST00000519777.1_5'UTR|RP11-386D6.1_ENST00000519041.1_RNA NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 103 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 GGGTCCATTTCCTTCTGCTCT 0.438000 30 199 0 0 0.000409698 0 0 VPS41 27072 broad.mit.edu 37 7 38812206 38812206 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:38812206G>A ENST00000310301.4 - 13 1098 c.1044C>T c.(1042-1044)atC>atT p.I348I VPS41_ENST00000466017.1_5'UTR|VPS41_ENST00000395969.2_Silent_p.I323I NM_014396.3 NP_055211.2 P49754 VPS41_HUMAN vacuolar protein sorting 41 homolog (S. cerevisiae) 348 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 44 TCGGACTCACGATGTAAAAAA 0.428000 6 26 0 0 0.000673444 0 0 LRRC10 376132 broad.mit.edu 37 12 70004285 70004285 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:70004285C>T ENST00000361484.3 - 1 657 c.334G>A c.(334-336)Gac>Aac p.D112N NM_201550.2 NP_963844.2 Q5BKY1 LRC10_HUMAN leucine rich repeat containing 10 112 nucleus large_intestine(2)|lung(6) 8 all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) CTGGGGAGGTCGCAGAGTTTG 0.572000 11 78 0 0 0.000978159 0 0 ZNF229 7772 broad.mit.edu 37 19 44934694 44934694 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:44934694C>T ENST00000291187.4 - 6 566 c.244G>A c.(244-246)Gag>Aag p.E82K ZNF229_ENST00000588931.1_Missense_Mutation_p.E88K|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 88 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) TGAATATACTCCGTATCCTTT 0.418000 5 37 0 0 0.00116845 0 0 DAB1 1600 broad.mit.edu 37 1 57480937 57480937 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:57480937G>A ENST00000371236.2 - 12 1326 c.1063C>T c.(1063-1065)Cca>Tca p.P355S DAB1_ENST00000371234.4_Missense_Mutation_p.P355S|DAB1_ENST00000371231.1_Missense_Mutation_p.P388S|DAB1_ENST00000439789.2_Missense_Mutation_p.P269S|DAB1_ENST00000414851.2_Missense_Mutation_p.P337S|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Missense_Mutation_p.P353S O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 388 cell differentiation|nervous system development p.P355S(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 GCCACAGTTGGCCAGGGCTGC 0.652000 22 91 0 0 0.00106085 0 0 ECM2 1842 broad.mit.edu 37 9 95285090 95285090 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:95285090C>T ENST00000344604.5 - 2 208 c.59G>A c.(58-60)gGa>gAa p.G20E ECM2_ENST00000375540.1_Missense_Mutation_p.G20E|ECM2_ENST00000444490.2_Missense_Mutation_p.G20E|CENPP_ENST00000375587.3_Intron NM_001197295.1|NM_001393.3 NP_001184224.1|NP_001384.1 O94769 ECM2_HUMAN extracellular matrix protein 2, female organ and adipocyte specific 20 cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 TTCATTTTTTCCAAAGTCAGT 0.348000 17 55 0 0 0.000566183 0 0 SAMD7 344658 broad.mit.edu 37 3 169642886 169642886 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:169642886C>T ENST00000428432.2 + 5 641 c.252C>T c.(250-252)gcC>gcT p.A84A SAMD7_ENST00000335556.3_Silent_p.A84A NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 84 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) AGGCAGTGGCCAGAAGGAATG 0.358000 7 49 0 0 0.000274275 0 0 B4GALT3 8703 broad.mit.edu 37 1 161144857 161144857 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:161144857G>A ENST00000319769.5 - 4 637 c.415C>T c.(415-417)Cgc>Tgc p.R139C PPOX_ENST00000535223.1_Intron|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000495483.1_Intron|B4GALT3_ENST00000367998.1_Missense_Mutation_p.R139C|PPOX_ENST00000432542.2_Intron NM_001199873.1|NM_003779.3 NP_001186802.1|NP_003770.1 O60512 B4GT3_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 139 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity cervix(1)|endometrium(5)|large_intestine(6)|lung(6) 18 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) N-Acetyl-D-glucosamine(DB00141) AGCAGCAGGCGCAGGTGGTGC 0.622000 7 145 0 0 0.000157383 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269298 150269298 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:150269298G>A ENST00000255945.2 + 3 315 c.140G>A c.(139-141)gGa>gAa p.G47E GIMAP4_ENST00000461940.1_Missense_Mutation_p.G61E|GIMAP4_ENST00000494750.1_3'UTR NM_018326.2 NP_060796.1 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 47 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGTGCAACAGGAAACAGCATC 0.463000 7 52 0 0 8.12818e-05 0 0 INSRR 3645 broad.mit.edu 37 1 156814413 156814413 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:156814413C>T ENST00000368195.3 - 14 2974 c.2578G>A c.(2578-2580)Gcc>Acc p.A860T NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 860 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) AGCACTGTGGCCTCCTGAGAG 0.627000 10 35 0 0 0.000978159 0 0 ERI3 79033 broad.mit.edu 37 1 44820606 44820606 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:44820606G>A ENST00000372257.2 - 1 274 c.93C>T c.(91-93)ctC>ctT p.L31L ERI3_ENST00000495828.1_5'UTR NM_024066.1 NP_076971.1 O43414 ERI3_HUMAN ERI1 exoribonuclease family member 3 31 intracellular exonuclease activity|metal ion binding|nucleic acid binding endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 AAGTCCAGGGGAGAGTAAGGG 0.701000 9 23 0 0 0.000673444 0 0 BRINP1 1620 broad.mit.edu 37 9 122011315 122011315 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:122011315C>T ENST00000265922.3 - 3 793 c.332G>A c.(331-333)aGa>aAa p.R111K DBC1_ENST00000373964.2_Missense_Mutation_p.R111K NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 111 MACPF. cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 AGTGGTAGGTCTCCTGCCAAG 0.567000 8 68 0 0 0.000442599 0 0 OR7E24 26648 broad.mit.edu 37 19 9361896 9361896 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:9361896G>A ENST00000456448.1 + 1 291 c.177G>A c.(175-177)ggG>ggA p.G59G NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 CGGTGCTGGGGAACCTGCTCA 0.577000 4 46 0 0 0.00024832 0 0 SNTG1 54212 broad.mit.edu 37 8 51449301 51449301 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:51449301G>A ENST00000522124.1 + 11 1274 c.613G>A c.(613-615)Gac>Aac p.D205N SNTG1_ENST00000518864.1_Missense_Mutation_p.D205N|SNTG1_ENST00000276467.5_Missense_Mutation_p.D205N|SNTG1_ENST00000517473.1_Missense_Mutation_p.D205N NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 205 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) GCGATGGTGCGACCTCAGACT 0.478000 10 122 0 0 0.000442599 0 0 VSTM4 196740 broad.mit.edu 37 10 50227709 50227709 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:50227709C>T ENST00000332853.3 - 8 972 c.949G>A c.(949-951)Gag>Aag p.E317K NM_001031746.3 NP_001026916.2 Q8IW00 CJ072_HUMAN V-set and transmembrane domain containing 4 317 integral to membrane|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 AGCTTGTTCTCCTCGAAGAGG 0.512000 14 57 0 0 0.000219431 0 0 IMPG1 3617 broad.mit.edu 37 6 76660470 76660470 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:76660470G>A ENST00000369950.3 - 13 1822 c.1633C>T c.(1633-1635)Cat>Tat p.H545Y IMPG1_ENST00000369963.3_3'UTR NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 545 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) TCCAAGAAATGATCTGGGACA 0.488000 9 50 0 0 0.000673444 0 0 ZNF649 65251 broad.mit.edu 37 19 52393992 52393992 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:52393992G>A ENST00000354957.3 - 5 1681 c.1397C>T c.(1396-1398)cCt>cTt p.P466L ZNF649_ENST00000600738.1_Missense_Mutation_p.P438L|CTC-429C10.2_ENST00000600329.1_RNA NM_023074.3 NP_075562.2 Q9BS31 ZN649_HUMAN zinc finger protein 649 466 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) TGCTGTGGAAGGATTTTCCAC 0.448000 28 196 0 0 0.000409698 0 0 ZAN 7455 broad.mit.edu 37 7 100350559 100350559 + RNA SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:100350559C>T ENST00000542585.1 + 0 2979 ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_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) CTCACCATCCCCACAGAAAAA 0.507000 4 50 0 0 0.000602214 0 0 INTS3 65123 broad.mit.edu 37 1 153713833 153713833 + Nonsense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:153713833C>T ENST00000318967.2 + 3 875 c.307C>T c.(307-309)Caa>Taa p.Q103* INTS3_ENST00000456435.1_5'UTR|INTS3_ENST00000435409.2_Nonsense_Mutation_p.Q103* NM_023015.3 NP_075391.3 Q68E01 INT3_HUMAN integrator complex subunit 3 103 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TGAACCTGCCCAAGCCCAGAA 0.483000 11 109 0 0 0.000673444 0 0 MIR329-1 574408 broad.mit.edu 37 14 101493194 101493194 + RNA SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr14:101493194C>T ENST00000385028.1 + 0 73 NR_029967.1 AACCTCTTTTCCAGTATCAAA 0.463000 10 73 0 0 0.00010058 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128844001 128844001 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:128844001G>A ENST00000524655.1 - 19 2850 c.2827C>T c.(2827-2829)Cca>Tca p.P943S ARHGAP32_ENST00000392657.3_Intron|ARHGAP32_ENST00000527272.1_Intron|ARHGAP32_ENST00000310343.9_Intron A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 1017 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 AGAAAGAATGGAGGAAAACAA 0.428000 8 78 0 0 0.000442599 0 0 MYH8 4626 broad.mit.edu 37 17 10304036 10304036 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:10304036C>T ENST00000403437.2 - 27 3500 c.3406G>A c.(3406-3408)Gag>Aag p.E1136K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1136 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CGCTGCTTCTCCGCTTTGGCT 0.552000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 7 82 0 0 0.000274275 0 0 PHLPP2 23035 broad.mit.edu 37 16 71683447 71683447 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:71683447C>T ENST00000393524.2 - 17 3850 c.3117G>A c.(3115-3117)ctG>ctA p.L1039L PHLPP2_ENST00000356272.3_Silent_p.L1106L|PHLPP2_ENST00000568954.1_Silent_p.L1106L|PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000567016.1_Silent_p.L1141L|PHLPP2_ENST00000360429.3_Intron Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 1106 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 AGGCAGTGTCCAGGCCCCCAG 0.597000 8 55 0 0 0.000157383 0 0 COL14A1 7373 broad.mit.edu 37 8 121381578 121381578 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:121381578G>A ENST00000297848.3 + 47 5435 c.5165G>A c.(5164-5166)gGg>gAg p.G1722E COL14A1_ENST00000247781.3_Missense_Mutation_p.G1627E|COL14A1_ENST00000309791.4_Missense_Mutation_p.G1722E NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1722 Triple-helical region 2 (COL1). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) GGACCTTCAGGGGAGAGTCGG 0.557000 8 61 0 0 0.000442599 0 0 ADAM7 8756 broad.mit.edu 37 8 24365042 24365042 + Missense_Mutation SNP C C G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:24365042C>G ENST00000175238.6 + 21 2341 c.2258C>G c.(2257-2259)gCc>gGc p.A753G ADAM7_ENST00000380789.1_Missense_Mutation_p.A775G|ADAM7_ENST00000520720.1_Intron|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 753 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) AATCAAAGTGCCAAGTGGTAG 0.378000 5 63 0 0 8.12818e-05 0 0 PAX1 5075 broad.mit.edu 37 20 21689274 21689274 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:21689274C>T ENST00000398485.2 + 3 1049 c.995C>T c.(994-996)cCc>cTc p.P332L PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Missense_Mutation_p.P308L NM_001257096.1|NM_006192.4 NP_001244025.1|NP_006183.2 P15863 PAX1_HUMAN paired box 1 332 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 ACGGCCTTCCCCGCCACCCCC 0.602000 15 87 0 0 0.000308642 0 0 OSBPL11 114885 broad.mit.edu 37 3 125279359 125279359 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:125279359G>A ENST00000296220.5 - 8 1308 c.1019C>T c.(1018-1020)cCt>cTt p.P340L NM_022776.4 NP_073613.2 Q9BXB4 OSB11_HUMAN oxysterol binding protein-like 11 340 lipid transport lipid binding NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 27 TATTTCTTCAGGCTCCTTGAT 0.363000 8 142 0 0 0.000274275 0 0 LOC102724332 102724332 broad.mit.edu 37 2 89161452 89161452 + RNA SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:89161452C>T ENST00000430694.1 - 0 666 GAGAGCTCTCCATTGTCTTGC 0.498000 10 73 0 0 0.000219431 0 0 GRHL2 79977 broad.mit.edu 37 8 102570758 102570758 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:102570758G>A ENST00000251808.3 + 4 734 c.396G>A c.(394-396)gaG>gaA p.E132E GRHL2_ENST00000395927.1_Silent_p.E116E NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) 132 cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) ATCACCTGGAGAATTCCAAGC 0.507000 12 125 0 0 0.000151284 0 0 COL4A1 1282 broad.mit.edu 37 13 110850836 110850836 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr13:110850836G>A ENST00000375820.4 - 21 1384 c.1263C>T c.(1261-1263)ccC>ccT p.P421P COL4A1_ENST00000543140.1_Silent_p.P421P NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 421 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) GCTGCCCAGGGGGCCCAGGGG 0.592000 6 70 0 0 0.000157383 0 0 ZNF99 7652 broad.mit.edu 37 19 22952096 22952096 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:22952096C>T ENST00000397104.3 - 2 96 c.97G>A c.(97-99)Gaa>Aaa p.E33K ZNF99_ENST00000596209.1_Missense_Mutation_p.E12K zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) AGAGCGAATTCTATGGTCACA 0.403000 8 75 0 0 0.000673444 0 0 FAT3 120114 broad.mit.edu 37 11 92086880 92086880 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:92086880G>A ENST00000298047.6 + 1 1619 c.1602G>A c.(1600-1602)ctG>ctA p.L534L FAT3_ENST00000541502.1_Silent_p.L534L|FAT3_ENST00000409404.2_Silent_p.L534L|FAT3_ENST00000525166.1_Silent_p.L384L Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 534 Cadherin 5. 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) CTGAAGAACTGGATTTTGAAT 0.398000 TCGA Ovarian(4;0.039) 42 448 0 0 0.000589545 0 0 NLRP2 55655 broad.mit.edu 37 19 55493973 55493973 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:55493973G>A ENST00000543010.1 + 6 1050 c.907G>A c.(907-909)Gac>Aac p.D303N NLRP2_ENST00000263437.6_Missense_Mutation_p.D300N|NLRP2_ENST00000538819.1_Missense_Mutation_p.D279N|NLRP2_ENST00000537859.1_Missense_Mutation_p.D281N|NLRP2_ENST00000448584.2_Missense_Mutation_p.D303N|NLRP2_ENST00000427260.2_Missense_Mutation_p.D280N|NLRP2_ENST00000391721.4_Missense_Mutation_p.D279N|NLRP2_ENST00000339757.7_Missense_Mutation_p.D281N NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 303 NACHT. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GCTGATCGAGGACATCTGCGG 0.592000 10 70 0 0 0.000978159 0 0 NAALADL2 254827 broad.mit.edu 37 3 175184861 175184861 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:175184861C>T ENST00000454872.1 + 8 1550 c.1422C>T c.(1420-1422)atC>atT p.I474I NAALADL2_ENST00000473253.1_3'UTR NM_207015.2 NP_996898.2 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 2 474 proteolysis integral to membrane peptidase activity central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 49 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) CAGCGTTTATCCGTGCCTTGA 0.438000 47 148 0 0 0.000781405 0 0 TAOK2 9344 broad.mit.edu 37 16 29998717 29998717 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:29998717C>T ENST00000308893.4 + 16 4167 c.3124C>T c.(3124-3126)Ccc>Tcc p.P1042S TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_Missense_Mutation_p.P869S|TAOK2_ENST00000543033.1_Missense_Mutation_p.P929S NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 1042 Leu-rich. 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 p.P1042S(1) breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CATGGGTGTTCCCCTGGGCCT 0.687000 10 48 0 0 0.000673444 0 0 FPR2 2358 broad.mit.edu 37 19 52272426 52272426 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:52272426G>A ENST00000598776.1 + 2 1287 c.515G>A c.(514-516)gGg>gAg p.G172E FPR2_ENST00000340023.6_Missense_Mutation_p.G172E|FPR2_ENST00000598953.1_Missense_Mutation_p.G172E NM_001462.3 NP_001453.1 P25090 FPR2_HUMAN formyl peptide receptor 2 172 cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 ATTCCAAATGGGGACACATAC 0.502000 10 95 0 0 0.000673444 0 0 SAMD3 154075 broad.mit.edu 37 6 130465700 130465700 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:130465700C>T ENST00000368134.2 - 14 2136 c.1528G>A c.(1528-1530)Gaa>Aaa p.E510K SAMD3_ENST00000457563.2_Missense_Mutation_p.E534K|SAMD3_ENST00000439090.2_Missense_Mutation_p.E510K|SAMD3_ENST00000437477.2_Missense_Mutation_p.E510K NM_001258275.1 NP_001245204.1 Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 510 breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) ACTTCGTTTTCCTTTTCTTTC 0.373000 6 57 0 0 0.00116845 0 0 ECSCR 641700 broad.mit.edu 37 5 138837189 138837189 + Splice_Site SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:138837189C>T ENST00000515823.1 - 4 230 c.157_splice c.e4-1 p.G53_splice NM_001077693.2 NP_001071161.1 Q19T08 ECSCR_HUMAN endothelial cell surface expressed chemotaxis and apoptosis regulator 53 angiogenesis|cell differentiation|chemotaxis integral to membrane|plasma membrane AGGGATGTATCCTGCAAGGAC 0.577000 14 96 0 0 0.000422831 0 0 CXCR6 10663 broad.mit.edu 37 3 45988186 45988186 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:45988186G>A ENST00000458629.1 + 1 1676 c.213G>A c.(211-213)gtG>gtA p.V71V CXCR6_ENST00000457814.1_Silent_p.V71V|CXCR6_ENST00000438735.1_Silent_p.V71V|FYCO1_ENST00000438446.1_Intron|CXCR6_ENST00000304552.4_Silent_p.V71V|FYCO1_ENST00000535325.1_Intron|FYCO1_ENST00000296137.2_Intron O00574 CXCR6_HUMAN chemokine (C-X-C motif) receptor 6 71 viral genome replication integral to plasma membrane coreceptor activity central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) TGTTCCTGGTGAACCTACCCC 0.547000 31 126 0 0 0.000339439 0 0 NPR1 4881 broad.mit.edu 37 1 153657492 153657492 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:153657492G>A ENST00000368680.3 + 8 2009 c.1537G>A c.(1537-1539)Gag>Aag p.E513K NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 513 body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) GGTGCGCTGGGAGGACGTTGA 0.637000 15 80 0 0 0.000219431 0 0 IL36B 27177 broad.mit.edu 37 2 113783804 113783804 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:113783804C>T ENST00000259213.4 - 5 374 c.267G>A c.(265-267)caG>caA p.Q89Q NM_014438.3 NP_055253.2 Q9NZH7 IL36B_HUMAN interleukin 36, beta 89 immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 cttgggagccctgaagctgga 0.463000 5 41 0 0 0.00116845 0 0 MUC16 94025 broad.mit.edu 37 19 9066519 9066519 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:9066519G>A ENST00000397910.4 - 3 21130 c.20927C>T c.(20926-20928)cCc>cTc p.P6976L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6978 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 AGTACCAGTGGGGACTTCTGA 0.483000 26 108 0 0 0.000586117 0 0 BPI 671 broad.mit.edu 37 20 36938957 36938957 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:36938957G>A ENST00000262865.4 + 4 540 c.451G>A c.(451-453)Ggc>Agc p.G151S CTD-2308N23.2_ENST00000437016.1_RNA NM_001725.2 NP_001716.2 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 151 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) TCTGAAGCTGGGCAGTAACCC 0.512000 6 51 0 0 0.00116845 0 0 MYOCD 93649 broad.mit.edu 37 17 12656507 12656507 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:12656507C>T ENST00000425538.1 + 10 2102 c.1902C>T c.(1900-1902)tcC>tcT p.S634S MYOCD_ENST00000343344.4_Silent_p.S634S|MYOCD_ENST00000395988.1_Silent_p.S538S NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 634 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding p.S634S(2) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CCCAGTGTTCCCCTCAGCATT 0.547000 15 122 0 0 0.000422831 0 0 HUWE1 10075 broad.mit.edu 37 X 53674318 53674318 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:53674318G>A ENST00000342160.3 - 5 801 c.344C>T c.(343-345)tCc>tTc p.S115F HUWE1_ENST00000218328.8_Missense_Mutation_p.S115F|HUWE1_ENST00000262854.6_Missense_Mutation_p.S115F Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 115 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 TACCTCTATGGAACTGTACAG 0.428000 16 12 0 0 0.000566183 0 0 HNRNPCL1 343069 broad.mit.edu 37 1 12907694 12907694 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:12907694C>T ENST00000317869.6 - 2 674 c.449G>A c.(448-450)gGa>gAa p.G150E NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 TGAGGTGTTTCCTGATAGACG 0.493000 49 127 0 0 0.000781405 0 0 LRP2 4036 broad.mit.edu 37 2 170099976 170099976 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:170099976C>T ENST00000263816.3 - 23 3772 c.3487G>A c.(3487-3489)Gac>Aac p.D1163N LRP2_ENST00000443831.1_Missense_Mutation_p.D1026N NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 1163 LDL-receptor class A 11. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AACGATAGGTCAATACATCGA 0.393000 10 74 0 0 0.000978159 0 0 CACNA1F 778 broad.mit.edu 37 X 49062997 49062997 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:49062997C>T ENST00000376265.2 - 46 5541 c.5480G>A c.(5479-5481)cGa>cAa p.R1827Q CACNA1F_ENST00000376251.1_Missense_Mutation_p.R1762Q|CACNA1F_ENST00000323022.5_Missense_Mutation_p.R1816Q NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 1827 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) CCCTGAATTTCGCCCACGATG 0.602000 18 30 0 0 0.000175454 0 0 OR4C3 256144 broad.mit.edu 37 11 48347131 48347131 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:48347131C>T ENST00000319856.4 + 1 660 c.639C>T c.(637-639)gcC>gcT p.A213A NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 186 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 TGGAAGTTGCCTGCACCAATA 0.498000 6 53 0 0 0.000157383 0 0 MROH2B 133558 broad.mit.edu 37 5 41000375 41000375 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:41000375C>T ENST00000399564.4 - 39 4879 c.4429G>A c.(4429-4431)Gat>Aat p.D1477N MROH2B_ENST00000506092.2_Missense_Mutation_p.D1032N NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B AGATCCTGATCAAGGAGACGG 0.502000 12 55 0 0 0.00010058 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64589737 64589737 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:64589737C>T ENST00000498707.1 - 25 3950 c.3608G>A c.(3607-3609)cGg>cAg p.R1203Q ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1175Q NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 1203 TSP type-1 7. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) GTATCTCATCCGGGTACCTTT 0.512000 29 396 0 0 0.00127121 0 0 RAB19 401409 broad.mit.edu 37 7 140110840 140110840 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:140110840C>T ENST00000275874.5 + 3 467 c.269C>T c.(268-270)cCc>cTc p.P90L RAB19_ENST00000537763.1_Intron|RAB19_ENST00000356407.3_Intron A4D1S5 RAB19_HUMAN RAB19, member RAS oncogene family 67 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 9 Melanoma(164;0.0142) AAGATGAGCCCCCAAATCTGG 0.502000 14 118 0 0 0.000219431 0 0 SGMS1 259230 broad.mit.edu 37 10 52103748 52103748 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:52103748C>T ENST00000361781.2 - 7 1086 c.127G>A c.(127-129)Gat>Aat p.D43N SGMS1_ENST00000361543.2_Missense_Mutation_p.D43N|SGMS1_ENST00000429490.1_Intron NM_147156.3 NP_671512.1 Q86VZ5 SMS1_HUMAN sphingomyelin synthase 1 49 SAM. 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 TTTTTGAAATCCTCTTGGGTT 0.512000 18 73 0 0 0.000958276 0 0 OR13F1 138805 broad.mit.edu 37 9 107267323 107267323 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:107267323G>A ENST00000334726.2 + 1 869 c.780G>A c.(778-780)ctG>ctA p.L260L NM_001004485.1 NP_001004485.1 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, member 1 260 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 CCATGCACCTGAAGCCCTCCG 0.478000 5 75 0 0 0.00116845 0 0 GSTA2 2939 broad.mit.edu 37 6 52617667 52617667 + Silent SNP G G A rs142983962 TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:52617667G>A ENST00000493422.1 - 5 554 c.399C>T c.(397-399)ttC>ttT p.F133F NM_000846.4 NP_000837.3 P09210 GSTA2_HUMAN glutathione S-transferase alpha 2 133 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(77;0.118) Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163) CAAAGGCAGGGAAGTAGCGAT 0.443000 33 263 0 0 0.000680045 0 0 PCDHA10 56139 broad.mit.edu 37 5 140236523 140236523 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:140236523G>A ENST00000307360.5 + 1 890 c.890G>A c.(889-891)aGg>aAg p.R297K PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R297K|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATAAACGAAAGGACGGGAGAA 0.368000 12 49 0 0 0.000151284 0 0 TTN 7273 broad.mit.edu 37 2 179440844 179440844 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:179440844C>T ENST00000589042.1 - 326 70239 c.70015G>A c.(70015-70017)Gag>Aag p.E23339K TTN_ENST00000359218.5_Missense_Mutation_p.E14399K|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E20771K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E14466K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E14274K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E21698K|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 21698 Fibronectin type-III 69. 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) GGAGCCATCTCCCGTTCTACG 0.443000 10 70 0 0 0.000442599 0 0 FBXL20 84961 broad.mit.edu 37 17 37439089 37439089 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:37439089C>T ENST00000264658.6 - 8 774 c.514G>A c.(514-516)Gag>Aag p.E172K FBXL20_ENST00000583610.1_Missense_Mutation_p.E172K|FBXL20_ENST00000577399.1_Missense_Mutation_p.E174K|FBXL20_ENST00000394294.3_Missense_Mutation_p.E140K NM_032875.2 NP_116264.2 Q96IG2 FXL20_HUMAN F-box and leucine-rich repeat protein 20 172 cytoplasm breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 LUAD - Lung adenocarcinoma(14;0.146) TTCAACTGCTCCAACAGTGGA 0.413000 11 106 0 0 0.00010058 0 0 C8A 731 broad.mit.edu 37 1 57347218 57347218 + Nonsense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:57347218C>T ENST00000361249.3 + 5 661 c.565C>T c.(565-567)Cga>Tga p.R189* NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 189 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 GAGGGAGCTTCGATATGACTC 0.453000 16 40 0 0 0.000566183 0 0 CXCR1 3577 broad.mit.edu 37 2 219029128 219029128 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:219029128C>T ENST00000295683.2 - 2 927 c.807G>A c.(805-807)agG>agA p.R269R NM_000634.2 NP_000625.1 P25024 CXCR1_HUMAN chemokine (C-X-C motif) receptor 1 269 dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(3) 13 TCACCTGGGTCCTCATGAGGG 0.587000 5 94 0 0 0.000602214 0 0 CDH6 1004 broad.mit.edu 37 5 31317869 31317869 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:31317869G>A ENST00000265071.2 + 11 1985 c.1720G>A c.(1720-1722)Gac>Aac p.D574N CDH6_ENST00000514738.1_Missense_Mutation_p.D519N NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 574 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TTCAGACAACGACTACCCAGT 0.527000 6 35 0 0 0.00116845 0 0 SPRR2A 6700 broad.mit.edu 37 1 153029007 153029007 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:153029007G>A ENST00000392653.2 - 2 290 c.205C>T c.(205-207)Ccg>Tcg p.P69S NM_005988.2 NP_005979.1 P35326 SPR2A_HUMAN small proline-rich protein 2A 69 keratinization cornified envelope|cytoplasm binding large_intestine(2)|ovary(1) 3 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TTGCTCTTCGGTGGATACTTT 0.512000 24 204 0 0 0.000586117 0 0 RNF17 56163 broad.mit.edu 37 13 25338447 25338447 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr13:25338447G>A ENST00000255324.5 + 1 158 c.106G>A c.(106-108)Gga>Aga p.G36R RNF17_ENST00000381921.1_Missense_Mutation_p.G36R|RNF17_ENST00000255325.5_Missense_Mutation_p.G36R|RNF17_ENST00000255326.4_3'UTR NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 36 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) CACCAGGTGTGGAAGGAGGGT 0.652000 6 21 0 0 0.00116845 0 0 UNC13A 23025 broad.mit.edu 37 19 17735706 17735706 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:17735706C>T ENST00000428389.2 - 36 4392 c.4393G>A c.(4393-4395)Gag>Aag p.E1465K UNC13A_ENST00000552293.1_Missense_Mutation_p.E1377K|UNC13A_ENST00000252773.7_Missense_Mutation_p.E1377K|UNC13A_ENST00000551649.1_Missense_Mutation_p.E1377K|UNC13A_ENST00000519716.2_Missense_Mutation_p.E1377K|UNC13A_ENST00000550896.1_Missense_Mutation_p.E1375K Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 1377 MHD2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 TTCCACAGCTCCTTCAGCACT 0.602000 14 43 0 0 0.000308642 0 0 MTMR7 9108 broad.mit.edu 37 8 17163275 17163275 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:17163275C>T ENST00000180173.5 - 11 1377 c.1343G>A c.(1342-1344)cGa>cAa p.R448Q MTMR7_ENST00000521857.1_Missense_Mutation_p.R448Q|MTMR7_ENST00000398099.3_Missense_Mutation_p.R39Q NM_004686.4 NP_004677.3 Q9Y216 MTMR7_HUMAN myotubularin related protein 7 448 Myotubularin phosphatase. protein tyrosine phosphatase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 32 Colorectal(111;0.112) CTTGAGTTCTCGTCTCTCCTT 0.343000 7 35 0 0 0.000157383 0 0 PRDM9 56979 broad.mit.edu 37 5 23523411 23523411 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:23523411G>A ENST00000296682.3 + 9 1076 c.894G>A c.(892-894)ggG>ggA p.G298G NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 298 SET. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 TCACCAAGGGGAGAAACTGCT 0.438000 HNSCC(3;0.000094) 15 95 0 0 0.000566183 0 0 SSX3 10214 broad.mit.edu 37 X 48214653 48214653 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:48214653G>A ENST00000298396.2 - 2 84 c.32C>T c.(31-33)cCc>cTc p.P11L SSX3_ENST00000376893.3_Missense_Mutation_p.P11L NM_021014.2 NP_066294.1 Q99909 SSX3_HUMAN synovial sarcoma, X breakpoint 3 11 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|large_intestine(1)|lung(9) 13 ACCAACCGTGGGTCTCCTTGC 0.527000 28 79 0 0 0.000814825 0 0 SCN11A 11280 broad.mit.edu 37 3 38945362 38945362 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:38945362C>T ENST00000450244.1 - 12 2034 c.1836G>A c.(1834-1836)ggG>ggA p.G612G SCN11A_ENST00000302328.3_Silent_p.G612G|SCN11A_ENST00000456224.3_Silent_p.G612G|SCN11A_ENST00000444237.2_Silent_p.G612G Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 612 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TTACCAAATTCCCTATATTCA 0.343000 8 41 0 0 0.000274275 0 0 ZNF536 9745 broad.mit.edu 37 19 31039268 31039268 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:31039268C>T ENST00000355537.3 + 4 2889 c.2742C>T c.(2740-2742)ttC>ttT p.F914F NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 914 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.F914F(1) NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GTGTGAATTTCCAAGGGTCCT 0.493000 28 217 0 0 0.000227799 0 0 CHD5 26038 broad.mit.edu 37 1 6206398 6206398 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:6206398C>T ENST00000262450.3 - 11 1775 c.1676G>A c.(1675-1677)gGg>gAg p.G559E CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 559 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) GTCTTCATCCCCAGAGCCGTA 0.557000 20 59 0 0 0.000295444 0 0 BMPER 168667 broad.mit.edu 37 7 34091556 34091556 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:34091556G>A ENST00000297161.2 + 9 1134 c.760G>A c.(760-762)Gat>Aat p.D254N BMPER_ENST00000426693.1_Missense_Mutation_p.D254N|BMPER_ENST00000494786.1_3'UTR NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 254 VWFC 4. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 ATTTCTGTACGATAACTGCAC 0.473000 11 101 0 0 0.00010058 0 0 KATNB1 10300 broad.mit.edu 37 16 57785579 57785579 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:57785579C>T ENST00000379661.3 + 7 851 c.459C>T c.(457-459)ctC>ctT p.L153L NM_005886.2 NP_005877.2 Q9BVA0 KTNB1_HUMAN katanin p80 (WD repeat containing) subunit B 1 153 Interaction with centrosomes.|Interaction with dynein (By similarity). cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting katanin complex|microtubule|spindle pole microtubule binding|protein heterodimerization activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_neural(199;0.223) TGCGGTGTCTCCGGTTCAGCC 0.687000 12 77 0 0 0.000151284 0 0 KRTAP6-3 337968 broad.mit.edu 37 21 31964811 31964811 + Missense_Mutation SNP A A G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr21:31964811A>G ENST00000391624.1 + 1 53 c.26A>G c.(25-27)tAc>tGc p.Y9C NM_181605.3 NP_853636.3 keratin associated protein 6-3 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7) 10 TACAGAAACTACAATGGTGGC 0.562000 5 54 0 0 0.00116845 0 0 RLN3 117579 broad.mit.edu 37 19 14139177 14139177 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:14139177G>A ENST00000431365.2 + 1 218 c.161G>A c.(160-162)cGa>cAa p.R54Q RLN3_ENST00000585987.1_Missense_Mutation_p.R54Q NM_080864.2 NP_543140.1 Q8WXF3 REL3_HUMAN relaxin 3 54 extracellular region hormone activity endometrium(1)|lung(4) 5 CGGTGGAGACGATCAGACATC 0.637000 10 68 0 0 0.000442599 0 0 IGHV3OR16-9 28307 broad.mit.edu 37 16 32077676 32077676 + RNA SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:32077676G>A ENST00000354689.6 + 0 291 RP11-1166P10.6_ENST00000566806.1_RNA ATTACTGTGTGAAACACAGAG 0.562000 11 454 0 0 0.000673444 0 0 NOD2 64127 broad.mit.edu 37 16 50733428 50733428 + Nonsense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:50733428C>T ENST00000300589.2 + 2 208 c.103C>T c.(103-105)Cag>Tag p.Q35* NOD2_ENST00000526417.2_3'UTR NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 35 CARD 1. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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 cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) GGAGGCTTTTCAGGCACAGAG 0.612000 19 228 0 0 0.000375601 0 0 NYAP2 57624 broad.mit.edu 37 2 226447182 226447182 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:226447182C>T ENST00000272907.6 + 4 1462 c.1049C>T c.(1048-1050)tCc>tTc p.S350F NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 350 Pro-rich. TCCCCCAACTCCGACGAGTCC 0.642000 4 24 0 0 0.00024832 0 0 C10orf68 79741 broad.mit.edu 37 10 33134500 33134500 + Missense_Mutation SNP A A G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:33134500A>G ENST00000375030.2 + 16 1690 c.1072A>G c.(1072-1074)Act>Gct p.T358A C10orf68_ENST00000375025.4_Missense_Mutation_p.T463A|C10orf68_ENST00000375028.3_Missense_Mutation_p.T403A Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 399 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4) 29 TGCCTATGCTACTGGAAGAGG 0.308000 11 97 0 0 0.000978159 0 0 WDR12 55759 broad.mit.edu 37 2 203748933 203748933 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:203748933G>A ENST00000261015.3 - 10 1725 c.976C>T c.(976-978)Ccc>Tcc p.P326S NM_018256.3 NP_060726.3 Q9GZL7 WDR12_HUMAN WD repeat domain 12 326 Sufficient for nucleolar localization. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1) 13 TTAGTTCGGGGATCCCACAGT 0.373000 52 408 0 0 0.000781405 0 0 OR2A25 392138 broad.mit.edu 37 7 143771361 143771361 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:143771361C>T ENST00000408898.2 + 1 87 c.49C>T c.(49-51)Ccc>Tcc p.P17S NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 17 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) ACTGGGATTTCCCATTGGCCC 0.488000 10 87 0 0 0.000673444 0 0 PEX5L 51555 broad.mit.edu 37 3 179593220 179593220 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:179593220C>T ENST00000467460.1 - 6 881 c.551G>A c.(550-552)gGa>gAa p.G184E PEX5L_ENST00000464614.1_Missense_Mutation_p.G76E|PEX5L_ENST00000392649.3_Missense_Mutation_p.G76E|PEX5L_ENST00000485199.1_Missense_Mutation_p.G149E|PEX5L_ENST00000476138.1_Missense_Mutation_p.G141E|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000472994.1_Missense_Mutation_p.G125E|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.G160E|PEX5L_ENST00000263962.8_Missense_Mutation_p.G182E 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 11 63 0 0 0.000978159 0 0 AGBL1 123624 broad.mit.edu 37 15 86808051 86808051 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:86808051G>A ENST00000441037.2 + 10 1606 c.1511G>A c.(1510-1512)cGa>cAa p.R504Q AGBL1_ENST00000421325.2_Missense_Mutation_p.R504Q|AGBL1_ENST00000389298.3_Missense_Mutation_p.R235Q NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 504 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 ATGTTGGAACGAAAATGTGGA 0.443000 11 48 0 0 0.00010058 0 0 GABRB3 2562 broad.mit.edu 37 15 26806161 26806161 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:26806161C>T ENST00000541819.2 - 9 1268 c.1166G>A c.(1165-1167)gGa>gAa p.G389E GABRB3_ENST00000400188.3_Missense_Mutation_p.G262E|GABRB3_ENST00000545868.1_Missense_Mutation_p.G248E|GABRB3_ENST00000311550.5_Missense_Mutation_p.G333E|GABRB3_ENST00000299267.4_Missense_Mutation_p.G333E P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 333 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) AGGGCCTCTTCCAAAGAAAAT 0.488000 9 73 0 0 0.000274275 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12854553 12854553 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:12854553C>T ENST00000332296.7 + 3 880 c.777C>T c.(775-777)ttC>ttT p.F259F NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 259 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) TTGCCAAATTCAGCTCTGTGT 0.448000 51 194 0 0 0.000781405 0 0 MEP1B 4225 broad.mit.edu 37 18 29790487 29790487 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr18:29790487G>A ENST00000269202.6 + 10 990 c.943G>A c.(943-945)Gat>Aat p.D315N MEP1B_ENST00000581447.1_Missense_Mutation_p.D315N NM_005925.2 NP_005916.2 Q16820 MEP1B_HUMAN meprin A, beta 315 MAM. digestion|proteolysis extracellular space|integral to plasma membrane metalloendopeptidase activity|zinc ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 CATGCATTTCGATAGCAGCTC 0.408000 6 40 0 0 0.00116845 0 0 PDCD11 22984 broad.mit.edu 37 10 105181256 105181256 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:105181256C>T ENST00000369797.3 + 17 2523 c.2429C>T c.(2428-2430)aCc>aTc p.T810I NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 810 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) TTGGCTATCACCAGCCTCCTC 0.632000 4 18 0 0 0.000602214 0 0 POF1B 79983 broad.mit.edu 37 X 84614582 84614582 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:84614582C>T ENST00000262753.4 - 4 556 c.411G>A c.(409-411)agG>agA p.R137R POF1B_ENST00000373145.3_Silent_p.R137R NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 137 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 CTACATATTTCCTAATAGTGG 0.308000 6 17 0 0 0.000157383 0 0 DNHD1 144132 broad.mit.edu 37 11 6519580 6519580 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:6519580C>T ENST00000254579.6 + 3 699 c.135C>T c.(133-135)ttC>ttT p.F45F DNHD1_ENST00000527990.2_Silent_p.F45F|DNHD1_ENST00000477562.1_3'UTR|DNHD1_ENST00000354685.3_Silent_p.F45F NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 45 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) AGAGGCAGTTCGTGAAGCCAG 0.532000 24 168 0 0 0.00106085 0 0 OR10X1 128367 broad.mit.edu 37 1 158548961 158548961 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:158548961C>T ENST00000368150.1 - 1 728 c.729G>A c.(727-729)agG>agA p.R243R NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) CTGAAGGGATCCTGAGGACAG 0.453000 31 94 0 0 0.00058488 0 0 DNAH2 146754 broad.mit.edu 37 17 7673685 7673685 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:7673685G>A ENST00000572933.1 + 25 5517 c.4057G>A c.(4057-4059)Gag>Aag p.E1353K DNAH2_ENST00000389173.2_Missense_Mutation_p.E1353K Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1353 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) GAAAATTGGGGAGATCTCTGC 0.542000 7 52 0 0 0.000442599 0 0 PIRT 644139 broad.mit.edu 37 17 10728815 10728815 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:10728815C>T ENST00000580256.1 - 2 786 c.148G>A c.(148-150)Gaa>Aaa p.E50K NM_001101387.1 NP_001094857.1 P0C851 PIRT_HUMAN phosphoinositide-interacting regulator of transient receptor potential channels 50 integral to membrane endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1) 8 CGGTAGATTTCCCAGTTACTC 0.592000 5 23 0 0 0.000602214 0 0 SLC22A14 9389 broad.mit.edu 37 3 38354523 38354523 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:38354523G>A ENST00000273173.4 + 5 1069 c.978G>A c.(976-978)atG>atA p.M326I SLC22A14_ENST00000448498.1_Missense_Mutation_p.M326I NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 326 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) GGCTGATGATGAAAGGGAAGG 0.577000 4 15 0 0 0.00024832 0 0 PRKCQ 5588 broad.mit.edu 37 10 6520992 6520992 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:6520992G>A ENST00000263125.5 - 12 1414 c.1315C>T c.(1315-1317)Ccg>Tcg p.P439S PRKCQ_ENST00000539722.1_Missense_Mutation_p.P314S|PRKCQ_ENST00000397176.2_Missense_Mutation_p.P439S NM_006257.3 NP_006248.1 Q04759 KPCT_HUMAN protein kinase C, theta 439 Protein kinase. 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 GTCAGAAACGGATGCTCCCAG 0.473000 7 58 0 0 8.12818e-05 0 0 SIGLECL1 284369 broad.mit.edu 37 19 51768682 51768682 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:51768682C>T ENST00000316401.7 + 3 464 c.83C>T c.(82-84)tCc>tTc p.S28F SIGLECL1_ENST00000597824.1_Intron|CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000593968.1_Intron NM_173635.1 NP_775906.1 SIGLEC family like 1 TGCAGCTGTTCCTTCCATGGG 0.582000 9 86 0 0 0.000673444 0 0 TBX18 9096 broad.mit.edu 37 6 85466495 85466495 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:85466495G>A ENST00000369663.5 - 4 1029 c.692C>T c.(691-693)tCg>tTg p.S231L TBX18_ENST00000606784.1_Missense_Mutation_p.S73L|TBX18_ENST00000606521.1_5'UTR NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 231 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) AGTCTCCCCCGAGGCAGGCGA 0.512000 7 60 0 0 8.12818e-05 0 0 RGS5 8490 broad.mit.edu 37 1 163131767 163131767 + Splice_Site SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:163131767C>T ENST00000313961.5 - 3 433 c.e3-1 RGS5_ENST00000534288.1_Splice_Site|RGS5_ENST00000530507.1_Splice_Site|RP11-267N12.1_ENST00000415437.1_RNA|RGS5_ENST00000527988.1_Intron|RGS5_ENST00000367903.3_Splice_Site NM_001254749.1|NM_003617.3 NP_001241678.1|NP_003608.1 O15539 RGS5_HUMAN regulator of G-protein signaling 5 negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|plasma membrane GTPase activator activity|signal transducer activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 LUSC - Lung squamous cell carcinoma(543;0.187) CAGCGAGGTTCTACATCAATA 0.423000 5 68 0 0 0.00116845 0 0 MYH2 4620 broad.mit.edu 37 17 10433391 10433391 + Splice_Site SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:10433391C>T ENST00000245503.5 - 23 3082 c.2697_splice c.e23-1 p.E900_splice CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Splice_Site_p.E900_splice|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 900 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CCTTCGGCTTCCTTAAGTTGG 0.388000 7 121 0 0 0.000274275 0 0 PARM1 25849 broad.mit.edu 37 4 75938084 75938084 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:75938084C>T ENST00000307428.7 + 2 705 c.493C>T c.(493-495)Cca>Tca p.P165S RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron NM_015393.3 NP_056208.2 Q6UWI2 PARM1_HUMAN prostate androgen-regulated mucin-like protein 1 165 positive regulation of telomerase activity early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane cervix(1)|endometrium(2)|lung(4)|ovary(1) 8 ATCAACCTCACCACCTGAGGT 0.587000 19 246 0 0 0.000375601 0 0 WDR47 22911 broad.mit.edu 37 1 109556543 109556543 + Missense_Mutation SNP G G A rs140178030 byFrequency TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:109556543G>A ENST00000357672.3 - 3 538 c.163C>T c.(163-165)Cgt>Tgt p.R55C WDR47_ENST00000400794.3_Missense_Mutation_p.R83C|WDR47_ENST00000369962.3_Missense_Mutation_p.R83C|WDR47_ENST00000361054.3_Missense_Mutation_p.R55C|WDR47_ENST00000369965.4_Missense_Mutation_p.R83C O94967 WDR47_HUMAN WD repeat domain 47 83 CTLH. breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) ATAATATAACGAAACCTGTGG 0.323000 78 250 0 0 0.000781405 0 0 GRIN3A 116443 broad.mit.edu 37 9 104499593 104499593 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:104499593G>A ENST00000361820.3 - 1 1269 c.669C>T c.(667-669)atC>atT p.I223I NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 223 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) CGTGGCGCACGATGCTGATCA 0.632000 5 43 0 0 8.12818e-05 0 0 OR5R1 219479 broad.mit.edu 37 11 56185662 56185662 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:56185662C>T ENST00000312253.1 - 1 46 c.47G>A c.(46-48)gGa>gAa p.G16E NM_001004744.1 NP_001004744.1 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, member 1 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) GTTGGTAATTCCTTTCAGAAT 0.383000 11 77 0 0 0.000673444 0 0 BAIAP2L2 80115 broad.mit.edu 37 22 38494424 38494424 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr22:38494424G>A ENST00000381669.3 - 5 486 c.342C>T c.(340-342)ttC>ttT p.F114F BAIAP2L2_ENST00000332536.5_Silent_p.F114F NM_025045.4 NP_079321.3 Q6UXY1 BI2L2_HUMAN BAI1-associated protein 2-like 2 114 IMD. filopodium assembly|signal transduction cytoskeletal adaptor activity|SH3 domain binding large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 8 Melanoma(58;0.045) TCACTTTGATGAACTGCATGT 0.597000 OREG0026556 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 67 0 0 0.000308642 0 0 IFT122 55764 broad.mit.edu 37 3 129207226 129207226 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:129207226G>A ENST00000296266.3 + 17 2323 c.2131G>A c.(2131-2133)Gaa>Aaa p.E711K IFT122_ENST00000347300.2_Missense_Mutation_p.E601K|IFT122_ENST00000507564.1_Missense_Mutation_p.E652K|IFT122_ENST00000504021.1_Missense_Mutation_p.E554K|IFT122_ENST00000431818.2_Missense_Mutation_p.E510K|IFT122_ENST00000440957.2_Missense_Mutation_p.E451K|IFT122_ENST00000349441.2_Missense_Mutation_p.E549K|IFT122_ENST00000348417.2_Missense_Mutation_p.E660K NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 660 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 TTTAGATTTTGAAACAGCAAA 0.517000 16 55 0 0 0.000566183 0 0 BPIFB2 80341 broad.mit.edu 37 20 31607505 31607505 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:31607505C>T ENST00000170150.3 + 11 1224 c.1029C>T c.(1027-1029)gtC>gtT p.V343V NM_025227.1 NP_079503.1 Q8N4F0 BPIL1_HUMAN BPI fold containing family B, member 2 343 extracellular region lipid binding TCGTGGAGGTCCTGGCCACAG 0.637000 6 32 0 0 0.00116845 0 0 CEACAM8 1088 broad.mit.edu 37 19 43093613 43093613 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:43093613G>A ENST00000244336.5 - 3 800 c.699C>T c.(697-699)gtC>gtT p.V233V CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA NM_001816.3 NP_001807.2 P31997 CEAM8_HUMAN carcinoembryonic antigen-related cell adhesion molecule 8 233 immune response anchored to membrane|extracellular space|integral to plasma membrane endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 16 Prostate(69;0.00899) ACTCACAGAGGACATTCAGGG 0.527000 12 111 0 0 0.000219431 0 0 OR8B8 26493 broad.mit.edu 37 11 124310318 124310318 + Missense_Mutation SNP G G A rs1893135 byFrequency TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:124310318G>A ENST00000328064.2 - 1 736 c.664C>T c.(664-666)Ctc>Ttc p.L222F NM_012378.1 NP_036510.1 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, member 8 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 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) ATGCTGGAGAGAATGAGAGCA 0.483000 13 141 0 0 0.000151284 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45567330 45567330 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr18:45567330G>A ENST00000588982.1 - 3 650 c.149C>T c.(148-150)tCc>tTc p.S50F ZBTB7C_ENST00000586438.1_Missense_Mutation_p.S50F|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.S50F|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.S50F|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.S50F A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 50 BTB. 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 AGCCAGGACGGAGCGGTGGGT 0.597000 5 65 0 0 8.12818e-05 0 0 LRIT1 26103 broad.mit.edu 37 10 85993963 85993963 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:85993963G>A ENST00000372105.3 - 3 782 c.761C>T c.(760-762)cCa>cTa p.P254L NM_015613.2 NP_056428.1 Q9P2V4 LRIT1_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 254 integral to endoplasmic reticulum membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1) 23 ATGGAGCTCTGGGCCCTGGCA 0.607000 21 76 0 0 0.000375601 0 0 GLTSCR1L 23506 broad.mit.edu 37 6 42830320 42830320 + Silent SNP C C A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:42830320C>A ENST00000314073.5 + 12 2598 c.2422C>A c.(2422-2424)Cga>Aga p.R808R GLTSCR1L_ENST00000394168.1_Silent_p.R808R GLTSCR1-like p.R808R(2) TTCCCTGTCCCGAGACAAGCG 0.507000 6 186 0.00116845 0.00960186 0.00116845 1 0 ODF4 146852 broad.mit.edu 37 17 8243450 8243450 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:8243450G>A ENST00000328248.2 + 1 269 c.81G>A c.(79-81)agG>agA p.R27R ODF4_ENST00000584943.1_Silent_p.R27R NM_153007.4 NP_694552.2 Q2M2E3 ODFP4_HUMAN outer dense fiber of sperm tails 4 27 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1) 8 GAAAGGAAAGGAAGAGTGGGG 0.557000 10 57 0 0 0.000978159 0 0 FGD2 221472 broad.mit.edu 37 6 36978769 36978769 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:36978769C>T ENST00000274963.8 + 3 492 c.321C>T c.(319-321)gtC>gtT p.V107V NM_173558.3 NP_775829.2 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 107 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 AGAAGATCGTCCAGGAGCTGC 0.612000 5 65 0 0 0.00116845 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946407 16946407 + RNA SNP T T G rs10796418 by1000genomes TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:16946407T>G ENST00000412962.1 - 0 1112 AGCAATCTCCTCACTCAGCTG 0.672000 6 34 0 0 8.12818e-05 0 0 TCEB3B 51224 broad.mit.edu 37 18 44559889 44559889 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr18:44559889C>T ENST00000332567.4 - 1 2099 c.1747G>A c.(1747-1749)Gaa>Aaa p.E583K KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 583 Activation domain (By similarity). regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CTCCGTAATTCGTCTGTCTCT 0.517000 6 72 0 0 0.00116845 0 0 SCUBE2 57758 broad.mit.edu 37 11 9055212 9055212 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:9055212G>A ENST00000457346.2 - 17 2208 c.2134C>T c.(2134-2136)Ctg>Ttg p.L712L RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Intron|SCUBE2_ENST00000450649.2_Silent_p.L557L|SCUBE2_ENST00000309263.3_Silent_p.L683L Q9NQ36 SCUB2_HUMAN signal peptide, CUB domain, EGF-like 2 683 H -> Q (in dbSNP:rs7395988). extracellular region calcium ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) GGGGTCTTCAGGGCCCCAGAA 0.463000 25 181 0 0 0.00127121 0 0 HRASLS 57110 broad.mit.edu 37 3 192988399 192988399 + Nonsense_Mutation SNP C C T rs151296838 by1000genomes TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:192988399C>T ENST00000264735.2 + 4 821 c.727C>T c.(727-729)Cga>Tga p.R243* HRASLS_ENST00000602513.1_Nonsense_Mutation_p.R138* NM_020386.4 NP_065119.2 Q9HDD0 HRSL1_HUMAN HRAS-like suppressor 138 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) ATAGGCCAACCGAGCGATAAG 0.383000 5 64 0 0 0.000602214 0 0 LRP2 4036 broad.mit.edu 37 2 170097742 170097742 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:170097742G>A ENST00000263816.3 - 25 4086 c.3801C>T c.(3799-3801)gtC>gtT p.V1267V LRP2_ENST00000443831.1_Silent_p.V1130V NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 1267 LDL-receptor class A 13. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AAGTCTTGGGGACACAGGCAT 0.502000 19 90 0 0 0.000175454 0 0 PCLO 27445 broad.mit.edu 37 7 82581593 82581593 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:82581593G>A ENST00000423517.2 - 5 9013 c.8676C>T c.(8674-8676)atC>atT p.I2892I PCLO_ENST00000333891.8_Silent_p.I2892I NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2823 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 CCCCATCAGTGATTCCCTGGG 0.453000 6 105 0 0 0.00116845 0 0 IGSF1 3547 broad.mit.edu 37 X 130413158 130413158 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:130413158G>A ENST00000370903.3 - 11 2006 c.1724C>T c.(1723-1725)tCt>tTt p.S575F IGSF1_ENST00000370904.1_Intron|IGSF1_ENST00000370910.1_Intron|IGSF1_ENST00000361420.3_Intron NM_001170961.1|NM_001555.4 NP_001164432.1|NP_001546.2 Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 572 regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding p.?(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 TCCTGCAAAAGAAATTGCTGC 0.572000 27 46 0 0 0.000586117 0 0 SLC30A3 7781 broad.mit.edu 37 2 27480115 27480115 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:27480115C>T ENST00000233535.4 - 5 1036 c.684G>A c.(682-684)ggG>ggA p.G228G SLC30A3_ENST00000447008.2_Silent_p.G223G NM_003459.4 NP_003450.2 Q99726 ZNT3_HUMAN solute carrier family 30 (zinc transporter), member 3 228 regulation of sequestering of zinc ion cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane zinc transporting ATPase activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGCTGGTGTTCCCCAGGGGCA 0.647000 7 23 0 0 0.000157383 0 0 STK36 27148 broad.mit.edu 37 2 219563577 219563577 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:219563577C>T ENST00000295709.3 + 26 3589 c.3310C>T c.(3310-3312)Ctg>Ttg p.L1104L STK36_ENST00000392106.2_Silent_p.L1083L|STK36_ENST00000392105.3_Silent_p.L1083L|STK36_ENST00000440309.1_Silent_p.L1104L NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 1104 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) CCAAGAGCTTCTGGCTGGCTC 0.587000 10 67 0 0 0.000673444 0 0 TMEM132D 121256 broad.mit.edu 37 12 129558632 129558632 + Nonsense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:129558632G>A ENST00000422113.2 - 9 3414 c.3088C>T c.(3088-3090)Cag>Tag p.Q1030* TMEM132D_ENST00000389441.4_Nonsense_Mutation_p.Q568* NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 1030 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) TCACTTTTCTGATCTTTCCCA 0.468000 6 76 0 0 8.12818e-05 0 0 SERPINA7 6906 broad.mit.edu 37 X 105280882 105280882 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:105280882C>T ENST00000327674.4 - 1 503 c.168G>A c.(166-168)agG>agA p.R56R SERPINA7_ENST00000372563.1_Silent_p.R56R P05543 THBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 56 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3) 24 Levothyroxine(DB00451)|Liothyronine(DB00279) CCACAGTGAACCTCCGGTACA 0.473000 9 28 0 0 0.000442599 0 0 HS3ST1 9957 broad.mit.edu 37 4 11401359 11401359 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:11401359C>T ENST00000002596.5 - 2 1445 c.271G>A c.(271-273)Gac>Aac p.D91N NM_005114.2 NP_005105.1 O14792 HS3S1_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 1 91 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3) 15 TCCTCCCAGTCGAAGAAGTGG 0.642000 11 99 0 0 0.00010058 0 0 SERPINI2 5276 broad.mit.edu 37 3 167183029 167183029 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:167183029C>T ENST00000476257.1 - 6 1129 c.831G>A c.(829-831)gaG>gaA p.E277E SERPINI2_ENST00000461846.1_Silent_p.E277E|SERPINI2_ENST00000264677.4_Silent_p.E277E|SERPINI2_ENST00000471111.1_Silent_p.E277E O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), member 2 277 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 CTTCTTGCATCTCAGAGAGCC 0.358000 28 105 0 0 0.00127121 0 0 CLN5 1203 broad.mit.edu 37 13 77570195 77570195 + Missense_Mutation SNP T T A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr13:77570195T>A ENST00000377453.3 + 3 1937 c.645T>A c.(643-645)ttT>ttA p.F215L CLN5_ENST00000485938.1_3'UTR NM_006493.2 NP_006484.1 O75503 CLN5_HUMAN ceroid-lipofuscinosis, neuronal 5 166 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) CTGCCTGCTTTTTTGAGGGAA 0.403000 13 124 0 0 0.000422831 0 0 RFWD2 64326 broad.mit.edu 37 1 176015319 176015319 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:176015319G>A ENST00000367669.3 - 12 1933 c.1419C>T c.(1417-1419)atC>atT p.I473I RFWD2_ENST00000308769.8_Silent_p.I449I NM_022457.5 NP_071902.2 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2, E3 ubiquitin protein ligase 473 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 GTAAATACCTGATTTTCGAAT 0.318000 12 107 0 0 0.00010058 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43777753 43777753 + Nonsense_Mutation SNP G G A rs144064003 byFrequency TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:43777753G>A ENST00000389420.3 - 30 4479 c.4480C>T c.(4480-4482)Cag>Tag p.Q1494* NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1494 TSP type-1 12. 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) TCCCTCTGCTGAACTCCAGAG 0.448000 4 22 0 0 0.000602214 0 0 XKR3 150165 broad.mit.edu 37 22 17288683 17288683 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr22:17288683C>T ENST00000331428.5 - 2 383 c.281G>A c.(280-282)aGa>aAa p.R94K NM_175878.3 NP_787074.2 Q5GH77 XKR3_HUMAN XK, Kell blood group complex subunit-related family, member 3 94 integral to membrane|plasma membrane p.R94I(1) central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 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) AGCCTTATTTCTCCTCAAGTC 0.358000 7 76 0 0 0.000274275 0 0 C11orf63 79864 broad.mit.edu 37 11 122774767 122774767 + Missense_Mutation SNP T T C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:122774767T>C ENST00000227349.2 + 3 776 c.479T>C c.(478-480)tTg>tCg p.L160S C11orf63_ENST00000531316.1_Missense_Mutation_p.L160S|C11orf63_ENST00000307257.6_Missense_Mutation_p.L160S NM_024806.2 NP_079082.2 Q6NUN7 CK063_HUMAN chromosome 11 open reading frame 63 160 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 47 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) AATCTGCCTTTGGCTCCCCTC 0.542000 13 93 0 0 0.000151284 0 0 MMP25 64386 broad.mit.edu 37 16 3100328 3100328 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:3100328G>A ENST00000336577.4 + 4 679 c.442G>A c.(442-444)Gcc>Acc p.A148T MMP25_ENST00000570755.1_3'UTR NM_022468.4 NP_071913.1 Q9NPA2 MMP25_HUMAN matrix metallopeptidase 25 148 inflammatory response|proteolysis anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 14 TGCCCTGATGGCCTGGGGCAT 0.632000 10 57 0 0 0.000442599 0 0 CCDC129 223075 broad.mit.edu 37 7 31692414 31692414 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:31692414G>A ENST00000319386.3 + 14 3655 c.2662G>A c.(2662-2664)Gga>Aga p.G888R CCDC129_ENST00000409210.1_Missense_Mutation_p.G944R|CCDC129_ENST00000407970.3_Missense_Mutation_p.G1036R|CCDC129_ENST00000451887.2_Intron Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 1036 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 TTGTCCTGTTGGAGAAAAGGA 0.443000 14 93 0 0 0.000566183 0 0 MUC17 140453 broad.mit.edu 37 7 100685859 100685859 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:100685859C>T ENST00000306151.4 + 3 11226 c.11162C>T c.(11161-11163)aCc>aTc p.T3721I NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3721 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TCTGTTGTCACCAGCACACCT 0.498000 24 133 0 0 0.000878237 0 0 A2M 2 broad.mit.edu 37 12 9254095 9254095 + Missense_Mutation SNP A A T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:9254095A>T ENST00000318602.7 - 12 1749 c.1442T>A c.(1441-1443)aTt>aAt p.I481N NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 481 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) TCCATTCAGAATATAATGTGC 0.493000 4 33 0 0 0.000602214 0 0 OR5AK2 390181 broad.mit.edu 37 11 56757027 56757027 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:56757027C>T ENST00000326855.2 + 1 681 c.639C>T c.(637-639)gtC>gtT p.V213V NM_001005323.1 NP_001005323.1 Q8NH90 O5AK2_HUMAN olfactory receptor, family 5, subfamily AK, member 2 213 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 CTGGGTTGGTCGTCATCTTTT 0.433000 16 130 0 0 0.000566183 0 0 MYH8 4626 broad.mit.edu 37 17 10307677 10307677 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:10307677C>T ENST00000403437.2 - 22 2752 c.2658G>A c.(2656-2658)gaG>gaA p.E886E CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 886 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 GGTCATTTTTCTCTTTTAAGA 0.398000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 8 47 0 0 0.000157383 0 0 IZUMO1 284359 broad.mit.edu 37 19 49248480 49248480 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:49248480C>T ENST00000332955.2 - 3 848 c.301G>A c.(301-303)Gat>Aat p.D101N NM_182575.2 NP_872381.2 Q8IYV9 IZUM1_HUMAN izumo sperm-egg fusion 1 101 fusion of sperm to egg plasma membrane integral to membrane endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 17 all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) CCTTTTACATCACTGTCTGTG 0.502000 10 84 0 0 0.00010058 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20493244 20493244 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:20493244C>T ENST00000202677.6 - 32 4911 c.4769G>A c.(4768-4770)gGg>gAg p.G1590E NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 1590 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 GGAGGGCTGCCCTTGGCTGGT 0.463000 6 33 0 0 0.00116845 0 0 KIAA1958 158405 broad.mit.edu 37 9 115337320 115337320 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:115337320G>A ENST00000337530.6 + 2 1256 c.960G>A c.(958-960)caG>caA p.Q320Q KIAA1958_ENST00000374244.3_Silent_p.Q320Q|KIAA1958_ENST00000536272.1_Silent_p.Q320Q NM_133465.2 NP_597722.1 Q8N8K9 K1958_HUMAN KIAA1958 320 endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3) 25 CTAACAAACAGATCAGTATCC 0.552000 21 225 0 0 0.000229342 0 0 TRIM55 84675 broad.mit.edu 37 8 67047249 67047249 + Silent SNP C C T rs151067178 TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:67047249C>T ENST00000315962.4 + 3 739 c.366C>T c.(364-366)ccC>ccT p.P122P TRIM55_ENST00000350034.4_Silent_p.P122P|TRIM55_ENST00000353317.5_Silent_p.P122P|TRIM55_ENST00000276573.7_Silent_p.P122P NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 122 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding p.P122P(1) 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) CCGACCAGCCCATGTGCGAGG 0.517000 10 58 0 0 0.00010058 0 0 PCDHA4 56144 broad.mit.edu 37 5 140187363 140187363 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:140187363G>A ENST00000530339.1 + 1 591 c.591G>A c.(589-591)cgG>cgA p.R197R PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.R197R|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Silent_p.R197R 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) TTATATTACGGAAATCTTTAG 0.458000 9 90 0 0 0.000442599 0 0 KDM2B 84678 broad.mit.edu 37 12 122012474 122012474 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:122012474G>A ENST00000377069.4 - 4 688 c.282C>T c.(280-282)gtC>gtT p.V94V KDM2B_ENST00000538046.2_Silent_p.V125V|KDM2B_ENST00000536437.1_Silent_p.V8V|KDM2B_ENST00000377071.4_Silent_p.V125V NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 125 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 TGACGTCTCGGACTGTGAAAT 0.567000 7 76 0 0 0.000274275 0 0 NLRP13 126204 broad.mit.edu 37 19 56424097 56424097 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:56424097C>T ENST00000588751.1 - 5 1110 c.1086G>A c.(1084-1086)acG>acA p.T362T NLRP13_ENST00000342929.3_Silent_p.T362T Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 362 NACHT. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) AGGTCTTGATCGTGATCAGTA 0.468000 13 82 0 0 0.00010058 0 0 AGRN 375790 broad.mit.edu 37 1 985855 985855 + Silent SNP C C T rs147990356 byFrequency TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:985855C>T ENST00000379370.2 + 29 5075 c.5025C>T c.(5023-5025)ggC>ggT p.G1675G NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 1675 Laminin G-like 2. 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) GCCCCAGCGGCCTCCTGCTCT 0.672000 8 30 0 0 0.000442599 0 0 TLE4 7091 broad.mit.edu 37 9 82267551 82267551 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:82267551C>T ENST00000376520.4 + 7 1262 c.434C>T c.(433-435)cCc>cTc p.P145L TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Missense_Mutation_p.P145L|TLE4_ENST00000376544.3_Missense_Mutation_p.P145L|TLE4_ENST00000376552.2_Missense_Mutation_p.P145L|TLE4_ENST00000265284.6_Missense_Mutation_p.P120L|TLE4_ENST00000455913.1_3'UTR 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 CATGGTCTCCCCGTACCTCTG 0.557000 23 184 0 0 0.00047179 0 0 OR2M4 26245 broad.mit.edu 37 1 248402452 248402452 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:248402452C>T ENST00000306687.1 + 1 222 c.222C>T c.(220-222)atC>atT p.I74I NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 74 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TCATGCTCATCTGCACCACTC 0.458000 8 93 0 0 0.000274275 0 0 FGD2 221472 broad.mit.edu 37 6 36995249 36995249 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:36995249C>T ENST00000274963.8 + 15 1821 c.1650C>T c.(1648-1650)ttC>ttT p.F550F NM_173558.3 NP_775829.2 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 550 PH 2. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 TGTGCAGCTTCCTGCAGCTCA 0.617000 15 116 0 0 0.000308642 0 0 MAGEA3 4102 broad.mit.edu 37 X 151935354 151935354 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:151935354G>A ENST00000393902.3 - 3 1380 c.813C>T c.(811-813)ttC>ttT p.F271F MAGEA3_ENST00000370278.3_Silent_p.F271F P43357 MAGA3_HUMAN melanoma antigen family A, 3 271 MAGE. endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 15 Acute lymphoblastic leukemia(192;6.56e-05) GACCCCACAGGAATTCATAAC 0.537000 28 72 0 0 0.000227799 0 0 KCNV1 27012 broad.mit.edu 37 8 110984919 110984919 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:110984919C>T ENST00000524391.1 - 3 1591 c.559G>A c.(559-561)Gga>Aga p.G187R KCNV1_ENST00000297404.1_Missense_Mutation_p.G187R Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 187 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) GGACAAGGTCCTTGGGAGAAG 0.468000 16 87 0 0 0.000308642 0 0 PTPRE 5791 broad.mit.edu 37 10 129871687 129871687 + Nonsense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:129871687G>A ENST00000254667.3 + 17 1830 c.1551G>A c.(1549-1551)tgG>tgA p.W517* PTPRE_ENST00000419012.2_Nonsense_Mutation_p.W517*|PTPRE_ENST00000306042.5_Nonsense_Mutation_p.W459* NM_006504.4 NP_006495.1 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 517 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) TCTGGGAATGGAAATCCCACA 0.602000 12 52 0 0 0.000978159 0 0 C4orf26 152816 broad.mit.edu 37 4 76489604 76489604 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:76489604C>T ENST00000435974.2 + 3 410 c.392C>T c.(391-393)tCc>tTc p.S131F C4orf26_ENST00000311623.4_Silent_p.F116F NM_001206981.1 NP_001193910.1 Q17RF5 CD026_HUMAN chromosome 4 open reading frame 26 0 extracellular region kidney(1)|large_intestine(4)|stomach(1) 6 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) ATAGGTATTTCCCCAGAAGAA 0.433000 18 217 0 0 0.00121646 0 0 PROSER1 80209 broad.mit.edu 37 13 39597248 39597248 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr13:39597248G>A ENST00000352251.3 - 8 1417 c.584C>T c.(583-585)cCa>cTa p.P195L PROSER1_ENST00000484434.2_Intron|PROSER1_ENST00000350125.3_Missense_Mutation_p.P173L NM_025138.3 NP_079414.3 Q86XN7 CM023_HUMAN proline and serine rich 1 195 Pro-rich. AGGTTTATGTGGATTATATGT 0.378000 5 54 0 0 8.12818e-05 0 0 IGF2BP1 10642 broad.mit.edu 37 17 47119628 47119628 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:47119628C>T ENST00000290341.3 + 9 1300 c.966C>T c.(964-966)aaC>aaT p.N322N IGF2BP1_ENST00000431824.2_Silent_p.N183N NM_006546.3 NP_006537.3 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding protein 1 322 KH 2.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).|Sufficient for nuclear export. CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 CCCTTTACAACCCTGAGAGGA 0.537000 22 133 0 0 0.000375601 0 0 ROPN1B 152015 broad.mit.edu 37 3 125690939 125690939 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:125690939G>A ENST00000504401.1 + 2 291 c.42G>A c.(40-42)ctG>ctA p.L14L ROPN1B_ENST00000251776.4_Silent_p.L14L|ROPN1B_ENST00000514116.1_Silent_p.L14L|ROPN1B_ENST00000511862.1_3'UTR Q9BZX4 ROP1B_HUMAN rhophilin associated tail protein 1B 14 RIIa. acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis cytoplasm|flagellum cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1) 8 GBM - Glioblastoma multiforme(114;0.151) CGCCGGAGCTGCCGAAAATGC 0.517000 13 88 0 0 0.000308642 0 0 TAS2R38 5726 broad.mit.edu 37 7 141673169 141673169 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:141673169G>A ENST00000547270.1 - 1 404 c.321C>T c.(319-321)ctC>ctT p.L107L NM_176817.4 NP_789787.4 P59533 T2R38_HUMAN taste receptor, type 2, member 38 107 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) CAGCAAGCCAGAGGTTGGCTT 0.517000 9 89 0 0 0.000978159 0 0 NOS1AP 9722 broad.mit.edu 37 1 162325113 162325113 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:162325113G>A ENST00000361897.5 + 7 1134 c.732G>A c.(730-732)ggG>ggA p.G244G NOS1AP_ENST00000530878.1_Silent_p.G239G NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 244 regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) ATGCTGTAGGGAAGGAAGGAG 0.557000 8 143 0 0 0.000442599 0 0 ZIM3 114026 broad.mit.edu 37 19 57647152 57647152 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:57647152G>A ENST00000269834.1 - 5 938 c.553C>T c.(553-555)Cac>Tac p.H185Y NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 185 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CTCCTCAGGTGACTTTGAAGG 0.413000 22 154 0 0 0.000375601 0 0 SLC36A4 120103 broad.mit.edu 37 11 92881928 92881928 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:92881928G>A ENST00000326402.4 - 11 1420 c.1290C>T c.(1288-1290)atC>atT p.I430I SLC36A4_ENST00000529184.1_Silent_p.I295I NM_152313.2 NP_689526.2 Q6YBV0 S36A4_HUMAN solute carrier family 36 (proton/amino acid symporter), member 4 430 L-alanine transport|proline transport|tryptophan transport integral to membrane symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) AAGGTGGCAGGATTAGGGCCA 0.393000 15 149 0 0 0.000422831 0 0 LARP4 113251 broad.mit.edu 37 12 50848137 50848137 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:50848137C>T ENST00000398473.2 + 10 1170 c.1058C>T c.(1057-1059)tCg>tTg p.S353L LARP4_ENST00000518444.1_Missense_Mutation_p.S352L|LARP4_ENST00000522085.1_Missense_Mutation_p.S353L|LARP4_ENST00000347328.5_Missense_Mutation_p.S282L|LARP4_ENST00000429001.3_Missense_Mutation_p.S359L|LARP4_ENST00000293618.8_Missense_Mutation_p.S353L|LARP4_ENST00000518561.1_Missense_Mutation_p.S283L NM_052879.4|NM_199188.2 NP_443111.4|NP_954658.2 Q71RC2 LARP4_HUMAN La ribonucleoprotein domain family, member 4 353 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 GGCTTTAATTCGCCAGGATCT 0.343000 7 59 0 0 8.12818e-05 0 0 SBNO1 55206 broad.mit.edu 37 12 123782562 123782562 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:123782562G>A ENST00000420886.2 - 30 4001 c.4002C>T c.(4000-4002)atC>atT p.I1334I SBNO1_ENST00000602750.1_Silent_p.I1333I|SBNO1_ENST00000602398.1_Silent_p.I1334I|SBNO1_ENST00000267176.4_Silent_p.I1333I NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 1334 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) TTAGCCGCACGATCTGCATCT 0.433000 20 156 0 0 0.000229342 0 0 OR4N5 390437 broad.mit.edu 37 14 20612172 20612172 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr14:20612172C>T ENST00000333629.1 + 1 278 c.278C>T c.(277-279)tCc>tTc p.S93F NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) AAGGTAATCTCCTATAGAAGC 0.478000 11 118 0 0 0.000978159 0 0 C10orf68 79741 broad.mit.edu 37 10 33143406 33143406 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:33143406C>T ENST00000375030.2 + 22 2324 c.1706C>T c.(1705-1707)cCt>cTt p.P569L C10orf68_ENST00000375025.4_Missense_Mutation_p.P674L|C10orf68_ENST00000375028.3_Missense_Mutation_p.P614L Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 610 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4) 29 GTTGGAAAACCTACCTATAAA 0.343000 6 20 0 0 0.00116845 0 0 CLK2 1196 broad.mit.edu 37 1 155234037 155234037 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:155234037G>A ENST00000368361.4 - 11 1516 c.1201C>T c.(1201-1203)Cct>Tct p.P401S CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Missense_Mutation_p.P401S|CLK2_ENST00000361168.5_Missense_Mutation_p.P400S|CLK2_ENST00000355560.4_Missense_Mutation_p.P399S P49760 CLK2_HUMAN CDC-like kinase 2 401 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 22 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) ATCCGGGAAGGGATAGGACCC 0.458000 Other conserved DNA damage response genes 10 110 0 0 0.000151284 0 0 HECW2 57520 broad.mit.edu 37 2 197298104 197298104 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:197298104C>T ENST00000260983.2 - 2 226 c.44G>A c.(43-45)cGa>cAa p.R15Q NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 15 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity p.R15Q(2) 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 CTGGGGATTTCGACGCCTCAC 0.567000 7 40 0 0 0.000157383 0 0 METTL21C 196541 broad.mit.edu 37 13 103346730 103346730 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr13:103346730C>T ENST00000267273.6 - 1 124 c.119G>A c.(118-120)gGa>gAa p.G40E NM_001010977.1 NP_001010977.1 Q5VZV1 MT21C_HUMAN methyltransferase like 21C 40 methyltransferase activity breast(1)|large_intestine(3)|lung(2)|skin(1) 7 TTCTAGGACTCCCCCGGTGCT 0.547000 6 45 0 0 0.000157383 0 0 TM6SF1 53346 broad.mit.edu 37 15 83805341 83805341 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:83805341G>A ENST00000322019.9 + 10 1304 c.1030G>A c.(1030-1032)Gtt>Att p.V344I TM6SF1_ENST00000379386.4_Missense_Mutation_p.V347I|TM6SF1_ENST00000379390.6_3'UTR|TM6SF1_ENST00000565774.1_Missense_Mutation_p.V313I Q9BZW5 TM6S1_HUMAN transmembrane 6 superfamily member 1 344 integral to membrane endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 AGCATATGGAGTTCTTCCTCA 0.358000 14 152 0 0 0.000422831 0 0 MAP10 54627 broad.mit.edu 37 1 232942478 232942478 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:232942478G>A ENST00000418460.1 + 1 1836 c.1709G>A c.(1708-1710)aGg>aAg p.R570K NM_019090.2 NP_061963.2 microtubule-associated protein 10 TGGTTATATAGGACTGAGGAT 0.448000 6 54 0 0 8.12818e-05 0 0 OR2T4 127074 broad.mit.edu 37 1 248525317 248525317 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:248525317C>T ENST00000366475.1 + 1 435 c.435C>T c.(433-435)ttC>ttT p.F145F NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 145 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CAGAATTTTTCCTTCTAGCCA 0.517000 23 113 0 0 0.000375601 0 0 FCHO1 23149 broad.mit.edu 37 19 17875220 17875220 + Silent SNP G G A rs148025294 TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:17875220G>A ENST00000594202.1 + 6 435 c.156G>A c.(154-156)gcG>gcA p.A52A FCHO1_ENST00000539407.1_Silent_p.A52A|FCHO1_ENST00000600676.1_Silent_p.A52A|FCHO1_ENST00000596536.1_Silent_p.A52A|FCHO1_ENST00000595033.1_Silent_p.A2A|FCHO1_ENST00000389133.4_Silent_p.A52A|FCHO1_ENST00000596951.1_Silent_p.A52A|FCHO1_ENST00000599236.1_3'UTR|FCHO1_ENST00000597512.1_Silent_p.A59A|FCHO1_ENST00000252771.7_Silent_p.A52A NM_001161357.1 NP_001154829.1 O14526 FCHO1_HUMAN FCH domain only 1 52 FCH. NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 AGGCGATGGCGAAACTCTCCA 0.602000 7 39 0 0 0.000157383 0 0 ANKRD33 341405 broad.mit.edu 37 12 52282492 52282492 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:52282492C>T ENST00000301190.6 + 2 513 c.286C>T c.(286-288)Ctg>Ttg p.L96L ANKRD33_ENST00000538991.1_5'UTR|ANKRD33_ENST00000340970.4_5'UTR|ANKRD33_ENST00000547119.1_3'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) AGGCTGCAGGCTGGGGGCCCT 0.647000 7 61 0 0 8.12818e-05 0 0 TRBV10-1 28585 broad.mit.edu 37 7 142231754 142231754 + RNA SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:142231754G>A ENST00000390364.3 - 0 230 AGGTCTTGTCGATACCAGAAC 0.488000 21 172 0 0 0.000295444 0 0 RASSF6 166824 broad.mit.edu 37 4 74442374 74442374 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:74442374G>A ENST00000307439.5 - 9 1090 c.796C>T c.(796-798)Cgc>Tgc p.R266C RASSF6_ENST00000335049.5_Missense_Mutation_p.R254C|RASSF6_ENST00000395777.2_Missense_Mutation_p.R232C|RASSF6_ENST00000342081.3_Missense_Mutation_p.R298C NM_001270391.1|NM_177532.4 NP_001257320.1|NP_803876.1 Q6ZTQ3 RASF6_HUMAN Ras association (RalGDS/AF-6) domain family member 6 298 Ras-associating. apoptosis|signal transduction protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2) 17 Breast(15;0.00102) all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) AGGAAAATGCGAGCATTCTTT 0.438000 24 199 0 0 0.00047179 0 0 CFTR 1080 broad.mit.edu 37 7 117175355 117175355 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:117175355C>T ENST00000003084.6 + 6 765 c.633C>T c.(631-633)ctC>ctT p.L211L CFTR_ENST00000454343.1_Silent_p.L211L NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 211 ABC transmembrane type-1 1. 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) TGGCACTCCTCATGGGGCTAA 0.488000 Cystic Fibrosis 14 169 0 0 0.00074312 0 0 MYH11 4629 broad.mit.edu 37 16 15814883 15814883 + Missense_Mutation SNP C C G rs137934837 byFrequency TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:15814883C>G ENST00000338282.6 - 33 4710 c.4604G>C c.(4603-4605)cGg>cCg p.R1535P NDE1_ENST00000396354.1_Intron|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.R1542P|MYH11_ENST00000300036.5_Missense_Mutation_p.R1535P|MYH11_ENST00000452625.2_Missense_Mutation_p.R1542P|MYH11_ENST00000576790.1_Missense_Mutation_p.R1535P|NDE1_ENST00000342673.5_Intron NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 1535 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 CTCCAGGGCCCGCTTGGACTT 0.602000 T CBFB AML 12 61 0 0 0.000151284 0 0 SLC8A1 6546 broad.mit.edu 37 2 40391997 40391997 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:40391997G>A ENST00000406785.1 - 5 2247 c.2058C>T c.(2056-2058)ttC>ttT p.F686F SLC8A1_ENST00000402441.1_Silent_p.F686F|SLC8A1_ENST00000408028.2_Silent_p.F714F|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000406391.2_Silent_p.F686F|SLC8A1_ENST00000405901.3_Silent_p.F717F|SLC8A1_ENST00000405269.1_Silent_p.F686F|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000332839.4_Silent_p.F722F|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000542024.1_Silent_p.F686F|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000542756.1_Silent_p.F717F|SLC8A1_ENST00000403092.1_Silent_p.F722F|SLC8A1-AS1_ENST00000599268.1_RNA P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 722 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) AGCATACCTTGAATTCATAGG 0.512000 18 121 0 0 0.00121646 0 0 ATP8A1 10396 broad.mit.edu 37 4 42583715 42583715 + Nonsense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:42583715G>A ENST00000381668.5 - 10 988 c.757C>T c.(757-759)Cga>Tga p.R253* ATP8A1_ENST00000264449.10_Nonsense_Mutation_p.R253* NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 253 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) TGAGCTCCTCGAAGAAGAATC 0.408000 8 94 0 0 0.000673444 0 0 OR7G2 390882 broad.mit.edu 37 19 9213846 9213846 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:9213846G>A ENST00000305456.2 - 1 136 c.137C>T c.(136-138)cCc>cTc p.P46L NM_001005193.1 NP_001005193.1 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, member 2 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3) 16 GAAAAGGACGGGCTGCAGTTC 0.502000 7 71 0 0 0.000274275 0 0 SERPINI2 5276 broad.mit.edu 37 3 167183361 167183361 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:167183361G>A ENST00000476257.1 - 5 877 c.579C>T c.(577-579)ttC>ttT p.F193F SERPINI2_ENST00000461846.1_Silent_p.F193F|SERPINI2_ENST00000264677.4_Silent_p.F193F|SERPINI2_ENST00000471111.1_Silent_p.F193F O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), member 2 193 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 CCTCTTTTCTGAATTTCTGTT 0.358000 7 37 0 0 8.12818e-05 0 0 RARB 5915 broad.mit.edu 37 3 25635173 25635173 + Silent SNP C C G rs114613844 by1000genomes TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:25635173C>G ENST00000330688.4 + 6 1387 c.966C>G c.(964-966)ctC>ctG p.L322L RARB_ENST00000458646.1_Silent_p.L210L|RARB_ENST00000404969.1_Silent_p.L329L|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000437042.2_Silent_p.L210L NM_000965.3 NP_000956.2 P10826 RARB_HUMAN retinoic acid receptor, beta 329 Ligand-binding. embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 28 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799) CAGGCCTTCTCAGTGCCATCT 0.428000 13 40 0 0 0.000308642 0 0 FCRL3 115352 broad.mit.edu 37 1 157668209 157668209 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:157668209G>A ENST00000368184.3 - 4 554 c.263C>T c.(262-264)tCc>tTc p.S88F FCRL3_ENST00000368186.5_Missense_Mutation_p.S88F NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 88 Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) ATCACTGAGGGAGGATCCTCG 0.463000 6 107 0 0 8.12818e-05 0 0 THSD7B 80731 broad.mit.edu 37 2 138169256 138169256 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:138169256G>A ENST00000409968.1 + 14 2951 c.2773G>A c.(2773-2775)Gaa>Aaa p.E925K THSD7B_ENST00000272643.3_Missense_Mutation_p.E925K|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.E894K thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TCCTTGTGATGAATTTATATC 0.458000 17 109 0 0 0.000566183 0 0 TAS1R2 80834 broad.mit.edu 37 1 19166281 19166281 + Missense_Mutation SNP T T A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:19166281T>A ENST00000375371.3 - 6 2353 c.2332A>T c.(2332-2334)Acc>Tcc p.T778S NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 778 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) GACATGAAGGTGCAGAGGGAG 0.572000 15 32 0 0 0.000219431 0 0 MFSD5 84975 broad.mit.edu 37 12 53647946 53647946 + Nonsense_Mutation SNP G G T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:53647946G>T ENST00000534842.1 + 2 1795 c.1648G>T c.(1648-1650)Gag>Tag p.E550* MFSD5_ENST00000329548.4_Nonsense_Mutation_p.E443* NM_001170790.1 NP_001164261.1 Q6N075 MFSD5_HUMAN major facilitator superfamily domain containing 5 443 transport integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1) 16 TTCACCTACTGAGGAGCCCTA 0.547000 9 70 6.42651e-13 5.34068e-12 0.000978159 1 0 SELENBP1 8991 broad.mit.edu 37 1 151340775 151340775 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:151340775G>A ENST00000426705.2 - 5 651 c.507C>T c.(505-507)atC>atT p.I169I SELENBP1_ENST00000473693.1_5'UTR|SELENBP1_ENST00000447402.3_Silent_p.I65I|SELENBP1_ENST00000435071.1_Silent_p.I63I|SELENBP1_ENST00000368868.5_Silent_p.I127I NM_001258289.1 NP_001245218.1 Q13228 SBP1_HUMAN selenium binding protein 1 127 protein transport cytosol|membrane|nucleolus protein binding|selenium binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.00871)|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) ACTTGGCATGGATGTCCTTGG 0.562000 10 89 0 0 0.000442599 0 0 FAM217A 222826 broad.mit.edu 37 6 4069899 4069899 + Nonsense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:4069899C>T ENST00000274673.3 - 7 961 c.558G>A c.(556-558)tgG>tgA p.W186* FAM217A_ENST00000380188.2_5'UTR NM_173563.2 NP_775834.2 Q8IXS0 CF146_HUMAN family with sequence similarity 217, member A 186 GTTTCAAATTCCAATTTGGAG 0.318000 6 73 0 0 8.12818e-05 0 0 SLC7A2 6542 broad.mit.edu 37 8 17401052 17401052 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:17401052C>T ENST00000470360.1 + 4 441 c.324C>T c.(322-324)atC>atT p.I108I SLC7A2_ENST00000398090.3_Silent_p.I108I|SLC7A2_ENST00000004531.10_Silent_p.I108I|SLC7A2_ENST00000494857.1_Silent_p.I68I|SLC7A2_ENST00000522656.1_Silent_p.I68I P52569 CTR2_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 68 cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 25 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) GCCCCAGCATCGTGGTGTCCT 0.617000 5 31 0 0 0.00116845 0 0 MYH4 4622 broad.mit.edu 37 17 10351220 10351220 + Missense_Mutation SNP T T A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:10351220T>A ENST00000255381.2 - 34 4990 c.4880A>T c.(4879-4881)aAt>aTt p.N1627I CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1627 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 TTCCATTTCATTAAGATCTCC 0.463000 19 155 0 0 0.000229342 0 0 CASR 846 broad.mit.edu 37 3 121980881 121980881 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:121980881C>T ENST00000498619.1 + 4 1437 c.999C>T c.(997-999)ttC>ttT p.F333F CASR_ENST00000296154.5_Silent_p.F333F|CASR_ENST00000490131.1_Silent_p.F333F NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 333 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) TCCGGGAATTCCTGAAGAAGG 0.537000 5 57 0 0 0.000602214 0 0 CSTF2 1478 broad.mit.edu 37 X 100077327 100077327 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:100077327G>A ENST00000415585.2 + 3 247 c.225G>A c.(223-225)cgG>cgA p.R75R CSTF2_ENST00000486615.1_Intron|CSTF2_ENST00000372972.2_Silent_p.R75R P33240 CSTF2_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa 75 RRM. mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cleavage body|mRNA cleavage and polyadenylation specificity factor complex nucleotide binding|protein binding|RNA binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1) 13 GTGCCATGCGGAACCTGAATG 0.473000 17 35 0 0 0.000422831 0 0 OR2B3 442184 broad.mit.edu 37 6 29054621 29054621 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:29054621G>A ENST00000377173.2 - 1 469 c.405C>T c.(403-405)atC>atT p.I135I NM_001005226.2 NP_001005226.1 olfactory receptor, family 2, subfamily B, member 3 breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2) 24 AATAATTCATGATGACTACAT 0.488000 7 73 0 0 0.000274275 0 0 CDH6 1004 broad.mit.edu 37 5 31317540 31317540 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:31317540C>T ENST00000265071.2 + 10 1836 c.1571C>T c.(1570-1572)tCg>tTg p.S524L CDH6_ENST00000514738.1_Missense_Mutation_p.S469L NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 524 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CACCAATTTTCGTTTTCCTTG 0.403000 12 105 0 0 0.000978159 0 0 SEC22B 9554 broad.mit.edu 37 1 145109620 145109620 + RNA SNP A A G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:145109620A>G ENST00000453618.1 + 0 609 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding TGCACTCAGAATTTGATGAAC 0.448000 20 918 0 0 0.00121646 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161029468 161029468 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:161029468C>T ENST00000368013.3 - 2 456 c.136G>A c.(136-138)Gag>Aag p.E46K ARHGAP30_ENST00000368016.3_Missense_Mutation_p.E46K|ARHGAP30_ENST00000368015.1_Intron NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 46 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) ACTCCATACTCCTCCACAAAT 0.557000 16 100 0 0 0.000422831 0 0 C1QTNF7 114905 broad.mit.edu 37 4 15443927 15443927 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:15443927G>A ENST00000295297.4 + 3 654 c.395G>A c.(394-396)gGa>gAa p.G132E C1QTNF7_ENST00000429690.1_Missense_Mutation_p.G125E|C1QTNF7_ENST00000444304.2_Missense_Mutation_p.G125E NM_001135170.1 NP_001128642.1 Q9BXJ2 C1QT7_HUMAN C1q and tumor necrosis factor related protein 7 125 Collagen-like. collagen endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1) 16 GGACCAAAGGGAGACAGAGGA 0.547000 9 128 0 0 0.000274275 0 0 TTN 7273 broad.mit.edu 37 2 179596517 179596517 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:179596517C>T ENST00000589042.1 - 58 17309 c.17085G>A c.(17083-17085)caG>caA p.Q5695Q TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.Q4451Q|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.Q5378Q NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5378 Ig-like 38. 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) ACTTGAGGATCTGCAGGCTAA 0.483000 7 101 0 0 8.12818e-05 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106558339 106558339 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:106558339G>A ENST00000526355.1 - 8 2603 c.2135C>T c.(2134-2136)tCg>tTg p.S712L GUCY1A2_ENST00000347596.2_Missense_Mutation_p.S733L|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.S743L NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 712 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding p.S712L(1) breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) TATTCTCGACGAAGAAAGAGA 0.478000 13 100 0 0 0.000219431 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52002461 52002461 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:52002461C>T ENST00000291707.3 - 4 1153 c.1098G>A c.(1096-1098)caG>caA p.Q366Q SIGLEC12_ENST00000598614.1_Silent_p.Q248Q NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 366 Ig-like C2-type 2. cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) TGGTCAAGTTCTGAGGAGGAT 0.567000 5 71 0 0 0.000602214 0 0 IGHV3-21 28444 broad.mit.edu 37 14 106691718 106691718 + RNA SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr14:106691718C>T ENST00000390607.2 - 0 384 TCAGGCTGTTCATTTGCAGAT 0.512000 17 134 0 0 0.000878237 0 0 UNC5D 137970 broad.mit.edu 37 8 35542215 35542215 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:35542215C>T ENST00000453357.2 + 6 908 c.852C>T c.(850-852)gcC>gcT p.A284A UNC5D_ENST00000416672.1_Silent_p.A289A|UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000404895.2_Silent_p.A289A Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 289 TSP type-1 1. 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) ATGGTGGGGCCTTTTGTGAGG 0.507000 11 115 0 0 0.00010058 0 0 TFAP2B 7021 broad.mit.edu 37 6 50803973 50803973 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:50803973C>T ENST00000263046.4 + 5 994 c.828C>T c.(826-828)ctC>ctT p.L276L TFAP2B_ENST00000393655.3_Silent_p.L267L Q92481 AP2B_HUMAN transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 267 nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) ATGCATCTCTCCTCGGCGGAG 0.458000 7 43 0 0 0.000442599 0 0 MAFA 389692 broad.mit.edu 37 8 144511677 144511677 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:144511677C>T ENST00000333480.2 - 1 899 c.900G>A c.(898-900)gtG>gtA p.V300V MAFA_ENST00000528185.1_Intron NM_201589.3 NP_963883.2 Q8NHW3 MAFA_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A 300 Leucine-zipper. insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus nucleus protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|lung(1)|upper_aerodigestive_tract(2) 4 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237) CCAGGCGCCCCACCTCCAGCT 0.692000 HNSCC(29;0.082) 5 35 0 0 0.00116845 0 0 APCS 325 broad.mit.edu 37 1 159558147 159558147 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:159558147C>T ENST00000255040.2 + 2 418 c.321C>T c.(319-321)ttC>ttT p.F107F NM_001639.3 NP_001630.1 P02743 SAMP_HUMAN amyloid P component, serum 107 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_hematologic(112;0.0429) TCGAAAAGTTCCCGGCTCCAG 0.433000 12 55 0 0 0.000219431 0 0 MYT1L 23040 broad.mit.edu 37 2 1926616 1926616 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:1926616C>T ENST00000399161.2 - 10 1672 c.925G>A c.(925-927)Gga>Aga p.G309R MYT1L_ENST00000428368.2_Missense_Mutation_p.G309R NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 309 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TCCATGAGTCCGTTGTTCATG 0.483000 13 161 0 0 0.000151284 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3683950 3683950 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:3683950G>A ENST00000344754.4 - 5 1121 c.1122C>T c.(1120-1122)acC>acT p.T374T SIGLEC1_ENST00000202578.4_Silent_p.T374T NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 374 Ig-like C2-type 3. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 GCAGCCGGAGGGTATGGGAGT 0.587000 8 69 0 0 0.000274275 0 0 SI 6476 broad.mit.edu 37 3 164704953 164704953 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:164704953G>A ENST00000264382.3 - 45 5232 c.5170C>T c.(5170-5172)Ctg>Ttg p.L1724L NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1724 Sucrase. 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) TCCCAAAACAGAGAACCCTGT 0.333000 HNSCC(35;0.089) 7 115 0 0 0.000442599 0 0 OR6F1 343169 broad.mit.edu 37 1 247875903 247875903 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:247875903G>A ENST00000302084.2 - 1 202 c.155C>T c.(154-156)tCc>tTc p.S52F RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) CAACTGATGGGAGGTGCTCAC 0.473000 15 95 0 0 0.000219431 0 0 TNFSF15 9966 broad.mit.edu 37 9 117553074 117553074 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:117553074G>A ENST00000374045.4 - 4 527 c.414C>T c.(412-414)ttC>ttT p.F138F TNFSF15_ENST00000374044.1_Silent_p.F61F NM_001204344.1|NM_005118.3 NP_001191273.1|NP_005109.2 O95150 TNF15_HUMAN tumor necrosis factor (ligand) superfamily, member 15 138 activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response extracellular space|integral to plasma membrane cytokine activity|tumor necrosis factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1) 11 GGATCAGCAGGAATTTGTTGG 0.498000 14 75 0 0 0.000308642 0 0 OR4Q3 441669 broad.mit.edu 37 14 20215793 20215793 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr14:20215793C>T ENST00000331723.1 + 1 207 c.207C>T c.(205-207)ttC>ttT p.F69F NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 69 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) ATCTCTCTTTCATTGACCTAT 0.458000 14 108 0 0 0.000151284 0 0 KCNH6 81033 broad.mit.edu 37 17 61619792 61619792 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:61619792G>A ENST00000583023.1 + 9 2156 c.2145G>A c.(2143-2145)cgG>cgA p.R715R KCNH6_ENST00000456941.2_Silent_p.R662R|KCNH6_ENST00000581784.1_Silent_p.R662R|KCNH6_ENST00000314672.5_Silent_p.R715R NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 715 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) TCAACCTGCGGGACGTGAGTC 0.622000 14 44 0 0 0.000219431 0 0 EEF1E1 9521 broad.mit.edu 37 6 8102719 8102719 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:8102719C>T ENST00000379715.5 - 1 92 c.36G>A c.(34-36)aaG>aaA p.K12K EEF1E1_ENST00000429723.2_Silent_p.K12K|EEF1E1-MUTED_ENST00000397456.2_Silent_p.K12K|EEF1E1_ENST00000507463.1_Silent_p.K12K NM_004280.4 NP_004271.1 O43324 MCA3_HUMAN eukaryotic translation elongation factor 1 epsilon 1 12 negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation cytosol|nucleus endometrium(1)|prostate(1) 2 Ovarian(93;0.0398) GTCCCAGGGACTTCTCCAGTA 0.627000 5 71 0 0 0.000602214 0 0 OR2T2 401992 broad.mit.edu 37 1 248616729 248616729 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:248616729C>T ENST00000342927.3 + 1 653 c.631C>T c.(631-633)Cct>Tct p.P211S NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCTGCTTATCCCTCTATCTGT 0.532000 8 84 0 0 0.000442599 0 0 OR9Q1 219956 broad.mit.edu 37 11 57947792 57947792 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:57947792G>A ENST00000335397.3 + 3 1192 c.876G>A c.(874-876)agG>agA p.R292R NM_001005212.3 NP_001005212.1 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, member 1 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Breast(21;0.222) ACAGCCTGAGGAACAAGGAAG 0.468000 8 53 0 0 0.000442599 0 0 PSG2 5670 broad.mit.edu 37 19 43579626 43579626 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:43579626C>T ENST00000406487.1 - 3 687 c.589G>A c.(589-591)Gaa>Aaa p.E197K NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 197 Ig-like C2-type 1. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) CTGTTGGTTTCGGACAGCTGA 0.498000 24 276 0 0 0.00106085 0 0 NUP133 55746 broad.mit.edu 37 1 229623326 229623326 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:229623326G>A ENST00000261396.3 - 10 1320 c.1229C>T c.(1228-1230)cCa>cTa p.P410L NUP133_ENST00000537506.1_Missense_Mutation_p.P394L|NUP133_ENST00000366679.1_Missense_Mutation_p.P410L NM_018230.2 NP_060700.2 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 410 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4) 56 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) TGAAAAGTTTGGGACCGTCAA 0.348000 9 97 0 0 0.000673444 0 0 ZNF638 27332 broad.mit.edu 37 2 71592753 71592753 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:71592753C>T ENST00000409544.1 + 6 2542 c.1912C>T c.(1912-1914)Cgt>Tgt p.R638C ZNF638_ENST00000355812.3_Missense_Mutation_p.R638C|ZNF638_ENST00000264447.4_Missense_Mutation_p.R638C|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Missense_Mutation_p.R638C NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 638 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding p.R638C(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 ACATTCTATTCGTTGTAAATC 0.363000 5 39 0 0 0.000602214 0 0 HHLA2 11148 broad.mit.edu 37 3 108076794 108076794 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:108076794G>A ENST00000357759.5 + 6 1203 c.789G>A c.(787-789)atG>atA p.M263I HHLA2_ENST00000489514.2_Missense_Mutation_p.M263I|HHLA2_ENST00000467562.1_Missense_Mutation_p.M199I|HHLA2_ENST00000491820.1_Missense_Mutation_p.M263I|HHLA2_ENST00000467761.1_Missense_Mutation_p.M263I NM_007072.2 NP_009003.1 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 263 Ig-like V-type 2. integral to membrane endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 GGTCCAGAATGAAAAGTGGGA 0.383000 44 153 0 0 0.000680045 0 0 KIF20B 9585 broad.mit.edu 37 10 91498211 91498211 + Nonsense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:91498211C>T ENST00000416354.1 + 20 3775 c.3703C>T c.(3703-3705)Caa>Taa p.Q1235* KIF20B_ENST00000394289.2_Nonsense_Mutation_p.Q1205*|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Nonsense_Mutation_p.Q1165*|KIF20B_ENST00000371728.3_Nonsense_Mutation_p.Q1205* Q96Q89 KI20B_HUMAN kinesin family member 20B 1205 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 GAAGGAATTTCAAGAACATCT 0.318000 17 58 0 0 0.000422831 0 0 RP1 6101 broad.mit.edu 37 8 55539221 55539221 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:55539221C>T ENST00000220676.1 + 4 2927 c.2779C>T c.(2779-2781)Cca>Tca p.P927S NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 927 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) AAATCCATATCCAACTTTAAA 0.328000 6 39 0 0 8.12818e-05 0 0 AGTR1 185 broad.mit.edu 37 3 148459402 148459402 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:148459402G>A ENST00000542281.1 + 4 1026 c.580G>A c.(580-582)Ggg>Agg p.G194R AGTR1_ENST00000474935.1_Missense_Mutation_p.G194R|AGTR1_ENST00000418473.2_Missense_Mutation_p.G194R|AGTR1_ENST00000461609.1_Missense_Mutation_p.G194R|AGTR1_ENST00000497524.1_Missense_Mutation_p.G194R|AGTR1_ENST00000349243.3_Missense_Mutation_p.G194R|AGTR1_ENST00000475347.1_Missense_Mutation_p.G194R|AGTR1_ENST00000402260.1_Missense_Mutation_p.G194R|AGTR1_ENST00000404754.2_Missense_Mutation_p.G194R NM_031850.3 NP_114038.4 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 194 calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) CCTCCCGATAGGGCTGGGCCT 0.383000 15 44 0 0 0.000422831 0 0 COL4A5 1287 broad.mit.edu 37 X 107924160 107924160 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:107924160G>A ENST00000328300.6 + 46 4305 c.4061G>A c.(4060-4062)gGg>gAg p.G1354E COL4A5_ENST00000361603.2_Missense_Mutation_p.G1348E NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1348 Triple-helical region. 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 GGCCCTGAGGGGGAACCGGGA 0.443000 Alport syndrome with Diffuse Leiomyomatosis 8 28 0 0 0.000673444 0 0 MTRR 4552 broad.mit.edu 37 5 7891493 7891493 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:7891493C>T ENST00000264668.2 + 10 1447 c.1417C>T c.(1417-1419)Cct>Tct p.P473S MTRR_ENST00000440940.2_Missense_Mutation_p.P446S NM_002454.2|NM_024010.2 NP_002445.2|NP_076915.2 Q9UBK8 MTRR_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 473 FAD-binding FR-type. methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1) 31 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) AGAACATCTTCCTAAACTTCA 0.289000 8 82 0 0 0.000442599 0 0 PDK4 5166 broad.mit.edu 37 7 95222230 95222230 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:95222230C>T ENST00000005178.5 - 4 568 c.371G>A c.(370-372)cGa>cAa p.R124Q NM_002612.3 NP_002603.1 Q16654 PDK4_HUMAN pyruvate dehydrogenase kinase, isozyme 4 124 glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0151) GTGTCTATTTCGAACTTTGAT 0.348000 9 89 0 0 0.00010058 0 0 ZNF536 9745 broad.mit.edu 37 19 30936037 30936037 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:30936037C>T ENST00000355537.3 + 2 1715 c.1568C>T c.(1567-1569)gCt>gTt p.A523V NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 523 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) AGCTACCAGGCTTGGCAGCTC 0.617000 9 100 0 0 0.000442599 0 0 MAN1A1 4121 broad.mit.edu 37 6 119628140 119628140 + Nonsense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:119628140C>T ENST00000368468.3 - 3 1062 c.621G>A c.(619-621)tgG>tgA p.W207* MAN1A1_ENST00000368466.2_Nonsense_Mutation_p.W230* NM_005907.3 NP_005898.2 P33908 MA1A1_HUMAN mannosidase, alpha, class 1A, member 1 207 post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3) 24 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) TATAATTATTCCAAGCATGTT 0.318000 12 102 0 0 0.00010058 0 0 DBF4 10926 broad.mit.edu 37 7 87537097 87537097 + Missense_Mutation SNP G G T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:87537097G>T ENST00000265728.1 + 12 2148 c.1644G>T c.(1642-1644)aaG>aaT p.K548N NM_006716.3 NP_006707.1 Q9UBU7 DBF4A_HUMAN DBF4 homolog (S. cerevisiae) 548 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3) 28 Esophageal squamous(14;0.00202) Breast(660;0.0334) TTCAGGCAAAGGCTCCATTCC 0.368000 10 100 3.07112e-06 2.54934e-05 0.000978159 1 0 ACOX3 8310 broad.mit.edu 37 4 8416051 8416051 + Missense_Mutation SNP G G A rs140131783 byFrequency TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:8416051G>A ENST00000356406.5 - 5 588 c.511C>T c.(511-513)Cgc>Tgc p.R171C ACOX3_ENST00000503233.1_Missense_Mutation_p.R171C|ACOX3_ENST00000413009.2_Missense_Mutation_p.R171C NM_003501.2 NP_003492.2 O15254 ACOX3_HUMAN acyl-CoA oxidase 3, pristanoyl 171 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 GCAGTTGTGCGAATGGCCTTG 0.463000 9 104 0 0 0.000442599 0 0 ASTN1 460 broad.mit.edu 37 1 176915167 176915167 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:176915167C>T ENST00000367654.2 - 13 2181 c.2168G>A c.(2167-2169)aGc>aAc p.S723N ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.S715N|ASTN1_ENST00000361833.2_Missense_Mutation_p.S715N|ASTN1_ENST00000424564.2_Missense_Mutation_p.S715N O14525 ASTN1_HUMAN astrotactin 1 723 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 AAGCTCCCTGCTTTCCCCACA 0.537000 6 94 0 0 0.00116845 0 0 CPT1B 1375 broad.mit.edu 37 22 51011383 51011383 + Missense_Mutation SNP A A C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr22:51011383A>C ENST00000360719.2 - 11 1410 c.1273T>G c.(1273-1275)Tcc>Gcc p.S425A CPT1B_ENST00000405237.3_Missense_Mutation_p.S425A|CPT1B_ENST00000434492.2_Missense_Mutation_p.S222A|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000457250.1_Missense_Mutation_p.S391A|CPT1B_ENST00000395650.2_Missense_Mutation_p.S425A|CPT1B_ENST00000440709.1_Intron|CPT1B_ENST00000312108.7_Missense_Mutation_p.S425A NM_001145135.1|NM_152245.2 NP_001138607.1|NP_689451.1 Q92523 CPT1B_HUMAN carnitine palmitoyltransferase 1B (muscle) 425 carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207) TAGGAGTAGGATTCCTCATCC 0.602000 16 169 0 0 0.000422831 0 0 OR4N4 283694 broad.mit.edu 37 15 22382594 22382594 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:22382594G>A ENST00000328795.4 + 1 213 c.122G>A c.(121-123)gGa>gAa p.G41E RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 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) ATCCTCCCTGGAAATTTTCTC 0.443000 19 233 0 0 0.00121646 0 0 LSG1 55341 broad.mit.edu 37 3 194369450 194369450 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:194369450G>A ENST00000265245.5 - 11 1817 c.1503C>T c.(1501-1503)caC>caT p.H501H NM_018385.2 NP_060855.2 Q9H089 LSG1_HUMAN large 60S subunit nuclear export GTPase 1 501 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9) 16 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) TTGGAGGTCGGTGGGGATCTT 0.393000 25 76 0 0 0.000586117 0 0 KAT7 11143 broad.mit.edu 37 17 47895285 47895285 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:47895285C>T ENST00000503935.2 + 9 1635 c.599C>T c.(598-600)cCt>cTt p.P200L KAT7_ENST00000509773.1_Missense_Mutation_p.P246L|KAT7_ENST00000435742.2_Missense_Mutation_p.P170L|KAT7_ENST00000454930.2_Missense_Mutation_p.P217L|KAT7_ENST00000259021.4_Missense_Mutation_p.P356L|KAT7_ENST00000510819.1_Missense_Mutation_p.P187L|KAT7_ENST00000513980.1_Intron|KAT7_ENST00000424009.2_Missense_Mutation_p.P326L O95251 MYST2_HUMAN K(lysine) acetyltransferase 7 356 DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding TCTCCATATCCTGAAGAATAT 0.428000 6 85 0 0 0.00116845 0 0 IGKV1D-8 28904 broad.mit.edu 37 2 90259989 90259989 + RNA SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:90259989C>T ENST00000471857.1 + 0 273 CAGTCTCCATCCTTACTCTCT 0.423000 9 32 0 0 0.000442599 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140810551 140810551 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:140810551C>T ENST00000252085.3 + 1 367 c.225C>T c.(223-225)ttC>ttT p.F75F PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCAGCTTTTCGCCCTGAATC 0.632000 6 95 0 0 8.12818e-05 0 0 BSN 8927 broad.mit.edu 37 3 49694662 49694662 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:49694662C>T ENST00000296452.4 + 5 7787 c.7673C>T c.(7672-7674)tCc>tTc p.S2558F NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 2558 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) AAGCGGCACTCCATGCCACGC 0.622000 8 46 0 0 0.000442599 0 0 LILRA4 23547 broad.mit.edu 37 19 54849442 54849442 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:54849442G>A ENST00000291759.4 - 4 476 c.420C>T c.(418-420)acC>acT p.T140T NM_012276.3 NP_036408.3 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 140 Ig-like C2-type 2. integral to membrane receptor activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) CACACCGGAGGGTCACGTTCA 0.567000 6 57 0 0 0.000157383 0 0 MUC16 94025 broad.mit.edu 37 19 9072723 9072723 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:9072723G>A ENST00000397910.4 - 3 14926 c.14723C>T c.(14722-14724)tCg>tTg p.S4908L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4910 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 CTCTGTGGACGAGGTGATCTC 0.493000 19 171 0 0 0.00074312 0 0 CYP4F12 66002 broad.mit.edu 37 19 15806809 15806809 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:15806809C>T ENST00000550308.1 + 10 1559 c.1179C>T c.(1177-1179)ccC>ccT p.P393P CYP4F12_ENST00000324632.9_Silent_p.P393P NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) GGTTACATCCCCCAGCTCCCT 0.602000 18 68 0 0 0.00074312 0 0 LRRC8D 55144 broad.mit.edu 37 1 90399799 90399799 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:90399799C>T ENST00000337338.5 + 3 1579 c.1172C>T c.(1171-1173)cCt>cTt p.P391L LRRC8D_ENST00000394593.3_Missense_Mutation_p.P391L NM_001134479.1 NP_001127951.1 Q7L1W4 LRC8D_HUMAN leucine rich repeat containing 8 family, member D 391 integral to membrane protein binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1) 29 all_lung(203;0.0894)|Lung NSC(277;0.227) all cancers(265;0.0109)|Epithelial(280;0.0427) TTCAGGATACCTTTGAAGGAA 0.368000 19 87 0 0 0.00074312 0 0 EFHB 151651 broad.mit.edu 37 3 19975233 19975233 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:19975233C>T ENST00000295824.9 - 1 439 c.278G>A c.(277-279)aGt>aAt p.S93N EFHB_ENST00000344838.4_Intron|EFHB_ENST00000498089.1_5'UTR NM_144715.3 NP_653316.3 Q8N7U6 EFHB_HUMAN EF-hand domain family, member B 93 signal transduction proteinaceous extracellular matrix calcium ion binding breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 AGCTGAGACACTGTCGACTCC 0.428000 10 140 0 0 0.00010058 0 0 ANO3 63982 broad.mit.edu 37 11 26660733 26660733 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:26660733G>A ENST00000256737.3 + 21 2938 c.2086G>A c.(2086-2088)Ggt>Agt p.G696S ANO3_ENST00000531568.1_Missense_Mutation_p.G550S|ANO3_ENST00000525139.1_Missense_Mutation_p.G680S|ANO3_ENST00000537978.1_Missense_Mutation_p.G680S NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 696 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 CCTCCAGATGGGTGTCATCAT 0.398000 6 39 0 0 8.12818e-05 0 0 ADAM18 8749 broad.mit.edu 37 8 39506007 39506007 + Silent SNP T T C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:39506007T>C ENST00000265707.5 + 12 1236 c.1191T>C c.(1189-1191)atT>atC p.I397I ADAM18_ENST00000541111.1_Intron|ADAM18_ENST00000379866.1_Silent_p.I373I NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 397 Disintegrin. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) GTAATGGGATTTTGGAATCCA 0.308000 4 24 0 0 0.000602214 0 0 OR7C2 26658 broad.mit.edu 37 19 15052342 15052342 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:15052342C>T ENST00000248072.3 + 1 42 c.42C>T c.(40-42)ctC>ctT p.L14L NM_012377.1 NP_036509.1 O60412 OR7C2_HUMAN olfactory receptor, family 7, subfamily C, member 2 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(8)|ovary(2)|skin(2) 15 Ovarian(108;0.203) ACTTTCTCCTCCTGGGATTCG 0.493000 15 77 0 0 0.000219431 0 0 CHRM3 1131 broad.mit.edu 37 1 240071543 240071543 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:240071543G>A ENST00000255380.4 + 5 1571 c.792G>A c.(790-792)gaG>gaA p.E264E NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 264 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) GTACCAAAGAGCTTGCTGGCC 0.473000 14 84 0 0 0.000219431 0 0 EPB41L4B 54566 broad.mit.edu 37 9 112018069 112018069 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:112018069G>A ENST00000374566.3 - 10 1501 c.984C>T c.(982-984)gtC>gtT p.V328V EPB41L4B_ENST00000374557.4_Silent_p.V328V NM_019114.3 NP_061987.3 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 328 FERM. 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 CATCATCCTCGACCACCACGA 0.458000 8 88 0 0 0.000274275 0 0 TENM1 10178 broad.mit.edu 37 X 123805605 123805605 + Silent SNP T T G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:123805605T>G ENST00000422452.2 - 6 1159 c.1096A>C c.(1096-1098)Agg>Cgg p.R366R TENM1_ENST00000371130.3_Silent_p.R366R NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TCGGTCCCCCTGTTCCCTTTG 0.438000 6 47 0 0 0.000274275 0 0 FBXW4 6468 broad.mit.edu 37 10 103433373 103433373 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:103433373G>A ENST00000331272.7 - 3 1032 c.414C>T c.(412-414)ttC>ttT p.F138F NM_022039.3 NP_071322.1 P57775 FBXW4_HUMAN F-box and WD repeat domain containing 4 138 ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway ubiquitin ligase complex breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 15 Colorectal(252;0.123) Epithelial(162;4.35e-08)|all cancers(201;1.92e-06) AGGCCAGGATGAAATTAGCCT 0.478000 9 51 0 0 0.000442599 0 0 SLC26A9 115019 broad.mit.edu 37 1 205904826 205904826 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:205904826G>A ENST00000367135.3 - 2 236 c.123C>T c.(121-123)ttC>ttT p.F41F SLC26A9_ENST00000367134.2_Silent_p.F41F|RP4-681L3.2_ENST00000421166.1_RNA|SLC26A9_ENST00000340781.4_Silent_p.F41F NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 41 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) CCAGTTACCTGAAGGCATTGC 0.537000 24 204 0 0 0.00127121 0 0 KL 9365 broad.mit.edu 37 13 33638031 33638031 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr13:33638031C>T ENST00000380099.3 + 5 2755 c.2747C>T c.(2746-2748)tCg>tTg p.S916L KL_ENST00000487852.1_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 916 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) TTTGCTTATTCGTTTAACGAC 0.418000 19 182 0 0 0.000229342 0 0 STAB1 23166 broad.mit.edu 37 3 52545756 52545756 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:52545756G>A ENST00000321725.6 + 26 2954 c.2878G>A c.(2878-2880)Ggc>Agc p.G960S NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 960 EGF-like 9. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CGGCTGCCACGGCCTGGTAAG 0.662000 4 18 0 0 0.00024832 0 0 KIF4B 285643 broad.mit.edu 37 5 154395849 154395849 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:154395849G>A ENST00000435029.4 + 1 2590 c.2430G>A c.(2428-2430)ttG>ttA p.L810L NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 810 Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GTCAAGTTTTGGAGTCAGAAG 0.438000 7 31 0 0 0.000157383 0 0 TTC31 64427 broad.mit.edu 37 2 74720143 74720143 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:74720143C>T ENST00000233623.5 + 13 1365 c.1358C>T c.(1357-1359)tCc>tTc p.S453F TTC31_ENST00000442235.2_Intron|TTC31_ENST00000410003.1_3'UTR NM_022492.4 NP_071937.4 Q49AM3 TTC31_HUMAN tetratricopeptide repeat domain 31 453 binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 GGCCTACCTTCCCTCAGGTGC 0.617000 26 219 0 0 0.000878237 0 0 OR6C75 390323 broad.mit.edu 37 12 55759573 55759573 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:55759573C>T ENST00000343399.3 + 1 679 c.679C>T c.(679-681)Cct>Tct p.P227S NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 TCTGAAAATTCCTTCTATGAG 0.383000 10 65 0 0 0.000673444 0 0 PTK7 5754 broad.mit.edu 37 6 43109528 43109528 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:43109528C>T ENST00000230419.4 + 11 1962 c.1741C>T c.(1741-1743)Cgt>Tgt p.R581C PTK7_ENST00000345201.2_Missense_Mutation_p.R541C|PTK7_ENST00000352931.2_Missense_Mutation_p.R581C|PTK7_ENST00000349241.2_Missense_Mutation_p.R451C|PTK7_ENST00000481273.1_Missense_Mutation_p.R589C NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 581 Ig-like C2-type 6.|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) GGGCCAGATTCGTGCCCATGT 0.657000 12 145 0 0 0.000219431 0 0 ZIC1 7545 broad.mit.edu 37 3 147128382 147128382 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:147128382G>A ENST00000282928.4 + 1 1212 c.483G>A c.(481-483)ggG>ggA p.G161G NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 161 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 TGGTCAACGGGCAGATGAGGC 0.711000 12 26 0 0 0.000151284 0 0 IRX5 10265 broad.mit.edu 37 16 54967364 54967364 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:54967364C>T ENST00000394636.4 + 3 1368 c.1031C>T c.(1030-1032)tCg>tTg p.S344L IRX5_ENST00000320990.5_Missense_Mutation_p.S343L|IRX5_ENST00000558597.1_Missense_Mutation_p.S278L|IRX5_ENST00000560154.1_Intron P78411 IRX5_HUMAN iroquois homeobox 5 344 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding kidney(3)|large_intestine(6)|lung(4)|prostate(1) 14 GCCACATCGTCGGACAAGGTC 0.706000 6 27 0 0 0.000274275 0 0 MYH13 8735 broad.mit.edu 37 17 10209806 10209806 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:10209806C>T ENST00000418404.3 - 36 5599 c.5436G>A c.(5434-5436)ggG>ggA p.G1812G MYH13_ENST00000570743.1_Silent_p.G1812G|MYH13_ENST00000252172.4_Silent_p.G1812G Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1812 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 TCTGCTTCTTCCCGCCCTTCA 0.552000 16 229 0 0 0.000375601 0 0 RSPO2 340419 broad.mit.edu 37 8 108973025 108973025 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:108973025C>T ENST00000276659.5 - 4 924 c.304G>A c.(304-306)Gat>Aat p.D102N RSPO2_ENST00000517939.1_Missense_Mutation_p.D35N|RSPO2_ENST00000517781.1_Missense_Mutation_p.D39N|RSPO2_ENST00000378439.2_Missense_Mutation_p.D39N NM_178565.4 NP_848660.3 Q6UXX9 RSPO2_HUMAN R-spondin 2 102 Wnt receptor signaling pathway extracellular region heparin binding EIF3E/RSPO2(6) haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 28 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) AAGCAAGAATCACAGTTTTCT 0.303000 5 17 0 0 0.000602214 0 0 RP11-19N8.2 0 broad.mit.edu 37 16 33020956 33020956 + RNA SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:33020956G>A ENST00000567619.1 - 0 499 CACAGCGAGGGGAAGTCAGTG 0.587000 8 199 0 0 0.000274275 0 0 NUP205 23165 broad.mit.edu 37 7 135261109 135261109 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:135261109C>T ENST00000285968.6 + 4 461 c.435C>T c.(433-435)tcC>tcT p.S145S NUP205_ENST00000440390.2_5'UTR NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 145 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 TTGCGAATTCCTTGAAAGCCT 0.428000 7 90 0 0 0.000157383 0 0 PCSK5 5125 broad.mit.edu 37 9 78784740 78784740 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:78784740G>A ENST00000545128.1 + 13 2278 c.1740G>A c.(1738-1740)agG>agA p.R580R PCSK5_ENST00000376767.3_Silent_p.R580R|PCSK5_ENST00000376752.4_Silent_p.R580R NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 580 Homo B/P. 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 CTCAGCTAAGGAACTTTAAGA 0.423000 6 90 0 0 8.12818e-05 0 0 TRAV1-1 28693 broad.mit.edu 37 14 22090529 22090529 + RNA SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr14:22090529G>A ENST00000542354.1 + 0 201 AGACATCTGGGTTTTATGGGC 0.498000 14 101 0 0 0.000566183 0 0 GABRA3 2556 broad.mit.edu 37 X 151376473 151376473 + Splice_Site SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:151376473C>T ENST00000370314.4 - 7 1016 c.778_splice c.e7+1 p.G260_splice GABRA3_ENST00000370311.1_Splice_Site_p.G260_splice|GABRA3_ENST00000535043.1_Splice_Site_p.G260_splice NM_000808.3 NP_000799.1 P34903 GBRA3_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 3 260 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AGTTAAATACCTGTACTAGAC 0.378000 11 22 0 0 0.00010058 0 0 C10orf54 64115 broad.mit.edu 37 10 73511448 73511448 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:73511448C>T ENST00000394957.3 - 6 933 c.875G>A c.(874-876)gGa>gAa p.G292E CDH23_ENST00000224721.6_Intron NM_022153.1 NP_071436.1 Q9H7M9 GI24_HUMAN chromosome 10 open reading frame 54 292 integral to membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 9 GAAGACGTCTCCGGGGCCTGG 0.622000 12 48 0 0 0.000219431 0 0 TLL2 7093 broad.mit.edu 37 10 98138808 98138808 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:98138808C>T ENST00000357947.3 - 17 2461 c.2236G>A c.(2236-2238)Gag>Aag p.E746K NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 746 EGF-like 2; calcium-binding (Potential). cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) TTGACGCACTCATGCTGACAC 0.562000 24 121 0 0 0.000720815 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430974 37430974 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:37430974C>T ENST00000374660.1 + 7 1080 c.981C>T c.(979-981)atC>atT p.I327I ANKRD30A_ENST00000602533.1_Silent_p.I327I|ANKRD30A_ENST00000361713.1_Silent_p.I327I Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 383 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.I327I(1) 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 CTAGGAAGATCGCATGGGAGA 0.433000 12 88 0 0 0.00010058 0 0 GLG1 2734 broad.mit.edu 37 16 74542786 74542786 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:74542786G>A ENST00000422840.2 - 3 508 c.509C>T c.(508-510)cCc>cTc p.P170L GLG1_ENST00000205061.5_Missense_Mutation_p.P170L|GLG1_ENST00000447066.2_Missense_Mutation_p.P159L NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 170 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 TTCAAATTTGGGATCTGTAGT 0.333000 9 97 0 0 0.000442599 0 0 CTAGE9 643854 broad.mit.edu 37 6 132031725 132031725 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:132031725C>T ENST00000314099.8 - 1 481 c.433G>A c.(433-435)Gaa>Aaa p.E145K ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000358229.5_Intron NM_001145659.1|NM_001278507.1 NP_001139131.1|NP_001265436.1 A4FU28 CTGE9_HUMAN CTAGE family, member 9 145 integral to membrane endometrium(1)|lung(1) 2 CAGAGGATTTCATCCTCAAGT 0.403000 14 166 0 0 0.000566183 0 0 USH2A 7399 broad.mit.edu 37 1 215848644 215848644 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:215848644C>T ENST00000366943.2 - 63 12995 c.12609G>A c.(12607-12609)caG>caA p.Q4203Q USH2A_ENST00000307340.3_Silent_p.Q4203Q O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4203 Fibronectin type-III 27. 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) CCTGGATTGTCTGATTTCCCC 0.423000 HNSCC(13;0.011) 20 139 0 0 0.000175454 0 0 TRPM3 80036 broad.mit.edu 37 9 73477836 73477836 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:73477836G>A ENST00000377110.2 - 3 693 c.450C>T c.(448-450)tcC>tcT p.S150S TRPM3_ENST00000361823.5_5'UTR|TRPM3_ENST00000377101.1_5'UTR|TRPM3_ENST00000423814.3_Silent_p.S152S|TRPM3_ENST00000377097.3_5'UTR|TRPM3_ENST00000377105.1_5'UTR|TRPM3_ENST00000377106.1_5'UTR|TRPM3_ENST00000357533.2_Silent_p.S152S|TRPM3_ENST00000377111.2_Silent_p.S150S|TRPM3_ENST00000396283.1_5'UTR|TRPM3_ENST00000360823.2_5'UTR NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 150 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 TGGCTTTGTTGGAATGGCCAC 0.458000 13 61 0 0 0.000422831 0 0 DNAH7 56171 broad.mit.edu 37 2 196619143 196619143 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:196619143C>T ENST00000312428.6 - 63 11782 c.11682G>A c.(11680-11682)agG>agA p.R3894R DNAH7_ENST00000409063.1_Silent_p.R377R NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3894 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 TTGTGTATTTCCTGGCGTAGT 0.478000 9 61 0 0 0.000274275 0 0 KRT5 3852 broad.mit.edu 37 12 52911920 52911920 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:52911920G>A ENST00000252242.4 - 3 1188 c.798C>T c.(796-798)acC>acT p.T266T NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 266 Coil 1B.|Rod. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) TCTCAGCAGTGGTACGCTTGT 0.493000 13 153 0 0 0.000308642 0 0 DRD1 1812 broad.mit.edu 37 5 174868893 174868893 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:174868893C>T ENST00000393752.2 - 2 2202 c.1210G>A c.(1210-1212)Gag>Aag p.E404K NM_000794.3 NP_000785.1 P21728 DRD1_HUMAN dopamine receptor D1 404 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) GCTGCCTCCTCCTTTTTCAGG 0.542000 6 60 0 0 0.00116845 0 0 ZNF668 79759 broad.mit.edu 37 16 31073072 31073072 + Nonsense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:31073072G>A ENST00000417110.2 + 1 260 c.260G>A c.(259-261)tGg>tAg p.W87* ZNF668_ENST00000426488.2_Missense_Mutation_p.H416Y|ZNF668_ENST00000538906.1_Missense_Mutation_p.H393Y|ZNF668_ENST00000394983.2_Missense_Mutation_p.H393Y|ZNF668_ENST00000300849.4_Missense_Mutation_p.H393Y|ZNF668_ENST00000535577.1_Missense_Mutation_p.H393Y|ZNF668_ENST00000539836.3_Missense_Mutation_p.H416Y Q96K58 ZN668_HUMAN zinc finger protein 668 162 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 GCGTTACAGTGGAAGGGGCGC 0.667000 20 199 0 0 0.000375601 0 0 CCR5 1234 broad.mit.edu 37 3 46414444 46414444 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:46414444G>A ENST00000343801.4 + 3 408 c.51G>A c.(49-51)tcG>tcA p.S17S CCR5_ENST00000292303.4_Silent_p.S17S|RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000445772.1_Silent_p.S17S NM_000579.3 NP_000570.1 P51681 CCR5_HUMAN chemokine (C-C motif) receptor 5 (gene/pseudogene) 17 cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection endosome|external side of plasma membrane|integral to plasma membrane actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02) Maraviroc(DB04835) ATTATACATCGGAGCCCTGCC 0.428000 19 270 0 0 0.000958276 0 0 IQGAP2 10788 broad.mit.edu 37 5 75979727 75979727 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:75979727G>A ENST00000274364.6 + 30 4187 c.3890G>A c.(3889-3891)cGa>cAa p.R1297Q IQGAP2_ENST00000396234.3_Missense_Mutation_p.R793Q|IQGAP2_ENST00000502745.1_Missense_Mutation_p.R793Q|IQGAP2_ENST00000379730.3_Missense_Mutation_p.R799Q NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 1297 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) ATAGATAGCCGAAGCCTCATG 0.388000 4 35 0 0 0.000602214 0 0 NLRP9 338321 broad.mit.edu 37 19 56241279 56241279 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:56241279C>T ENST00000332836.2 - 3 1939 c.1912G>A c.(1912-1914)Gaa>Aaa p.E638K NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 638 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) CTGGTATTTTCCATGTCTAAA 0.423000 17 87 0 0 0.000566183 0 0 CLCN1 1180 broad.mit.edu 37 7 143029525 143029525 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:143029525C>T ENST00000343257.2 + 11 1267 c.1180C>T c.(1180-1182)Cct>Tct p.P394S NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 394 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) CCTGCTGTATCCTGGAATTGT 0.468000 14 93 0 0 0.000422831 0 0 PSG4 5672 broad.mit.edu 37 19 43699294 43699294 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:43699294G>A ENST00000405312.3 - 4 1078 c.841C>T c.(841-843)Cct>Tct p.P281S PSG4_ENST00000433626.2_Missense_Mutation_p.P188S|PSG4_ENST00000244295.9_Intron NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 281 Ig-like C2-type 2. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) GGACTGACAGGGAGGCTCTGA 0.443000 42 310 0 0 0.000781405 0 0 KCNK9 51305 broad.mit.edu 37 8 140630697 140630697 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:140630697C>T ENST00000520439.1 - 2 992 c.929G>A c.(928-930)cGc>cAc p.R310H KCNK9_ENST00000303015.1_Missense_Mutation_p.R310H Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 310 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity p.R310H(1) NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) TGCCACCGAGCGGCCGCCATA 0.622000 10 88 0 0 0.000673444 0 0 OR5K1 26339 broad.mit.edu 37 3 98188932 98188932 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:98188932C>T ENST00000332650.5 + 1 609 c.512C>T c.(511-513)tCg>tTg p.S171L NM_001004736.2 NP_001004736.2 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, member 1 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S171L(1) breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TTCTGTGGATCGAATCACATC 0.398000 26 73 0 0 0.00106085 0 0 FAT3 120114 broad.mit.edu 37 11 92523277 92523277 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:92523277G>A ENST00000298047.6 + 7 4521 c.4504G>A c.(4504-4506)Gac>Aac p.D1502N FAT3_ENST00000409404.2_Missense_Mutation_p.D1502N|FAT3_ENST00000525166.1_Missense_Mutation_p.D1352N Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1502 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) TAGCAGCATCGACTCCATCAG 0.507000 TCGA Ovarian(4;0.039) 48 320 0 0 0.000781405 0 0 SRRM2 23524 broad.mit.edu 37 16 2816169 2816169 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:2816169C>T ENST00000301740.8 + 11 6189 c.5640C>T c.(5638-5640)acC>acT p.T1880T NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 1880 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 GGTCCAGAACCCCCCTGATAA 0.597000 6 74 0 0 0.00116845 0 0 KCND2 3751 broad.mit.edu 37 7 120385937 120385937 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:120385937G>A ENST00000331113.4 + 5 2536 c.1571G>A c.(1570-1572)gGa>gAa p.G524E NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 524 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) TCACAACAAGGAGTCACCAGC 0.448000 7 54 0 0 0.000274275 0 0 OR4M2 390538 broad.mit.edu 37 15 22369154 22369154 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:22369154C>T ENST00000332663.2 + 1 677 c.579C>T c.(577-579)ttC>ttT p.F193F RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 193 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) CCAACACCTTCCCAGAGGAGT 0.473000 9 93 0 0 0.000978159 0 0 IGLV8-61 28774 broad.mit.edu 37 22 22453345 22453345 + RNA SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr22:22453345G>A ENST00000390283.2 + 0 137 GGTGACCCAGGAGCCATCGTT 0.517000 6 49 0 0 8.12818e-05 0 0 SYTL2 54843 broad.mit.edu 37 11 85445395 85445395 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:85445395G>A ENST00000316356.4 - 7 1541 c.977C>T c.(976-978)tCc>tTc p.S326F SYTL2_ENST00000527523.1_Missense_Mutation_p.S277F|SYTL2_ENST00000528231.1_Missense_Mutation_p.S325F|SYTL2_ENST00000389960.4_Missense_Mutation_p.S325F|SYTL2_ENST00000524452.1_Missense_Mutation_p.S325F Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 325 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding p.S326F(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) TGGCTCCAGGGAGTTTGGGGA 0.448000 14 120 0 0 0.000308642 0 0 SERPINA7 6906 broad.mit.edu 37 X 105280695 105280695 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:105280695G>A ENST00000327674.4 - 1 690 c.355C>T c.(355-357)Ctg>Ttg p.L119L SERPINA7_ENST00000372563.1_Silent_p.L119L P05543 THBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 119 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3) 24 Levothyroxine(DB00451)|Liothyronine(DB00279) GGAAAATTCAGTGAACAGATC 0.463000 12 33 0 0 0.000978159 0 0 PHC3 80012 broad.mit.edu 37 3 169846701 169846701 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:169846701G>A ENST00000494943.1 - 8 1591 c.1523C>T c.(1522-1524)tCt>tTt p.S508F PHC3_ENST00000495893.1_Missense_Mutation_p.S520F|PHC3_ENST00000467570.1_Missense_Mutation_p.S467F Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 508 Gln-rich.|Pro-rich. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) AGCTGGAGGAGATGTCGACAT 0.517000 23 66 0 0 0.000375601 0 0 CHD6 84181 broad.mit.edu 37 20 40052213 40052213 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:40052213C>T ENST00000373233.3 - 30 4651 c.4474G>A c.(4474-4476)Gat>Aat p.D1492N NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1492 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) AGGCTCTCATCCGACTTCTTG 0.433000 27 254 0 0 0.000878237 0 0 PHLDB2 90102 broad.mit.edu 37 3 111685508 111685508 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:111685508G>A ENST00000431670.2 + 14 3537 c.3126G>A c.(3124-3126)ttG>ttA p.L1042L PHLDB2_ENST00000481953.1_Silent_p.L999L|PHLDB2_ENST00000412622.1_Silent_p.L999L|PHLDB2_ENST00000470699.2_3'UTR|PHLDB2_ENST00000393923.3_Silent_p.L1026L|PHLDB2_ENST00000393925.3_Silent_p.L1042L|PHLDB2_ENST00000495180.1_Silent_p.L533L NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 1042 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 AGAGACTTTTGAAGCAGGCTC 0.463000 11 59 0 0 0.00010058 0 0 SIRPB1 10326 broad.mit.edu 37 20 1552569 1552569 + Nonsense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:1552569C>T ENST00000381605.4 - 3 612 c.548G>A c.(547-549)tGg>tAg p.W183* RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 183 Ig-like C1-type 1. 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 ATTTTTGAACCATTTCAGGGT 0.587000 11 94 0 0 0.000308642 0 0 TTN 7273 broad.mit.edu 37 2 179568985 179568985 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:179568985C>T ENST00000589042.1 - 106 30336 c.30112G>A c.(30112-30114)Gtg>Atg p.V10038M TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V8794M|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V9721M NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9721 Glu-rich. 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) TTGTGTTCCACTTCTGTTTTA 0.408000 9 88 0 0 0.000442599 0 0 DSCAM 1826 broad.mit.edu 37 21 41459101 41459101 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr21:41459101C>T ENST00000400454.1 - 22 4441 c.3964G>A c.(3964-3966)Gac>Aac p.D1322N NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1322 Ig-like C2-type 10. 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) GGTTACCTGTCTTTCATCCAT 0.448000 7 84 0 0 0.000157383 0 0 TDRD1 56165 broad.mit.edu 37 10 115947891 115947891 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:115947891G>A ENST00000251864.2 + 2 454 c.301G>A c.(301-303)Gga>Aga p.G101R TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000369282.1_Missense_Mutation_p.G101R|TDRD1_ENST00000369281.2_Missense_Mutation_p.G101R|TDRD1_ENST00000369280.1_Missense_Mutation_p.G101R NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 101 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 p.G101R(1) 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) TGGCTCCAAAGGAGACAGGAA 0.413000 27 95 0 0 0.000878237 0 0 PDE1B 5153 broad.mit.edu 37 12 54969376 54969376 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:54969376C>T ENST00000243052.3 + 12 1663 c.1227C>T c.(1225-1227)ctC>ctT p.L409L PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Silent_p.L368L|PDE1B_ENST00000550620.1_Silent_p.L389L NM_000924.3 NP_000915.1 Q01064 PDE1B_HUMAN phosphodiesterase 1B, calmodulin-dependent 409 Catalytic (By similarity). activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 TTTCTCCACTCTGTGACCGCA 0.572000 14 107 0 0 0.00074312 0 0 ABCC11 85320 broad.mit.edu 37 16 48244950 48244950 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:48244950C>T ENST00000394747.1 - 10 1866 c.1517G>A c.(1516-1518)gGg>gAg p.G506E ABCC11_ENST00000356608.2_Missense_Mutation_p.G506E|ABCC11_ENST00000537808.1_Missense_Mutation_p.G506E|ABCC11_ENST00000353782.5_Missense_Mutation_p.G506E|ABCC11_ENST00000394748.1_Missense_Mutation_p.G506E NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 506 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) CCTGGTCATCCCCTCAGAAGC 0.597000 12 59 0 0 0.00010058 0 0 APCS 325 broad.mit.edu 37 1 159558417 159558417 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:159558417C>T ENST00000255040.2 + 2 688 c.591C>T c.(589-591)ctC>ctT p.L197L NM_001639.3 NP_001630.1 P02743 SAMP_HUMAN amyloid P component, serum 197 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_hematologic(112;0.0429) GTACCCCTCTCCCTGCCAATA 0.507000 5 60 0 0 0.000602214 0 0 ENAH 55740 broad.mit.edu 37 1 225718287 225718287 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:225718287G>A ENST00000366844.2 - 4 854 c.403C>T c.(403-405)Cca>Tca p.P135S ENAH_ENST00000284563.6_Missense_Mutation_p.P154S|ENAH_ENST00000366843.2_Missense_Mutation_p.P135S|ENAH_ENST00000391874.2_5'UTR NM_001008493.1 NP_001008493.1 Q8N8S7 ENAH_HUMAN enabled homolog (Drosophila) 135 axon guidance|intracellular transport|T cell receptor signaling pathway cytosol|filopodium|focal adhesion|lamellipodium|synapse actin binding|SH3 domain binding|WW domain binding NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Breast(184;0.206) GBM - Glioblastoma multiforme(131;0.19) TCTTGGGATGGGCCATTTTGA 0.353000 12 149 0 0 0.000308642 0 0 ATP11A 23250 broad.mit.edu 37 13 113513726 113513726 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr13:113513726C>T ENST00000487903.1 + 23 2775 c.2687C>T c.(2686-2688)cCt>cTt p.P896L ATP11A_ENST00000375630.2_Missense_Mutation_p.P896L|ATP11A_ENST00000375645.3_Missense_Mutation_p.P896L|ATP11A_ENST00000283558.8_Missense_Mutation_p.P896L P98196 AT11A_HUMAN ATPase, class VI, type 11A 896 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) TTCATCTTCCCTCAGTTTTTA 0.547000 13 98 0 0 0.000308642 0 0 SNHG14 104472715 broad.mit.edu 37 15 25442574 25442574 + RNA SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:25442574G>A ENST00000424208.1 + 0 1550 SNHG14_ENST00000456576.1_RNA|SNHG14_ENST00000424333.1_RNA NR_003305.1 CTGGCCCCGGGAAAATGTCCC 0.602000 3 10 0 0 6.4e-05 0 0 AXL 558 broad.mit.edu 37 19 41754462 41754462 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:41754462G>A ENST00000301178.4 + 13 1771 c.1581G>A c.(1579-1581)cgG>cgA p.R527R AXL_ENST00000593513.1_Silent_p.R259R|AXL_ENST00000359092.3_Silent_p.R518R NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713.2 P30530 UFO_HUMAN AXL receptor tyrosine kinase 527 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 AGAAGCTGCGGGATGTGATGG 0.577000 4 64 0 0 8.12818e-05 0 0 ENPEP 2028 broad.mit.edu 37 4 111397993 111397993 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:111397993C>T ENST00000265162.5 + 1 765 c.423C>T c.(421-423)atC>atT p.I141I NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 141 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) AGACCAGGATCACCCGGCTCC 0.637000 16 136 0 0 0.000566183 0 0 ANK2 287 broad.mit.edu 37 4 114257035 114257035 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:114257035G>A ENST00000357077.4 + 30 3466 c.3413G>A c.(3412-3414)cGa>cAa p.R1138Q ANK2_ENST00000509550.1_Missense_Mutation_p.R314Q|ANK2_ENST00000506722.1_Missense_Mutation_p.R1129Q|ANK2_ENST00000394537.3_Missense_Mutation_p.R1138Q|ANK2_ENST00000264366.6_Missense_Mutation_p.R1105Q NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1105 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) GAAAAGAAACGAATCTGCCGC 0.458000 14 69 0 0 0.000219431 0 0 MUC16 94025 broad.mit.edu 37 19 9089598 9089598 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:9089598C>T ENST00000397910.4 - 1 2420 c.2217G>A c.(2215-2217)gcG>gcA p.A739A NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 739 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 ATGTGCTGGTCGCTGACACTT 0.493000 19 113 0 0 0.000295444 0 0 NKAPL 222698 broad.mit.edu 37 6 28227578 28227578 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:28227578C>T ENST00000343684.3 + 1 481 c.429C>T c.(427-429)ttC>ttT p.F143F NM_001007531.1 NP_001007532.1 Q5M9Q1 NKAPL_HUMAN NFKB activating protein-like 143 breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 CTCCAAAGTTCCCTCAGCTAG 0.517000 20 199 0 0 0.000295444 0 0 CATSPER2P1 440278 broad.mit.edu 37 15 44028410 44028410 + RNA SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:44028410G>A ENST00000381680.2 - 0 1374 NR_002318.2 ATTGTGCAAGGAGTTTGAGAG 0.512000 20 199 0 0 0.000295444 0 0 MYH4 4622 broad.mit.edu 37 17 10362664 10362664 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:10362664G>A ENST00000255381.2 - 15 1601 c.1491C>T c.(1489-1491)ttC>ttT p.F497F CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 497 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 GCTCCAGCACGAACATGTGGT 0.483000 12 124 0 0 0.000151284 0 0 ZNF234 10780 broad.mit.edu 37 19 44660662 44660662 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:44660662C>T ENST00000426739.2 + 6 751 c.493C>T c.(493-495)Ctt>Ttt p.L165F ZNF234_ENST00000592437.1_Missense_Mutation_p.L165F NM_006630.2 NP_006621.1 Q14588 ZN234_HUMAN zinc finger protein 234 165 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1) 23 Prostate(69;0.0435) CAACTTTGATCTTCATCAACA 0.398000 7 70 0 0 0.000157383 0 0 GPR26 2849 broad.mit.edu 37 10 125447529 125447529 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:125447529C>T ENST00000284674.1 + 3 920 c.867C>T c.(865-867)tcC>tcT p.S289S NM_153442.3 NP_703143.1 Q8NDV2 GPR26_HUMAN G protein-coupled receptor 26 289 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 20 Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226) AGGCCGCATCCGACCCCTTTG 0.602000 11 84 0 0 0.000978159 0 0 XCR1 2829 broad.mit.edu 37 3 46063436 46063436 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:46063436C>T ENST00000309285.3 - 2 360 c.4G>A c.(4-6)Gag>Aag p.E2K XCR1_ENST00000542109.1_Missense_Mutation_p.E2K NM_001024644.1 NP_001019815.1 P46094 XCR1_HUMAN chemokine (C motif) receptor 1 2 chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response integral to plasma membrane chemokine receptor activity NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2) 14 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) CCTGAGGACTCCATCTGGACC 0.522000 13 54 0 0 0.000219431 0 0 TMEM132D 121256 broad.mit.edu 37 12 129559208 129559208 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:129559208C>T ENST00000422113.2 - 9 2838 c.2512G>A c.(2512-2514)Gaa>Aaa p.E838K TMEM132D_ENST00000389441.4_Missense_Mutation_p.E376K NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 838 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) TACTGTCCTTCCTGACTCCCC 0.542000 5 72 0 0 0.000602214 0 0 OR51E1 143503 broad.mit.edu 37 11 4674628 4674628 + Nonsense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:4674628C>T ENST00000530215.1 + 2 243 c.202C>T c.(202-204)Caa>Taa p.Q68* OR51E1_ENST00000396952.5_Missense_Mutation_p.P291L Q8TCB6 O51E1_HUMAN olfactory receptor, family 51, subfamily E, member 1 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2) 30 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19) GTGCTCAACCCAATTGTCTAT 0.512000 12 88 0 0 0.000151284 0 0 ZC3H12C 85463 broad.mit.edu 37 11 110030084 110030084 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:110030084C>T ENST00000453089.2 + 3 1805 c.924C>T c.(922-924)atC>atT p.I308I ZC3H12C_ENST00000528673.1_Silent_p.I340I|ZC3H12C_ENST00000278590.3_Silent_p.I339I Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 339 endonuclease activity|nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) ACAGGTTCATCGTGAAGCTGG 0.468000 7 31 0 0 0.000274275 0 0 KCNQ3 3786 broad.mit.edu 37 8 133192440 133192440 + Nonsense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:133192440C>T ENST00000388996.4 - 4 1161 c.741G>A c.(739-741)tgG>tgA p.W247* KCNQ3_ENST00000519445.1_Nonsense_Mutation_p.W247*|KCNQ3_ENST00000521134.1_Nonsense_Mutation_p.W127* NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 247 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CCAGAAGCTTCCAGGTGCCAC 0.597000 7 113 0 0 0.000157383 0 0 CEACAM20 125931 broad.mit.edu 37 19 45015211 45015211 + RNA SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:45015211C>T ENST00000454753.1 - 0 1893 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion molecule 20 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) AAGGCAGCTTCGTCTGCAAGT 0.532000 32 270 0 0 0.000491102 0 0 JAG1 182 broad.mit.edu 37 20 10626702 10626702 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:10626702C>T ENST00000254958.5 - 15 2431 c.1916G>A c.(1915-1917)aGa>aAa p.R639K JAG1_ENST00000488480.1_RNA|JAG1_ENST00000423891.2_Missense_Mutation_p.R480K NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 639 EGF-like 11; calcium-binding (Potential). angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 GCCACCGTTTCTACAAGGGTT 0.463000 Alagille Syndrome 11 107 0 0 0.000978159 0 0 STARD6 147323 broad.mit.edu 37 18 51855788 51855788 + Missense_Mutation SNP T T A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr18:51855788T>A ENST00000581310.1 - 8 781 c.408A>T c.(406-408)gaA>gaT p.E136D STARD6_ENST00000580990.2_Intron|STARD6_ENST00000307844.3_Missense_Mutation_p.E136D P59095 STAR6_HUMAN StAR-related lipid transfer (START) domain containing 6 136 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) ATGGAGGATATTCTGGAAAAT 0.313000 26 183 0 0 0.000586117 0 0 IGKV2D-29 28882 broad.mit.edu 37 2 89986961 89986961 + RNA SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:89986961C>T ENST00000491977.1 + 0 272 AACCGGTTCTCTGGAGTGCCA 0.517000 7 39 0 0 0.000157383 0 0 KIRREL2 84063 broad.mit.edu 37 19 36349648 36349648 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:36349648C>T ENST00000360202.5 + 4 602 c.404C>T c.(403-405)tCt>tTt p.S135F KIRREL2_ENST00000586102.2_Missense_Mutation_p.S135F|KIRREL2_ENST00000592409.1_Missense_Mutation_p.S135F|KIRREL2_ENST00000347900.6_Missense_Mutation_p.S85F|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Missense_Mutation_p.S135F NM_032123.5|NM_199180.2 NP_115499.4|NP_954649.2 Q6UWL6 KIRR2_HUMAN kin of IRRE like 2 (Drosophila) 135 Ig-like C2-type 2. cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 48 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) CCCTCTGTGTCTCTGGTTGCT 0.602000 10 81 0 0 0.000442599 0 0 KCND2 3751 broad.mit.edu 37 7 119915622 119915622 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:119915622C>T ENST00000331113.4 + 1 1901 c.936C>T c.(934-936)atC>atT p.I312I NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 312 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) GCCTGCGCATCCTGGGGTACA 0.512000 9 51 0 0 0.000274275 0 0 MYO5B 4645 broad.mit.edu 37 18 47431107 47431107 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr18:47431107G>A ENST00000285039.7 - 20 2805 c.2506C>T c.(2506-2508)Cgc>Tgc p.R836C NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 836 Arg-rich.|IQ 3. 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) GCAGCTCTGCGGACCCTCTGG 0.642000 11 83 0 0 0.000673444 0 0 ABCB7 22 broad.mit.edu 37 X 74296471 74296471 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:74296471G>A ENST00000253577.3 - 5 499 c.475C>T c.(475-477)Ccc>Tcc p.P159S ABCB7_ENST00000373394.3_Missense_Mutation_p.P158S|ABCB7_ENST00000339447.4_Missense_Mutation_p.P118S NM_001271696.1|NM_004299.3 NP_001258625.1|NP_004290.2 O75027 ABCB7_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 7 158 ABC transmembrane type-1. cellular iron ion homeostasis integral to membrane|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1) 20 AACATGAAGGGAACCACAATA 0.348000 6 13 0 0 8.12818e-05 0 0 OR11H6 122748 broad.mit.edu 37 14 20692721 20692721 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr14:20692721C>T ENST00000315519.2 + 1 931 c.853C>T c.(853-855)Cca>Tca p.P285S NM_001004480.1 NP_001004480.1 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, member 6 285 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) ATCAGGGAACCCAGCAGGAAT 0.438000 7 58 0 0 8.12818e-05 0 0 FLII 2314 broad.mit.edu 37 17 18155806 18155806 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:18155806G>A ENST00000327031.4 - 10 1303 c.1078C>T c.(1078-1080)Cat>Tat p.H360Y FLII_ENST00000545457.2_Missense_Mutation_p.H306Y|FLII_ENST00000379450.4_Missense_Mutation_p.H275Y|FLII_ENST00000579294.1_Missense_Mutation_p.H349Y|FLII_ENST00000578558.1_Missense_Mutation_p.H360Y NM_002018.3 NP_002009.1 Q13045 FLII_HUMAN flightless I homolog (Drosophila) 360 Interaction with LRRFIP1 and LRRFIP2. multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_neural(463;0.228) GTCAGGAAATGGATGGCTTCT 0.597000 9 101 0 0 0.000442599 0 0 TG 7038 broad.mit.edu 37 8 134031930 134031930 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:134031930C>T ENST00000220616.4 + 39 6906 c.6866C>T c.(6865-6867)cCt>cTt p.P2289L TG_ENST00000377869.1_Missense_Mutation_p.P2232L|TG_ENST00000542445.1_Missense_Mutation_p.P659L|TG_ENST00000519543.1_Missense_Mutation_p.P422L NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2289 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) GTGTTCATCCCTCAGAATGTG 0.517000 8 87 0 0 0.000274275 0 0 BTNL9 153579 broad.mit.edu 37 5 180475174 180475174 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:180475174G>A ENST00000327705.9 + 3 588 c.357G>A c.(355-357)caG>caA p.Q119Q BTNL9_ENST00000515271.1_Silent_p.Q50Q|BTNL9_ENST00000376842.3_Silent_p.Q119Q|BTNL9_ENST00000376841.2_Silent_p.Q119Q NM_152547.4 NP_689760.2 Q6UXG8 BTNL9_HUMAN butyrophilin-like 9 119 Ig-like V-type. integral to membrane breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1) 19 all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGGTCCTGCAGCTTCACAGCA 0.602000 6 39 0 0 0.00116845 0 0 ZNF586 54807 broad.mit.edu 37 19 58290215 58290215 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:58290215C>T ENST00000391702.3 + 4 498 c.131C>T c.(130-132)cCt>cTt p.P44L ZNF586_ENST00000396150.4_Missense_Mutation_p.L45F|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000396154.2_Missense_Mutation_p.P87L NM_001204814.1 NP_001191743.1 Q9NXT0 ZN586_HUMAN zinc finger protein 586 87 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1) 15 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GGAGAAAGGCCTTATGAGTGT 0.453000 13 80 0 0 0.000151284 0 0 WDR96 80217 broad.mit.edu 37 10 105893468 105893468 + Nonsense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:105893468C>T ENST00000357060.3 - 35 4621 c.4506G>A c.(4504-4506)tgG>tgA p.W1502* WDR96_ENST00000479392.1_5'UTR|WDR96_ENST00000428666.1_Nonsense_Mutation_p.W1474* NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 1502 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TCTTATGTTCCCACTCAATCT 0.338000 11 50 0 0 0.000673444 0 0 OR2AK2 391191 broad.mit.edu 37 1 248128816 248128816 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:248128816C>T ENST00000366480.3 + 1 282 c.183C>T c.(181-183)atC>atT p.I61I OR2L13_ENST00000366478.2_Intron NM_001004491.1 NP_001004491.1 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, member 2 61 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 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) TCATGCTGATCCACCTCATTC 0.463000 8 201 0 0 0.000442599 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138174 126138174 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:126138174G>A ENST00000299308.3 + 9 2163 c.2155G>A c.(2155-2157)Gat>Aat p.D719N TMEM132B_ENST00000535886.1_Missense_Mutation_p.D231N NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 719 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) AGACATTTACGATCCTAAGGA 0.403000 10 123 0 0 0.000978159 0 0 LIN28B 389421 broad.mit.edu 37 6 105405976 105405976 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:105405976G>A ENST00000345080.4 + 2 216 c.13G>A c.(13-15)Ggg>Agg p.G5R NM_001004317.3 NP_001004317.1 Q6ZN17 LN28B_HUMAN lin-28 homolog B (C. elegans) 5 miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing cytoplasm|nucleus DNA binding|protein binding|RNA binding|zinc ion binding large_intestine(1)|lung(10)|ovary(1) 12 all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204) CTTCTCAGGCGGGGCTAGCAA 0.517000 11 93 0 0 0.000978159 0 0 MYO5A 4644 broad.mit.edu 37 15 52605957 52605957 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:52605957G>A ENST00000399231.3 - 41 5747 c.5504C>T c.(5503-5505)tCc>tTc p.S1835F MYO5A_ENST00000358212.6_Missense_Mutation_p.S1860F|MYO5A_ENST00000553916.1_Missense_Mutation_p.S1833F|MYO5A_ENST00000399233.2_Missense_Mutation_p.S1832F|MYO5A_ENST00000356338.6_Missense_Mutation_p.S1808F NM_000259.3 NP_000250.3 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 1835 actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) TAGTGCGAGGGAAGATGGGTT 0.473000 6 97 0 0 8.12818e-05 0 0 BAZ1A 11177 broad.mit.edu 37 14 35224118 35224118 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr14:35224118G>A ENST00000360310.1 - 26 4956 c.4389C>T c.(4387-4389)gtC>gtT p.V1463V BAZ1A_ENST00000382422.2_Silent_p.V1463V|BAZ1A_ENST00000358716.4_Silent_p.V1431V NM_013448.2 NP_038476.2 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 1463 Bromo. chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) AGTAGTCTGGGACCTGTAAAA 0.294000 6 43 0 0 8.12818e-05 0 0 EMC8 10328 broad.mit.edu 37 16 85814035 85814035 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:85814035G>A ENST00000253457.3 - 4 667 c.423C>T c.(421-423)atC>atT p.I141I EMC8_ENST00000435200.2_Intron NM_006067.4 NP_006058.1 ER membrane protein complex subunit 8 CGTACACGTGGATCGTAGGCG 0.607000 7 45 0 0 0.000274275 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140730519 140730519 + Missense_Mutation SNP A A C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:140730519A>C ENST00000523390.1 + 1 692 c.692A>C c.(691-693)gAt>gCt p.D231A PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGAGTTACGGATGCCAATGAT 0.562000 6 69 0 0 0.000274275 0 0 MYH13 8735 broad.mit.edu 37 17 10209805 10209805 + Nonsense_Mutation SNP T T A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:10209805T>A ENST00000418404.3 - 36 5600 c.5437A>T c.(5437-5439)Aag>Tag p.K1813* MYH13_ENST00000570743.1_Nonsense_Mutation_p.K1813*|MYH13_ENST00000252172.4_Nonsense_Mutation_p.K1813* Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1813 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 ATCTGCTTCTTCCCGCCCTTC 0.547000 16 231 0 0 0.000375601 0 0 RASGRF1 5923 broad.mit.edu 37 15 79317774 79317774 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:79317774G>A ENST00000419573.3 - 10 1698 c.1424C>T c.(1423-1425)aCc>aTc p.T475I RASGRF1_ENST00000558480.2_Missense_Mutation_p.T475I|RASGRF1_ENST00000560334.1_5'UTR NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 475 PH 2. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GCGCCCCCTGGTGATCTTGCC 0.567000 11 92 0 0 0.000978159 0 0 UBQLN3 50613 broad.mit.edu 37 11 5529638 5529638 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:5529638G>A ENST00000311659.4 - 2 1298 c.1151C>T c.(1150-1152)tCa>tTa p.S384L HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 384 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGATGAGGGTGACGATGGGGG 0.577000 17 154 0 0 0.00074312 0 0 C4orf17 84103 broad.mit.edu 37 4 100460493 100460493 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:100460493C>T ENST00000514652.1 + 7 1156 c.802C>T c.(802-804)Ctg>Ttg p.L268L C4orf17_ENST00000326581.4_Silent_p.L268L Q53FE4 CD017_HUMAN chromosome 4 open reading frame 17 268 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3) 18 OV - Ovarian serous cystadenocarcinoma(123;2.08e-08) ATCAAAAGTGCTGACCAGAGA 0.463000 9 35 0 0 0.000673444 0 0 CCDC170 80129 broad.mit.edu 37 6 151865752 151865752 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:151865752G>A ENST00000367290.5 + 4 578 c.489G>A c.(487-489)aaG>aaA p.K163K CCDC170_ENST00000239374.7_Silent_p.K163K|CCDC170_ENST00000544131.1_3'UTR Q8IYT3 CF097_HUMAN coiled-coil domain containing 170 163 AAGTTTCAAAGAATTGCAGGA 0.348000 7 37 0 0 8.12818e-05 0 0 MYH13 8735 broad.mit.edu 37 17 10258014 10258014 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:10258014C>T ENST00000418404.3 - 10 1151 c.988G>A c.(988-990)Gaa>Aaa p.E330K MYH13_ENST00000570743.1_Missense_Mutation_p.E330K|MYH13_ENST00000252172.4_Missense_Mutation_p.E330K Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 330 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity p.E330K(2) 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 GCCAGCAGTTCTTCACTGTCA 0.463000 12 114 0 0 0.000151284 0 0 AOX1 316 broad.mit.edu 37 2 201485923 201485923 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:201485923C>T ENST00000374700.2 + 18 2196 c.1955C>T c.(1954-1956)tCc>tTc p.S652F AOX1_ENST00000485106.1_3'UTR NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 652 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) GACGTCAACTCCTTCTGCTTT 0.413000 13 99 0 0 0.00010058 0 0 DNAH8 1769 broad.mit.edu 37 6 38950197 38950197 + Nonsense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:38950197C>T ENST00000359357.3 + 84 12513 c.12259C>T c.(12259-12261)Cag>Tag p.Q4087* DNAH8_ENST00000441566.1_Nonsense_Mutation_p.Q4051* 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 AGCCAGTGTTCAGTTTATTCA 0.363000 11 93 0 0 0.000978159 0 0 LPPR1 54886 broad.mit.edu 37 9 104048436 104048436 + Silent SNP C C A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:104048436C>A ENST00000374874.3 + 4 742 c.303C>A c.(301-303)tcC>tcA p.S101S LPPR1_ENST00000395056.2_Silent_p.S101S NM_207299.1 NP_997182.1 Q8TBJ4 LPPR1_HUMAN 101 integral to membrane catalytic activity CAAGAGAATCCCTGATTGCTC 0.383000 7 55 8.12818e-05 0.000672447 8.12818e-05 1 0 TANC2 26115 broad.mit.edu 37 17 61498732 61498732 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:61498732C>T ENST00000424789.2 + 25 5393 c.5389C>T c.(5389-5391)Ccg>Tcg p.P1797S RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.P1807S NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 1797 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 CAACCTAACTCCGACCTTCCG 0.542000 4 28 0 0 0.000602214 0 0 IL12RB1 3594 broad.mit.edu 37 19 18192971 18192971 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:18192971G>A ENST00000600835.1 - 4 531 c.228C>T c.(226-228)ttC>ttT p.F76F IL12RB1_ENST00000322153.6_Silent_p.F76F|IL12RB1_ENST00000593993.1_Silent_p.F76F|IL12RB1_ENST00000430026.2_Silent_p.F76F P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 76 Fibronectin type-III 1. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 AACACCGCAGGAAGTGGCTGA 0.602000 4 23 0 0 0.00024832 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36278928 36278928 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:36278928C>T ENST00000007510.4 + 21 3605 c.3461C>T c.(3460-3462)gCc>gTc p.A1154V ARHGAP33_ENST00000378944.5_Missense_Mutation_p.A990V|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.A993V O14559 RHG33_HUMAN Rho GTPase activating protein 33 1154 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 GGCTACTCAGCCCCCCAGCAC 0.662000 7 37 0 0 0.000157383 0 0 SLC9C2 284525 broad.mit.edu 37 1 173569289 173569289 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:173569289G>A ENST00000367714.3 - 3 617 c.195C>T c.(193-195)ttC>ttT p.F65F RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Intron NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 65 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity GTCCTATCACGAATCCTGATA 0.343000 8 91 0 0 0.000442599 0 0 ZNF229 7772 broad.mit.edu 37 19 44933110 44933110 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:44933110G>A ENST00000291187.4 - 6 2150 c.1828C>T c.(1828-1830)Ctt>Ttt p.L610F ZNF229_ENST00000588931.1_Missense_Mutation_p.L616F|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 616 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) TGATGGATAAGGAGGTCGGAG 0.537000 5 86 0 0 8.12818e-05 0 0 COG1 9382 broad.mit.edu 37 17 71189274 71189274 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:71189274C>T ENST00000299886.4 + 1 146 c.66C>T c.(64-66)ttC>ttT p.F22F RP11-143K11.5_ENST00000580671.1_RNA NM_018714.2 NP_061184.1 Q8WTW3 COG1_HUMAN component of oligomeric golgi complex 1 22 Golgi organization|intra-Golgi vesicle-mediated transport|protein transport Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 LUSC - Lung squamous cell carcinoma(166;0.197) CGGCTCTTTTCGAGACGCATG 0.677000 9 14 0 0 0.000442599 0 0 PROKR2 128674 broad.mit.edu 37 20 5294996 5294996 + Missense_Mutation SNP T T C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:5294996T>C ENST00000546004.1 - 2 266 c.20A>G c.(19-21)aAc>aGc p.N7S PROKR2_ENST00000217270.3_Missense_Mutation_p.N7S Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 7 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 GAAACTGGTGTTTCCATTCTG 0.512000 HNSCC(71;0.22) 9 92 0 0 0.000978159 0 0 VPS13B 157680 broad.mit.edu 37 8 100871677 100871677 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:100871677G>A ENST00000358544.2 + 57 11199 c.11088G>A c.(11086-11088)ggG>ggA p.G3696G VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.G3671G NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3696 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) TCTCCAGAGGGACCACATCGT 0.522000 7 75 0 0 0.000673444 0 0 ENTPD3 956 broad.mit.edu 37 3 40456291 40456291 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:40456291G>A ENST00000301825.3 + 6 675 c.557G>A c.(556-558)gGa>gAa p.G186E ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000445129.1_Missense_Mutation_p.G186E|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3_ENST00000456402.1_Missense_Mutation_p.G186E|ENTPD3-AS1_ENST00000439293.1_RNA NM_001248.2 NP_001239.2 O75355 ENTP3_HUMAN ectonucleoside triphosphate diphosphohydrolase 3 186 integral to membrane ATP binding|hydrolase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758) GGGGTATATGGATGGATTACA 0.418000 18 186 0 0 0.000175454 0 0 FSTL5 56884 broad.mit.edu 37 4 162376222 162376222 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:162376222C>T ENST00000306100.5 - 15 2211 c.1775G>A c.(1774-1776)gGa>gAa p.G592E FSTL5_ENST00000427802.2_Missense_Mutation_p.G582E|FSTL5_ENST00000379164.4_Missense_Mutation_p.G591E|FSTL5_ENST00000536695.1_Missense_Mutation_p.G591E NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 592 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) AAATTGCTTTCCCACTGGTTG 0.438000 4 32 0 0 0.000602214 0 0 OR1N2 138882 broad.mit.edu 37 9 125315671 125315671 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:125315671C>T ENST00000373688.2 + 1 281 c.223C>T c.(223-225)Ccc>Tcc p.P75S NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 75 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 CCTCCATACTCCCATGTACTT 0.507000 16 137 0 0 0.000566183 0 0 CHL1 10752 broad.mit.edu 37 3 391091 391091 + Missense_Mutation SNP G G C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:391091G>C ENST00000256509.2 + 10 1540 c.898G>C c.(898-900)Ggg>Cgg p.G300R CHL1_ENST00000397491.2_Missense_Mutation_p.G284R NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 284 Ig-like C2-type 3. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) CTTACCAAAGGGGAGAGAAAC 0.368000 6 27 0 0 0.00116845 0 0 CCDC135 84229 broad.mit.edu 37 16 57738800 57738800 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:57738800G>A ENST00000360716.3 + 7 933 c.712G>A c.(712-714)Gag>Aag p.E238K CCDC135_ENST00000336825.8_Missense_Mutation_p.E173K|CCDC135_ENST00000394337.4_Missense_Mutation_p.E238K Q8IY82 CC135_HUMAN coiled-coil domain containing 135 238 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 CATCAAGAAGGAGGAAAAGGT 0.547000 6 41 0 0 8.12818e-05 0 0 LMO7 4008 broad.mit.edu 37 13 76393596 76393596 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr13:76393596G>A ENST00000357063.3 + 14 3548 c.2288G>A c.(2287-2289)aGa>aAa p.R763K LMO7_ENST00000341547.4_Missense_Mutation_p.R429K|LMO7_ENST00000321797.8_Missense_Mutation_p.R478K|LMO7_ENST00000377534.3_Missense_Mutation_p.R763K|LMO7_ENST00000465261.2_Missense_Mutation_p.R478K|LMO7_ENST00000526202.1_Missense_Mutation_p.R328K Q8WWI1 LMO7_HUMAN LIM domain 7 763 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) AAAGAAGAGAGAGAAGAAATT 0.423000 9 70 0 0 0.000274275 0 0 CEP97 79598 broad.mit.edu 37 3 101483907 101483907 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:101483907C>T ENST00000341893.3 + 11 2862 c.2110C>T c.(2110-2112)Cat>Tat p.H704Y CEP97_ENST00000327230.4_Missense_Mutation_p.H730Y|CEP97_ENST00000494050.1_Missense_Mutation_p.H645Y Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 704 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 CTCTGGTTTTCATTCCTCTCT 0.398000 7 97 0 0 0.000157383 0 0 VCPKMT 79609 broad.mit.edu 37 14 50583133 50583133 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr14:50583133G>A ENST00000395860.2 - 1 142 c.138C>T c.(136-138)gcC>gcT p.A46A METTL21D_ENST00000395859.2_Silent_p.A46A NM_024558.2 NP_078834.2 Q9H867 MT21D_HUMAN 46 methyltransferase activity kidney(1)|lung(1)|urinary_tract(1) 3 AAAGGACAATGGCAGCGTCCC 0.617000 5 31 0 0 0.000602214 0 0 MYBPC2 4606 broad.mit.edu 37 19 50958895 50958895 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:50958895G>A ENST00000357701.5 + 20 2383 c.2332G>A c.(2332-2334)Gaa>Aaa p.E778K NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 778 Fibronectin type-III 2. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) GTACTGCCTGGAAGGCTGTGA 0.597000 4 39 0 0 0.00024832 0 0 APBB1IP 54518 broad.mit.edu 37 10 26792132 26792132 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:26792132G>A ENST00000376236.4 + 6 915 c.460G>A c.(460-462)Gaa>Aaa p.E154K NM_019043.3 NP_061916.3 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 154 Poly-Glu. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 CCAGGAAGAGGAAGAAGCCCA 0.433000 10 112 0 0 0.000442599 0 0 ATP8A2 51761 broad.mit.edu 37 13 26127989 26127989 + Missense_Mutation SNP T T A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr13:26127989T>A ENST00000381655.2 + 12 1258 c.1116T>A c.(1114-1116)aaT>aaA p.N372K ATP8A2_ENST00000255283.8_Missense_Mutation_p.N332K NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 332 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) TATACAACAATCTTATTCCCA 0.393000 12 103 0 0 0.000151284 0 0 TMC5 79838 broad.mit.edu 37 16 19455440 19455440 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:19455440C>T ENST00000396229.2 + 4 1575 c.826C>T c.(826-828)Cgt>Tgt p.R276C TMC5_ENST00000381414.4_Missense_Mutation_p.R276C|TMC5_ENST00000542583.2_Missense_Mutation_p.R276C|TMC5_ENST00000541464.1_Missense_Mutation_p.R276C NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 276 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 GCCCTCATTTCGTCACAGGAG 0.463000 7 80 0 0 8.12818e-05 0 0 ZUFSP 221302 broad.mit.edu 37 6 116988271 116988271 + Missense_Mutation SNP T T A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:116988271T>A ENST00000368576.3 - 2 328 c.85A>T c.(85-87)Att>Ttt p.I29F ZUFSP_ENST00000471919.1_Intron|ZUFSP_ENST00000368573.1_Missense_Mutation_p.I29F NM_145062.2 NP_659499.2 Q96AP4 ZUFSP_HUMAN zinc finger with UFM1-specific peptidase domain 29 intracellular zinc ion binding NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186) GGACATATAATTTCACTTTCC 0.353000 19 93 0 0 0.00074312 0 0 FASTKD5 60493 broad.mit.edu 37 20 3127433 3127433 + Missense_Mutation SNP A A G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:3127433A>G ENST00000380266.3 - 2 2605 c.2284T>C c.(2284-2286)Tct>Cct p.S762P UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron NM_021826.4 NP_068598.1 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 762 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2) 19 CAGAGAGCAGAGGTGAATACT 0.428000 15 111 0 0 0.000958276 0 0 PLCE1 51196 broad.mit.edu 37 10 95791744 95791744 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:95791744C>T ENST00000260766.3 + 2 1575 c.941C>T c.(940-942)gCt>gTt p.A314V PLCE1_ENST00000371380.2_Missense_Mutation_p.A314V NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 314 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) GAAGAAGACGCTTTTAAAAGC 0.378000 17 65 0 0 0.000958276 0 0 TRPC7 57113 broad.mit.edu 37 5 135692530 135692530 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:135692530G>A ENST00000513104.1 - 2 828 c.546C>T c.(544-546)atC>atT p.I182I TRPC7_ENST00000355180.3_Silent_p.I182I|TRPC7_ENST00000426057.2_Silent_p.I182I NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 182 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TGAGCAGCAGGATGTGCACGA 0.607000 10 172 0 0 0.000219431 0 0 TIMM21 29090 broad.mit.edu 37 18 71816207 71816207 + Missense_Mutation SNP G G C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr18:71816207G>C ENST00000580087.1 + 1 450 c.164G>C c.(163-165)aGa>aCa p.R55T TIMM21_ENST00000169551.6_Missense_Mutation_p.R55T Q9BVV7 TI21L_HUMAN translocase of inner mitochondrial membrane 21 homolog (yeast) 55 protein transport|transmembrane transport integral to membrane|mitochondrial membrane p.R55T(1) CTGCGACCTAGATGTATTCTT 0.493000 15 201 0 0 0.000566183 0 0 DNAH5 1767 broad.mit.edu 37 5 13714630 13714630 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:13714630G>A ENST00000265104.4 - 75 13113 c.13009C>T c.(13009-13011)Cta>Tta p.L4337L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4337 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) TGGATGCCTAGGATGGTGTCC 0.612000 Kartagener syndrome 9 75 0 0 0.000274275 0 0 PKD1L1 168507 broad.mit.edu 37 7 47925346 47925346 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:47925346G>A ENST00000289672.2 - 18 3193 c.3143C>T c.(3142-3144)tCc>tTc p.S1048F NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1048 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 AGTCATCAGGGATCCCTTGCT 0.597000 8 89 0 0 0.000157383 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47564786 47564786 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:47564786C>T ENST00000334194.3 + 8 900 c.897C>T c.(895-897)ttC>ttT p.F299F CYP4A22-AS1_ENST00000444042.2_lincRNA NM_178134.2 NP_835235.1 Q86W10 CP4Z1_HUMAN cytochrome P450, family 4, subfamily Z, polypeptide 1 299 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 CCAAAGATTTCTCTGAAGCAG 0.388000 20 81 0 0 0.000375601 0 0 DMBT1 1755 broad.mit.edu 37 10 124402872 124402872 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:124402872C>T ENST00000338354.3 + 53 7306 c.7200C>T c.(7198-7200)atC>atT p.I2400I DMBT1_ENST00000330163.4_Silent_p.I1772I|DMBT1_ENST00000359586.6_Silent_p.I1120I|DMBT1_ENST00000368955.3_Silent_p.I2390I|DMBT1_ENST00000344338.3_Silent_p.I2390I|DMBT1_ENST00000368956.2_Silent_p.I1772I|DMBT1_ENST00000368909.3_Silent_p.I2400I Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2400 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGGGTCCCATCCAGCTGCAGA 0.647000 13 34 0 0 0.000219431 0 0 CLDN16 10686 broad.mit.edu 37 3 190120204 190120204 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:190120204G>A ENST00000264734.2 + 2 651 c.403G>A c.(403-405)Gat>Aat p.D135N CLDN16_ENST00000456423.1_Intron|CLDN16_ENST00000468220.1_3'UTR NM_006580.3 NP_006571.1 Q9Y5I7 CLD16_HUMAN claudin 16 135 calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion integral to membrane|tight junction identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1) 19 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.018) TGATGAGTACGATTCCATACT 0.493000 21 117 0 0 0.000295444 0 0 GAL3ST1 9514 broad.mit.edu 37 22 30951492 30951492 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr22:30951492C>T ENST00000402321.1 - 3 1037 c.720G>A c.(718-720)ctG>ctA p.L240L GAL3ST1_ENST00000406361.1_Silent_p.L240L|GAL3ST1_ENST00000401975.1_Silent_p.L240L|GAL3ST1_ENST00000406955.1_Silent_p.L240L|GAL3ST1_ENST00000443111.2_Silent_p.L240L|GAL3ST1_ENST00000338911.5_Silent_p.L240L|GAL3ST1_ENST00000402369.1_Silent_p.L240L Q99999 G3ST1_HUMAN galactose-3-O-sulfotransferase 1 240 protein N-linked glycosylation Golgi membrane|integral to plasma membrane|membrane fraction galactosylceramide sulfotransferase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 21 GCTCCACCTCCAGGATGTGCT 0.612000 9 91 0 0 0.000274275 0 0 TLN2 83660 broad.mit.edu 37 15 63000710 63000710 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:63000710C>T ENST00000561311.1 + 20 2412 c.2182C>T c.(2182-2184)Ccc>Tcc p.P728S TLN2_ENST00000306829.6_Missense_Mutation_p.P728S Q9Y4G6 TLN2_HUMAN talin 2 728 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 GGTTGTGAGCCCCACTATTAG 0.602000 9 80 0 0 0.000442599 0 0 ZDHHC23 254887 broad.mit.edu 37 3 113672623 113672623 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:113672623C>T ENST00000330212.3 + 3 537 c.238C>T c.(238-240)Cct>Tct p.P80S ZDHHC23_ENST00000498275.1_Missense_Mutation_p.P74S NM_173570.3 NP_775841.2 Q8IYP9 ZDH23_HUMAN zinc finger, DHHC-type containing 23 80 integral to membrane acyltransferase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2) 16 CCTCCGAATTCCTTGGCTTAG 0.458000 28 89 0 0 0.00106085 0 0 YTHDF1 54915 broad.mit.edu 37 20 61835042 61835042 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:61835042G>A ENST00000370339.3 - 4 591 c.250C>T c.(250-252)Cca>Tca p.P84S YTHDF1_ENST00000370333.4_Missense_Mutation_p.P34S|YTHDF1_ENST00000370334.4_Intron NM_017798.3 NP_060268.2 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 84 NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2) 24 GTGAGGTATGGAATCGGAGGG 0.542000 9 80 0 0 0.000673444 0 0 C6orf48 50854 broad.mit.edu 37 6 31807420 31807420 + Nonsense_Mutation SNP G G T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:31807420G>T ENST00000375640.3 + 4 935 c.208G>T c.(208-210)Gga>Tga p.G70* C6orf48_ENST00000375638.3_Nonsense_Mutation_p.G70*|C6orf48_ENST00000375635.2_Nonsense_Mutation_p.G70*|C6orf48_ENST00000375633.1_Nonsense_Mutation_p.G70*|C6orf48_ENST00000375642.2_Nonsense_Mutation_p.G70*|C6orf48_ENST00000375641.2_Nonsense_Mutation_p.G70*|C6orf48_ENST00000375639.2_Nonsense_Mutation_p.G70*|C6orf48_ENST00000395788.3_Nonsense_Mutation_p.G70*|C6orf48_ENST00000395789.1_Nonsense_Mutation_p.G70* NM_001040438.1 NP_001035528.1 Q9UBA6 G8_HUMAN chromosome 6 open reading frame 48 70 breast(1)|large_intestine(1)|lung(1)|skin(1) 4 CCTTATTGGGGGAAAAATGCC 0.373000 67 456 1.74474e-33 1.45323e-32 0.000781405 1 0 MAPK8IP3 23162 broad.mit.edu 37 16 1779144 1779144 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:1779144C>T ENST00000250894.4 + 3 602 c.445C>T c.(445-447)Cgg>Tgg p.R149W MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R149W NM_015133.3 NP_055948.2 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting protein 3 149 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 TCCAGTTTCCCGGTTGGAGGA 0.592000 30 125 0 0 0.00111076 0 0 SEC61A1 29927 broad.mit.edu 37 3 127779007 127779007 + Missense_Mutation SNP G G T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:127779007G>T ENST00000243253.3 + 6 599 c.415G>T c.(415-417)Gac>Tac p.D139Y SEC61A1_ENST00000464451.1_Missense_Mutation_p.D145Y|SEC61A1_ENST00000424880.2_Missense_Mutation_p.D19Y NM_013336.3 NP_037468.1 P61619 S61A1_HUMAN Sec61 alpha 1 subunit (S. cerevisiae) 139 protein targeting to ER integral to endoplasmic reticulum membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4) 21 GATGTATGGGGACCCTTCTGA 0.428000 38 154 5.44703e-19 4.5318e-18 0.000437636 1 0 JAK2 3717 broad.mit.edu 37 9 5044464 5044464 + Nonsense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:5044464C>T ENST00000381652.3 + 5 906 c.412C>T c.(412-414)Cga>Tga p.R138* JAK2_ENST00000544510.1_5'UTR|JAK2_ENST00000539801.1_Nonsense_Mutation_p.R138* NM_004972.3 NP_004963.1 O60674 JAK2_HUMAN Janus kinase 2 138 FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity). actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1) 32998 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) TGGAATATCTCGAGGTGCTGA 0.373000 1 """T, Mis, O""" """ETV6, PCM1, BCR""" """ALL, AML, MPD, CML""" Polycythemia Vera, Familial 5 58 0 0 8.12818e-05 0 0 NYAP2 57624 broad.mit.edu 37 2 226273632 226273632 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:226273632G>A ENST00000272907.6 + 2 449 c.36G>A c.(34-36)gaG>gaA p.E12E NYAP2_ENST00000409269.2_Silent_p.E12E NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 12 CTAATCCTGAGGAAGACCCTT 0.438000 6 63 0 0 0.00116845 0 0 HIVEP1 3096 broad.mit.edu 37 6 12125859 12125859 + Nonsense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:12125859G>A ENST00000379388.2 + 4 6163 c.5831G>A c.(5830-5832)tGg>tAg p.W1944* NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 1944 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) AACTTTACATGGTGTTATCTC 0.443000 13 85 0 0 0.000308642 0 0 GLRB 2743 broad.mit.edu 37 4 158057783 158057783 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:158057783C>T ENST00000264428.4 + 5 730 c.460C>T c.(460-462)Cat>Tat p.H154Y GLRB_ENST00000541722.1_Missense_Mutation_p.H154Y|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.H154Y NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta 154 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity p.H154Y(1) central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) TGCCAATTTTCATGATGTGAC 0.353000 7 105 0 0 0.000274275 0 0 ABCG8 64241 broad.mit.edu 37 2 44099249 44099249 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:44099249G>A ENST00000272286.2 + 7 1189 c.1099G>A c.(1099-1101)Gat>Aat p.D367N NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 367 cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) AGAGACGAAGGATCTTGACGA 0.547000 52 455 0 0 0.000781405 0 0 SLC15A2 6565 broad.mit.edu 37 3 121659250 121659250 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:121659250C>T ENST00000489711.1 + 21 2316 c.1928C>T c.(1927-1929)tCt>tTt p.S643F SLC15A2_ENST00000295605.2_Missense_Mutation_p.S612F NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 643 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding p.S643F(1) NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) AGCATGAAATCTGTGCTCCAG 0.507000 7 100 0 0 0.000157383 0 0 CYP4X1 260293 broad.mit.edu 37 1 47515784 47515784 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:47515784C>T ENST00000371901.3 + 12 1718 c.1468C>T c.(1468-1470)Cat>Tat p.H490Y CYP4X1_ENST00000538609.1_Missense_Mutation_p.H489Y NM_178033.1 NP_828847.1 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, polypeptide 1 490 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 17 TTTCCCCAACCATTTTATCCT 0.438000 20 103 0 0 0.000229342 0 0 PTPRE 5791 broad.mit.edu 37 10 129881150 129881150 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:129881150G>A ENST00000254667.3 + 21 2362 c.2083G>A c.(2083-2085)Gat>Aat p.D695N PTPRE_ENST00000419012.2_Missense_Mutation_p.D695N|PTPRE_ENST00000306042.5_Missense_Mutation_p.D637N NM_006504.4 NP_006495.1 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 695 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) TATATTTTCTGATTATGCTAA 0.249000 11 57 0 0 0.000978159 0 0 PPP1CA 5499 broad.mit.edu 37 11 67166015 67166015 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:67166015G>A ENST00000376745.4 - 7 1132 c.984C>T c.(982-984)gcC>gcT p.A328A PPP1CA_ENST00000358239.4_Silent_p.A284A|PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000312989.7_Silent_p.A339A NM_001008709.1|NM_002708.3 NP_001008709.1|NP_002699.1 P62136 PP1A_HUMAN protein phosphatase 1, catalytic subunit, alpha isozyme 328 cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity breast(1)|lung(2)|pancreas(1)|urinary_tract(3) 7 BRCA - Breast invasive adenocarcinoma(15;8.53e-07) GCTATTTCTTGGCTTTGGCGG 0.612000 6 50 0 0 0.00116845 0 0 PSG5 5673 broad.mit.edu 37 19 43680107 43680107 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:43680107C>T ENST00000404580.1 - 3 712 c.624G>A c.(622-624)acG>acA p.T208T PSG5_ENST00000342951.6_Silent_p.T208T|PSG5_ENST00000407356.1_Silent_p.T208T|PSG5_ENST00000599812.1_Silent_p.T301T|PSG5_ENST00000366175.3_Silent_p.T208T|PSG5_ENST00000407568.1_Intron Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 208 Ig-like C2-type 1. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) TTTCATTTCTCGTGACACTGG 0.498000 20 133 0 0 0.00047179 0 0 C1orf106 55765 broad.mit.edu 37 1 200880682 200880682 + Missense_Mutation SNP C C T rs145738054 byFrequency TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:200880682C>T ENST00000367342.4 + 9 1516 c.1316C>T c.(1315-1317)cCc>cTc p.P439L C1orf106_ENST00000413687.2_Missense_Mutation_p.P354L NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 439 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 TCCTGCTTTCCCGCGACCAAG 0.687000 25 230 0 0 0.000586117 0 0 UBQLN3 50613 broad.mit.edu 37 11 5530191 5530191 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:5530191G>A ENST00000311659.4 - 2 745 c.598C>T c.(598-600)Ctg>Ttg p.L200L HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 200 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGCTGGATCAGCTGCTGCATA 0.512000 14 126 0 0 0.000229342 0 0 DSC2 1824 broad.mit.edu 37 18 28651772 28651772 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr18:28651772G>A ENST00000280904.6 - 13 2367 c.1924C>T c.(1924-1926)Cca>Tca p.P642S DSC2_ENST00000251081.6_Missense_Mutation_p.P642S NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 642 Cadherin 5. homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) GAGCCAAATGGAGGATCATTC 0.348000 5 22 0 0 0.00116845 0 0 GFRA1 2674 broad.mit.edu 37 10 117825120 117825120 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:117825120G>A ENST00000439649.3 - 9 1567 c.1200C>T c.(1198-1200)tcC>tcT p.S400S GFRA1_ENST00000544592.1_Silent_p.S284S|GFRA1_ENST00000369236.1_Silent_p.S400S|GFRA1_ENST00000355422.6_Silent_p.S405S NM_001145453.1 NP_001138925.1 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 405 axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(174;0.21) all cancers(201;0.0337) CCGACACATTGGATTTCAGCT 0.433000 6 33 0 0 8.12818e-05 0 0 ABCC3 8714 broad.mit.edu 37 17 48752800 48752800 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:48752800G>A ENST00000285238.8 + 20 2757 c.2677G>A c.(2677-2679)Gat>Aat p.D893N ABCC3_ENST00000510891.1_3'UTR NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 893 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) GACAGACAATGATCCAGTCAC 0.567000 9 68 0 0 0.000442599 0 0 ZDHHC15 158866 broad.mit.edu 37 X 74651289 74651289 + Missense_Mutation SNP G G T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:74651289G>T ENST00000541184.1 - 4 896 c.419C>A c.(418-420)gCt>gAt p.A140D ZDHHC15_ENST00000373367.3_Missense_Mutation_p.A149D|ZDHHC15_ENST00000373361.3_Missense_Mutation_p.A149D NM_001146256.1 NP_001139728.1 Q96MV8 ZDH15_HUMAN zinc finger, DHHC-type containing 15 149 integral to membrane zinc ion binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2) 26 CACTTACATAGCACAGACAGA 0.453000 7 21 1.12685e-05 9.34347e-05 0.000274275 1 0 ECM2 1842 broad.mit.edu 37 9 95272208 95272208 + Nonsense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:95272208G>A ENST00000344604.5 - 6 1428 c.1279C>T c.(1279-1281)Cag>Tag p.Q427* ECM2_ENST00000444490.2_Nonsense_Mutation_p.Q405*|CENPP_ENST00000375587.3_Intron NM_001197295.1|NM_001393.3 NP_001184224.1|NP_001384.1 O94769 ECM2_HUMAN extracellular matrix protein 2, female organ and adipocyte specific 427 cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 TCGATAGCCTGAAGATTGTTC 0.289000 6 43 0 0 0.00116845 0 0 TMEM17 200728 broad.mit.edu 37 2 62728490 62728490 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:62728490G>A ENST00000335390.5 - 4 662 c.451C>T c.(451-453)Ctt>Ttt p.L151F NM_198276.2 NP_938017.2 Q86X19 TMM17_HUMAN transmembrane protein 17 151 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 9 Lung NSC(7;0.0274)|all_lung(7;0.0568) LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169) TGGAAAGCAAGGAAGAGAGTG 0.403000 11 89 0 0 0.000673444 0 0 SLC9A4 389015 broad.mit.edu 37 2 103095455 103095455 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:103095455C>T ENST00000295269.4 + 2 871 c.414C>T c.(412-414)atC>atT p.I138I NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 138 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 TGCCACCCATCGTTCTGGAGG 0.612000 8 66 0 0 0.000442599 0 0 NUP153 9972 broad.mit.edu 37 6 17675216 17675216 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:17675216G>A ENST00000262077.2 - 5 771 c.772C>T c.(772-774)Cct>Tct p.P258S NUP153_ENST00000537253.1_Missense_Mutation_p.P258S NM_005124.2 NP_005115.2 P49790 NU153_HUMAN nucleoporin 153kDa 258 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2) 53 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) GGATAAAAAGGAGAATCTCCA 0.418000 14 81 0 0 0.000422831 0 0 HTR3E 285242 broad.mit.edu 37 3 183818415 183818415 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:183818415C>T ENST00000415389.2 + 2 676 c.210C>T c.(208-210)ttC>ttT p.F70F HTR3E_ENST00000436361.2_Silent_p.F85F|HTR3E_ENST00000425359.2_Silent_p.F70F|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000440596.2_Silent_p.F85F|HTR3E_ENST00000335304.2_Silent_p.F85F NM_001256613.1|NM_198313.2 NP_001243542.1|NP_938055.1 A5X5Y0 5HT3E_HUMAN 5-hydroxytryptamine (serotonin) receptor 3E, ionotropic 70 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 40 all_cancers(143;1.46e-10)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) ACATCTCCTTCGCGATGTCTG 0.557000 29 105 0 0 0.00127121 0 0 C4BPB 725 broad.mit.edu 37 1 207273143 207273143 + Nonsense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:207273143C>T ENST00000243611.5 + 6 922 c.628C>T c.(628-630)Cag>Tag p.Q210* C4BPB_ENST00000367078.3_Nonsense_Mutation_p.Q210*|C4BPB_ENST00000367076.3_Nonsense_Mutation_p.Q209*|C4BPB_ENST00000391923.1_Nonsense_Mutation_p.Q210*|C4BPB_ENST00000470767.1_3'UTR NM_000716.3 NP_000707.1 P20851 C4BPB_HUMAN complement component 4 binding protein, beta 210 blood coagulation|complement activation, classical pathway|innate immune response extracellular region breast(2)|lung(1)|ovary(1) 4 GCTTGCCTTTCAGGAGAGTAA 0.418000 10 80 0 0 0.000673444 0 0 PCDHB10 56126 broad.mit.edu 37 5 140573038 140573038 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:140573038G>A ENST00000239446.4 + 1 1097 c.913G>A c.(913-915)Gaa>Aaa p.E305K NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 305 Cadherin 3. 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) CTTTCTCAGAGAATTGCTTGA 0.363000 7 55 0 0 8.12818e-05 0 0 CYP1A2 1544 broad.mit.edu 37 15 75042883 75042883 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:75042883C>T ENST00000343932.4 + 2 867 c.804C>T c.(802-804)gtC>gtT p.V268V NM_000761.3 NP_000752.2 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 2 268 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) AGAAAACAGTCCAGGAGCACT 0.612000 7 66 0 0 8.12818e-05 0 0 RXFP1 59350 broad.mit.edu 37 4 159568246 159568246 + Missense_Mutation SNP A A G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:159568246A>G ENST00000307765.5 + 16 1900 c.1649A>G c.(1648-1650)aAg>aGg p.K550R RXFP1_ENST00000460056.2_Missense_Mutation_p.K469R|RXFP1_ENST00000343542.5_Missense_Mutation_p.K502R|RXFP1_ENST00000470033.1_Missense_Mutation_p.K517R|RXFP1_ENST00000448688.2_Missense_Mutation_p.K445R NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 550 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) TTGAGCAATAAGGAATTTTTC 0.368000 8 52 0 0 0.000274275 0 0 KIAA1841 84542 broad.mit.edu 37 2 61297492 61297492 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:61297492C>T ENST00000402291.1 + 3 248 c.7C>T c.(7-9)Cgt>Tgt p.R3C KIAA1841_ENST00000356719.2_Missense_Mutation_p.R3C|KIAA1841_ENST00000453873.1_Missense_Mutation_p.R3C|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000295031.5_Missense_Mutation_p.R3C NM_001129993.1 NP_001123465.1 Q6NSI8 K1841_HUMAN KIAA1841 3 breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 25 Epithelial(17;0.193) AAAGATGAGTCGTGGATATTC 0.338000 6 69 0 0 0.000157383 0 0 CCR2 729230 broad.mit.edu 37 3 46399868 46399868 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:46399868G>A ENST00000292301.4 + 2 1335 c.850G>A c.(850-852)Gac>Aac p.D284N CCR2_ENST00000400888.2_Missense_Mutation_p.D284N|CCR2_ENST00000445132.2_Missense_Mutation_p.D284N|CCR2_ENST00000465202.1_3'UTR NM_001123041.2 NP_001116513.2 P41597 CCR2_HUMAN chemokine (C-C motif) receptor 2 284 astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7) 14 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) CAGTCAACTGGACCAAGCCAC 0.473000 34 147 0 0 0.000491102 0 0 XPO5 57510 broad.mit.edu 37 6 43523660 43523660 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:43523660G>A ENST00000265351.7 - 13 1564 c.1354C>T c.(1354-1356)Cgt>Tgt p.R452C XPO5_ENST00000424378.2_5'UTR NM_020750.2 NP_065801.1 Q9HAV4 XPO5_HUMAN exportin 5 452 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 34 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) GGATCCAAACGACATGCCAAC 0.433000 14 103 0 0 0.000308642 0 0 RPRD2 23248 broad.mit.edu 37 1 150429989 150429989 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:150429989C>T ENST00000401000.4 + 7 1083 c.1018C>T c.(1018-1020)Cgt>Tgt p.R340C RPRD2_ENST00000369068.4_Missense_Mutation_p.R366C|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Missense_Mutation_p.R340C Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 366 protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 GACAGATAATCGTGATGTGGA 0.428000 29 299 0 0 0.000227799 0 0 NRXN1 9378 broad.mit.edu 37 2 50850704 50850704 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:50850704G>A ENST00000404971.1 - 7 2320 c.981C>T c.(979-981)taC>taT p.Y327Y NRXN1_ENST00000402717.3_Silent_p.Y294Y|NRXN1_ENST00000401669.2_Silent_p.Y294Y|NRXN1_ENST00000406859.3_Silent_p.Y294Y|NRXN1_ENST00000405472.3_Silent_p.Y294Y|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Silent_p.Y294Y NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 294 Laminin G-like 2. 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) GAGACAAGTCGTAGCAGAAGT 0.378000 5 34 0 0 0.000602214 0 0 GLYAT 10249 broad.mit.edu 37 11 58491913 58491913 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:58491913C>T ENST00000344743.3 - 2 198 c.57G>A c.(55-57)agG>agA p.R19R GLYAT_ENST00000529732.1_Silent_p.R19R|GLYAT_ENST00000278400.3_Silent_p.R19R NM_201648.2 NP_964011.2 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase 19 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) GGAGGCTCTTCCTCAAGGATT 0.438000 15 65 0 0 0.00074312 0 0 SCN11A 11280 broad.mit.edu 37 3 38889190 38889190 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:38889190G>A ENST00000450244.1 - 26 4569 c.4371C>T c.(4369-4371)ttC>ttT p.F1457F SCN11A_ENST00000302328.3_Silent_p.F1457F|SCN11A_ENST00000456224.3_Silent_p.F1419F Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1457 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GCGTCGGAGGGAAAGGAATGT 0.493000 5 47 0 0 0.000157383 0 0 TOR1AIP2 163590 broad.mit.edu 37 1 179815703 179815703 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:179815703C>T ENST00000367612.3 - 6 1303 c.916G>A c.(916-918)Gag>Aag p.E306K NM_001199260.1|NM_145034.4 NP_001186189.1|NP_659471.1 Q8NFQ8 TOIP2_HUMAN torsin A interacting protein 2 306 endoplasmic reticulum membrane|integral to membrane protein binding cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2) 18 TTCAGGGTCTCTCTTCCCTCC 0.552000 15 172 0 0 0.000958276 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146997332 146997332 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:146997332G>A ENST00000361727.3 + 9 1964 c.1448G>A c.(1447-1449)cGa>cAa p.R483Q NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 483 Laminin G-like 2. 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) TCAGCAGTTCGAACTAATAGT 0.423000 HNSCC(39;0.1) 8 64 0 0 0.000442599 0 0 MAN1A1 4121 broad.mit.edu 37 6 119525929 119525929 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:119525929C>T ENST00000368468.3 - 7 1552 c.1111G>A c.(1111-1113)Gaa>Aaa p.E371K NM_005907.3 NP_005898.2 P33908 MA1A1_HUMAN mannosidase, alpha, class 1A, member 1 371 post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3) 24 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) CTCACCTTTTCAGCAAAGATG 0.443000 14 127 0 0 0.000566183 0 0 XIST 7503 broad.mit.edu 37 X 73067708 73067708 + RNA SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:73067708G>A ENST00000429829.1 - 0 4880 NR_001564.2 TAGTCCCAGGGAAAGGTAACA 0.383000 27 65 0 0 0.000227799 0 0 WNT8B 7479 broad.mit.edu 37 10 102242541 102242541 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:102242541G>A ENST00000343737.5 + 6 1152 c.1024G>A c.(1024-1026)Ggc>Agc p.G342S NM_003393.3 NP_003384.2 Q93098 WNT8B_HUMAN wingless-type MMTV integration site family, member 8B 342 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity breast(1)|large_intestine(1)|ovary(1)|skin(1) 4 Colorectal(252;0.117) Epithelial(162;1.87e-10)|all cancers(201;1.64e-08) GCCGCGGGGGGGCGCTGCGCA 0.622000 OREG0020440 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 10 0 0 0.000602214 0 0 PLXNB2 23654 broad.mit.edu 37 22 50718106 50718106 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr22:50718106G>A ENST00000449103.1 - 27 4482 c.4342C>T c.(4342-4344)Ctc>Ttc p.L1448F PLXNB2_ENST00000359337.4_Missense_Mutation_p.L1448F O15031 PLXB2_HUMAN plexin B2 1448 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GTGTCGTTGAGAGTGTACTTG 0.622000 16 124 0 0 0.00074312 0 0 PCLO 27445 broad.mit.edu 37 7 82474693 82474693 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:82474693C>T ENST00000423517.2 - 13 14277 c.13940G>A c.(13939-13941)gGa>gAa p.G4647E PCLO_ENST00000333891.8_Missense_Mutation_p.G4647E|PCLO_ENST00000426442.2_5'UTR NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4535 C2 1. 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 AACATGAGATCCTTTTTCAAC 0.532000 6 22 0 0 0.00116845 0 0 ANKRD52 283373 broad.mit.edu 37 12 56647912 56647912 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:56647912G>A ENST00000267116.7 - 8 966 c.845C>T c.(844-846)tCc>tTc p.S282F NM_173595.3 NP_775866.2 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 282 protein binding endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1) 29 GCCATTGGTGGAGACTGCAGC 0.562000 8 87 0 0 0.000274275 0 0 GABPB2 126626 broad.mit.edu 37 1 151079544 151079544 + Silent SNP C C T rs139254162 byFrequency TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:151079544C>T ENST00000368918.3 + 7 1099 c.768C>T c.(766-768)tcC>tcT p.S256S GABPB2_ENST00000368916.1_Silent_p.S218S|GABPB2_ENST00000368917.1_Silent_p.S218S|GABPB2_ENST00000467551.1_3'UTR NM_144618.2 NP_653219.1 Q8TAK5 GABP2_HUMAN GA binding protein transcription factor, beta subunit 2 256 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus protein heterodimerization activity|transcription regulatory region DNA binding breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7) 15 all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662) AAGGAAATTCCGTTGACTCAT 0.393000 7 75 0 0 0.000673444 0 0 HHIPL2 79802 broad.mit.edu 37 1 222716994 222716994 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:222716994G>A ENST00000343410.6 - 2 917 c.859C>T c.(859-861)Cgc>Tgc p.R287C NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 287 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding p.R287C(1) NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) TAGAACTTGCGATTGTGGCGG 0.473000 101 683 0 0 0.000781405 0 0 AEBP2 121536 broad.mit.edu 37 12 19665357 19665357 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:19665357C>T ENST00000266508.9 + 6 1326 c.1325C>T c.(1324-1326)tCt>tTt p.S442F AEBP2_ENST00000398864.3_Missense_Mutation_p.S442F|AEBP2_ENST00000541908.1_Missense_Mutation_p.S213F|AEBP2_ENST00000360995.4_Missense_Mutation_p.S226F NM_153207.4 NP_694939.2 Q6ZN18 AEBP2_HUMAN AE binding protein 2 442 Interaction with SUZ12. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143) AAAGAAGATTCTGGGAAGATC 0.264000 3 9 0 0 6.4e-05 0 0 TUBA3C 7278 broad.mit.edu 37 13 19748188 19748188 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr13:19748188G>A ENST00000400113.3 - 5 1272 c.1168C>T c.(1168-1170)Cgc>Tgc p.R390C NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 390 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) TGGTCCAGGCGAGCCCAGGCC 0.647000 14 83 0 0 0.000308642 0 0 ULK1 8408 broad.mit.edu 37 12 132399957 132399957 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:132399957C>T ENST00000321867.4 + 18 1951 c.1600C>T c.(1600-1602)Cct>Tct p.P534S NM_003565.2 NP_003556.1 O75385 ULK1_HUMAN unc-51 like autophagy activating kinase 1 534 autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 29 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) TGGCAGGTCCCCTCGTCCAGG 0.637000 8 43 0 0 0.000274275 0 0 FRMPD1 22844 broad.mit.edu 37 9 37708428 37708428 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:37708428G>A ENST00000539465.1 + 4 885 c.292G>A c.(292-294)Gat>Aat p.D98N RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.D98N Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 98 PDZ. cytoskeleton|cytosol|plasma membrane p.D98N(1) NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) TTTCCCTGGTGATCAGATCCT 0.483000 9 122 0 0 0.000978159 0 0 OSER1 51526 broad.mit.edu 37 20 42825852 42825852 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:42825852G>A ENST00000372970.2 - 6 899 c.719C>T c.(718-720)tCg>tTg p.S240L OSER1_ENST00000255174.2_Missense_Mutation_p.S240L oxidative stress responsive serine-rich 1 GGCGTGCAGCGACTGAGAGTA 0.527000 6 74 0 0 0.00116845 0 0 PLG 5340 broad.mit.edu 37 6 161139449 161139449 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:161139449C>T ENST00000308192.9 + 8 974 c.911C>T c.(910-912)cCt>cTt p.P304L NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 304 Kringle 3. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) GCACAGACCCCTCACACACAT 0.527000 9 91 0 0 0.000274275 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145780997 145780997 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:145780997C>T ENST00000276826.5 - 3 744 c.543G>A c.(541-543)aaG>aaA p.K181K ARHGAP39_ENST00000377307.2_Silent_p.K181K|ARHGAP39_ENST00000540274.1_Silent_p.K181K Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 181 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 TCTCATAGTCCTTCTCAAGGA 0.478000 13 147 0 0 0.000566183 0 0 CRB1 23418 broad.mit.edu 37 1 197404357 197404357 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:197404357G>A ENST00000367397.1 + 5 2365 c.1507G>A c.(1507-1509)Gaa>Aaa p.E503K CRB1_ENST00000535699.1_Missense_Mutation_p.E1098K|CRB1_ENST00000367400.3_Missense_Mutation_p.E1122K|CRB1_ENST00000367399.2_Missense_Mutation_p.E1010K|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.E603K P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 1122 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.Q1121_E1122>H*(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TAAACCTCAGGAAGAGCAATT 0.398000 4 49 0 0 0.00116845 0 0 TEX15 56154 broad.mit.edu 37 8 30702531 30702531 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:30702531G>A ENST00000256246.2 - 1 4077 c.4003C>T c.(4003-4005)Cct>Tct p.P1335S NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1335 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) GATAACTGAGGAATACTGTAC 0.383000 16 102 0 0 0.00074312 0 0 ELMSAN1 91748 broad.mit.edu 37 14 74188198 74188198 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr14:74188198G>A ENST00000286523.5 - 11 3521 c.2739C>T c.(2737-2739)ttC>ttT p.F913F ELMSAN1_ENST00000394071.2_Silent_p.F913F NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 GCACCCTTGGGAACTTTTGGG 0.592000 5 102 0 0 8.12818e-05 0 0 ULK1 8408 broad.mit.edu 37 12 132399958 132399958 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:132399958C>T ENST00000321867.4 + 18 1952 c.1601C>T c.(1600-1602)cCt>cTt p.P534L NM_003565.2 NP_003556.1 O75385 ULK1_HUMAN unc-51 like autophagy activating kinase 1 534 autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 29 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) GGCAGGTCCCCTCGTCCAGGT 0.637000 8 42 0 0 0.000274275 0 0 OR2S2 56656 broad.mit.edu 37 9 35957487 35957487 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:35957487C>T ENST00000341959.2 - 1 664 c.609G>A c.(607-609)acG>acA p.T203T NM_019897.2 NP_063950.2 Q9NQN1 OR2S1_HUMAN olfactory receptor, family 2, subfamily S, member 2 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T193T(1) central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194) AGATCACATTCGTCACCTCCA 0.483000 15 99 0 0 0.000422831 0 0 KIF23 9493 broad.mit.edu 37 15 69737184 69737184 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:69737184C>T ENST00000260363.4 + 19 2552 c.2435C>T c.(2434-2436)tCa>tTa p.S812L KIF23_ENST00000395392.2_Missense_Mutation_p.S805L|KIF23_ENST00000558585.1_Missense_Mutation_p.S525L|KIF23_ENST00000537891.1_Missense_Mutation_p.S525L|KIF23_ENST00000352331.4_Missense_Mutation_p.S708L|KIF23_ENST00000559279.1_Missense_Mutation_p.S708L NM_138555.2 NP_612565.1 Q02241 KIF23_HUMAN kinesin family member 23 812 blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1) 21 CACAGACGATCACGCTCTGCA 0.453000 6 60 0 0 0.00116845 0 0 NAGPA 51172 broad.mit.edu 37 16 5075614 5075614 + Missense_Mutation SNP C C G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:5075614C>G ENST00000312251.3 - 10 1432 c.1413G>C c.(1411-1413)ttG>ttC p.L471F NAGPA_ENST00000381955.3_Missense_Mutation_p.L437F|RP11-165E7.1_ENST00000588778.1_RNA NM_016256.3 NP_057340.2 Q9UK23 NAGPA_HUMAN N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase 471 carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome Golgi cisterna membrane|integral to membrane N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1) 12 N-Acetyl-D-glucosamine(DB00141) TGGACAGGAGCAAGGACAGGT 0.637000 6 41 0 0 0.00116845 0 0 SKIV2L 6499 broad.mit.edu 37 6 31930263 31930263 + Missense_Mutation SNP G G T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:31930263G>T ENST00000375394.2 + 11 1225 c.1112G>T c.(1111-1113)cGg>cTg p.R371L SKIV2L_ENST00000544581.1_Missense_Mutation_p.R178L NM_006929.4 NP_008860.4 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like (S. cerevisiae) 371 Helicase ATP-binding. nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 CAGAAGTTCCGGGACTTCCGA 0.592000 12 642 0.000219431 0.00181333 0.000219431 1 0 DNAH2 146754 broad.mit.edu 37 17 7684361 7684361 + Splice_Site SNP T T C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:7684361T>C ENST00000572933.1 + 39 7465 c.6003_splice c.e39-1 p.V2002_splice DNAH2_ENST00000389173.2_Splice_Site_p.V2002_splice Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2002 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CCCATTCAGGTTCTGCTGCTC 0.512000 15 167 0 0 0.000422831 0 0 TRIM65 201292 broad.mit.edu 37 17 73887947 73887947 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:73887947G>A ENST00000269383.3 - 5 997 c.932C>T c.(931-933)cCc>cTc p.P311L NM_001256124.1|NM_173547.3 NP_001243053.1|NP_775818.2 Q6PJ69 TRI65_HUMAN tripartite motif containing 65 311 intracellular zinc ion binding endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) CGGTGCCAGGGGACCTGGGGC 0.627000 5 17 0 0 8.12818e-05 0 0 GADL1 339896 broad.mit.edu 37 3 30891538 30891538 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:30891538C>T ENST00000454381.3 - 6 647 c.601G>A c.(601-603)Gaa>Aaa p.E201K GADL1_ENST00000282538.5_Missense_Mutation_p.E201K Q6ZQY3 GADL1_HUMAN glutamate decarboxylase-like 1 201 carboxylic acid metabolic process carboxy-lyase activity|pyridoxal phosphate binding breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1) 25 Pyridoxal Phosphate(DB00114) AGCCCCTTTTCCTTAATATCA 0.323000 5 46 0 0 0.00116845 0 0 CLCN1 1180 broad.mit.edu 37 7 143048844 143048844 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:143048844G>A ENST00000343257.2 + 23 2840 c.2753G>A c.(2752-2754)gGa>gAa p.G918E NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 918 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) GGGGCCACTGGAACAGGGGAT 0.622000 8 50 0 0 0.000157383 0 0 ANKEF1 63926 broad.mit.edu 37 20 10033912 10033912 + Nonsense_Mutation SNP A A T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:10033912A>T ENST00000378380.3 + 8 2352 c.2023A>T c.(2023-2025)Aag>Tag p.K675* ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Nonsense_Mutation_p.K675*|SNAP25-AS1_ENST00000603542.1_RNA NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 CCCTGAAATTAAGAAAGAAGA 0.363000 9 66 0 0 0.000442599 0 0 ULK1 8408 broad.mit.edu 37 12 132403804 132403804 + Silent SNP C C T rs139624236 TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:132403804C>T ENST00000321867.4 + 24 2910 c.2559C>T c.(2557-2559)ttC>ttT p.F853F ULK1_ENST00000540647.1_Silent_p.F98F NM_003565.2 NP_003556.1 O75385 ULK1_HUMAN unc-51 like autophagy activating kinase 1 853 autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 29 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) CGCTGCTGTTCGTGCAGCACG 0.682000 5 39 0 0 0.000157383 0 0 SCN11A 11280 broad.mit.edu 37 3 38950508 38950508 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:38950508G>A ENST00000450244.1 - 9 1477 c.1279C>T c.(1279-1281)Ctg>Ttg p.L427L SCN11A_ENST00000302328.3_Silent_p.L427L|SCN11A_ENST00000456224.3_Silent_p.L427L|SCN11A_ENST00000444237.2_Silent_p.L427L Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 427 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TCCTTTAACAGCTGCTGGGCT 0.522000 9 118 0 0 0.000978159 0 0 GLDN 342035 broad.mit.edu 37 15 51634223 51634223 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr15:51634223G>A ENST00000335449.6 + 1 398 c.342G>A c.(340-342)atG>atA p.M114I NM_181789.2 NP_861454.2 Q6ZMI3 GLDN_HUMAN gliomedin 114 cell differentiation|nervous system development collagen|integral to membrane|plasma membrane central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) TGCTGATGATGATGACCTACT 0.706000 8 90 0 0 0.000442599 0 0 THRSP 7069 broad.mit.edu 37 11 77775213 77775213 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:77775213G>A ENST00000281030.2 + 1 307 c.286G>A c.(286-288)Gag>Aag p.E96K NDUFC2-KCTD14_ENST00000528251.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Intron NM_003251.3 NP_003242.1 Q92748 THRSP_HUMAN thyroid hormone responsive 96 lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 7 all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;2.15e-25) CGCAGAGACAGAGGAAGTCGA 0.612000 10 54 0 0 0.000442599 0 0 FSD1 79187 broad.mit.edu 37 19 4318403 4318403 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:4318403C>T ENST00000221856.6 + 9 1007 c.860C>T c.(859-861)tCc>tTc p.S287F FSD1_ENST00000598010.1_3'UTR|FSD1_ENST00000597590.1_Missense_Mutation_p.S287F NM_024333.2 NP_077309.1 Q9BTV5 FSD1_HUMAN fibronectin type III and SPRY domain containing 1 287 B30.2/SPRY. cell division|mitosis cleavage furrow|microtubule|microtubule organizing center|nucleus breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18) GATGATCTCTCCGTGGAGTGG 0.627000 9 49 0 0 0.000442599 0 0 ASTN1 460 broad.mit.edu 37 1 176983952 176983952 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:176983952G>A ENST00000367654.2 - 8 1535 c.1522C>T c.(1522-1524)Cgg>Tgg p.R508W ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.R500W|ASTN1_ENST00000361833.2_Missense_Mutation_p.R500W|ASTN1_ENST00000424564.2_Missense_Mutation_p.R500W O14525 ASTN1_HUMAN astrotactin 1 508 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 CATTCGTTCCGAATGCAAAGG 0.493000 102 254 0 0 0.000781405 0 0 FCER1A 2205 broad.mit.edu 37 1 159277548 159277548 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:159277548G>A ENST00000368115.1 + 6 699 c.600G>A c.(598-600)gaG>gaA p.E200E FCER1A_ENST00000368114.1_Silent_p.E167E NM_002001.3 NP_001992.1 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide 200 integral to plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) CTCCGCGTGAGAAGTACTGGC 0.413000 8 78 0 0 0.000673444 0 0 SUPT6H 6830 broad.mit.edu 37 17 27024697 27024697 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:27024697C>T ENST00000314616.6 + 31 4552 c.4269C>T c.(4267-4269)gcC>gcT p.A1423A SUPT6H_ENST00000347486.4_Silent_p.A1423A NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1423 SH2. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CATCCTTTGCCCGGGACCTTC 0.517000 11 65 0 0 0.000978159 0 0 DNAH3 55567 broad.mit.edu 37 16 21136652 21136652 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:21136652C>T ENST00000261383.3 - 9 1247 c.1248G>A c.(1246-1248)aaG>aaA p.K416K CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Silent_p.K416K NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 416 Stem (By similarity). 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) TCCAGTGCTCCTTCCGTGAGG 0.498000 8 89 0 0 0.000274275 0 0 TTN 7273 broad.mit.edu 37 2 179584374 179584374 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:179584374G>A ENST00000589042.1 - 82 24069 c.23845C>T c.(23845-23847)Ccc>Tcc p.P7949S TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P6705S|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P7632S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7632 Ig-like 62. 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) TCGGCACAGGGGATTTTAAGG 0.408000 14 110 0 0 0.000219431 0 0 ITK 3702 broad.mit.edu 37 5 156679629 156679629 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:156679629C>T ENST00000422843.3 + 17 1956 c.1804C>T c.(1804-1806)Cgg>Tgg p.R602W ITK_ENST00000519749.1_3'UTR NM_005546.3 NP_005537.3 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 602 Protein kinase. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ACCAGAAGATCGGCCAGCCTT 0.463000 T SYK peripheral T-cell lymphoma 35 353 0 0 0.00111076 0 0 ACMSD 130013 broad.mit.edu 37 2 135616903 135616903 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:135616903C>T ENST00000356140.5 + 3 311 c.175C>T c.(175-177)Cgt>Tgt p.R59C ACMSD_ENST00000392928.1_Silent_p.F17F|ACMSD_ENST00000283054.4_Silent_p.F17F|AC016725.4_ENST00000392929.2_RNA NM_138326.2 NP_612199.2 Q8TDX5 ACMSD_HUMAN aminocarboxymuconate semialdehyde decarboxylase 59 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) TCCAGAAGTTCGTATTAGAGA 0.418000 8 72 0 0 0.000274275 0 0 IFT88 8100 broad.mit.edu 37 13 21166490 21166490 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr13:21166490C>T ENST00000382778.4 + 8 1490 c.372C>T c.(370-372)ccC>ccT p.P124P IFT88_ENST00000537103.1_Silent_p.P96P|IFT88_ENST00000351808.5_Silent_p.P115P|IFT88_ENST00000319980.6_Silent_p.P124P Q13099 IFT88_HUMAN intraflagellar transport 88 homolog (Chlamydomonas) 124 cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 27 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) CATTTGACCCCCTTAGTCAGT 0.378000 10 72 0 0 0.000151284 0 0 POLR1A 25885 broad.mit.edu 37 2 86255069 86255069 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:86255069G>A ENST00000263857.6 - 33 5379 c.5001C>T c.(4999-5001)tcC>tcT p.S1667S POLR1A_ENST00000409681.1_Silent_p.S1606S O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 1667 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 GCTGTAGCGGGGAAGAGTTTG 0.552000 14 97 0 0 0.000422831 0 0 ABCC12 94160 broad.mit.edu 37 16 48174784 48174784 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:48174784C>T ENST00000311303.3 - 4 816 c.471G>A c.(469-471)ggG>ggA p.G157G ABCC12_ENST00000448542.1_Silent_p.G157G|ABCC12_ENST00000416054.1_Silent_p.G157G NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 157 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) CCCAGACTTTCCCAGAGGTCC 0.547000 11 72 0 0 0.000978159 0 0 PLXND1 23129 broad.mit.edu 37 3 129304874 129304874 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:129304874G>A ENST00000393239.1 - 5 1950 c.1772C>T c.(1771-1773)aCc>aTc p.T591I PLXND1_ENST00000324093.4_Missense_Mutation_p.T591I Q9Y4D7 PLXD1_HUMAN plexin D1 591 axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 GCTGGCACTGGTCCAGAAATG 0.657000 32 116 0 0 0.000692331 0 0 SLC26A9 115019 broad.mit.edu 37 1 205893549 205893549 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:205893549G>A ENST00000367135.3 - 13 1571 c.1458C>T c.(1456-1458)gtC>gtT p.V486V SLC26A9_ENST00000367134.2_Silent_p.V486V|SLC26A9_ENST00000340781.4_Silent_p.V486V NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 486 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) CGGAGAAGGCGACACCCACTG 0.577000 13 80 0 0 0.000308642 0 0 C6orf89 221477 broad.mit.edu 37 6 36887380 36887380 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:36887380C>T ENST00000480824.2 + 8 1146 c.852C>T c.(850-852)atC>atT p.I284I C6orf89_ENST00000373685.1_Silent_p.I284I|C6orf89_ENST00000510325.2_Silent_p.I178I|C6orf89_ENST00000359359.2_Silent_p.I178I|C6orf89_ENST00000355190.3_Silent_p.I291I Q6UWU4 CF089_HUMAN chromosome 6 open reading frame 89 284 integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 15 ACCTATTTATCATTGGCAGCG 0.483000 12 137 0 0 0.000219431 0 0 KIF5A 3798 broad.mit.edu 37 12 57975679 57975679 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:57975679G>A ENST00000455537.2 + 26 3210 c.2936G>A c.(2935-2937)gGa>gAa p.G979E KIF5A_ENST00000286452.5_Missense_Mutation_p.G890E NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 979 Globular. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 ACCAGCAGTGGAGCCACATCT 0.552000 11 81 0 0 0.00010058 0 0 B3GALT1 8708 broad.mit.edu 37 2 168726189 168726189 + Missense_Mutation SNP C C T rs144099662 byFrequency TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:168726189C>T ENST00000305861.1 + 2 991 c.640C>T c.(640-642)Cgg>Tgg p.R214W AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA|B3GALT1_ENST00000392690.2_Missense_Mutation_p.R214W NM_020981.3 NP_066191.1 Q9Y5Z6 B3GT1_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 214 lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity p.R214R(1) cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 AGGACCGATTCGGGATGTCCG 0.438000 5 47 0 0 0.000602214 0 0 MTUS2 23281 broad.mit.edu 37 13 29600115 29600115 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr13:29600115C>T ENST00000431530.3 + 1 1368 c.1310C>T c.(1309-1311)tCc>tTc p.S437F NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 427 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 GAAAGGACATCCAGCAGCTTT 0.507000 9 49 0 0 0.000673444 0 0 PHYH 5264 broad.mit.edu 37 10 13337514 13337514 + Missense_Mutation SNP G G A rs141855372 byFrequency TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:13337514G>A ENST00000396920.3 - 3 574 c.170C>T c.(169-171)gCc>gTc p.A57V PHYH_ENST00000263038.4_Missense_Mutation_p.A76V|PHYH_ENST00000396913.2_5'UTR O14832 PAHX_HUMAN phytanoyl-CoA 2-hydroxylase 76 fatty acid alpha-oxidation|nervous system development peroxisomal matrix electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 25 Ovarian(717;0.0448) Antihemophilic Factor(DB00025)|Vitamin C(DB00126) TTGAATATCGGCATCAGGTAC 0.353000 5 79 0 0 0.000602214 0 0 CDH16 1014 broad.mit.edu 37 16 66943997 66943997 + Splice_Site SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:66943997C>T ENST00000299752.4 - 16 2361 c.e16-1 CDH16_ENST00000570262.1_Splice_Site|CDH16_ENST00000565796.1_Splice_Site|CDH16_ENST00000568632.1_Splice_Site|CDH16_ENST00000394055.3_Splice_Site 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 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) GCATGGGAACCTTTTGGGACA 0.617000 5 50 0 0 0.000602214 0 0 SORL1 6653 broad.mit.edu 37 11 121414377 121414377 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:121414377G>A ENST00000260197.7 + 13 1935 c.1806G>A c.(1804-1806)tcG>tcA p.S602S SORL1_ENST00000532451.1_3'UTR NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 602 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) TCTTTGGCTCGAACAAAGAGA 0.507000 14 109 0 0 0.00074312 0 0 TPO 7173 broad.mit.edu 37 2 1440035 1440035 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:1440035G>A ENST00000345913.4 + 5 452 c.361G>A c.(361-363)Gaa>Aaa p.E121K TPO_ENST00000382201.3_Missense_Mutation_p.E121K|TPO_ENST00000497517.2_Intron|TPO_ENST00000539820.1_Missense_Mutation_p.E121K|TPO_ENST00000337415.3_Missense_Mutation_p.E121K|TPO_ENST00000329066.4_Missense_Mutation_p.E121K|TPO_ENST00000349624.3_Missense_Mutation_p.E121K|TPO_ENST00000382269.3_Missense_Mutation_p.E121K|TPO_ENST00000382198.1_Missense_Mutation_p.E121K|TPO_ENST00000346956.3_Missense_Mutation_p.E121K NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 121 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) TGCTTTATCAGAAGATCTGCT 0.428000 10 74 0 0 0.00010058 0 0 ERC1 23085 broad.mit.edu 37 12 1299088 1299088 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:1299088G>A ENST00000397203.2 + 12 2627 c.2221G>A c.(2221-2223)Gag>Aag p.E741K ERC1_ENST00000355446.5_Missense_Mutation_p.E741K|ERC1_ENST00000543086.3_Missense_Mutation_p.E713K|ERC1_ENST00000360905.4_Missense_Mutation_p.E741K|ERC1_ENST00000546231.2_Missense_Mutation_p.E741K|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000589028.1_Missense_Mutation_p.E741K Q8IUD2 RB6I2_HUMAN ELKS/RAB6-interacting/CAST family member 1 741 I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) ACAGCACTTGGAGAGAGAGAT 0.448000 12 60 0 0 0.000219431 0 0 PRR14L 253143 broad.mit.edu 37 22 32072956 32072956 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr22:32072956G>A ENST00000397493.2 - 9 6420 c.6228C>T c.(6226-6228)ttC>ttT p.F2076F Q5THK1 PR14L_HUMAN proline rich 14-like 2076 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2) 14 CGAATACCAGGAAGTGCCCGG 0.592000 5 38 0 0 0.00116845 0 0 CD84 8832 broad.mit.edu 37 1 160520779 160520779 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:160520779C>T ENST00000368054.3 - 5 842 c.807G>A c.(805-807)agG>agA p.R269R CD84_ENST00000534968.1_Silent_p.R155R|CD84_ENST00000311224.4_Silent_p.R286R|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368051.3_Intron|CD84_ENST00000368048.3_Silent_p.R280R NM_003874.3 NP_003865.1 Q9UIB8 SLAF5_HUMAN CD84 molecule 286 blood coagulation|defense response|homophilic cell adhesion|leukocyte migration integral to plasma membrane receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1) 24 all_cancers(52;3.62e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) GCTGGGTGTTCCTTGAAGCCA 0.443000 29 435 0 0 0.000491102 0 0 KIF18B 146909 broad.mit.edu 37 17 43009476 43009476 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:43009476G>A ENST00000587309.1 - 10 1396 c.1373C>T c.(1372-1374)tCt>tTt p.S458F KIF18B_ENST00000438933.2_Missense_Mutation_p.S458F|KIF18B_ENST00000339151.4_Missense_Mutation_p.S458F|KIF18B_ENST00000590129.1_Missense_Mutation_p.S467F|KIF18B_ENST00000593135.1_Missense_Mutation_p.S446F NM_001264573.1 NP_001251503.1 kinesin family member 18B breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 21 Prostate(33;0.155) CTGGTCTGAAGAGTTCCCTTC 0.637000 6 32 0 0 8.12818e-05 0 0 ZNF701 55762 broad.mit.edu 37 19 53085900 53085900 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:53085900C>T ENST00000540331.1 + 5 1011 c.786C>T c.(784-786)ttC>ttT p.F262F CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Silent_p.F262F|ZNF701_ENST00000391785.3_Silent_p.F196F NM_001172655.1 NP_001166126.1 Q9NV72 ZN701_HUMAN zinc finger protein 701 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(6) 14 OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402) GGAATAATTTCCTCCAGTCTT 0.388000 9 50 0 0 0.000274275 0 0 SVEP1 79987 broad.mit.edu 37 9 113170069 113170069 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:113170069G>A ENST00000401783.2 - 38 8147 c.7811C>T c.(7810-7812)tCc>tTc p.S2604F SVEP1_ENST00000297826.5_Missense_Mutation_p.S530F|SVEP1_ENST00000374469.1_Missense_Mutation_p.S2581F NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2604 Sushi 20. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TGTTGGGATGGAACTTGACCA 0.458000 26 164 0 0 0.000720815 0 0 PSG4 5672 broad.mit.edu 37 19 43699348 43699348 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:43699348C>T ENST00000405312.3 - 4 1024 c.787G>A c.(787-789)Gaa>Aaa p.E263K PSG4_ENST00000433626.2_Missense_Mutation_p.E170K|PSG4_ENST00000244295.9_Intron NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 263 Ig-like C2-type 2. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) CTCTTAGGTTCACAGGTGAAG 0.453000 28 268 0 0 0.000339439 0 0 CCDC158 339965 broad.mit.edu 37 4 77317555 77317555 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:77317555G>A ENST00000388914.3 - 3 307 c.155C>T c.(154-156)cCt>cTt p.P52L CCDC158_ENST00000434846.2_Missense_Mutation_p.P52L|CCDC158_ENST00000504868.1_5'UTR NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 52 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 AGGGAAAAAAGGAACCTGTGT 0.343000 7 71 0 0 0.000157383 0 0 POTEF 728378 broad.mit.edu 37 2 130877882 130877882 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:130877882G>A ENST00000357462.5 - 1 300 c.207C>T c.(205-207)ttC>ttT p.F69F POTEF_ENST00000361163.4_Silent_p.F69F|POTEF_ENST00000360967.5_Silent_p.F69F|POTEF_ENST00000409914.2_Silent_p.F69F A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 69 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 TGCAGCAGGGGAAGCAGTGGC 0.592000 25 222 0 0 0.000227799 0 0 MDC1 9656 broad.mit.edu 37 6 30670353 30670353 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:30670353G>A ENST00000376406.3 - 14 6726 c.6079C>T c.(6079-6081)Ccc>Tcc p.P2027S MDC1_ENST00000376405.2_Missense_Mutation_p.P1763S NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 2027 BRCT 2.|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 GGCATGCTGGGTAGGTATGTG 0.517000 Other conserved DNA damage response genes 12 89 0 0 0.000219431 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138714532 138714532 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:138714532G>A ENST00000389532.4 - 11 2039 c.1975C>T c.(1975-1977)Ccc>Tcc p.P659S CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.P381S|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.P670S NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 659 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) ATGCCCATGGGGAATTCTGAG 0.592000 5 44 0 0 0.000602214 0 0 HSD17B2 3294 broad.mit.edu 37 16 82131706 82131706 + Missense_Mutation SNP G G A rs147477064 TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:82131706G>A ENST00000199936.4 + 5 1022 c.829G>A c.(829-831)Gaa>Aaa p.E277K RP11-510J16.5_ENST00000567021.1_RNA NM_002153.2 NP_002144.1 P37059 DHB2_HUMAN hydroxysteroid (17-beta) dehydrogenase 2 277 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) TGACAAGTGGGAAAAGCTGGA 0.537000 12 55 0 0 0.00010058 0 0 OTOA 146183 broad.mit.edu 37 16 21737937 21737937 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:21737937C>T ENST00000388958.3 + 18 1975 c.1974C>T c.(1972-1974)tcC>tcT p.S658S OTOA_ENST00000286149.4_Silent_p.S672S|OTOA_ENST00000388957.3_Silent_p.S334S|OTOA_ENST00000388956.4_Silent_p.S579S NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 672 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) TTTTAGATTCCCACAAAAAGA 0.557000 7 121 0 0 8.12818e-05 0 0 ZNF385D 79750 broad.mit.edu 37 3 21552450 21552450 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:21552450C>T ENST00000281523.2 - 4 860 c.342G>A c.(340-342)atG>atA p.M114I ZNF385D_ENST00000494118.1_5'UTR NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 114 nucleus nucleic acid binding|zinc ion binding p.M114I(1) NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 GCTTATTTTTCATGGCTTCCA 0.463000 20 69 0 0 0.000175454 0 0 NALCN 259232 broad.mit.edu 37 13 101714437 101714437 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr13:101714437C>T ENST00000251127.6 - 41 4719 c.4638G>A c.(4636-4638)aaG>aaA p.K1546K NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1546 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GCTGCAAGCTCTTCCGGATGT 0.557000 5 34 0 0 0.00116845 0 0 FREM2 341640 broad.mit.edu 37 13 39266139 39266139 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr13:39266139C>T ENST00000280481.7 + 1 4874 c.4658C>T c.(4657-4659)cCt>cTt p.P1553L NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1553 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) CTGATTACTCCTTTTGAGCTC 0.453000 12 92 0 0 0.00010058 0 0 BTBD7 55727 broad.mit.edu 37 14 93728006 93728006 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr14:93728006G>A ENST00000334746.5 - 5 1696 c.1389C>T c.(1387-1389)atC>atT p.I463I BTBD7_ENST00000554565.1_Silent_p.I112I|BTBD7_ENST00000393170.2_Intron NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 463 breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) GATATTTAAGGATATCTTGTT 0.313000 19 118 0 0 0.000958276 0 0 FCGBP 8857 broad.mit.edu 37 19 40362898 40362898 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:40362898C>T ENST00000221347.6 - 32 15179 c.15172G>A c.(15172-15174)Ggc>Agc p.G5058S NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 5058 VWFD 12. 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) GCGAAGGGGCCCTGGGGGTTC 0.652000 6 138 0 0 0.000157383 0 0 SYNE2 23224 broad.mit.edu 37 14 64457194 64457194 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr14:64457194G>A ENST00000358025.3 + 20 2609 c.2379G>A c.(2377-2379)atG>atA p.M793I SYNE2_ENST00000554584.1_Missense_Mutation_p.M793I|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.M793I NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 793 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TGTTACAAATGGATATACAAA 0.368000 12 105 0 0 0.000151284 0 0 AGRN 375790 broad.mit.edu 37 1 985856 985856 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:985856C>T ENST00000379370.2 + 29 5076 c.5026C>T c.(5026-5028)Ctc>Ttc p.L1676F NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 1676 Laminin G-like 2. 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) CCCCAGCGGCCTCCTGCTCTA 0.672000 8 29 0 0 0.000442599 0 0 ANO3 63982 broad.mit.edu 37 11 26569046 26569046 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:26569046G>A ENST00000256737.3 + 12 2090 c.1238G>A c.(1237-1239)gGt>gAt p.G413D ANO3_ENST00000531568.1_Missense_Mutation_p.G267D|ANO3_ENST00000525139.1_Missense_Mutation_p.G397D|ANO3_ENST00000537978.1_Missense_Mutation_p.G397D|ANO3_ENST00000529242.1_3'UTR NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 413 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 GCAATTGTTGGTTTGTGCGTT 0.363000 8 65 0 0 0.000157383 0 0 KDM5D 8284 broad.mit.edu 37 Y 21878556 21878556 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrY:21878556G>A ENST00000541639.1 - 15 2142 c.1855C>T c.(1855-1857)Cct>Tct p.P619S KDM5D_ENST00000317961.4_Missense_Mutation_p.P588S|KDM5D_ENST00000382806.2_Missense_Mutation_p.P531S NM_001146705.1 NP_001140177.1 Q9BY66 KDM5D_HUMAN lysine (K)-specific demethylase 5D 588 JmjC. chromatin modification|spermatogenesis nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding kidney(1)|large_intestine(9)|lung(6)|skin(1) 17 Vitamin C(DB00126) TAAGCACGAGGAAAAGTGATG 0.478000 7 18 0 0 8.12818e-05 0 0 NLRC5 84166 broad.mit.edu 37 16 57113007 57113007 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:57113007C>T ENST00000262510.6 + 44 5352 c.5127C>T c.(5125-5127)gcC>gcT p.A1709A NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Silent_p.A1680A|NLRC5_ENST00000539144.1_Silent_p.A1680A NM_032206.4 NP_115582.4 Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 1709 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) TGAGCCTGGCCCAGGCCCTGG 0.657000 10 114 0 0 0.000151284 0 0 TMPRSS9 360200 broad.mit.edu 37 19 2399192 2399192 + Splice_Site SNP G G C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:2399192G>C ENST00000332578.3 + 3 412 c.e3+1 NM_182973.1 NP_892018.1 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 proteolysis integral to plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 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) GAGCTCACAGGTGAGTGGGCA 0.582000 3 37 0 0 6.4e-05 0 0 NRG3 10718 broad.mit.edu 37 10 84718705 84718705 + Splice_Site SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:84718705G>A ENST00000372142.2 + 7 769 c.494_splice c.e7-1 p.K165_splice NRG3_ENST00000372141.2_Splice_Site_p.K386_splice|NRG3_ENST00000545131.1_Splice_Site_p.K36_splice|NRG3_ENST00000537893.1_Splice_Site_p.K36_splice|NRG3_ENST00000556918.1_Splice_Site_p.K216_splice|NRG3_ENST00000404547.1_Splice_Site_p.K386_splice|NRG3_ENST00000404576.2_Splice_Site_p.K190_splice NM_001165973.1 NP_001159445.1 P56975 NRG3_HUMAN neuregulin 3 386 Ser/Thr-rich. regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) ATGCCTGCAGGAAACAAGCTA 0.388000 13 36 0 0 0.000151284 0 0 OR2G2 81470 broad.mit.edu 37 1 247752313 247752313 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:247752313C>T ENST00000320065.1 + 1 652 c.652C>T c.(652-654)Ctg>Ttg p.L218L 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 2 218 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) CTCATTCATCCTGGTCTCCTC 0.517000 7 102 0 0 8.12818e-05 0 0 SPC25 57405 broad.mit.edu 37 2 169727971 169727971 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:169727971C>T ENST00000282074.2 - 7 786 c.645G>A c.(643-645)cgG>cgA p.R215R NM_020675.3 NP_065726.1 Q9HBM1 SPC25_HUMAN SPC25, NDC80 kinetochore complex component 215 Interaction with the C-terminus of SPBC24. cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1) 9 TAAAAGCTTTCCGAACATTGG 0.333000 5 81 0 0 0.000602214 0 0 AMOT 154796 broad.mit.edu 37 X 112048229 112048229 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:112048229G>A ENST00000371959.3 - 5 1721 c.1722C>T c.(1720-1722)atC>atT p.I574I AMOT_ENST00000371958.1_Silent_p.I342I|AMOT_ENST00000371962.1_Silent_p.I342I|AMOT_ENST00000304758.1_Silent_p.I165I|AMOT_ENST00000524145.1_Silent_p.I574I NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 574 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 CCTGATCTCGGATTTCGATGT 0.547000 42 116 0 0 0.000781405 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23886508 23886508 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:23886508G>A ENST00000264867.2 - 2 220 c.101C>T c.(100-102)cCt>cTt p.P34L PPARGC1A_ENST00000507380.1_Missense_Mutation_p.P34L NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 34 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) ATCAAGTTCAGGAAGATCTGG 0.423000 4 30 0 0 0.00024832 0 0 KCNIP1 30820 broad.mit.edu 37 5 170149737 170149737 + Silent SNP G G A rs147147696 byFrequency TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:170149737G>A ENST00000328939.4 + 5 885 c.348G>A c.(346-348)tcG>tcA p.S116S KCNIP1_ENST00000377360.4_Silent_p.S125S|KCNIP1_ENST00000411494.1_Silent_p.S127S|KCNIP1_ENST00000520740.1_Silent_p.S88S|KCNIP1_ENST00000390656.4_Silent_p.S116S|KCNIP1_ENST00000434108.1_Silent_p.S141S NM_001034837.1|NM_014592.2 NP_001030009.1|NP_055407.1 Q9NZI2 KCIP1_HUMAN Kv channel interacting protein 1 127 EF-hand 2. S -> P (in Ref. 4; BAH13550). detection of calcium ion|signal transduction|synaptic transmission plasma membrane potassium channel activity|voltage-gated ion channel activity p.S127S(1) autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 18 Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297) Medulloblastoma(196;0.0109)|all_neural(177;0.0177) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCGCTCTGTCGATTTTATTGA 0.438000 5 42 0 0 0.00116845 0 0 DBX2 440097 broad.mit.edu 37 12 45410180 45410180 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:45410180G>A ENST00000332700.6 - 4 1080 c.909C>T c.(907-909)atC>atT p.I303I NM_001004329.2 NP_001004329.2 Q6ZNG2 DBX2_HUMAN developing brain homeobox 2 303 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) AACTCTCCTGGATTAGTCTTT 0.483000 10 33 0 0 0.000673444 0 0 ARHGEF4 50649 broad.mit.edu 37 2 131796599 131796599 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:131796599C>T ENST00000392953.3 + 6 1260 c.741C>T c.(739-741)ttC>ttT p.F247F ARHGEF4_ENST00000355771.3_Silent_p.F176F|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000326016.5_Silent_p.F247F|ARHGEF4_ENST00000409303.1_Silent_p.F247F|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000525839.1_Silent_p.F247F NM_032995.1 NP_127462.1 Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor (GEF) 4 247 SH3. apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4) 29 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) CAGCCAGCTTCGTTCGGGTAT 0.577000 5 21 0 0 0.000602214 0 0 OR9A4 130075 broad.mit.edu 37 7 141618810 141618810 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:141618810C>T ENST00000548136.1 + 1 194 c.135C>T c.(133-135)atC>atT p.I45I MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) CAGTCATCATCATGATTGTCT 0.458000 26 158 0 0 0.000720815 0 0 ANKRD22 118932 broad.mit.edu 37 10 90582746 90582746 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:90582746C>T ENST00000371930.4 - 6 738 c.528G>A c.(526-528)cgG>cgA p.R176R ANKRD22_ENST00000476963.1_5'UTR NM_144590.2 NP_653191.2 Q5VYY1 ANR22_HUMAN ankyrin repeat domain 22 176 NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3) 10 Colorectal(252;0.0163) Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05) ATTTTAATCTCCGTGCAATAT 0.403000 25 115 0 0 0.000720815 0 0 ORC3 23595 broad.mit.edu 37 6 88321922 88321922 + Nonsense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:88321922C>T ENST00000392844.3 + 8 877 c.829C>T c.(829-831)Caa>Taa p.Q277* ORC3_ENST00000417380.2_Nonsense_Mutation_p.Q224*|ORC3_ENST00000546266.1_Nonsense_Mutation_p.Q134*|ORC3_ENST00000257789.4_Nonsense_Mutation_p.Q277* NM_012381.3|NM_181837.2 NP_036513.2|NP_862820.1 Q9UBD5 ORC3_HUMAN origin recognition complex, subunit 3 277 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 28 AGAACTGTTCCAATCTTTGTC 0.363000 9 57 0 0 0.000274275 0 0 METTL21C 196541 broad.mit.edu 37 13 103346731 103346731 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr13:103346731C>T ENST00000267273.6 - 1 123 c.118G>A c.(118-120)Gga>Aga p.G40R NM_001010977.1 NP_001010977.1 Q5VZV1 MT21C_HUMAN methyltransferase like 21C 40 methyltransferase activity breast(1)|large_intestine(3)|lung(2)|skin(1) 7 TCTAGGACTCCCCCGGTGCTG 0.547000 7 44 0 0 0.000274275 0 0 MYO1C 4641 broad.mit.edu 37 17 1375289 1375289 + Nonsense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:1375289G>A ENST00000359786.5 - 19 2257 c.1933C>T c.(1933-1935)Cag>Tag p.Q645* MYO1C_ENST00000575158.1_Nonsense_Mutation_p.Q610*|MYO1C_ENST00000545534.2_Nonsense_Mutation_p.Q621*|MYO1C_ENST00000438665.2_Nonsense_Mutation_p.Q626*|MYO1C_ENST00000361007.2_Nonsense_Mutation_p.Q610* NM_001080779.1 NP_001074248.1 O00159 MYO1C_HUMAN myosin IC 645 Myosin head-like. mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) TACTTCACCTGGTGGCGGATC 0.667000 7 116 0 0 0.000157383 0 0 GJA5 2702 broad.mit.edu 37 1 147230425 147230425 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:147230425G>A ENST00000271348.2 - 2 1083 c.922C>T c.(922-924)Cct>Tct p.P308S GJA5_ENST00000369237.1_Missense_Mutation_p.P308S|RP11-433J22.2_ENST00000428911.1_RNA NM_005266.5|NM_181703.2 NP_005257.2|NP_859054.1 P36382 CXA5_HUMAN gap junction protein, alpha 5, 40kDa 308 angiogenesis|cell-cell junction assembly|muscle contraction integral to membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 20 all_hematologic(923;0.0276) LUSC - Lung squamous cell carcinoma(543;0.202) CCTTCCCCAGGAGTCTGCTCC 0.527000 8 118 0 0 0.000274275 0 0 CLCN3 1182 broad.mit.edu 37 4 170618716 170618716 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:170618716C>T ENST00000513761.1 + 9 1953 c.1394C>T c.(1393-1395)cCc>cTc p.P465L CLCN3_ENST00000360642.3_Missense_Mutation_p.P438L|CLCN3_ENST00000347613.4_Missense_Mutation_p.P465L|CLCN3_ENST00000504131.2_Missense_Mutation_p.P448L NM_001829.3 NP_001820.2 P51790 CLCN3_HUMAN chloride channel, voltage-sensitive 3 465 endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 29 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) GACTGTGGTCCCCTGGAATCC 0.423000 11 80 0 0 0.00010058 0 0 CTCFL 140690 broad.mit.edu 37 20 56093858 56093858 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:56093858C>T ENST00000426658.2 - 4 1676 c.1015G>A c.(1015-1017)Gag>Aag p.E339K CTCFL_ENST00000481655.1_5'UTR|CTCFL_ENST00000423479.2_Missense_Mutation_p.E339K|CTCFL_ENST00000502686.2_Missense_Mutation_p.E77K|CTCFL_ENST00000371196.2_Missense_Mutation_p.E339K|CTCFL_ENST00000433949.2_Missense_Mutation_p.E339K|CTCFL_ENST00000422109.2_Missense_Mutation_p.E339K|CTCFL_ENST00000539382.1_Missense_Mutation_p.E134K|CTCFL_ENST00000432255.2_Missense_Mutation_p.E339K|CTCFL_ENST00000429804.2_Missense_Mutation_p.E339K|CTCFL_ENST00000243914.3_Missense_Mutation_p.E339K|CTCFL_ENST00000422869.2_Missense_Mutation_p.E339K Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 339 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) AAGGGTTTCTCATGAGTATGT 0.458000 16 131 0 0 0.000566183 0 0 IFT80 57560 broad.mit.edu 37 3 160000378 160000378 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:160000378C>T ENST00000326448.7 - 14 1836 c.1404G>A c.(1402-1404)ctG>ctA p.L468L IFT80_ENST00000496589.1_Silent_p.L331L|IFT80_ENST00000483465.1_Silent_p.L331L|RP11-432B6.3_ENST00000483754.1_Silent_p.L639L NM_020800.2 NP_065851.1 Q9P2H3 IFT80_HUMAN intraflagellar transport 80 homolog (Chlamydomonas) 468 cilium axoneme|microtubule basal body NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) CTTTTTGATCCAGAGCAATTT 0.269000 7 47 0 0 0.000274275 0 0 MYH7B 57644 broad.mit.edu 37 20 33568416 33568416 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr20:33568416C>T ENST00000262873.7 + 6 596 c.504C>T c.(502-504)ccC>ccT p.P168P MYH7B_ENST00000481922.1_3'UTR NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 126 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) CCATCAACCCCTACAAATGGC 0.522000 19 195 0 0 0.000295444 0 0 VPS13B 157680 broad.mit.edu 37 8 100883688 100883688 + Missense_Mutation SNP G G C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:100883688G>C ENST00000358544.2 + 61 11694 c.11583G>C c.(11581-11583)caG>caC p.Q3861H VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.Q3836H NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3861 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) AAATGCTTCAGTCTCTGGGCA 0.522000 20 136 0 0 0.000295444 0 0 DMXL1 1657 broad.mit.edu 37 5 118582703 118582703 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:118582703C>T ENST00000311085.8 + 43 8953 c.8873C>T c.(8872-8874)tCt>tTt p.S2958F DMXL1_ENST00000505312.1_3'UTR|DMXL1_ENST00000539542.1_Missense_Mutation_p.S2979F NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 2958 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) TGGAGTCTCTCTACCTTTGGT 0.428000 9 66 0 0 0.000673444 0 0 GPR63 81491 broad.mit.edu 37 6 97247113 97247113 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:97247113C>T ENST00000229955.3 - 2 840 c.495G>A c.(493-495)gtG>gtA p.V165V GPR63_ENST00000417980.1_Silent_p.V165V NM_001143957.2|NM_030784.3 NP_001137429.1|NP_110411.1 Q9BZJ6 GPR63_HUMAN G protein-coupled receptor 63 165 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0912) CTCCTTCTATCACAAATAACC 0.408000 6 73 0 0 0.000157383 0 0 SPACA3 124912 broad.mit.edu 37 17 31323938 31323938 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:31323938G>A ENST00000580599.1 + 4 623 c.214G>A c.(214-216)Ggg>Agg p.G72R SPACA3_ENST00000269053.3_Missense_Mutation_p.G141R|SPACA3_ENST00000394638.1_Missense_Mutation_p.G38R|SPACA3_ENST00000394637.2_3'UTR Q8IXA5 SACA3_HUMAN sperm acrosome associated 3 141 cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus acrosomal membrane|extracellular region|integral to membrane|lysosome bacterial cell surface binding|lysozyme activity|protein binding breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(9;0.193) CACCAACAACGGGATCTTCCA 0.592000 6 86 0 0 8.12818e-05 0 0 CECR2 27443 broad.mit.edu 37 22 18028054 18028054 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr22:18028054C>T ENST00000262608.8 + 16 3014 c.3014C>T c.(3013-3015)cCc>cTc p.P1005L CECR2_ENST00000400585.2_Missense_Mutation_p.P862L|CECR2_ENST00000400573.4_Missense_Mutation_p.P1004L NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 1046 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) AATCCCTGGCCCTCGGATAGC 0.602000 5 29 0 0 0.00116845 0 0 MAP3K9 4293 broad.mit.edu 37 14 71227825 71227825 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr14:71227825G>A ENST00000554752.2 - 3 894 c.895C>T c.(895-897)Cgg>Tgg p.R299W MAP3K9_ENST00000554146.1_Missense_Mutation_p.R36W|MAP3K9_ENST00000553414.1_5'UTR|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R299W|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R299W P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 299 Protein kinase. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) TGCCATTCCCGAGCCAGGCCA 0.507000 7 54 0 0 0.000157383 0 0 MMP3 4314 broad.mit.edu 37 11 102710968 102710968 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:102710968G>A ENST00000299855.5 - 6 1062 c.806C>T c.(805-807)tCc>tTc p.S269F NM_002422.3 NP_002413.1 P08254 MMP3_HUMAN matrix metallopeptidase 3 (stromelysin 1, progelatinase) 269 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.S269F(1) endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0142) Marimastat(DB00786)|Simvastatin(DB00641) GGTCTCAGGGGAGTCAGGGGG 0.517000 7 51 0 0 0.000157383 0 0 LNX1 84708 broad.mit.edu 37 4 54374236 54374236 + Missense_Mutation SNP T T G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:54374236T>G ENST00000306888.2 - 2 502 c.251A>C c.(250-252)gAc>gCc p.D84A LNX1-AS1_ENST00000514364.1_RNA|LNX1-AS1_ENST00000511989.1_RNA|LNX1_ENST00000263925.7_Missense_Mutation_p.D180A|FIP1L1_ENST00000507166.1_Intron|LNX1-AS1_ENST00000510785.1_RNA NM_032622.2 NP_116011.2 Q8TBB1 LNX1_HUMAN ligand of numb-protein X 1, E3 ubiquitin protein ligase 180 cytoplasm zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4) 32 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) GGCAGGGTTGTCTAGGCCAGG 0.627000 6 33 0 0 8.12818e-05 0 0 PDZD2 23037 broad.mit.edu 37 5 31799732 31799732 + Missense_Mutation SNP A A G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:31799732A>G ENST00000438447.1 + 2 765 c.377A>G c.(376-378)aAg>aGg p.K126R PDZD2_ENST00000282493.3_Missense_Mutation_p.K126R O15018 PDZD2_HUMAN PDZ domain containing 2 126 PDZ 1. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GAGCTGAGGAAGAACAGCCCA 0.587000 13 61 0 0 0.000219431 0 0 TCL6 27004 broad.mit.edu 37 14 96134850 96134850 + RNA SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr14:96134850G>A ENST00000467865.1 + 0 1821 RP11-1070N10.6_ENST00000461160.1_RNA large_intestine(1)|lung(7) 8 all_cancers(154;0.103) Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207) CTACAGTTTGGAGCCCACATA 0.498000 T TRA@ T-ALL 10 112 0 0 0.000978159 0 0 LRRN1 57633 broad.mit.edu 37 3 3887642 3887642 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:3887642C>T ENST00000319331.3 + 2 2078 c.1317C>T c.(1315-1317)atC>atT p.I439I SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 439 Ig-like C2-type. integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) ACGTGGATATCGGCACGACGG 0.468000 8 54 0 0 0.000157383 0 0 CR2 1380 broad.mit.edu 37 1 207641876 207641876 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:207641876C>T ENST00000367057.3 + 3 639 c.450C>T c.(448-450)ttC>ttT p.F150F CR2_ENST00000367059.3_Silent_p.F150F|CR2_ENST00000367058.3_Silent_p.F150F|CR2_ENST00000458541.2_Silent_p.F150F|CR2_ENST00000485707.1_3'UTR NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 150 complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 GTAAAGTTTTCCCTCTCGAGT 0.463000 15 33 0 0 0.00074312 0 0 IBSP 3381 broad.mit.edu 37 4 88731793 88731793 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:88731793G>A ENST00000226284.5 + 6 349 c.282G>A c.(280-282)tcG>tcA p.S94S NM_004967.3 NP_004958.2 P21815 SIAL_HUMAN integrin-binding sialoprotein 94 Asp/Glu-rich (acidic). S -> L (in Ref. 3; AAC37560). biomineral tissue development|cell adhesion|ossification breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10) 21 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154) ATGAAGAATCGAATGAAGATG 0.403000 13 80 0 0 0.000422831 0 0 CDH12 1010 broad.mit.edu 37 5 22078746 22078746 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:22078746G>A ENST00000382254.1 - 5 1126 c.40C>T c.(40-42)Ctg>Ttg p.L14L CDH12_ENST00000522262.1_Silent_p.L14L|CDH12_ENST00000504376.2_Silent_p.L14L NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 14 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.L14M(1) NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 CCATCAAACAGAACCCAGAGA 0.453000 HNSCC(59;0.17) 10 99 0 0 0.000978159 0 0 ACSL6 23305 broad.mit.edu 37 5 131326618 131326618 + Nonsense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:131326618G>A ENST00000379264.2 - 3 421 c.313C>T c.(313-315)Cag>Tag p.Q105* ACSL6_ENST00000357096.1_Nonsense_Mutation_p.Q45*|ACSL6_ENST00000296869.4_Nonsense_Mutation_p.Q105*|ACSL6_ENST00000379240.1_Nonsense_Mutation_p.Q80*|ACSL6_ENST00000379249.3_Nonsense_Mutation_p.Q80*|ACSL6_ENST00000379246.1_Nonsense_Mutation_p.Q91*|ACSL6_ENST00000379244.1_Nonsense_Mutation_p.Q80*|ACSL6_ENST00000379255.1_Nonsense_Mutation_p.Q45*|ACSL6_ENST00000379272.2_Nonsense_Mutation_p.Q80*|ACSL6_ENST00000543479.1_Nonsense_Mutation_p.Q80*|ACSL6_ENST00000431707.1_Nonsense_Mutation_p.Q45*|ACSL6_ENST00000544770.1_5'UTR NM_001009185.2 NP_001009185.1 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 80 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GTAAGTAGCTGAGGGCCAGAC 0.612000 5 52 0 0 0.00116845 0 0 LRG1 116844 broad.mit.edu 37 19 4538663 4538663 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:4538663G>A ENST00000306390.6 - 2 793 c.333C>T c.(331-333)ttC>ttT p.F111F CTB-50L17.14_ENST00000586020.1_Intron|LRG1_ENST00000586883.1_5'UTR NM_052972.2 NP_443204.1 P02750 A2GL_HUMAN leucine-rich alpha-2-glycoprotein 1 111 extracellular region|membrane NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) CTGGCCGCAGGAATTCGGGCG 0.652000 5 53 0 0 0.00116845 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64629877 64629877 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:64629877C>T ENST00000536360.1 - 8 1922 c.1109G>A c.(1108-1110)gGa>gAa p.G370E Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 6 370 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) ACCCAGTGTTCCACAGGGCTT 0.259000 7 20 0 0 8.12818e-05 0 0 AIM1 202 broad.mit.edu 37 6 106969219 106969219 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:106969219C>T ENST00000369066.3 + 2 3399 c.2912C>T c.(2911-2913)tCa>tTa p.S971L NM_001624.2 NP_001615.1 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 971 sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) GTTATTAAATCAAACTTGCCA 0.363000 9 68 0 0 0.000442599 0 0 PTPRS 5802 broad.mit.edu 37 19 5207951 5207951 + Silent SNP C C A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:5207951C>A ENST00000372412.4 - 37 5996 c.5763G>T c.(5761-5763)ccG>ccT p.P1921P PTPRS_ENST00000592099.1_Silent_p.P1473P|PTPRS_ENST00000588012.1_Silent_p.P1882P|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000587303.1_Silent_p.P1920P|PTPRS_ENST00000357368.4_Silent_p.P1920P|PTPRS_ENST00000353284.2_Silent_p.P1473P|PTPRS_ENST00000348075.2_Silent_p.P1882P|PTPRS_ENST00000262963.6_Silent_p.P1900P Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 1920 Tyrosine-protein phosphatase 2. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GCACCATGGCCGGCCGCTGGG 0.607000 5 116 0.00116845 0.00960186 0.00116845 1 0 ZNF835 90485 broad.mit.edu 37 19 57176174 57176174 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr19:57176174G>A ENST00000537055.2 - 2 624 c.393C>T c.(391-393)atC>atT p.I131I NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 CCCCGGTGTGGATTCTCTGGT 0.637000 12 39 0 0 0.000422831 0 0 XIRP1 165904 broad.mit.edu 37 3 39226215 39226215 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:39226215G>A ENST00000340369.3 - 2 4950 c.4722C>T c.(4720-4722)ttC>ttT p.F1574F XIRP1_ENST00000421646.1_Silent_p.F257F|XIRP1_ENST00000396251.1_3'UTR NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1574 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GAGGTCCCTGGAAATGGCCTC 0.587000 19 174 0 0 0.00074312 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21349938 21349938 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:21349938C>T ENST00000256958.2 + 8 882 c.786C>T c.(784-786)ttC>ttT p.F262F NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 262 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) GGCTTAATTTCCTTGTGTCTG 0.363000 8 84 0 0 0.000157383 0 0 ACOXL 55289 broad.mit.edu 37 2 111559251 111559251 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:111559251G>A ENST00000389811.4 + 8 794 c.570G>A c.(568-570)ggG>ggA p.G190G ACOXL_ENST00000340561.4_Silent_p.G190G|ACOXL_ENST00000439055.1_Silent_p.G190G Q9NUZ1 ACOXL_HUMAN acyl-CoA oxidase-like 190 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1) 21 TGGACAATGGGATATTAATAT 0.468000 7 84 0 0 0.000442599 0 0 PIWIL3 440822 broad.mit.edu 37 22 25120978 25120978 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr22:25120978C>T ENST00000332271.5 - 18 2550 c.2134G>A c.(2134-2136)Gaa>Aaa p.E712K PIWIL3_ENST00000533313.1_Missense_Mutation_p.E594K|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.E594K NM_001008496.3|NM_001255975.1 NP_001008496.2|NP_001242904.1 Q7Z3Z3 PIWL3_HUMAN piwi-like RNA-mediated gene silencing 3 712 Piwi. cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 ATCGATGATTCGTTTTTACAC 0.418000 5 49 0 0 0.000602214 0 0 FBXW10 10517 broad.mit.edu 37 17 18682422 18682422 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:18682422G>A ENST00000308799.4 + 12 3216 c.2997G>A c.(2995-2997)gtG>gtA p.V999V FBXW10_ENST00000395665.4_Silent_p.V990V|FBXW10_ENST00000395667.1_Silent_p.V989V|FBXW10_ENST00000301938.4_Silent_p.V937V Q5XX13 FBW10_HUMAN F-box and WD repeat domain containing 10 990 NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 TGTTGACCGTGAAGGAGGAGA 0.512000 14 89 0 0 0.00074312 0 0 XDH 7498 broad.mit.edu 37 2 31621540 31621540 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:31621540G>A ENST00000379416.3 - 5 380 c.332C>T c.(331-333)tCc>tTc p.S111F NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 111 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) CCCGCACTGGGAGCCGTGGCT 0.557000 14 125 0 0 0.00074312 0 0 ARSH 347527 broad.mit.edu 37 X 2931198 2931198 + Missense_Mutation SNP C C A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:2931198C>A ENST00000381130.2 + 3 325 c.325C>A c.(325-327)Cgc>Agc p.R109S NM_001011719.1 NP_001011719.1 Q5FYA8 ARSH_HUMAN arylsulfatase family, member H 109 integral to membrane arylsulfatase activity|metal ion binding breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1) 34 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) CCGTGGCTACCGCACGGGACT 0.577000 5 56 0.00116845 0.00960186 0.00116845 1 0 KCNH7 90134 broad.mit.edu 37 2 163393492 163393492 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:163393492C>T ENST00000332142.5 - 3 505 c.406G>A c.(406-408)Gaa>Aaa p.E136K KCNH7_ENST00000328032.4_Missense_Mutation_p.E136K NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 136 PAC. regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) GCAGCGTTTTCATTATCCGTC 0.383000 11 61 0 0 0.00010058 0 0 RXFP2 122042 broad.mit.edu 37 13 32355829 32355829 + Silent SNP A A T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr13:32355829A>T ENST00000298386.2 + 10 878 c.807A>T c.(805-807)atA>atT p.I269I RXFP2_ENST00000380314.1_Silent_p.I269I NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 269 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) GCAATAGAATAAAGTATCTCA 0.338000 5 43 0 0 0.000602214 0 0 WNK1 65125 broad.mit.edu 37 12 978198 978198 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:978198C>T ENST00000537687.1 + 9 3949 c.3306C>T c.(3304-3306)ttC>ttT p.F1102F WNK1_ENST00000535572.1_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000530271.2_Silent_p.F1187F|WNK1_ENST00000574564.1_Silent_p.F401F NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 848 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) TCTTCTGTTTCCCCCAAGGAA 0.463000 45 365 0 0 0.000781405 0 0 LRP11 84918 broad.mit.edu 37 6 150164123 150164123 + Silent SNP T T C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr6:150164123T>C ENST00000239367.2 - 3 914 c.909A>G c.(907-909)acA>acG p.T303T LRP11_ENST00000367368.2_Silent_p.T303T|LRP11_ENST00000546019.1_Silent_p.T48T NM_032832.5 NP_116221.3 Q86VZ4 LRP11_HUMAN low density lipoprotein receptor-related protein 11 303 PKD. integral to membrane receptor activity cervix(1)|kidney(5)|large_intestine(1)|lung(1) 8 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225) TCTCACCTCCTGTGGAGTAGG 0.592000 11 58 0 0 0.000151284 0 0 KRTAP3-2 83897 broad.mit.edu 37 17 39156007 39156007 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:39156007G>A ENST00000391587.1 - 1 131 c.99C>T c.(97-99)ccC>ccT p.P33P NM_031959.2 NP_114165.1 Q9BYR7 KRA32_HUMAN keratin associated protein 3-2 33 3 X 5 AA repeats of C-C-X(3). keratin filament structural molecule activity endometrium(1)|large_intestine(1)|lung(1) 3 Breast(137;0.00043) GGCAGGTGCTGGGCAGGCAGA 0.627000 14 74 0 0 0.000219431 0 0 RP1 6101 broad.mit.edu 37 8 55539962 55539962 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:55539962G>A ENST00000220676.1 + 4 3668 c.3520G>A c.(3520-3522)Gag>Aag p.E1174K NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1174 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) AGCTATCACAGAGGAAGCTGA 0.408000 6 57 0 0 0.00116845 0 0 LSG1 55341 broad.mit.edu 37 3 194369449 194369449 + Nonsense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:194369449G>A ENST00000265245.5 - 11 1818 c.1504C>T c.(1504-1506)Cga>Tga p.R502* NM_018385.2 NP_060855.2 Q9H089 LSG1_HUMAN large 60S subunit nuclear export GTPase 1 502 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9) 16 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) GTTGGAGGTCGGTGGGGATCT 0.393000 25 71 0 0 0.000586117 0 0 PTEN 5728 broad.mit.edu 37 10 89692829 89692829 + Missense_Mutation SNP T T G TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr10:89692829T>G ENST00000371953.3 + 5 1670 c.313T>G c.(313-315)Tgt>Ggt p.C105G NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 105 Phosphatase tensin-type. C -> F (in BZS; loss of phosphatase activity towards Ins(1,3,4,5)P4).|C -> Y (in BZS). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.C105fs*2(1)|p.C105G(1)|p.C105R(1)|p.F56fs*2(1)|p.P103fs*3(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) CAAACCCTTTTGTGAAGATCT 0.378000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 11 56 0 0 0.000151284 0 0 DNAH11 8701 broad.mit.edu 37 7 21805064 21805064 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:21805064C>T ENST00000328843.6 + 56 9011 c.8980C>T c.(8980-8982)Cca>Tca p.P2994S DNAH11_ENST00000409508.3_Missense_Mutation_p.P2987S Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2994 AAA 4 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GTGTTTCTCTCCAGTTGGTCG 0.502000 Kartagener syndrome 14 157 0 0 0.000566183 0 0 ATP10B 23120 broad.mit.edu 37 5 160114835 160114835 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:160114835G>A ENST00000327245.5 - 5 1093 c.247C>T c.(247-249)Ccc>Tcc p.P83S CTC-529G1.1_ENST00000524198.1_RNA|ATP10B_ENST00000518411.1_5'UTR NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 83 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(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGATTCCGGGGCAGGAAGGTG 0.463000 7 111 0 0 0.000274275 0 0 SHANK2 22941 broad.mit.edu 37 11 70333016 70333016 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr11:70333016C>T ENST00000338508.4 - 32 3384 c.3385G>A c.(3385-3387)Gag>Aag p.E1129K SHANK2_ENST00000449833.2_Missense_Mutation_p.E533K|SHANK2_ENST00000423696.2_Missense_Mutation_p.E749K|SHANK2_ENST00000409161.1_Missense_Mutation_p.E532K Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 749 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TCCCCCTCCTCGGGGAACATG 0.677000 10 46 0 0 0.000673444 0 0 HGD 3081 broad.mit.edu 37 3 120352111 120352111 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr3:120352111G>A ENST00000283871.5 - 13 1530 c.1071C>T c.(1069-1071)ttC>ttT p.F357F NM_000187.3 NP_000178.2 Q93099 HGD_HUMAN homogentisate 1,2-dioxygenase 357 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2) 25 GBM - Glioblastoma multiforme(114;0.158) CCCCTGGCAGGAACCCACCTT 0.522000 10 152 0 0 0.00010058 0 0 COL9A2 1298 broad.mit.edu 37 1 40775782 40775782 + Splice_Site SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:40775782C>T ENST00000372748.3 - 15 889 c.e15+1 NM_001852.3 NP_001843.1 Q14055 CO9A2_HUMAN collagen, type IX, alpha 2 axon guidance|skeletal system development collagen type IX endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2) 22 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) AAGAGGCTTACCGGTGGCCCA 0.607000 16 102 0 0 0.00121646 0 0 PREX2 80243 broad.mit.edu 37 8 68999972 68999972 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr8:68999972C>T ENST00000288368.4 + 19 2318 c.2041C>T c.(2041-2043)Cca>Tca p.P681S RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 681 PDZ 2. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 AGTGAAAATTCCAGATTCAGC 0.428000 17 112 0 0 0.00121646 0 0 ZNF142 7701 broad.mit.edu 37 2 219510929 219510929 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr2:219510929G>A ENST00000411696.2 - 6 2195 c.1416C>T c.(1414-1416)ctC>ctT p.L472L ZNF142_ENST00000449707.1_Silent_p.L472L P52746 ZN142_HUMAN zinc finger protein 142 472 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) TGTGCACACGGAGGTAGTGCT 0.522000 12 112 0 0 0.000978159 0 0 TLDC1 57707 broad.mit.edu 37 16 84520567 84520567 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr16:84520567G>A ENST00000343629.6 - 5 810 c.628C>T c.(628-630)Ctg>Ttg p.L210L TLDC1_ENST00000535580.1_Silent_p.L183L NM_020947.3 NP_065998.3 TBC/LysM-associated domain containing 1 ACCACACTCAGGAATATGGCC 0.562000 8 56 0 0 0.000157383 0 0 LPAR4 2846 broad.mit.edu 37 X 78011429 78011429 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:78011429G>A ENST00000435339.2 + 2 1468 c.1063G>A c.(1063-1065)Gat>Aat p.D355N LPAR4_ENST00000373301.2_Missense_Mutation_p.D355N NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 355 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 GGAAGTGAGTGATCAAACAAC 0.398000 7 16 0 0 8.12818e-05 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128994424 128994424 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr5:128994424G>A ENST00000274487.4 + 15 2546 c.2401G>A c.(2401-2403)Gga>Aga p.G801R CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 801 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) TCACACCAGAGGAGCAGGTAA 0.318000 7 74 0 0 0.000274275 0 0 FAM129A 116496 broad.mit.edu 37 1 184764533 184764533 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:184764533G>A ENST00000367511.3 - 14 2558 c.2365C>T c.(2365-2367)Cca>Tca p.P789S FAM129A_ENST00000487074.1_5'UTR NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 789 Glu-rich. negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 CCTACCTCTGGAAATCCCCCC 0.662000 25 213 0 0 0.000720815 0 0 SYPL1 6856 broad.mit.edu 37 7 105732265 105732265 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:105732265G>A ENST00000455385.2 - 5 834 c.712C>T c.(712-714)Cct>Tct p.P238S SYPL1_ENST00000470347.1_3'UTR|SYPL1_ENST00000011473.2_Missense_Mutation_p.P256S NM_182715.2 NP_874384.1 Q16563 SYPL1_HUMAN synaptophysin-like 1 256 synaptic transmission cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle transporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1) 7 ATTCCGGTAGGAGGTGGAATA 0.408000 6 62 0 0 0.000274275 0 0 ANKFN1 162282 broad.mit.edu 37 17 54431343 54431343 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr17:54431343C>T ENST00000566473.2 + 5 546 c.546C>T c.(544-546)atC>atT p.I182I ANKFN1_ENST00000318698.2_Silent_p.I182I Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 182 NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 ATATTGCCATCATGACCAACA 0.468000 6 28 0 0 8.12818e-05 0 0 CCDC92 80212 broad.mit.edu 37 12 124421898 124421898 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr12:124421898C>T ENST00000545135.1 - 3 3948 c.652G>A c.(652-654)Gaa>Aaa p.E218K CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545891.1_Missense_Mutation_p.E218K|CCDC92_ENST00000238156.3_Missense_Mutation_p.E235K Q53HC0 CCD92_HUMAN coiled-coil domain containing 92 235 large_intestine(5)|lung(2) 7 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242) TCCACTGGTTCCCGCAAAAGG 0.602000 7 75 0 0 0.000157383 0 0 TMEM52 339456 broad.mit.edu 37 1 1850628 1850636 + In_Frame_Del DEL AGCGGCAGG AGCGGCAGG - TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:1850628_1850636delAGCGGCAGG ENST00000310991.3 - 1 76_84 c.69_77delCCTGCCGCT c.(67-78)ctg>ct p.LLPL23del NM_178545.3 NP_848640.1 Q8NDY8 TMM52_HUMAN transmembrane protein 52 23 integral to membrane NS(1)|prostate(1)|stomach(1) 3 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;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CACCTgcggcagcggcaggagcggcagga 0.766 7 2 --- --- --- --- CCDC30 728621 broad.mit.edu 37 1 43002200 43002201 + Frame_Shift_Del DEL AG AG - TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr1:43002200_43002201delAG ENST00000428554.2 + 9 1188_1189 c.45_46delAG c.(43-48)aaagfs p.KE15fs CCDC30_ENST00000340612.4_Frame_Shift_Del_p.KE15fs|CCDC30_ENST00000342022.4_Frame_Shift_Del_p.KE15fs|CCDC30_ENST00000507855.1_Intron Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 15 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 30 AGTGGTCAAAAGAGAGAGAGAG 0.356 7 79 --- --- --- --- FAM193A 8603 broad.mit.edu 37 4 2701860 2701861 + Frame_Shift_Del DEL CT CT - TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr4:2701860_2701861delCT ENST00000324666.5 + 17 3439_3440 c.3088_3089delCT c.(3088-3090)cfs p.L1030fs FAM193A_ENST00000545951.1_Frame_Shift_Del_p.L1030fs|FAM193A_ENST00000502458.1_Frame_Shift_Del_p.L1052fs|FAM193A_ENST00000382839.3_Frame_Shift_Del_p.L1030fs|FAM193A_ENST00000505311.1_Frame_Shift_Del_p.L1030fs NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 1030 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 GCATGAGCCACTCTCTTTTTTC 0.574 10 114 --- --- --- --- AC004901.1 0 broad.mit.edu 37 7 46985191 46985191 + RNA DEL G G - TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr7:46985191delG ENST00000433337.1 - 0 237 GTCACACCCTGGAGAGGGGAG 0.537 2 4 --- --- --- --- SHB 6461 broad.mit.edu 37 9 38068209 38068209 + Frame_Shift_Del DEL C C - TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr9:38068209delC ENST00000377707.3 - 1 999 c.434delG c.(433-435)gcfs p.G145fs SHB_ENST00000377700.4_Frame_Shift_Del_p.G145fs|RP11-613M10.9_ENST00000540557.1_Frame_Shift_Del_p.G145fs NM_003028.2 NP_003019.2 Q15464 SHB_HUMAN Src homology 2 domain containing adaptor protein B 145 Mediates interaction with LAT, FAK1, JAK1 and JAK3. angiogenesis|apoptosis|cell differentiation|signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1) 11 all_epithelial(88;0.122) GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658) GGCCCCCGCGCCCGAGGAGGC 0.781 2 4 --- --- --- --- IFNGR2 3460 broad.mit.edu 37 21 34799292 34799292 + Frame_Shift_Del DEL T T - TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chr21:34799292delT ENST00000290219.6 + 4 1162 c.514delT c.(514-516)ttfs p.F173fs IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs|IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs NM_005534.3 NP_005525.2 P38484 INGR2_HUMAN interferon gamma receptor 2 (interferon gamma transducer 1) 173 Fibronectin type-III 2. regulation of interferon-gamma-mediated signaling pathway|response to virus endoplasmic reticulum|integral to plasma membrane interferon-gamma receptor activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1) 13 Interferon gamma-1b(DB00033) CTCCACGGCCTTTTTTTGTTA 0.458 7 450 --- --- --- --- DDX3X 1654 broad.mit.edu 37 X 41203517 41203523 + Frame_Shift_Del DEL CTTGCGT CTTGCGT - TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 079bbf44-29e6-415b-9523-150f042977bc 2df6c915-6b31-4158-8bd3-26833e310d39 g.chrX:41203517_41203523delCTTGCGT ENST00000399959.2 + 10 1745_1751 c.890_896delCTTGCGT c.(889-897)cgfs p.PCV297fs DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000457138.2_Frame_Shift_Del_p.PCV281fs|DDX3X_ENST00000478993.1_3'UTR NM_001193416.1|NM_001193417.1|NM_001356.3 NP_001180345.1|NP_001180346.1|NP_001347.3 O00571 DDX3X_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked 297 Helicase ATP-binding.|Necessary for interaction with XPO1. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 AGAGTTCGTCCTTGCGTGGTTTATGGT 0.377 HNSCC(61;0.18) 30 140 --- --- --- ---