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 IGHG4 3503 broad.mit.edu 37 14 106092259 106092259 + RNA SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr14:106092259C>T ENST00000390543.2 - 0 144 GTGTGCACGCCGCTGGTCAGG 0.652000 9 65 0 0 1 0 0 FER1L5 90342 broad.mit.edu 37 2 97361486 97361486 + RNA SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr2:97361486C>T ENST00000457909.1 + 0 3405 A0AVI2 FR1L5_HUMAN fer-1-like 5 (C. elegans) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 38 CAGCTCATGCCGACGGAGGAG 0.642000 7 14 0 0 1 0 0 CNKSR2 22866 broad.mit.edu 37 X 21515965 21515965 + Splice_Site SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chrX:21515965G>A ENST00000425654.2 + 7 1221 c.e7+1 CNKSR2_ENST00000379510.3_Splice_Site|CNKSR2_ENST00000543067.1_Splice_Site|CNKSR2_ENST00000279451.4_Splice_Site NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 CACAGAAAATGTAAGTATTCT 0.308000 15 8 0 0 1 0 0 CLDND1 56650 broad.mit.edu 37 3 98240121 98240121 + Missense_Mutation SNP T T A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr3:98240121T>A ENST00000503004.1 - 2 1027 c.148A>T c.(148-150)Atc>Ttc p.I50F CLDND1_ENST00000508503.1_5'UTR|CLDND1_ENST00000507874.1_Missense_Mutation_p.I50F|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000437922.1_Missense_Mutation_p.I73F|CLDND1_ENST00000394181.2_Missense_Mutation_p.I50F|CLDND1_ENST00000394185.2_Missense_Mutation_p.I50F|CLDND1_ENST00000341181.6_Missense_Mutation_p.I50F|CLDND1_ENST00000513287.1_Missense_Mutation_p.I50F|CLDND1_ENST00000394180.2_Missense_Mutation_p.I50F|CLDND1_ENST00000511081.1_Intron|CLDND1_ENST00000510545.1_Missense_Mutation_p.I50F Q9NY35 CLDN1_HUMAN claudin domain containing 1 50 integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 9 TCATCCCAGATGCTTTTATTC 0.413000 33 63 0 0 1 0 0 ADM2 79924 broad.mit.edu 37 22 50921172 50921172 + Missense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr22:50921172C>T ENST00000395738.2 + 2 579 c.287C>T c.(286-288)tCg>tTg p.S96L ADM2_ENST00000362068.2_Missense_Mutation_p.R13W|ADM2_ENST00000395737.1_Missense_Mutation_p.S96L NM_001253845.1|NM_024866.5 NP_001240774.1|NP_079142.2 Q7Z4H4 ADM2_HUMAN adrenomedullin 2 96 positive regulation of angiogenesis extracellular region hormone activity breast(1)|kidney(1) 2 all_cancers(38;4.58e-14)|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) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CGAAGACACTCGGGCCCCCGC 0.697000 11 7 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70633852 70633852 + Missense_Mutation SNP A A T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr14:70633852A>T ENST00000381269.2 - 2 2041 c.1288T>A c.(1288-1290)Tat>Aat p.Y430N SLC8A3_ENST00000528359.1_Missense_Mutation_p.Y430N|SLC8A3_ENST00000356921.2_Missense_Mutation_p.Y430N|SLC8A3_ENST00000534137.1_Missense_Mutation_p.Y430N|SLC8A3_ENST00000357887.3_Missense_Mutation_p.Y430N NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 430 Calx-beta 1. 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) TAGTCCACATACATGGTCTTT 0.522000 74 102 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88962841 88962841 + Missense_Mutation SNP G G A rs139327261 byFrequency TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr7:88962841G>A ENST00000333190.4 + 4 1154 c.545G>A c.(544-546)cGg>cAg p.R182Q NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 182 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) GATAAACAGCGGTCCACCATG 0.418000 HNSCC(36;0.09) 35 63 0 0 1 0 0 CROCC 9696 broad.mit.edu 37 1 17256382 17256382 + Silent SNP G G T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr1:17256382G>T ENST00000375541.5 + 4 462 c.393G>T c.(391-393)acG>acT p.T131T CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 131 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) AGCTGGAGACGCAGGAGCCCA 0.697000 2 2 0.115264 0.115264 1 1 0 PMVK 10654 broad.mit.edu 37 1 154898884 154898884 + Missense_Mutation SNP G G A rs150445298 TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr1:154898884G>A ENST00000368467.3 - 4 693 c.388C>T c.(388-390)Cgc>Tgc p.R130C NM_006556.3 NP_006547.1 Q15126 PMVK_HUMAN phosphomevalonate kinase 130 cholesterol biosynthetic process|protein phosphorylation cytosol|peroxisome ATP binding|phosphomevalonate kinase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142) BRCA - Breast invasive adenocarcinoma(34;0.00034) GCTACAACGCGGACCGTCTGC 0.622000 4 62 0 0 1 0 0 LRRC10 376132 broad.mit.edu 37 12 70004207 70004207 + Missense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr12:70004207C>T ENST00000361484.3 - 1 735 c.412G>A c.(412-414)Gat>Aat p.D138N NM_201550.2 NP_963844.2 Q5BKY1 LRC10_HUMAN leucine rich repeat containing 10 138 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) CAGACCACATCCGGCAGCTGG 0.632000 30 85 0 0 1 0 0 ITGB3 3690 broad.mit.edu 37 17 45368453 45368453 + Missense_Mutation SNP C C T rs147758772 TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr17:45368453C>T ENST00000571680.1 + 9 1268 c.1259C>T c.(1258-1260)aCg>aTg p.T420M ITGB3_ENST00000559488.1_Splice_Site_p.T420_splice|ITGB3_ENST00000435993.2_Splice_Site_p.T373_splice|ITGB3_ENST00000560629.1_Splice_Site_p.H408_splice P05106 ITB3_HUMAN integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 420 activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 39 Abciximab(DB00054)|Tirofiban(DB00775) ATTGGAGACACGGTGAGGTGG 0.542000 36 56 0 0 1 0 0 JRK 8629 broad.mit.edu 37 8 143745934 143745934 + RNA SNP C C A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr8:143745934C>A ENST00000507178.2 - 0 1876 jerky homolog (mouse) all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;2.31e-05) GCGCCCgcagctgccccactt 0.706000 8 6 1.26484e-09 1.35519e-09 1 1 0 FNDC1 84624 broad.mit.edu 37 6 159655239 159655239 + Missense_Mutation SNP C C A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr6:159655239C>A ENST00000297267.9 + 11 3895 c.3695C>A c.(3694-3696)cCt>cAt p.P1232H FNDC1_ENST00000340366.6_Missense_Mutation_p.P1169H NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1232 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GCGCTTGCCCCTCGCGGAGGG 0.697000 4 10 0.014758 0.014848 1 1 0 SERPINI1 5274 broad.mit.edu 37 3 167525052 167525052 + Missense_Mutation SNP T T A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr3:167525052T>A ENST00000295777.5 + 6 1333 c.902T>A c.(901-903)aTt>aAt p.I301N SERPINI1_ENST00000488374.1_3'UTR|SERPINI1_ENST00000446050.2_Missense_Mutation_p.I301N NM_005025.4 NP_005016.1 Q99574 NEUS_HUMAN serpin peptidase inhibitor, clade I (neuroserpin), member 1 301 central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2) 20 GAACAGGAAATTGATTTAAAA 0.338000 68 221 0 0 1 0 0 IQCG 84223 broad.mit.edu 37 3 197619560 197619560 + Missense_Mutation SNP A A G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr3:197619560A>G ENST00000265239.6 - 10 1458 c.1034T>C c.(1033-1035)cTa>cCa p.L345P IQCG_ENST00000455191.1_Missense_Mutation_p.L345P NM_032263.3 NP_115639.1 Q9H095 IQCG_HUMAN IQ motif containing G 345 autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) GAGAGCATTTAGTTCATTCTG 0.438000 104 633 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32972595 32972595 + Missense_Mutation SNP A A T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr13:32972595A>T ENST00000544455.1 + 27 10172 c.9945A>T c.(9943-9945)aaA>aaT p.K3315N BRCA2_ENST00000380152.3_Missense_Mutation_p.K3315N NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 3315 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TAAAGAAAAAAGAACTGAATT 0.368000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 34 51 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 84996292 84996292 + Missense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr11:84996292C>T ENST00000376104.2 - 4 469 c.158G>A c.(157-159)tGc>tAc p.C53Y DLG2_ENST00000543673.1_Missense_Mutation_p.C53Y NM_001142699.1 NP_001136171.1 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 0 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TCTGTCATGGCACGGAGCAAG 0.383000 41 113 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108371726 108371726 + Silent SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr10:108371726C>T ENST00000263054.6 - 22 2983 c.2976G>A c.(2974-2976)ccG>ccA p.P992P SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000344440.6_Silent_p.P992P|SORCS1_ENST00000369698.1_Silent_p.P527P NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 992 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) CAGGGATGTCCGGGTTGTAGT 0.483000 24 27 0 0 1 0 0 FAM160B1 57700 broad.mit.edu 37 10 116590627 116590627 + Missense_Mutation SNP C C G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr10:116590627C>G ENST00000369248.4 + 2 397 c.62C>G c.(61-63)cCt>cGt p.P21R FAM160B1_ENST00000369246.1_Missense_Mutation_p.P21R|FAM160B1_ENST00000369250.3_Missense_Mutation_p.P21R NM_020940.3 NP_065991.3 Q5W0V3 F16B1_HUMAN family with sequence similarity 160, member B1 21 NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13) 25 CCTTCTCTTCCTTTACAAGAA 0.318000 22 61 0 0 1 0 0 ZNF484 83744 broad.mit.edu 37 9 95610231 95610231 + Missense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr9:95610231C>T ENST00000395505.2 - 3 822 c.730G>A c.(730-732)Gaa>Aaa p.E244K ZNF484_ENST00000395506.3_Missense_Mutation_p.E282K|ZNF484_ENST00000332591.6_Missense_Mutation_p.E244K|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000375495.3_Missense_Mutation_p.E280K NM_001261459.1|NM_001261460.1 NP_001248388.1|NP_001248389.1 Q5JVG2 ZN484_HUMAN zinc finger protein 484 280 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E280*(1) NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2) 33 TCATGGCATTCATGCTGCTTT 0.428000 33 121 0 0 1 0 0 KCNJ9 3765 broad.mit.edu 37 1 160054148 160054148 + Missense_Mutation SNP G G C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr1:160054148G>C ENST00000368088.3 + 2 570 c.328G>C c.(328-330)Gcc>Ccc p.A110P NM_004983.2 NP_004974.2 Q92806 IRK9_HUMAN potassium inwardly-rectifying channel, subfamily J, member 9 110 synaptic transmission integral to membrane|plasma membrane G-protein activated inward rectifier potassium channel activity|protein binding biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2) 16 all_cancers(52;5.86e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CTTCGTGGCCGCCTTCCTCTT 0.677000 15 36 0 0 1 0 0 ZC3H18 124245 broad.mit.edu 37 16 88689626 88689626 + Splice_Site SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr16:88689626G>A ENST00000301011.5 + 10 1867 c.e10-1 ZC3H18_ENST00000452588.2_Splice_Site NM_144604.3 NP_653205.3 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 nucleus nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 42 BRCA - Breast invasive adenocarcinoma(80;0.0542) GCCCGCCCCAGGTCGTCTTCG 0.657000 24 20 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32088330 32088330 + Silent SNP G G T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr5:32088330G>T ENST00000438447.1 + 20 5164 c.4776G>T c.(4774-4776)tcG>tcT p.S1592S PDZD2_ENST00000282493.3_Silent_p.S1592S O15018 PDZD2_HUMAN PDZ domain containing 2 1592 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 AAGATCCTTCGGAGTCAGAAG 0.577000 47 102 1.47857e-17 1.67099e-17 1 1 0 MORC1 27136 broad.mit.edu 37 3 108773582 108773582 + Silent SNP G G T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr3:108773582G>T ENST00000232603.5 - 14 1405 c.1323C>A c.(1321-1323)acC>acA p.T441T MORC1_ENST00000483760.1_Silent_p.T441T NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 441 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 CACTGATGCCGGTGTCCTTAC 0.373000 43 118 7.05121e-23 8.13601e-23 1 1 0 IGHG4 3503 broad.mit.edu 37 14 106091490 106091490 + RNA SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr14:106091490C>T ENST00000390543.2 - 0 403 CTCAGGGGTCCGGGAGATCAT 0.592000 35 192 0 0 1 0 0 ROBO4 54538 broad.mit.edu 37 11 124756993 124756993 + Missense_Mutation SNP G G T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr11:124756993G>T ENST00000306534.3 - 15 2800 c.2315C>A c.(2314-2316)cCa>cAa p.P772Q ROBO4_ENST00000533054.1_Missense_Mutation_p.P627Q|RP11-664I21.5_ENST00000524453.1_RNA NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 772 Pro/Ser-rich. angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) ACTGGAAGCTGGGCTGGGGCC 0.652000 29 45 1.77063e-15 1.97402e-15 1 1 0 KTN1 3895 broad.mit.edu 37 14 56142559 56142559 + Missense_Mutation SNP G G C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr14:56142559G>C ENST00000416613.1 + 40 3850 c.3778G>C c.(3778-3780)Gca>Cca p.A1260P KTN1_ENST00000395314.3_Missense_Mutation_p.A1260P|KTN1_ENST00000395311.1_Missense_Mutation_p.A1209P|KTN1_ENST00000554507.1_Missense_Mutation_p.A498P|KTN1_ENST00000395308.1_Missense_Mutation_p.A1209P|KTN1_ENST00000395309.3_Missense_Mutation_p.A1260P|KTN1_ENST00000438792.2_Missense_Mutation_p.A1203P|KTN1_ENST00000555573.1_Missense_Mutation_p.A237P|KTN1_ENST00000413890.2_Missense_Mutation_p.A1209P Q86UP2 KTN1_HUMAN kinectin 1 (kinesin receptor) 1260 microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 19 ACAGTTGAAGGCACAGTTAAA 0.368000 T RET papillary thryoid 26 47 0 0 1 0 0 SEMA5A 9037 broad.mit.edu 37 5 9202097 9202097 + Missense_Mutation SNP T T C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr5:9202097T>C ENST00000382496.5 - 9 1567 c.902A>G c.(901-903)gAt>gGt p.D301G NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 301 Sema. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 ATAGATCAAATCCAGCTCAGG 0.438000 34 43 0 0 1 0 0 NT5DC2 64943 broad.mit.edu 37 3 52562303 52562303 + Missense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr3:52562303C>T ENST00000307076.4 - 6 956 c.556G>A c.(556-558)Gac>Aac p.D186N NT5DC2_ENST00000307092.4_Missense_Mutation_p.D127N|NT5DC2_ENST00000459839.1_Missense_Mutation_p.D198N|NT5DC2_ENST00000422318.2_Missense_Mutation_p.D223N NM_022908.2 NP_075059.1 Q9H857 NT5D2_HUMAN 5'-nucleotidase domain containing 2 186 hydrolase activity|metal ion binding endometrium(1)|lung(3)|prostate(1)|stomach(1) 6 BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476) GAGAAGATGTCCATGAACTGC 0.572000 4 55 0 0 1 0 0 TIGD4 201798 broad.mit.edu 37 4 153691671 153691671 + Nonsense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr4:153691671C>T ENST00000304337.2 - 2 1306 c.486G>A c.(484-486)tgG>tgA p.W162* NM_145720.3 NP_663772.1 Q8IY51 TIGD4_HUMAN tigger transposable element derived 4 162 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|DNA binding breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.093) CATTTTGGTACCAGACAGTCG 0.363000 35 30 0 0 1 0 0 RAG2 5897 broad.mit.edu 37 11 36614195 36614195 + Missense_Mutation SNP T T A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr11:36614195T>A ENST00000311485.3 - 2 1685 c.1524A>T c.(1522-1524)aaA>aaT p.K508N NM_000536.3|NM_001243785.1|NM_001243786.1 NP_000527.2|NP_001230714.1|NP_001230715.1 P55895 RAG2_HUMAN recombination activating gene 2 508 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 32 all_lung(20;0.226) all_hematologic(20;0.00756) TTCCAGAACCTTTTTTACGGA 0.393000 Familial Hemophagocytic Lymphohistiocytosis 4 43 0 0 1 0 0 CHST14 113189 broad.mit.edu 37 15 40763950 40763950 + Missense_Mutation SNP C C A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr15:40763950C>A ENST00000306243.5 + 1 791 c.538C>A c.(538-540)Ctc>Atc p.L180I CHST14_ENST00000559991.1_Missense_Mutation_p.L155I NM_130468.3 NP_569735.1 Q8NCH0 CHSTE_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 180 carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding cervix(1)|large_intestine(1)|prostate(2) 4 all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781) GGACGTCCGCCTCAAGATGGA 0.602000 26 42 4.59853e-10 4.9592e-10 1 1 0 CLCA2 9635 broad.mit.edu 37 1 86913313 86913313 + Silent SNP A A G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr1:86913313A>G ENST00000370565.4 + 11 1998 c.1836A>G c.(1834-1836)gaA>gaG p.E612E NM_006536.5 NP_006527.1 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 612 cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) CCTTTGTGGAAAGAGACAGCC 0.493000 63 105 0 0 1 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 6 32 0 0 1 0 0 CRIPAK 285464 broad.mit.edu 37 4 1388818 1388818 + Silent SNP A A T rs71299249 byFrequency TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr4:1388818A>T ENST00000324803.4 + 1 3479 c.519A>T c.(517-519)ccA>ccT p.P173P NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 173 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) ACACGTGCCCATGTGGAGTGC 0.682000 4 14 0 0 1 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475051 140475051 + Missense_Mutation SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr5:140475051G>A ENST00000194155.4 + 1 825 c.677G>A c.(676-678)gGc>gAc p.G226D NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 226 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCAGGTCCGGCACGGCCCTG 0.582000 11 27 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179484368 179484368 + Missense_Mutation SNP C C G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr2:179484368C>G ENST00000589042.1 - 250 46900 c.46676G>C c.(46675-46677)aGa>aCa p.R15559T TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R6494T|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R6686T|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R12991T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R6619T|TTN_ENST00000591111.1_Missense_Mutation_p.R13918T NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13918 Fibronectin type-III 13. 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) AAGCTTAGCTCTGGCTTCTTT 0.373000 43 75 0 0 1 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70667725 70667725 + Missense_Mutation SNP T T C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr8:70667725T>C ENST00000260126.3 - 4 1898 c.1192A>G c.(1192-1194)Aaa>Gaa p.K398E SLCO5A1_ENST00000530307.1_Missense_Mutation_p.K398E|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.K398E NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 398 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TTGTTTGATTTCTCCTTCAGA 0.358000 28 49 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56205156 56205156 + Missense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr18:56205156C>T ENST00000361673.3 - 5 2476 c.2263G>A c.(2263-2265)Gtg>Atg p.V755M RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 755 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 CTTGAGAACACACCTGGGGAC 0.502000 6 121 0 0 1 0 0 OLFML2A 169611 broad.mit.edu 37 9 127566456 127566456 + Missense_Mutation SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr9:127566456G>A ENST00000373580.3 + 6 1003 c.1003G>A c.(1003-1005)Gca>Aca p.A335T OLFML2A_ENST00000288815.5_Missense_Mutation_p.A121T NM_182487.2 NP_872293.2 Q68BL7 OLM2A_HUMAN olfactomedin-like 2A 335 endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 25 GCCCAACTCCGCAGAGCAGGA 0.652000 47 22 0 0 1 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169540249 169540249 + Silent SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr3:169540249C>T ENST00000340806.6 + 1 540 c.540C>T c.(538-540)ttC>ttT p.F180F NM_001080460.1 NP_001073929.1 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 180 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 TTGAAGTTTTCCCCCAGGAGC 0.517000 48 252 0 0 1 0 0 SELPLG 6404 broad.mit.edu 37 12 109016914 109016914 + Silent SNP C C A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr12:109016914C>A ENST00000388962.3 - 3 1299 c.1140G>T c.(1138-1140)ccG>ccT p.P380P SELPLG_ENST00000228463.6_Silent_p.P406P|SELPLG_ENST00000550948.1_Silent_p.P390P NM_003006.4 NP_002997.2 Q14242 SELPL_HUMAN selectin P ligand 390 blood coagulation|cellular response to interleukin-6 integral to plasma membrane|membrane fraction bacterial cell surface binding|receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1) 12 GCGTCAGGCCCGGGCTCTTGG 0.642000 20 8 8.00594e-06 8.30805e-06 1 1 0 KCNU1 157855 broad.mit.edu 37 8 36766941 36766941 + Missense_Mutation SNP C C G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr8:36766941C>G ENST00000399881.3 + 21 2256 c.2219C>G c.(2218-2220)gCc>gGc p.A740G NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 740 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) CCCTTGAGAGCCAGCAACTAT 0.458000 106 247 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27089635 27089635 + Missense_Mutation SNP G G T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr1:27089635G>T ENST00000324856.7 + 8 2962 c.2591G>T c.(2590-2592)gGc>gTc p.G864V ARID1A_ENST00000374152.2_Missense_Mutation_p.G481V|ARID1A_ENST00000457599.2_Missense_Mutation_p.G864V NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 864 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GCCTCCATGGGCAACCGGCCT 0.587000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 15 15 1.5739e-10 1.70851e-10 1 1 0 SF3B3 23450 broad.mit.edu 37 16 70590203 70590203 + Missense_Mutation SNP A A T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr16:70590203A>T ENST00000302516.5 + 14 2043 c.1832A>T c.(1831-1833)gAc>gTc p.D611V NM_012426.4 NP_036558.3 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3, 130kDa 611 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 53 Ovarian(137;0.0694) GGGCTTGTGGACAACACTGTC 0.542000 59 157 0 0 1 0 0 LILRA4 23547 broad.mit.edu 37 19 54850163 54850163 + Missense_Mutation SNP A A G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr19:54850163A>G ENST00000291759.4 - 2 100 c.44T>C c.(43-45)cTg>cCg p.L15P NM_012276.3 NP_036408.3 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 15 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) CCTGGGGCCCAGGCTCAGCCC 0.622000 OREG0003656 type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 18 27 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237949308 237949308 + Missense_Mutation SNP G G C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr1:237949308G>C ENST00000366574.2 + 91 13617 c.13300G>C c.(13300-13302)Gaa>Caa p.E4434Q RYR2_ENST00000360064.6_Missense_Mutation_p.E4440Q|RYR2_ENST00000542537.1_Missense_Mutation_p.E4418Q NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4434 Glu-rich (acidic). 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) agaaaaagaagaaACCAAATC 0.358000 5 6 0 0 1 0 0 ZNF285 26974 broad.mit.edu 37 19 44890792 44890792 + Missense_Mutation SNP G G C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr19:44890792G>C ENST00000330997.4 - 4 1679 c.1615C>G c.(1615-1617)Ccc>Gcc p.P539A ZNF285_ENST00000591679.1_Missense_Mutation_p.P546A|ZNF285_ENST00000544719.2_Missense_Mutation_p.P539A|CTC-512J12.6_ENST00000588212.1_Intron NM_152354.3 NP_689567.3 zinc finger protein 285 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 CACTTATAGGGCCTCTCTCTT 0.438000 36 27 0 0 1 0 0 BARHL2 343472 broad.mit.edu 37 1 91178026 91178026 + Missense_Mutation SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr1:91178026G>A ENST00000370445.4 - 3 1048 c.1007C>T c.(1006-1008)gCc>gTc p.A336V NM_020063.1 NP_064447.1 Q9NY43 BARH2_HUMAN BarH-like homeobox 2 336 nucleus sequence-specific DNA binding cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_lung(203;0.0263)|Lung SC(238;0.128) all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211) GCTGTACATGGCAGCGGCAGC 0.647000 7 15 0 0 1 0 0 SLF2 55719 broad.mit.edu 37 10 102684308 102684308 + Missense_Mutation SNP A A G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr10:102684308A>G ENST00000238961.3 + 5 1698 c.1550A>G c.(1549-1551)gAa>gGa p.E517G FAM178A_ENST00000370271.3_Missense_Mutation_p.E517G|FAM178A_ENST00000370269.3_Missense_Mutation_p.E517G NM_018121.3 NP_060591.3 Q8IX21 F178A_HUMAN family with sequence similarity 178, member A 517 CATTCTACAGAATCCACCAAA 0.393000 70 82 0 0 1 0 0 MTHFD1L 25902 broad.mit.edu 37 6 151293189 151293189 + Missense_Mutation SNP T T A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr6:151293189T>A ENST00000367321.3 + 20 2394 c.2120T>A c.(2119-2121)tTt>tAt p.F707Y MTHFD1L_ENST00000478643.1_3'UTR NM_001242767.1|NM_001242768.1|NM_015440.4 NP_001229696.1|NP_001229697.1|NP_056255.2 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 707 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 29 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) GAAGAAGGATTTGTAGGTAAG 0.398000 19 50 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1843127 1843127 + Silent SNP C C A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr2:1843127C>A ENST00000399161.2 - 21 3621 c.2874G>T c.(2872-2874)ggG>ggT p.G958G MYT1L_ENST00000428368.2_Silent_p.G956G|MYT1L_ENST00000407844.1_5'UTR|MYT1L_ENST00000471668.1_5'UTR NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 958 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) GGCCGTCGCACCCGGGGACCG 0.617000 30 53 2.68265e-12 2.95092e-12 1 1 0 MYO18B 84700 broad.mit.edu 37 22 26242142 26242142 + Silent SNP C C G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr22:26242142C>G ENST00000335473.7 + 19 3694 c.3444C>G c.(3442-3444)ggC>ggG p.G1148G MYO18B_ENST00000407587.2_Silent_p.G1149G|MYO18B_ENST00000536101.1_Silent_p.G1148G NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1148 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GCCTGGAGGGCACCTCCCAGC 0.667000 9 15 0 0 1 0 0 KCNJ8 3764 broad.mit.edu 37 12 21918866 21918866 + Nonsense_Mutation SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr12:21918866G>A ENST00000240662.2 - 3 1411 c.1066C>T c.(1066-1068)Cga>Tga p.R356* RP11-59N23.1_ENST00000542489.1_RNA NM_004982.3 NP_004973.1 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel, subfamily J, member 8 356 voltage-gated potassium channel complex cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 Levosimendan(DB00922) TCCAGCTCTCGGGCACTGCAC 0.463000 72 152 0 0 1 0 0 ZNF214 7761 broad.mit.edu 37 11 7021319 7021319 + Missense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr11:7021319C>T ENST00000278314.4 - 3 1910 c.1595G>A c.(1594-1596)gGa>gAa p.G532E ZNF214_ENST00000536068.1_Missense_Mutation_p.G532E NM_013249.2 NP_037381.2 Q9UL59 ZN214_HUMAN zinc finger protein 214 532 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) AAAACCCTTTCCACAATCATG 0.413000 56 41 0 0 1 0 0 C17orf62 79415 broad.mit.edu 37 17 80401777 80401777 + Silent SNP G G C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr17:80401777G>C ENST00000336995.7 - 6 669 c.222C>G c.(220-222)ccC>ccG p.P74P C17orf62_ENST00000434650.2_3'UTR|C17orf62_ENST00000306645.5_3'UTR|C17orf62_ENST00000437807.2_3'UTR|C17orf62_ENST00000585064.1_3'UTR|C17orf62_ENST00000577732.1_3'UTR|C17orf62_ENST00000578919.1_3'UTR|C17orf62_ENST00000577436.1_3'UTR|C17orf62_ENST00000342572.8_3'UTR|C17orf62_ENST00000583617.1_Intron Q9BQA9 CQ062_HUMAN chromosome 17 open reading frame 62 0 integral to membrane protein binding breast(2)|large_intestine(2)|skin(2)|urinary_tract(2) 8 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) CAGGCACACCGGGAATGTGCC 0.706000 8 168 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164739124 164739124 + Missense_Mutation SNP G G T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr3:164739124G>T ENST00000264382.3 - 27 3209 c.3147C>A c.(3145-3147)aaC>aaA p.N1049K NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1049 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) TGGTTGGAATGTTTAACGGTA 0.368000 HNSCC(35;0.089) 402 263 3.03833e-170 3.58088e-170 1 1 0 NOXA1 10811 broad.mit.edu 37 9 140327703 140327703 + Silent SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr9:140327703C>T ENST00000341349.2 + 10 1077 c.897C>T c.(895-897)ccC>ccT p.P299P NOXA1_ENST00000392815.2_Silent_p.P243P NM_001256067.1|NM_006647.1 NP_001242996.1|NP_006638.1 Q86UR1 NOXA1_HUMAN NADPH oxidase activator 1 299 Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate). regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process cytoplasm|NADPH oxidase complex Rac GTPase binding|superoxide-generating NADPH oxidase activator activity cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1) 9 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982) GTGAGGACCCCGCGGGTGCTG 0.652000 4 13 0 0 1 0 0 CD1A 909 broad.mit.edu 37 1 158226702 158226702 + Missense_Mutation SNP A A T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr1:158226702A>T ENST00000289429.5 + 4 1264 c.731A>T c.(730-732)cAg>cTg p.Q244L NM_001763.2 NP_001754.2 P06126 CD1A_HUMAN CD1a molecule 244 Ig-like. antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 32 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) GAGCAGGAGCAGCAGGGCACT 0.642000 32 83 0 0 1 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475050 140475050 + Missense_Mutation SNP G G T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr5:140475050G>T ENST00000194155.4 + 1 824 c.676G>T c.(676-678)Ggc>Tgc p.G226C NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 226 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACCCAGGTCCGGCACGGCCCT 0.582000 11 27 4.68919e-08 4.95972e-08 1 1 0 NRDE2 55051 broad.mit.edu 37 14 90767686 90767686 + Missense_Mutation SNP C C T rs150270537 TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr14:90767686C>T ENST00000354366.3 - 7 1674 c.1442G>A c.(1441-1443)cGg>cAg p.R481Q NRDE2_ENST00000357904.3_Missense_Mutation_p.R250Q NM_017970.3 NP_060440.2 NRDE-2, necessary for RNA interference, domain containing GCCAGCCTGCCGCAGAAAGTG 0.517000 21 31 0 0 1 0 0 OLFML2A 169611 broad.mit.edu 37 9 127557384 127557384 + Missense_Mutation SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr9:127557384G>A ENST00000373580.3 + 3 436 c.436G>A c.(436-438)Gcc>Acc p.A146T NM_182487.2 NP_872293.2 Q68BL7 OLM2A_HUMAN olfactomedin-like 2A 146 endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 25 CCACAAGGTGGCCTCCCAGAT 0.652000 8 15 0 0 1 0 0 PCED1B 91523 broad.mit.edu 37 12 47629946 47629946 + Missense_Mutation SNP T T C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr12:47629946T>C ENST00000546455.1 + 4 1831 c.1100T>C c.(1099-1101)tTc>tCc p.F367S PCED1B_ENST00000432328.1_Missense_Mutation_p.F367S PC-esterase domain containing 1B CATGCAGGTTTCTTCGTCGAA 0.522000 58 168 0 0 1 0 0 ZNF83 55769 broad.mit.edu 37 19 53117347 53117347 + Silent SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr19:53117347G>A ENST00000597597.1 - 2 2724 c.471C>T c.(469-471)gtC>gtT p.V157V ZNF83_ENST00000541777.2_Silent_p.V157V|ZNF83_ENST00000536937.1_Silent_p.V157V|ZNF83_ENST00000545872.1_Silent_p.V157V|ZNF83_ENST00000391789.4_Silent_p.V157V|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000301096.3_Silent_p.V157V|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000544146.1_Silent_p.V157V P51522 ZNF83_HUMAN zinc finger protein 83 157 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) TATTATGGAAGACCTTGCCAC 0.353000 28 24 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61859022 61859022 + Silent SNP A A T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr16:61859022A>T ENST00000577390.1 - 5 1683 c.729T>A c.(727-729)gtT>gtA p.V243V CDH8_ENST00000577730.1_Silent_p.V243V|CDH8_ENST00000584337.1_Silent_p.V243V|CDH8_ENST00000299345.6_Silent_p.V243V NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 243 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TGGCTTGGATAACAACCAGGT 0.458000 31 84 0 0 1 0 0 LINGO4 339398 broad.mit.edu 37 1 151774779 151774779 + Silent SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr1:151774779C>T ENST00000368820.3 - 2 1339 c.402G>A c.(400-402)ctG>ctA p.L134L NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 134 integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) CCAGCAGGGTCAGAGCAGAGA 0.597000 82 89 0 0 1 0 0 AGL 178 broad.mit.edu 37 1 100358058 100358058 + Missense_Mutation SNP A A G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr1:100358058A>G ENST00000294724.4 + 24 3632 c.3154A>G c.(3154-3156)Aaa>Gaa p.K1052E AGL_ENST00000361522.4_Missense_Mutation_p.K1035E|AGL_ENST00000361915.3_Missense_Mutation_p.K1052E|AGL_ENST00000370165.3_Missense_Mutation_p.K1052E|AGL_ENST00000370161.2_Missense_Mutation_p.K1036E|AGL_ENST00000361302.3_Missense_Mutation_p.K1036E|AGL_ENST00000370163.3_Missense_Mutation_p.K1052E NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 1052 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) TGGAGTAGGAAAATTCCCTTC 0.378000 55 54 0 0 1 0 0 NOXA1 10811 broad.mit.edu 37 9 140327704 140327704 + Missense_Mutation SNP G G T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr9:140327704G>T ENST00000341349.2 + 10 1078 c.898G>T c.(898-900)Gcg>Tcg p.A300S NOXA1_ENST00000392815.2_Missense_Mutation_p.A244S NM_001256067.1|NM_006647.1 NP_001242996.1|NP_006638.1 Q86UR1 NOXA1_HUMAN NADPH oxidase activator 1 300 Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate). regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process cytoplasm|NADPH oxidase complex Rac GTPase binding|superoxide-generating NADPH oxidase activator activity cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1) 9 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982) TGAGGACCCCGCGGGTGCTGG 0.652000 4 13 0.00024832 0.000254489 1 1 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 5 82 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155451295 155451295 + Missense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr6:155451295C>T ENST00000461783.3 + 6 2211 c.938C>T c.(937-939)cCc>cTc p.P313L TIAM2_ENST00000360366.4_Missense_Mutation_p.P313L|TIAM2_ENST00000456144.1_Missense_Mutation_p.P313L|TIAM2_ENST00000529824.2_Missense_Mutation_p.P313L|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.P313L Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 313 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) AGCCTCTCCCCCTCAGGTATC 0.557000 24 41 0 0 1 0 0 RPL23AP53 644128 broad.mit.edu 37 8 163387 163387 + RNA SNP C C T rs3008286 by1000genomes TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr8:163387C>T ENST00000606975.1 - 0 534 CACAGCCTGTCTGATCTGGTG 0.468000 4 23 0 0 1 0 0 MRPS2 51116 broad.mit.edu 37 9 138395504 138395504 + Missense_Mutation SNP A A T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr9:138395504A>T ENST00000371785.1 + 5 625 c.416A>T c.(415-417)aAg>aTg p.K139M MRPS2_ENST00000488610.1_3'UTR|MRPS2_ENST00000241600.5_Missense_Mutation_p.K139M|RP11-426A6.5_ENST00000415062.1_RNA Q9Y399 RT02_HUMAN mitochondrial ribosomal protein S2 139 translation mitochondrion|small ribosomal subunit structural constituent of ribosome large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1) 6 OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42) GCCTACCGCAAGGGCATCATC 0.577000 26 60 0 0 1 0 0 TBC1D3P5 440419 broad.mit.edu 37 17 25749187 25749187 + RNA SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr17:25749187G>A ENST00000586223.1 + 0 1088 NR_033892.1 GAGTGTATAAGGGCATTCCCA 0.498000 7 25 0 0 1 0 0 KIAA0368 23392 broad.mit.edu 37 9 114173351 114173351 + Missense_Mutation SNP T T G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr9:114173351T>G ENST00000259335.4 - 23 2819 c.2820A>C c.(2818-2820)aaA>aaC p.K940N KIAA0368_ENST00000338205.5_Missense_Mutation_p.K762N NM_001080398.1 NP_001073867.1 KIAA0368 NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 ACATTCTCATTTTCTTTTTAG 0.418000 199 180 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74019475 74019475 + Silent SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr17:74019475C>T ENST00000301607.3 - 4 631 c.378G>A c.(376-378)gtG>gtA p.V126V EVPL_ENST00000586740.1_Silent_p.V126V NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 126 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 ACTCCTGGGTCACCCGCTCGT 0.672000 38 54 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 119065052 119065052 + Nonsense_Mutation SNP C C A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr9:119065052C>A ENST00000328252.3 + 10 3339 c.2970C>A c.(2968-2970)tgC>tgA p.C990* RP11-45A16.4_ENST00000451100.1_RNA|PAPPA_ENST00000534838.1_Nonsense_Mutation_p.C28* NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 990 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 CCAGCCGGTGCTATTTCCATG 0.458000 21 59 2.70639e-06 2.8263e-06 1 1 0 KCNJ2 3759 broad.mit.edu 37 17 68171810 68171810 + Silent SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr17:68171810G>A ENST00000243457.3 + 2 1013 c.630G>A c.(628-630)ttG>ttA p.L210L KCNJ2_ENST00000535240.1_Silent_p.L210L NM_000891.2 NP_000882.1 P63252 IRK2_HUMAN potassium inwardly-rectifying channel, subfamily J, member 2 210 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1) 25 Breast(10;1.64e-08) AGCTGTGTTTGATGTGGCGAG 0.498000 29 62 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7231221 7231221 + Silent SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr6:7231221G>A ENST00000379938.2 + 10 3426 c.2889G>A c.(2887-2889)gcG>gcA p.A963A RREB1_ENST00000379933.3_Silent_p.A963A|RREB1_ENST00000334984.6_Silent_p.A963A|RREB1_ENST00000349384.6_Silent_p.A963A NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 963 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) AGGAGGAGGCGGGGAGCAGCG 0.632000 12 4 0 0 1 0 0 FAF2 23197 broad.mit.edu 37 5 175913467 175913467 + Missense_Mutation SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr5:175913467G>A ENST00000261942.6 + 3 297 c.244G>A c.(244-246)Gtt>Att p.V82I FAF2_ENST00000510446.1_3'UTR NM_014613.2 NP_055428.1 Q96CS3 FAF2_HUMAN Fas associated factor family member 2 82 response to unfolded protein endoplasmic reticulum|lipid particle protein binding breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 10 CTACAGCTATGTTGTCTCAAG 0.443000 37 53 0 0 1 0 0 CDH3 1001 broad.mit.edu 37 16 68729736 68729736 + Silent SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr16:68729736C>T ENST00000264012.4 + 15 2734 c.2190C>T c.(2188-2190)ctC>ctT p.L730L CDH3_ENST00000429102.2_Silent_p.L730L|CDH3_ENST00000581171.1_Silent_p.L675L NM_001793.4 NP_001784.2 P22223 CADH3_HUMAN cadherin 3, type 1, P-cadherin (placental) 730 adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(2) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) AGGTGGTTCTCCGCAATGACG 0.582000 48 56 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41684252 41684252 + Silent SNP T T C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr21:41684252T>C ENST00000400454.1 - 9 2295 c.1818A>G c.(1816-1818)agA>agG p.R606R NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 606 Ig-like C2-type 7. 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) CAATGGAGAATCTTGGAAACT 0.478000 16 42 0 0 1 0 0 RRAS2 22800 broad.mit.edu 37 11 14316390 14316390 + Missense_Mutation SNP T T A rs113954997 TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr11:14316390T>A ENST00000545643.1 - 3 546 c.233A>T c.(232-234)cAa>cTa p.Q78L RRAS2_ENST00000529237.1_5'UTR|RRAS2_ENST00000526063.1_5'UTR|RRAS2_ENST00000256196.4_Missense_Mutation_p.Q72L|RRAS2_ENST00000414023.2_5'UTR|RRAS2_ENST00000532814.1_5'UTR|RRAS2_ENST00000534746.1_5'UTR|RRAS2_ENST00000537760.1_Missense_Mutation_p.Q37L NM_012250.5 NP_036382.2 P62070 RRAS2_HUMAN related RAS viral (r-ras) oncogene homolog 2 72 endoplasmic reticulum|plasma membrane GTP binding|GTPase activity|protein binding p.Q72L(2) breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 12 Epithelial(150;0.203) AAACTCTTCTTGTCCTGCTGT 0.393000 37 38 0 0 1 0 0 SLC5A5 6528 broad.mit.edu 37 19 18001748 18001748 + Missense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr19:18001748C>T ENST00000222248.3 + 14 2052 c.1705C>T c.(1705-1707)Cgg>Tgg p.R569W NM_000453.2 NP_000444.1 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium/iodide cotransporter), member 5 569 cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity p.R569W(1) NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 GGACCTCGCACGGCAGACAGC 0.602000 44 92 0 0 1 0 0 RNF24 11237 broad.mit.edu 37 20 3914726 3914726 + Missense_Mutation SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr20:3914726G>A ENST00000336095.5 - 6 682 c.431C>T c.(430-432)gCa>gTa p.A144V RNF24_ENST00000432261.2_Missense_Mutation_p.A165V|RNF24_ENST00000358395.6_Missense_Mutation_p.A144V|RNF24_ENST00000545616.1_Missense_Mutation_p.A165V NM_007219.3 NP_009150.1 Q9Y225 RNF24_HUMAN ring finger protein 24 144 Golgi membrane|integral to membrane zinc ion binding large_intestine(1)|upper_aerodigestive_tract(1) 2 AATGTTCTCTGCCCCAGGAAG 0.562000 55 88 0 0 1 0 0 SKIL 6498 broad.mit.edu 37 3 170102443 170102443 + Missense_Mutation SNP A A G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr3:170102443A>G ENST00000458537.3 + 3 2028 c.1319A>G c.(1318-1320)aAg>aGg p.K440R SKIL_ENST00000426052.2_Missense_Mutation_p.K420R|SKIL_ENST00000413427.2_Intron|SKIL_ENST00000259119.4_Missense_Mutation_p.K440R NM_001145097.2|NM_001248008.1|NM_005414.4 NP_001138569.1|NP_001234937.1|NP_005405.2 P12757 SKIL_HUMAN SKI-like oncogene 440 cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development cytoplasm|PML body chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 25 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) CAGTCAGAGAAGGCTCACAGT 0.398000 52 426 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121228628 121228628 + Missense_Mutation SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr8:121228628G>A ENST00000297848.3 + 14 1906 c.1636G>A c.(1636-1638)Gtt>Att p.V546I COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.V546I|COL14A1_ENST00000247781.3_Missense_Mutation_p.V451I NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 546 Fibronectin type-III 4. 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) AATCTCCAATGTTGGCTCTAA 0.353000 57 80 0 0 1 0 0 FOXP4 116113 broad.mit.edu 37 6 41557787 41557787 + Silent SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr6:41557787G>A ENST00000373060.1 + 11 1694 c.1236G>A c.(1234-1236)ccG>ccA p.P412P FOXP4_ENST00000409208.1_Silent_p.P400P|FOXP4_ENST00000307972.4_Silent_p.P412P|FOXP4_ENST00000373063.3_Silent_p.P399P|FOXP4_ENST00000373057.3_Silent_p.P410P NM_001012426.1|NM_001012427.1 NP_001012426.1|NP_001012427.1 Q8IVH2 FOXP4_HUMAN forkhead box P4 412 embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 16 Ovarian(28;0.0327)|Colorectal(47;0.196) TGCACCCCCCGACCTCGGCCG 0.672000 4 48 0 0 1 0 0 RASA3 22821 broad.mit.edu 37 13 114758033 114758033 + Missense_Mutation SNP C C G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr13:114758033C>G ENST00000334062.7 - 22 2294 c.2173G>C c.(2173-2175)Gat>Cat p.D725H RASA3_ENST00000389544.4_Missense_Mutation_p.D693H NM_007368.2 NP_031394.2 Q14644 RASA3_HUMAN RAS p21 protein activator 3 725 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) CGGTCCCCATCAATGTCCAGC 0.483000 17 29 0 0 1 0 0 APLF 200558 broad.mit.edu 37 2 68772422 68772422 + Missense_Mutation SNP C C G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr2:68772422C>G ENST00000303795.4 + 8 1435 c.1264C>G c.(1264-1266)Ccc>Gcc p.P422A APLF_ENST00000471727.1_3'UTR NM_173545.2 NP_775816.1 Q8IW19 APLF_HUMAN aprataxin and PNKP like factor 422 double-strand break repair|single strand break repair cytosol|nucleus 3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 GCCTGAATGTCCCTATGGACC 0.423000 38 95 0 0 1 0 0 TKTL2 84076 broad.mit.edu 37 4 164393621 164393621 + Silent SNP C C G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr4:164393621C>G ENST00000280605.3 - 1 1426 c.1266G>C c.(1264-1266)ggG>ggC p.G422G NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 422 cytoplasm metal ion binding|transketolase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CAGTGGATACCCCACAGTGGG 0.478000 36 21 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49420628 49420628 + Missense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr12:49420628C>T ENST00000301067.7 - 48 15120 c.15121G>A c.(15121-15123)Ggg>Agg p.G5041R NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TCAGTGGCCCCGTCACCCTCC 0.607000 31 89 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13876803 13876803 + Missense_Mutation SNP G G T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr5:13876803G>T ENST00000265104.4 - 22 3490 c.3386C>A c.(3385-3387)tCc>tAc p.S1129Y CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1129 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTTTTTGGTGGAGTTGATAAT 0.383000 Kartagener syndrome 38 66 1.57019e-19 1.78677e-19 1 1 0 SIGLEC16 400709 broad.mit.edu 37 19 50475259 50475259 + RNA SNP G G C rs12463036 by1000genomes TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr19:50475259G>C ENST00000602139.1 + 0 1205 sialic acid binding Ig-like lectin 16 (gene/pseudogene) endometrium(2)|kidney(2)|lung(6) 10 TGGGGTCCTGGAGCTGCCTCG 0.672000 2 5 0 0 1 0 0 TMEM133 83935 broad.mit.edu 37 11 100863058 100863058 + Missense_Mutation SNP G G T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr11:100863058G>T ENST00000303130.2 + 1 248 c.19G>T c.(19-21)Gta>Tta p.V7L NM_032021.2 NP_114410.1 Q9H2Q1 TM133_HUMAN transmembrane protein 133 7 integral to membrane kidney(2)|large_intestine(1)|lung(1)|prostate(1) 5 Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014) BRCA - Breast invasive adenocarcinoma(274;0.0675) ACATCACTGCGTAGGACCCGG 0.428000 33 53 9.65021e-13 1.06865e-12 1 1 0 IGHMBP2 3508 broad.mit.edu 37 11 68696742 68696742 + Silent SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr11:68696742C>T ENST00000255078.3 + 8 1263 c.1152C>T c.(1150-1152)agC>agT p.S384S NM_002180.2 NP_002171.2 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 384 Leu-rich. cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TCGAGGCGAGCTGCTGGATCC 0.622000 41 100 0 0 1 0 0 PHACTR3 116154 broad.mit.edu 37 20 58349395 58349395 + Missense_Mutation SNP G G C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr20:58349395G>C ENST00000371015.1 + 7 1491 c.1024G>C c.(1024-1026)Gct>Cct p.A342P PHACTR3_ENST00000395636.2_Missense_Mutation_p.A301P|PHACTR3_ENST00000541461.1_Missense_Mutation_p.A301P|PHACTR3_ENST00000361300.4_Missense_Mutation_p.A231P|PHACTR3_ENST00000359926.3_Missense_Mutation_p.A339P|PHACTR3_ENST00000355648.4_Missense_Mutation_p.A301P|PHACTR3_ENST00000395639.4_Missense_Mutation_p.A231P NM_080672.3 NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 342 nuclear matrix actin binding|protein phosphatase inhibitor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) GAGGGAGGAGGCTTGGAGCTT 0.512000 37 70 0 0 1 0 0 MAP3K1 4214 broad.mit.edu 37 5 56167806 56167806 + Silent SNP A A T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr5:56167806A>T ENST00000399503.3 + 7 1371 c.1371A>T c.(1369-1371)acA>acT p.T457T NM_005921.1 NP_005912.1 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase 457 cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1) 57 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) AAAGTCTTACAGTGTGTGAAG 0.428000 34 29 0 0 1 0 0 TCFL5 10732 broad.mit.edu 37 20 61488812 61488812 + Silent SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr20:61488812C>T ENST00000335351.3 - 4 1265 c.1173G>A c.(1171-1173)caG>caA p.Q391Q TCFL5_ENST00000217162.5_Silent_p.Q343Q NM_006602.2 NP_006593.2 Q9UL49 TCFL5_HUMAN transcription factor-like 5 (basic helix-loop-helix) 391 cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1) 9 Breast(26;5.68e-08) GGGGCCCACTCTGGGCCTGCT 0.572000 137 40 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129146962 129146962 + Missense_Mutation SNP C C T rs141901231 byFrequency TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chrX:129146962C>T ENST00000540052.1 + 3 258 c.214C>T c.(214-216)Cgg>Tgg p.R72W BCORL1_ENST00000303743.5_Missense_Mutation_p.R72W|BCORL1_ENST00000359304.2_Missense_Mutation_p.R72W|BCORL1_ENST00000218147.7_Missense_Mutation_p.R72W|BCORL1_ENST00000488135.1_3'UTR NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 72 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 CAGCAATGCCCGGGGGGCAGA 0.567000 6 99 0 0 1 0 0 MKRN3 7681 broad.mit.edu 37 15 23811475 23811475 + Silent SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr15:23811475C>T ENST00000314520.3 + 1 1022 c.546C>T c.(544-546)gcC>gcT p.A182A MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 182 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) TCTTTGAAGCCGAGAGAGACA 0.617000 23 30 0 0 1 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125856801 125856801 + Missense_Mutation SNP A A T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr3:125856801A>T ENST00000393434.2 - 10 1428 c.1079T>A c.(1078-1080)cTg>cAg p.L360Q ALDH1L1_ENST00000472186.1_Missense_Mutation_p.L360Q|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.L360Q|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.L370Q|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.L259Q NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 360 Acyl carrier. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) TTCCTCCACCAGCCTGGAGGA 0.567000 34 24 0 0 1 0 0 SUGT1 10910 broad.mit.edu 37 13 53233376 53233376 + Missense_Mutation SNP A A G rs12875900 TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr13:53233376A>G ENST00000535397.1 + 6 525 c.152A>G c.(151-153)aAa>aGa p.K51R SUGT1_ENST00000483074.1_3'UTR|SUGT1_ENST00000343788.6_Missense_Mutation_p.K107R|SUGT1_ENST00000310528.7_Missense_Mutation_p.K107R Q9Y2Z0 SUGT1_HUMAN SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) 107 mitosis kinetochore|ubiquitin ligase complex binding kidney(3)|large_intestine(3)|lung(2) 8 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.25e-08) GAAGGACAAAAATTAGATAGT 0.249000 17 23 0 0 1 0 0 LOC440040 440040 broad.mit.edu 37 11 49598207 49598207 + RNA SNP T T C rs71479502 by1000genomes TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr11:49598207T>C ENST00000527477.1 + 0 811 TCCTCTTCCTTCTGCTCCAAG 0.502000 3 30 0 0 1 0 0 MCAM 4162 broad.mit.edu 37 11 119181165 119181165 + Missense_Mutation SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr11:119181165G>A ENST00000264036.4 - 15 1819 c.1805C>T c.(1804-1806)cCg>cTg p.P602L MCAM_ENST00000392814.1_3'UTR NM_006500.2 NP_006491.2 P43121 MUC18_HUMAN melanoma cell adhesion molecule 602 anatomical structure morphogenesis|cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1) 22 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) CTTACGAGACGGGGGTAGCGT 0.587000 58 99 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578553 7578553 + Splice_Site SNP T T C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr17:7578553T>C ENST00000420246.2 - 5 509 c.375_splice c.e5-1 p.Y126_splice TP53_ENST00000413465.2_Splice_Site_p.Y126_splice|TP53_ENST00000359597.4_Splice_Site_p.Y126_splice|TP53_ENST00000269305.4_Splice_Site_p.Y126_splice|TP53_ENST00000445888.2_Splice_Site_p.Y126_splice|TP53_ENST00000455263.2_Splice_Site_p.Y126_splice NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 126 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.Y126_K132delYSPALNK(6)|p.Y126C(4)|p.Y126_N131delYSPALN(3)|p.Y126fs*44(2)|p.Y126S(2)|p.V73fs*9(1)|p.?(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.Y126fs*18(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCAGGGGAGTACTGTAGGAA 0.557000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 22 12 0 0 1 0 0 TRBV6-9 28598 broad.mit.edu 37 7 142104314 142104314 + RNA SNP A A T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr7:142104314A>T ENST00000390379.1 - 0 150 TACCAGGACAAGTATCCATGG 0.512000 84 100 0 0 1 0 0 WSCD2 9671 broad.mit.edu 37 12 108634152 108634152 + Silent SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr12:108634152C>T ENST00000332082.4 + 9 1994 c.1176C>T c.(1174-1176)agC>agT p.S392S WSCD2_ENST00000547525.1_Silent_p.S392S|WSCD2_ENST00000549903.1_Silent_p.S392S|WSCD2_ENST00000261400.3_Silent_p.S392S Q2TBF2 WSCD2_HUMAN WSC domain containing 2 392 integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 ACTGGCGCAGCGGACGGACCA 0.607000 148 54 0 0 1 0 0 NXF3 56000 broad.mit.edu 37 X 102337236 102337236 + Missense_Mutation SNP A A C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chrX:102337236A>C ENST00000395065.3 - 9 938 c.837T>G c.(835-837)tgT>tgG p.C279W NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.C190W NM_022052.1 NP_071335.1 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 279 cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 TTCTGTCCGCACACTTCTCTC 0.532000 8 109 0 0 1 0 0 PEX5L 51555 broad.mit.edu 37 3 179592166 179592166 + Missense_Mutation SNP G G C rs139208096 TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr3:179592166G>C ENST00000467460.1 - 7 1005 c.675C>G c.(673-675)agC>agG p.S225R PEX5L_ENST00000485199.1_Missense_Mutation_p.S190R|PEX5L_ENST00000476138.1_Missense_Mutation_p.S182R|PEX5L_ENST00000472994.1_Missense_Mutation_p.S166R|PEX5L_ENST00000468741.1_Missense_Mutation_p.S33R|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.S201R|PEX5L_ENST00000464614.1_Missense_Mutation_p.S117R|PEX5L_ENST00000392649.3_Missense_Mutation_p.S117R|PEX5L_ENST00000263962.8_Missense_Mutation_p.S223R NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 225 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) AGTTGAGGGCGCTTTTTCCAC 0.393000 43 165 0 0 1 0 0 MAST1 22983 broad.mit.edu 37 19 12975624 12975624 + Splice_Site SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr19:12975624C>T ENST00000251472.4 + 13 1407 c.1366_splice c.e13-1 p.G456_splice NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 456 Protein kinase. cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 GGCCTGCAGGCGGCGACTGTG 0.537000 21 45 0 0 1 0 0 CDR2L 30850 broad.mit.edu 37 17 72998278 72998278 + Missense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr17:72998278C>T ENST00000337231.5 + 4 873 c.461C>T c.(460-462)aCc>aTc p.T154I NM_014603.2 NP_055418.2 Q86X02 CDR2L_HUMAN cerebellar degeneration-related protein 2-like 154 all_lung(278;0.226) CGCAGGCGTACCATCCACACC 0.647000 4 13 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139277978 139277978 + Missense_Mutation SNP A A G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr8:139277978A>G ENST00000395297.1 - 4 435 c.265T>C c.(265-267)Ttc>Ctc p.F89L NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 89 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TGAACTCGGAAGACCACAGCA 0.488000 HNSCC(54;0.14) 19 47 0 0 1 0 0 AGBL5 60509 broad.mit.edu 37 2 27276859 27276859 + Nonsense_Mutation SNP C C A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr2:27276859C>A ENST00000360131.4 + 4 642 c.483C>A c.(481-483)taC>taA p.Y161* AGBL5_ENST00000323064.8_Nonsense_Mutation_p.Y161*|RP11-503P10.1_ENST00000607407.1_RNA NM_021831.5 NP_068603.4 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 161 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 28 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCTTCTCCTACAGTGACTGCC 0.552000 87 138 1.02218e-41 1.19617e-41 1 1 0 SAP130 79595 broad.mit.edu 37 2 128775458 128775458 + Silent SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr2:128775458G>A ENST00000357702.5 - 3 353 c.222C>T c.(220-222)gtC>gtT p.V74V SAP130_ENST00000259234.6_Silent_p.V48V|SAP130_ENST00000259235.3_Silent_p.V74V NM_001145928.1 NP_001139400.1 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa 74 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 45 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) CCCTGGCACTGACTTCAGAAT 0.498000 31 52 0 0 1 0 0 LIPC 3990 broad.mit.edu 37 15 58834054 58834054 + Missense_Mutation SNP T T C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr15:58834054T>C ENST00000414170.3 + 4 631 c.344T>C c.(343-345)gTg>gCg p.V115A LIPC_ENST00000433326.2_Intron|LIPC_ENST00000299022.5_Missense_Mutation_p.V115A|LIPC_ENST00000356113.6_Missense_Mutation_p.V115A P11150 LIPC_HUMAN lipase, hepatic 115 cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) GCCCAGCCAGTGAACGTGGGG 0.652000 14 11 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10369589 10369589 + Splice_Site SNP C C A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr17:10369589C>A ENST00000255381.2 - 4 459 c.e4+1 CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.?(1) 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 AGGGTGCTCACGTAGATCATC 0.433000 55 99 4.88482e-21 5.59719e-21 1 1 0 PAFAH2 5051 broad.mit.edu 37 1 26301058 26301058 + Missense_Mutation SNP T T G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr1:26301058T>G ENST00000374282.3 - 9 1021 c.842A>C c.(841-843)aAt>aCt p.N281T PAFAH2_ENST00000374284.1_Missense_Mutation_p.N281T NM_000437.3 NP_000428.2 Q99487 PAFA2_HUMAN platelet-activating factor acetylhydrolase 2, 40kDa 281 lipid catabolic process cytoplasm 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1) 9 Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649) TTTCTCAGTATTGATAAAGAA 0.468000 24 28 0 0 1 0 0 FBXO31 79791 broad.mit.edu 37 16 87376494 87376494 + Missense_Mutation SNP C C A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr16:87376494C>A ENST00000311635.7 - 5 733 c.721G>T c.(721-723)Ggg>Tgg p.G241W NM_024735.3 NP_079011.3 Q5XUX0 FBX31_HUMAN F-box protein 31 241 cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process SCF ubiquitin ligase complex cyclin binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0272) TCCTGCCTCCCGCCGGACATC 0.557000 10 5 2.17888e-05 2.24697e-05 1 1 0 SLC7A2 6542 broad.mit.edu 37 8 17407860 17407860 + Missense_Mutation SNP T T C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr8:17407860T>C ENST00000470360.1 + 7 986 c.869T>C c.(868-870)aTg>aCg p.M290T SLC7A2_ENST00000522656.1_Missense_Mutation_p.M250T|SLC7A2_ENST00000004531.10_Missense_Mutation_p.M290T|SLC7A2_ENST00000494857.1_Missense_Mutation_p.M250T|SLC7A2_ENST00000398090.3_Missense_Mutation_p.M290T P52569 CTR2_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 250 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) GGTGGCTTTATGCCTTATGGC 0.448000 31 10 0 0 1 0 0 CLEC16A 23274 broad.mit.edu 37 16 11097000 11097000 + Missense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr16:11097000C>T ENST00000409790.1 + 11 1371 c.1141C>T c.(1141-1143)Cac>Tac p.H381Y CLEC16A_ENST00000409552.3_Missense_Mutation_p.H379Y NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 381 breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 GATGAACAAGCACAAGGGCAA 0.537000 15 35 0 0 1 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140735600 140735600 + Missense_Mutation SNP C C A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr5:140735600C>A ENST00000571252.1 + 1 833 c.833C>A c.(832-834)aCg>aAg p.T278K PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGACGTGACGTATTCTTTC 0.458000 4 32 0.014758 0.014848 1 1 0 CCDC39 339829 broad.mit.edu 37 3 180397180 180397180 + Translation_Start_Site SNP G G C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr3:180397180G>C ENST00000442201.2 - 0 108 CCDC39_ENST00000273654.4_Intron NM_181426.1 NP_852091.1 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 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) ACTGCAAACGGATAGAGAAGA 0.582000 45 450 0 0 1 0 0 RECQL 5965 broad.mit.edu 37 12 21630754 21630754 + Missense_Mutation SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr12:21630754G>A ENST00000444129.2 - 7 1318 c.850C>T c.(850-852)Cca>Tca p.P284S RECQL_ENST00000421138.2_Missense_Mutation_p.P284S NM_002907.3|NM_032941.2 NP_002898.2|NP_116559.1 P46063 RECQ1_HUMAN RecQ protein-like (DNA helicase Q1-like) 284 DNA recombination|DNA repair|DNA replication nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 17 TATAGATTTGGCCTATTAAAA 0.328000 Other identified genes with known or suspected DNA repair function 24 73 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78225481 78225481 + Missense_Mutation SNP C C A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr12:78225481C>A ENST00000397909.2 + 1 413 c.240C>A c.(238-240)agC>agA p.S80R NAV3_ENST00000228327.6_Missense_Mutation_p.S80R|NAV3_ENST00000536525.2_Missense_Mutation_p.S80R|NAV3_ENST00000266692.7_Missense_Mutation_p.S80R Q8IVL0 NAV3_HUMAN neuron navigator 3 80 CH. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity p.S80R(1) NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 AAGAAGACAGCAAGGTTAGTT 0.413000 HNSCC(70;0.22) 61 24 3.36121e-32 3.90563e-32 1 1 0 CNTNAP4 85445 broad.mit.edu 37 16 76555134 76555134 + Silent SNP T T C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr16:76555134T>C ENST00000307431.8 + 17 2845 c.2460T>C c.(2458-2460)ttT>ttC p.F820F CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Silent_p.F824F|CNTNAP4_ENST00000478060.1_Silent_p.F748F|CNTNAP4_ENST00000377504.4_Silent_p.F772F NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 821 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 CTTTCTTTTTTAAGACAACAG 0.408000 79 249 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114277023 114277023 + Missense_Mutation SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr4:114277023G>A ENST00000357077.4 + 38 7302 c.7249G>A c.(7249-7251)Gat>Aat p.D2417N ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.D2384N NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2384 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) CCCTAGCCGAGATAGCGAAGT 0.498000 26 17 0 0 1 0 0 SCAI 286205 broad.mit.edu 37 9 127715225 127715225 + Missense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr9:127715225C>T ENST00000336505.5 - 18 1740 c.1682G>A c.(1681-1683)cGa>cAa p.R561Q SCAI_ENST00000373549.4_Missense_Mutation_p.R584Q NM_001144877.2 NP_001138349.1 Q8N9R8 SCAI_HUMAN suppressor of cancer cell invasion 561 negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|integral to membrane|nucleus protein binding|transcription corepressor activity p.R584Q(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1) 35 TGGATAATTTCGTGTTTCCTG 0.358000 43 43 0 0 1 0 0 GLIS3 169792 broad.mit.edu 37 9 4117821 4117821 + Missense_Mutation SNP T T C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr9:4117821T>C ENST00000324333.10 - 3 1385 c.1192A>G c.(1192-1194)Aaa>Gaa p.K398E GLIS3_ENST00000381971.3_Missense_Mutation_p.K553E NM_152629.3 NP_689842.3 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 398 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) ATCAGCAGTTTATAGCGGGCG 0.567000 70 31 0 0 1 0 0 IGHG4 3503 broad.mit.edu 37 14 106092259 106092259 + RNA SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr14:106092259C>T ENST00000390543.2 - 0 144 GTGTGCACGCCGCTGGTCAGG 0.652000 9 65 0 0 1 0 0 FER1L5 90342 broad.mit.edu 37 2 97361486 97361486 + RNA SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr2:97361486C>T ENST00000457909.1 + 0 3405 A0AVI2 FR1L5_HUMAN fer-1-like 5 (C. elegans) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 38 CAGCTCATGCCGACGGAGGAG 0.642000 7 14 0 0 1 0 0 CNKSR2 22866 broad.mit.edu 37 X 21515965 21515965 + Splice_Site SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chrX:21515965G>A ENST00000425654.2 + 7 1221 c.e7+1 CNKSR2_ENST00000279451.4_Splice_Site|CNKSR2_ENST00000379510.3_Splice_Site|CNKSR2_ENST00000543067.1_Splice_Site NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 CACAGAAAATGTAAGTATTCT 0.308000 15 8 0 0 1 0 0 CLDND1 56650 broad.mit.edu 37 3 98240121 98240121 + Missense_Mutation SNP T T A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr3:98240121T>A ENST00000503004.1 - 2 1027 c.148A>T c.(148-150)Atc>Ttc p.I50F CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000437922.1_Missense_Mutation_p.I73F|CLDND1_ENST00000394180.2_Missense_Mutation_p.I50F|CLDND1_ENST00000394181.2_Missense_Mutation_p.I50F|CLDND1_ENST00000394185.2_Missense_Mutation_p.I50F|CLDND1_ENST00000341181.6_Missense_Mutation_p.I50F|CLDND1_ENST00000513287.1_Missense_Mutation_p.I50F|CLDND1_ENST00000510545.1_Missense_Mutation_p.I50F|CLDND1_ENST00000511081.1_Intron|CLDND1_ENST00000508503.1_5'UTR|CLDND1_ENST00000507874.1_Missense_Mutation_p.I50F Q9NY35 CLDN1_HUMAN claudin domain containing 1 50 integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 9 TCATCCCAGATGCTTTTATTC 0.413000 33 63 0 0 1 0 0 ADM2 79924 broad.mit.edu 37 22 50921172 50921172 + Missense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr22:50921172C>T ENST00000395738.2 + 2 579 c.287C>T c.(286-288)tCg>tTg p.S96L ADM2_ENST00000395737.1_Missense_Mutation_p.S96L|ADM2_ENST00000362068.2_Missense_Mutation_p.R13W NM_001253845.1|NM_024866.5 NP_001240774.1|NP_079142.2 Q7Z4H4 ADM2_HUMAN adrenomedullin 2 96 positive regulation of angiogenesis extracellular region hormone activity breast(1)|kidney(1) 2 all_cancers(38;4.58e-14)|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) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CGAAGACACTCGGGCCCCCGC 0.697000 11 7 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88962841 88962841 + Missense_Mutation SNP G G A rs139327261 byFrequency TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr7:88962841G>A ENST00000333190.4 + 4 1154 c.545G>A c.(544-546)cGg>cAg p.R182Q NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 182 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) GATAAACAGCGGTCCACCATG 0.418000 HNSCC(36;0.09) 35 63 0 0 1 0 0 CROCC 9696 broad.mit.edu 37 1 17256382 17256382 + Silent SNP G G T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr1:17256382G>T ENST00000375541.5 + 4 462 c.393G>T c.(391-393)acG>acT p.T131T CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 131 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) AGCTGGAGACGCAGGAGCCCA 0.697000 2 2 0.115264 0.115264 1 1 0 PMVK 10654 broad.mit.edu 37 1 154898884 154898884 + Missense_Mutation SNP G G A rs150445298 TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr1:154898884G>A ENST00000368467.3 - 4 693 c.388C>T c.(388-390)Cgc>Tgc p.R130C NM_006556.3 NP_006547.1 Q15126 PMVK_HUMAN phosphomevalonate kinase 130 cholesterol biosynthetic process|protein phosphorylation cytosol|peroxisome ATP binding|phosphomevalonate kinase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142) BRCA - Breast invasive adenocarcinoma(34;0.00034) GCTACAACGCGGACCGTCTGC 0.622000 4 62 0 0 1 0 0 LRRC10 376132 broad.mit.edu 37 12 70004207 70004207 + Missense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr12:70004207C>T ENST00000361484.3 - 1 735 c.412G>A c.(412-414)Gat>Aat p.D138N NM_201550.2 NP_963844.2 Q5BKY1 LRC10_HUMAN leucine rich repeat containing 10 138 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) CAGACCACATCCGGCAGCTGG 0.632000 30 85 0 0 1 0 0 ITGB3 3690 broad.mit.edu 37 17 45368453 45368453 + Missense_Mutation SNP C C T rs147758772 TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr17:45368453C>T ENST00000571680.1 + 9 1268 c.1259C>T c.(1258-1260)aCg>aTg p.T420M ITGB3_ENST00000560629.1_Splice_Site_p.H408_splice|ITGB3_ENST00000559488.1_Splice_Site_p.T420_splice|ITGB3_ENST00000435993.2_Splice_Site_p.T373_splice P05106 ITB3_HUMAN integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 420 activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 39 Abciximab(DB00054)|Tirofiban(DB00775) ATTGGAGACACGGTGAGGTGG 0.542000 36 56 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41684252 41684252 + Silent SNP T T C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr21:41684252T>C ENST00000400454.1 - 9 2295 c.1818A>G c.(1816-1818)agA>agG p.R606R NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 606 Ig-like C2-type 7. 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) CAATGGAGAATCTTGGAAACT 0.478000 16 42 0 0 1 0 0 LILRA4 23547 broad.mit.edu 37 19 54850163 54850163 + Missense_Mutation SNP A A G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr19:54850163A>G ENST00000291759.4 - 2 100 c.44T>C c.(43-45)cTg>cCg p.L15P NM_012276.3 NP_036408.3 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 15 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) CCTGGGGCCCAGGCTCAGCCC 0.622000 OREG0003656 type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 18 27 0 0 1 0 0 JRK 8629 broad.mit.edu 37 8 143745934 143745934 + RNA SNP C C A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr8:143745934C>A ENST00000507178.2 - 0 1876 jerky homolog (mouse) all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;2.31e-05) GCGCCCgcagctgccccactt 0.706000 8 6 1.26484e-09 1.3647e-09 1 1 0 FNDC1 84624 broad.mit.edu 37 6 159655239 159655239 + Missense_Mutation SNP C C A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr6:159655239C>A ENST00000297267.9 + 11 3895 c.3695C>A c.(3694-3696)cCt>cAt p.P1232H FNDC1_ENST00000340366.6_Missense_Mutation_p.P1169H NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1232 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GCGCTTGCCCCTCGCGGAGGG 0.697000 4 10 0.014758 0.0148485 1 1 0 SERPINI1 5274 broad.mit.edu 37 3 167525052 167525052 + Missense_Mutation SNP T T A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr3:167525052T>A ENST00000295777.5 + 6 1333 c.902T>A c.(901-903)aTt>aAt p.I301N SERPINI1_ENST00000446050.2_Missense_Mutation_p.I301N|SERPINI1_ENST00000488374.1_3'UTR NM_005025.4 NP_005016.1 Q99574 NEUS_HUMAN serpin peptidase inhibitor, clade I (neuroserpin), member 1 301 central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2) 20 GAACAGGAAATTGATTTAAAA 0.338000 68 221 0 0 1 0 0 IQCG 84223 broad.mit.edu 37 3 197619560 197619560 + Missense_Mutation SNP A A G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr3:197619560A>G ENST00000265239.6 - 10 1458 c.1034T>C c.(1033-1035)cTa>cCa p.L345P IQCG_ENST00000455191.1_Missense_Mutation_p.L345P NM_032263.3 NP_115639.1 Q9H095 IQCG_HUMAN IQ motif containing G 345 autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) GAGAGCATTTAGTTCATTCTG 0.438000 104 633 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32972595 32972595 + Missense_Mutation SNP A A T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr13:32972595A>T ENST00000544455.1 + 27 10172 c.9945A>T c.(9943-9945)aaA>aaT p.K3315N BRCA2_ENST00000380152.3_Missense_Mutation_p.K3315N NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 3315 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TAAAGAAAAAAGAACTGAATT 0.368000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 34 51 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 84996292 84996292 + Missense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr11:84996292C>T ENST00000376104.2 - 4 469 c.158G>A c.(157-159)tGc>tAc p.C53Y DLG2_ENST00000543673.1_Missense_Mutation_p.C53Y NM_001142699.1 NP_001136171.1 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 0 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TCTGTCATGGCACGGAGCAAG 0.383000 41 113 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108371726 108371726 + Silent SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr10:108371726C>T ENST00000263054.6 - 22 2983 c.2976G>A c.(2974-2976)ccG>ccA p.P992P SORCS1_ENST00000369698.1_Silent_p.P527P|SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000344440.6_Silent_p.P992P NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 992 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) CAGGGATGTCCGGGTTGTAGT 0.483000 24 27 0 0 1 0 0 FAM160B1 57700 broad.mit.edu 37 10 116590627 116590627 + Missense_Mutation SNP C C G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr10:116590627C>G ENST00000369248.4 + 2 397 c.62C>G c.(61-63)cCt>cGt p.P21R FAM160B1_ENST00000369246.1_Missense_Mutation_p.P21R|FAM160B1_ENST00000369250.3_Missense_Mutation_p.P21R NM_020940.3 NP_065991.3 Q5W0V3 F16B1_HUMAN family with sequence similarity 160, member B1 21 NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13) 25 CCTTCTCTTCCTTTACAAGAA 0.318000 22 61 0 0 1 0 0 EXD3 54932 broad.mit.edu 37 9 140245541 140245541 + Silent SNP A A G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr9:140245541A>G ENST00000340951.4 - 14 1638 c.1443T>C c.(1441-1443)caT>caC p.H481H EXD3_ENST00000342129.4_Silent_p.H161H NM_017820.3 NP_060290.3 Q8N9H8 MUT7_HUMAN exonuclease 3'-5' domain containing 3 481 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2) 12 GCTTCTCCACATGGGCCAGGG 0.672000 6 6 0 0 1 0 0 ZNF484 83744 broad.mit.edu 37 9 95610231 95610231 + Missense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr9:95610231C>T ENST00000395505.2 - 3 822 c.730G>A c.(730-732)Gaa>Aaa p.E244K ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.E244K|ZNF484_ENST00000395506.3_Missense_Mutation_p.E282K|ZNF484_ENST00000375495.3_Missense_Mutation_p.E280K NM_001261459.1|NM_001261460.1 NP_001248388.1|NP_001248389.1 Q5JVG2 ZN484_HUMAN zinc finger protein 484 280 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E280*(1) NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2) 33 TCATGGCATTCATGCTGCTTT 0.428000 33 121 0 0 1 0 0 KCNJ9 3765 broad.mit.edu 37 1 160054148 160054148 + Missense_Mutation SNP G G C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr1:160054148G>C ENST00000368088.3 + 2 570 c.328G>C c.(328-330)Gcc>Ccc p.A110P NM_004983.2 NP_004974.2 Q92806 IRK9_HUMAN potassium inwardly-rectifying channel, subfamily J, member 9 110 synaptic transmission integral to membrane|plasma membrane G-protein activated inward rectifier potassium channel activity|protein binding biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2) 16 all_cancers(52;5.86e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CTTCGTGGCCGCCTTCCTCTT 0.677000 15 36 0 0 1 0 0 ZC3H18 124245 broad.mit.edu 37 16 88689626 88689626 + Splice_Site SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr16:88689626G>A ENST00000301011.5 + 10 1867 c.e10-1 ZC3H18_ENST00000452588.2_Splice_Site NM_144604.3 NP_653205.3 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 nucleus nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 42 BRCA - Breast invasive adenocarcinoma(80;0.0542) GCCCGCCCCAGGTCGTCTTCG 0.657000 24 20 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108773582 108773582 + Silent SNP G G T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr3:108773582G>T ENST00000232603.5 - 14 1405 c.1323C>A c.(1321-1323)acC>acA p.T441T MORC1_ENST00000483760.1_Silent_p.T441T NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 441 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 CACTGATGCCGGTGTCCTTAC 0.373000 43 118 7.05121e-23 8.14365e-23 1 1 0 IGHG4 3503 broad.mit.edu 37 14 106091490 106091490 + RNA SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr14:106091490C>T ENST00000390543.2 - 0 403 CTCAGGGGTCCGGGAGATCAT 0.592000 35 192 0 0 1 0 0 ROBO4 54538 broad.mit.edu 37 11 124756993 124756993 + Missense_Mutation SNP G G T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr11:124756993G>T ENST00000306534.3 - 15 2800 c.2315C>A c.(2314-2316)cCa>cAa p.P772Q RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.P627Q NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 772 Pro/Ser-rich. angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) ACTGGAAGCTGGGCTGGGGCC 0.652000 29 45 1.77063e-15 1.98893e-15 1 1 0 KTN1 3895 broad.mit.edu 37 14 56142559 56142559 + Missense_Mutation SNP G G C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr14:56142559G>C ENST00000416613.1 + 40 3850 c.3778G>C c.(3778-3780)Gca>Cca p.A1260P KTN1_ENST00000395308.1_Missense_Mutation_p.A1209P|KTN1_ENST00000395314.3_Missense_Mutation_p.A1260P|KTN1_ENST00000395311.1_Missense_Mutation_p.A1209P|KTN1_ENST00000554507.1_Missense_Mutation_p.A498P|KTN1_ENST00000438792.2_Missense_Mutation_p.A1203P|KTN1_ENST00000555573.1_Missense_Mutation_p.A237P|KTN1_ENST00000395309.3_Missense_Mutation_p.A1260P|KTN1_ENST00000413890.2_Missense_Mutation_p.A1209P Q86UP2 KTN1_HUMAN kinectin 1 (kinesin receptor) 1260 microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 19 ACAGTTGAAGGCACAGTTAAA 0.368000 T RET papillary thryoid 26 47 0 0 1 0 0 SEMA5A 9037 broad.mit.edu 37 5 9202097 9202097 + Missense_Mutation SNP T T C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr5:9202097T>C ENST00000382496.5 - 9 1567 c.902A>G c.(901-903)gAt>gGt p.D301G NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 301 Sema. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 ATAGATCAAATCCAGCTCAGG 0.438000 34 43 0 0 1 0 0 NT5DC2 64943 broad.mit.edu 37 3 52562303 52562303 + Missense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr3:52562303C>T ENST00000307076.4 - 6 956 c.556G>A c.(556-558)Gac>Aac p.D186N NT5DC2_ENST00000307092.4_Missense_Mutation_p.D127N|NT5DC2_ENST00000422318.2_Missense_Mutation_p.D223N|NT5DC2_ENST00000459839.1_Missense_Mutation_p.D198N NM_022908.2 NP_075059.1 Q9H857 NT5D2_HUMAN 5'-nucleotidase domain containing 2 186 hydrolase activity|metal ion binding endometrium(1)|lung(3)|prostate(1)|stomach(1) 6 BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476) GAGAAGATGTCCATGAACTGC 0.572000 4 55 0 0 1 0 0 TIGD4 201798 broad.mit.edu 37 4 153691671 153691671 + Nonsense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr4:153691671C>T ENST00000304337.2 - 2 1306 c.486G>A c.(484-486)tgG>tgA p.W162* NM_145720.3 NP_663772.1 Q8IY51 TIGD4_HUMAN tigger transposable element derived 4 162 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|DNA binding breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.093) CATTTTGGTACCAGACAGTCG 0.363000 35 30 0 0 1 0 0 RAG2 5897 broad.mit.edu 37 11 36614195 36614195 + Missense_Mutation SNP T T A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr11:36614195T>A ENST00000311485.3 - 2 1685 c.1524A>T c.(1522-1524)aaA>aaT p.K508N NM_000536.3|NM_001243785.1|NM_001243786.1 NP_000527.2|NP_001230714.1|NP_001230715.1 P55895 RAG2_HUMAN recombination activating gene 2 508 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 32 all_lung(20;0.226) all_hematologic(20;0.00756) TTCCAGAACCTTTTTTACGGA 0.393000 Familial Hemophagocytic Lymphohistiocytosis 4 43 0 0 1 0 0 OR2T12 127064 broad.mit.edu 37 1 248458473 248458473 + Nonsense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr1:248458473C>T ENST00000317996.1 - 1 407 c.408G>A c.(406-408)tgG>tgA p.W136* NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 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;0.0201) GGCACAGCTGCCAGCTCATGA 0.607000 25 31 0 0 1 0 0 CLCA2 9635 broad.mit.edu 37 1 86913313 86913313 + Silent SNP A A G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr1:86913313A>G ENST00000370565.4 + 11 1998 c.1836A>G c.(1834-1836)gaA>gaG p.E612E NM_006536.5 NP_006527.1 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 612 cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) CCTTTGTGGAAAGAGACAGCC 0.493000 63 105 0 0 1 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 6 32 0 0 1 0 0 CRIPAK 285464 broad.mit.edu 37 4 1388818 1388818 + Silent SNP A A T rs71299249 byFrequency TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr4:1388818A>T ENST00000324803.4 + 1 3479 c.519A>T c.(517-519)ccA>ccT p.P173P NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 173 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) ACACGTGCCCATGTGGAGTGC 0.682000 4 14 0 0 1 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475051 140475051 + Missense_Mutation SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr5:140475051G>A ENST00000194155.4 + 1 825 c.677G>A c.(676-678)gGc>gAc p.G226D NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 226 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCAGGTCCGGCACGGCCCTG 0.582000 11 27 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179484368 179484368 + Missense_Mutation SNP C C G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr2:179484368C>G ENST00000589042.1 - 250 46900 c.46676G>C c.(46675-46677)aGa>aCa p.R15559T TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R6619T|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R12991T|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R13918T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R6686T|TTN_ENST00000460472.2_Missense_Mutation_p.R6494T NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13918 Fibronectin type-III 13. 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) AAGCTTAGCTCTGGCTTCTTT 0.373000 43 75 0 0 1 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70667725 70667725 + Missense_Mutation SNP T T C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr8:70667725T>C ENST00000260126.3 - 4 1898 c.1192A>G c.(1192-1194)Aaa>Gaa p.K398E SLCO5A1_ENST00000524945.1_Missense_Mutation_p.K398E|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.K398E NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 398 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TTGTTTGATTTCTCCTTCAGA 0.358000 28 49 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56205156 56205156 + Missense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr18:56205156C>T ENST00000361673.3 - 5 2476 c.2263G>A c.(2263-2265)Gtg>Atg p.V755M RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 755 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 CTTGAGAACACACCTGGGGAC 0.502000 6 121 0 0 1 0 0 OLFML2A 169611 broad.mit.edu 37 9 127566456 127566456 + Missense_Mutation SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr9:127566456G>A ENST00000373580.3 + 6 1003 c.1003G>A c.(1003-1005)Gca>Aca p.A335T OLFML2A_ENST00000288815.5_Missense_Mutation_p.A121T NM_182487.2 NP_872293.2 Q68BL7 OLM2A_HUMAN olfactomedin-like 2A 335 endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 25 GCCCAACTCCGCAGAGCAGGA 0.652000 47 22 0 0 1 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169540249 169540249 + Silent SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr3:169540249C>T ENST00000340806.6 + 1 540 c.540C>T c.(538-540)ttC>ttT p.F180F NM_001080460.1 NP_001073929.1 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 180 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 TTGAAGTTTTCCCCCAGGAGC 0.517000 48 252 0 0 1 0 0 SELPLG 6404 broad.mit.edu 37 12 109016914 109016914 + Silent SNP C C A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr12:109016914C>A ENST00000388962.3 - 3 1299 c.1140G>T c.(1138-1140)ccG>ccT p.P380P SELPLG_ENST00000550948.1_Silent_p.P390P|SELPLG_ENST00000228463.6_Silent_p.P406P NM_003006.4 NP_002997.2 Q14242 SELPL_HUMAN selectin P ligand 390 blood coagulation|cellular response to interleukin-6 integral to plasma membrane|membrane fraction bacterial cell surface binding|receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1) 12 GCGTCAGGCCCGGGCTCTTGG 0.642000 20 8 8.00594e-06 8.4165e-06 1 1 0 KCNU1 157855 broad.mit.edu 37 8 36766941 36766941 + Missense_Mutation SNP C C G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr8:36766941C>G ENST00000399881.3 + 21 2256 c.2219C>G c.(2218-2220)gCc>gGc p.A740G NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 740 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) CCCTTGAGAGCCAGCAACTAT 0.458000 106 247 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27089635 27089635 + Missense_Mutation SNP G G T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr1:27089635G>T ENST00000324856.7 + 8 2962 c.2591G>T c.(2590-2592)gGc>gTc p.G864V ARID1A_ENST00000457599.2_Missense_Mutation_p.G864V|ARID1A_ENST00000374152.2_Missense_Mutation_p.G481V NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 864 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GCCTCCATGGGCAACCGGCCT 0.587000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 15 15 1.5739e-10 1.72079e-10 1 1 0 SF3B3 23450 broad.mit.edu 37 16 70590203 70590203 + Missense_Mutation SNP A A T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr16:70590203A>T ENST00000302516.5 + 14 2043 c.1832A>T c.(1831-1833)gAc>gTc p.D611V NM_012426.4 NP_036558.3 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3, 130kDa 611 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 53 Ovarian(137;0.0694) GGGCTTGTGGACAACACTGTC 0.542000 59 157 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237949308 237949308 + Missense_Mutation SNP G G C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr1:237949308G>C ENST00000366574.2 + 91 13617 c.13300G>C c.(13300-13302)Gaa>Caa p.E4434Q RYR2_ENST00000542537.1_Missense_Mutation_p.E4418Q|RYR2_ENST00000360064.6_Missense_Mutation_p.E4440Q NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4434 Glu-rich (acidic). 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) agaaaaagaagaaACCAAATC 0.358000 5 6 0 0 1 0 0 ZNF285 26974 broad.mit.edu 37 19 44890792 44890792 + Missense_Mutation SNP G G C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr19:44890792G>C ENST00000330997.4 - 4 1679 c.1615C>G c.(1615-1617)Ccc>Gcc p.P539A ZNF285_ENST00000591679.1_Missense_Mutation_p.P546A|ZNF285_ENST00000544719.2_Missense_Mutation_p.P539A|CTC-512J12.6_ENST00000588212.1_Intron NM_152354.3 NP_689567.3 zinc finger protein 285 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 CACTTATAGGGCCTCTCTCTT 0.438000 36 27 0 0 1 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659578 24659578 + RNA SNP A A G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr22:24659578A>G ENST00000414583.2 + 0 3103 NR_003714.1 TGCGCAGGCCAACACTCACTG 0.617000 3 27 0 0 1 0 0 BARHL2 343472 broad.mit.edu 37 1 91178026 91178026 + Missense_Mutation SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr1:91178026G>A ENST00000370445.4 - 3 1048 c.1007C>T c.(1006-1008)gCc>gTc p.A336V NM_020063.1 NP_064447.1 Q9NY43 BARH2_HUMAN BarH-like homeobox 2 336 nucleus sequence-specific DNA binding cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_lung(203;0.0263)|Lung SC(238;0.128) all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211) GCTGTACATGGCAGCGGCAGC 0.647000 7 15 0 0 1 0 0 SLF2 55719 broad.mit.edu 37 10 102684308 102684308 + Missense_Mutation SNP A A G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr10:102684308A>G ENST00000238961.3 + 5 1698 c.1550A>G c.(1549-1551)gAa>gGa p.E517G FAM178A_ENST00000370269.3_Missense_Mutation_p.E517G|FAM178A_ENST00000370271.3_Missense_Mutation_p.E517G NM_018121.3 NP_060591.3 Q8IX21 F178A_HUMAN family with sequence similarity 178, member A 517 CATTCTACAGAATCCACCAAA 0.393000 70 82 0 0 1 0 0 MTHFD1L 25902 broad.mit.edu 37 6 151293189 151293189 + Missense_Mutation SNP T T A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr6:151293189T>A ENST00000367321.3 + 20 2394 c.2120T>A c.(2119-2121)tTt>tAt p.F707Y MTHFD1L_ENST00000478643.1_3'UTR NM_001242767.1|NM_001242768.1|NM_015440.4 NP_001229696.1|NP_001229697.1|NP_056255.2 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 707 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 29 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) GAAGAAGGATTTGTAGGTAAG 0.398000 19 50 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1843127 1843127 + Silent SNP C C A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr2:1843127C>A ENST00000399161.2 - 21 3621 c.2874G>T c.(2872-2874)ggG>ggT p.G958G MYT1L_ENST00000407844.1_5'UTR|MYT1L_ENST00000428368.2_Silent_p.G956G|MYT1L_ENST00000471668.1_5'UTR NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 958 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) GGCCGTCGCACCCGGGGACCG 0.617000 30 53 2.68265e-12 2.97267e-12 1 1 0 MYO18B 84700 broad.mit.edu 37 22 26242142 26242142 + Silent SNP C C G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr22:26242142C>G ENST00000335473.7 + 19 3694 c.3444C>G c.(3442-3444)ggC>ggG p.G1148G MYO18B_ENST00000407587.2_Silent_p.G1149G|MYO18B_ENST00000536101.1_Silent_p.G1148G NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1148 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GCCTGGAGGGCACCTCCCAGC 0.667000 9 15 0 0 1 0 0 KCNJ8 3764 broad.mit.edu 37 12 21918866 21918866 + Nonsense_Mutation SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr12:21918866G>A ENST00000240662.2 - 3 1411 c.1066C>T c.(1066-1068)Cga>Tga p.R356* RP11-59N23.1_ENST00000542489.1_RNA NM_004982.3 NP_004973.1 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel, subfamily J, member 8 356 voltage-gated potassium channel complex cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 Levosimendan(DB00922) TCCAGCTCTCGGGCACTGCAC 0.463000 72 152 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296167 39296167 + Silent SNP A A G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr17:39296167A>G ENST00000345847.4 - 1 572 c.573T>C c.(571-573)atT>atC p.I191I NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 187 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GGCAGGTGGAAATGACACAGG 0.627000 4 11 0 0 1 0 0 ZNF214 7761 broad.mit.edu 37 11 7021319 7021319 + Missense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr11:7021319C>T ENST00000278314.4 - 3 1910 c.1595G>A c.(1594-1596)gGa>gAa p.G532E ZNF214_ENST00000536068.1_Missense_Mutation_p.G532E NM_013249.2 NP_037381.2 Q9UL59 ZN214_HUMAN zinc finger protein 214 532 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) AAAACCCTTTCCACAATCATG 0.413000 56 41 0 0 1 0 0 C17orf62 79415 broad.mit.edu 37 17 80401777 80401777 + Silent SNP G G C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr17:80401777G>C ENST00000336995.7 - 6 669 c.222C>G c.(220-222)ccC>ccG p.P74P C17orf62_ENST00000577436.1_3'UTR|C17orf62_ENST00000306645.5_3'UTR|C17orf62_ENST00000578919.1_3'UTR|C17orf62_ENST00000437807.2_3'UTR|C17orf62_ENST00000577732.1_3'UTR|C17orf62_ENST00000434650.2_3'UTR|C17orf62_ENST00000342572.8_3'UTR|C17orf62_ENST00000583617.1_Intron|C17orf62_ENST00000585064.1_3'UTR Q9BQA9 CQ062_HUMAN chromosome 17 open reading frame 62 0 integral to membrane protein binding breast(2)|large_intestine(2)|skin(2)|urinary_tract(2) 8 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) CAGGCACACCGGGAATGTGCC 0.706000 8 168 0 0 1 0 0 NOXA1 10811 broad.mit.edu 37 9 140327703 140327703 + Silent SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr9:140327703C>T ENST00000341349.2 + 10 1077 c.897C>T c.(895-897)ccC>ccT p.P299P NOXA1_ENST00000392815.2_Silent_p.P243P NM_001256067.1|NM_006647.1 NP_001242996.1|NP_006638.1 Q86UR1 NOXA1_HUMAN NADPH oxidase activator 1 299 Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate). regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process cytoplasm|NADPH oxidase complex Rac GTPase binding|superoxide-generating NADPH oxidase activator activity cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1) 9 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982) GTGAGGACCCCGCGGGTGCTG 0.652000 4 13 0 0 1 0 0 CD1A 909 broad.mit.edu 37 1 158226702 158226702 + Missense_Mutation SNP A A T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr1:158226702A>T ENST00000289429.5 + 4 1264 c.731A>T c.(730-732)cAg>cTg p.Q244L NM_001763.2 NP_001754.2 P06126 CD1A_HUMAN CD1a molecule 244 Ig-like. antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 32 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) GAGCAGGAGCAGCAGGGCACT 0.642000 32 83 0 0 1 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475050 140475050 + Missense_Mutation SNP G G T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr5:140475050G>T ENST00000194155.4 + 1 824 c.676G>T c.(676-678)Ggc>Tgc p.G226C NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 226 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACCCAGGTCCGGCACGGCCCT 0.582000 11 27 4.68919e-08 5.02632e-08 1 1 0 NRDE2 55051 broad.mit.edu 37 14 90767686 90767686 + Missense_Mutation SNP C C T rs150270537 TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr14:90767686C>T ENST00000354366.3 - 7 1674 c.1442G>A c.(1441-1443)cGg>cAg p.R481Q NRDE2_ENST00000357904.3_Missense_Mutation_p.R250Q NM_017970.3 NP_060440.2 NRDE-2, necessary for RNA interference, domain containing GCCAGCCTGCCGCAGAAAGTG 0.517000 21 31 0 0 1 0 0 OLFML2A 169611 broad.mit.edu 37 9 127557384 127557384 + Missense_Mutation SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr9:127557384G>A ENST00000373580.3 + 3 436 c.436G>A c.(436-438)Gcc>Acc p.A146T NM_182487.2 NP_872293.2 Q68BL7 OLM2A_HUMAN olfactomedin-like 2A 146 endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 25 CCACAAGGTGGCCTCCCAGAT 0.652000 8 15 0 0 1 0 0 PCED1B 91523 broad.mit.edu 37 12 47629946 47629946 + Missense_Mutation SNP T T C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr12:47629946T>C ENST00000546455.1 + 4 1831 c.1100T>C c.(1099-1101)tTc>tCc p.F367S PCED1B_ENST00000432328.1_Missense_Mutation_p.F367S PC-esterase domain containing 1B CATGCAGGTTTCTTCGTCGAA 0.522000 58 168 0 0 1 0 0 ZNF83 55769 broad.mit.edu 37 19 53117347 53117347 + Silent SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr19:53117347G>A ENST00000597597.1 - 2 2724 c.471C>T c.(469-471)gtC>gtT p.V157V ZNF83_ENST00000541777.2_Silent_p.V157V|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000391789.4_Silent_p.V157V|ZNF83_ENST00000545872.1_Silent_p.V157V|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000544146.1_Silent_p.V157V|ZNF83_ENST00000301096.3_Silent_p.V157V|ZNF83_ENST00000536937.1_Silent_p.V157V P51522 ZNF83_HUMAN zinc finger protein 83 157 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) TATTATGGAAGACCTTGCCAC 0.353000 28 24 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61859022 61859022 + Silent SNP A A T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr16:61859022A>T ENST00000577390.1 - 5 1683 c.729T>A c.(727-729)gtT>gtA p.V243V CDH8_ENST00000299345.6_Silent_p.V243V|CDH8_ENST00000584337.1_Silent_p.V243V|CDH8_ENST00000577730.1_Silent_p.V243V NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 243 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TGGCTTGGATAACAACCAGGT 0.458000 31 84 0 0 1 0 0 LINGO4 339398 broad.mit.edu 37 1 151774779 151774779 + Silent SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr1:151774779C>T ENST00000368820.3 - 2 1339 c.402G>A c.(400-402)ctG>ctA p.L134L NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 134 integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) CCAGCAGGGTCAGAGCAGAGA 0.597000 82 89 0 0 1 0 0 AGL 178 broad.mit.edu 37 1 100358058 100358058 + Missense_Mutation SNP A A G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr1:100358058A>G ENST00000294724.4 + 24 3632 c.3154A>G c.(3154-3156)Aaa>Gaa p.K1052E AGL_ENST00000370163.3_Missense_Mutation_p.K1052E|AGL_ENST00000361522.4_Missense_Mutation_p.K1035E|AGL_ENST00000361915.3_Missense_Mutation_p.K1052E|AGL_ENST00000370161.2_Missense_Mutation_p.K1036E|AGL_ENST00000361302.3_Missense_Mutation_p.K1036E|AGL_ENST00000370165.3_Missense_Mutation_p.K1052E NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 1052 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) TGGAGTAGGAAAATTCCCTTC 0.378000 55 54 0 0 1 0 0 NOXA1 10811 broad.mit.edu 37 9 140327704 140327704 + Missense_Mutation SNP G G T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr9:140327704G>T ENST00000341349.2 + 10 1078 c.898G>T c.(898-900)Gcg>Tcg p.A300S NOXA1_ENST00000392815.2_Missense_Mutation_p.A244S NM_001256067.1|NM_006647.1 NP_001242996.1|NP_006638.1 Q86UR1 NOXA1_HUMAN NADPH oxidase activator 1 300 Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate). regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process cytoplasm|NADPH oxidase complex Rac GTPase binding|superoxide-generating NADPH oxidase activator activity cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1) 9 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982) TGAGGACCCCGCGGGTGCTGG 0.652000 4 13 0.00024832 0.000256129 1 1 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 5 82 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155451295 155451295 + Missense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr6:155451295C>T ENST00000461783.3 + 6 2211 c.938C>T c.(937-939)cCc>cTc p.P313L TIAM2_ENST00000529824.2_Missense_Mutation_p.P313L|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.P313L|TIAM2_ENST00000456144.1_Missense_Mutation_p.P313L|TIAM2_ENST00000360366.4_Missense_Mutation_p.P313L Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 313 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) AGCCTCTCCCCCTCAGGTATC 0.557000 24 41 0 0 1 0 0 RPL23AP53 644128 broad.mit.edu 37 8 163387 163387 + RNA SNP C C T rs3008286 by1000genomes TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr8:163387C>T ENST00000606975.1 - 0 534 CACAGCCTGTCTGATCTGGTG 0.468000 4 23 0 0 1 0 0 MRPS2 51116 broad.mit.edu 37 9 138395504 138395504 + Missense_Mutation SNP A A T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr9:138395504A>T ENST00000371785.1 + 5 625 c.416A>T c.(415-417)aAg>aTg p.K139M MRPS2_ENST00000241600.5_Missense_Mutation_p.K139M|RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000488610.1_3'UTR Q9Y399 RT02_HUMAN mitochondrial ribosomal protein S2 139 translation mitochondrion|small ribosomal subunit structural constituent of ribosome large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1) 6 OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42) GCCTACCGCAAGGGCATCATC 0.577000 26 60 0 0 1 0 0 TBC1D3P5 440419 broad.mit.edu 37 17 25749187 25749187 + RNA SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr17:25749187G>A ENST00000586223.1 + 0 1088 NR_033892.1 GAGTGTATAAGGGCATTCCCA 0.498000 7 25 0 0 1 0 0 KIAA0368 23392 broad.mit.edu 37 9 114173351 114173351 + Missense_Mutation SNP T T G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr9:114173351T>G ENST00000259335.4 - 23 2819 c.2820A>C c.(2818-2820)aaA>aaC p.K940N KIAA0368_ENST00000338205.5_Missense_Mutation_p.K762N NM_001080398.1 NP_001073867.1 KIAA0368 NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 ACATTCTCATTTTCTTTTTAG 0.418000 199 180 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74019475 74019475 + Silent SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr17:74019475C>T ENST00000301607.3 - 4 631 c.378G>A c.(376-378)gtG>gtA p.V126V EVPL_ENST00000586740.1_Silent_p.V126V NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 126 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 ACTCCTGGGTCACCCGCTCGT 0.672000 38 54 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 119065052 119065052 + Nonsense_Mutation SNP C C A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr9:119065052C>A ENST00000328252.3 + 10 3339 c.2970C>A c.(2968-2970)tgC>tgA p.C990* RP11-45A16.4_ENST00000451100.1_RNA|PAPPA_ENST00000534838.1_Nonsense_Mutation_p.C28* NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 990 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 CCAGCCGGTGCTATTTCCATG 0.458000 21 59 2.70639e-06 2.86354e-06 1 1 0 KCNJ2 3759 broad.mit.edu 37 17 68171810 68171810 + Silent SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr17:68171810G>A ENST00000243457.3 + 2 1013 c.630G>A c.(628-630)ttG>ttA p.L210L KCNJ2_ENST00000535240.1_Silent_p.L210L NM_000891.2 NP_000882.1 P63252 IRK2_HUMAN potassium inwardly-rectifying channel, subfamily J, member 2 210 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1) 25 Breast(10;1.64e-08) AGCTGTGTTTGATGTGGCGAG 0.498000 29 62 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7231221 7231221 + Silent SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr6:7231221G>A ENST00000379938.2 + 10 3426 c.2889G>A c.(2887-2889)gcG>gcA p.A963A RREB1_ENST00000334984.6_Silent_p.A963A|RREB1_ENST00000379933.3_Silent_p.A963A|RREB1_ENST00000349384.6_Silent_p.A963A NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 963 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) AGGAGGAGGCGGGGAGCAGCG 0.632000 12 4 0 0 1 0 0 FAF2 23197 broad.mit.edu 37 5 175913467 175913467 + Missense_Mutation SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr5:175913467G>A ENST00000261942.6 + 3 297 c.244G>A c.(244-246)Gtt>Att p.V82I FAF2_ENST00000510446.1_3'UTR NM_014613.2 NP_055428.1 Q96CS3 FAF2_HUMAN Fas associated factor family member 2 82 response to unfolded protein endoplasmic reticulum|lipid particle protein binding breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 10 CTACAGCTATGTTGTCTCAAG 0.443000 37 53 0 0 1 0 0 CDH3 1001 broad.mit.edu 37 16 68729736 68729736 + Silent SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr16:68729736C>T ENST00000264012.4 + 15 2734 c.2190C>T c.(2188-2190)ctC>ctT p.L730L CDH3_ENST00000581171.1_Silent_p.L675L|CDH3_ENST00000429102.2_Silent_p.L730L NM_001793.4 NP_001784.2 P22223 CADH3_HUMAN cadherin 3, type 1, P-cadherin (placental) 730 adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(2) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) AGGTGGTTCTCCGCAATGACG 0.582000 48 56 0 0 1 0 0 CHST14 113189 broad.mit.edu 37 15 40763950 40763950 + Missense_Mutation SNP C C A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr15:40763950C>A ENST00000306243.5 + 1 791 c.538C>A c.(538-540)Ctc>Atc p.L180I CHST14_ENST00000559991.1_Missense_Mutation_p.L155I NM_130468.3 NP_569735.1 Q8NCH0 CHSTE_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 180 carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding cervix(1)|large_intestine(1)|prostate(2) 4 all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781) GGACGTCCGCCTCAAGATGGA 0.602000 26 42 4.59853e-10 4.99443e-10 1 1 0 RRAS2 22800 broad.mit.edu 37 11 14316390 14316390 + Missense_Mutation SNP T T A rs113954997 TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr11:14316390T>A ENST00000545643.1 - 3 546 c.233A>T c.(232-234)cAa>cTa p.Q78L RRAS2_ENST00000529237.1_5'UTR|RRAS2_ENST00000537760.1_Missense_Mutation_p.Q37L|RRAS2_ENST00000534746.1_5'UTR|RRAS2_ENST00000526063.1_5'UTR|RRAS2_ENST00000532814.1_5'UTR|RRAS2_ENST00000256196.4_Missense_Mutation_p.Q72L|RRAS2_ENST00000414023.2_5'UTR NM_012250.5 NP_036382.2 P62070 RRAS2_HUMAN related RAS viral (r-ras) oncogene homolog 2 72 endoplasmic reticulum|plasma membrane GTP binding|GTPase activity|protein binding p.Q72L(2) breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 12 Epithelial(150;0.203) AAACTCTTCTTGTCCTGCTGT 0.393000 37 38 0 0 1 0 0 SLC5A5 6528 broad.mit.edu 37 19 18001748 18001748 + Missense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr19:18001748C>T ENST00000222248.3 + 14 2052 c.1705C>T c.(1705-1707)Cgg>Tgg p.R569W NM_000453.2 NP_000444.1 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium/iodide cotransporter), member 5 569 cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity p.R569W(1) NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 GGACCTCGCACGGCAGACAGC 0.602000 44 92 0 0 1 0 0 RNF24 11237 broad.mit.edu 37 20 3914726 3914726 + Missense_Mutation SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr20:3914726G>A ENST00000336095.5 - 6 682 c.431C>T c.(430-432)gCa>gTa p.A144V RNF24_ENST00000432261.2_Missense_Mutation_p.A165V|RNF24_ENST00000358395.6_Missense_Mutation_p.A144V|RNF24_ENST00000545616.1_Missense_Mutation_p.A165V NM_007219.3 NP_009150.1 Q9Y225 RNF24_HUMAN ring finger protein 24 144 Golgi membrane|integral to membrane zinc ion binding large_intestine(1)|upper_aerodigestive_tract(1) 2 AATGTTCTCTGCCCCAGGAAG 0.562000 55 88 0 0 1 0 0 SKIL 6498 broad.mit.edu 37 3 170102443 170102443 + Missense_Mutation SNP A A G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr3:170102443A>G ENST00000458537.3 + 3 2028 c.1319A>G c.(1318-1320)aAg>aGg p.K440R SKIL_ENST00000259119.4_Missense_Mutation_p.K440R|SKIL_ENST00000426052.2_Missense_Mutation_p.K420R|SKIL_ENST00000413427.2_Intron NM_001145097.2|NM_001248008.1|NM_005414.4 NP_001138569.1|NP_001234937.1|NP_005405.2 P12757 SKIL_HUMAN SKI-like oncogene 440 cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development cytoplasm|PML body chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 25 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) CAGTCAGAGAAGGCTCACAGT 0.398000 52 426 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121228628 121228628 + Missense_Mutation SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr8:121228628G>A ENST00000297848.3 + 14 1906 c.1636G>A c.(1636-1638)Gtt>Att p.V546I COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.V546I|COL14A1_ENST00000247781.3_Missense_Mutation_p.V451I NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 546 Fibronectin type-III 4. 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) AATCTCCAATGTTGGCTCTAA 0.353000 57 80 0 0 1 0 0 FOXP4 116113 broad.mit.edu 37 6 41557787 41557787 + Silent SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr6:41557787G>A ENST00000373060.1 + 11 1694 c.1236G>A c.(1234-1236)ccG>ccA p.P412P FOXP4_ENST00000307972.4_Silent_p.P412P|FOXP4_ENST00000373057.3_Silent_p.P410P|FOXP4_ENST00000373063.3_Silent_p.P399P|FOXP4_ENST00000409208.1_Silent_p.P400P NM_001012426.1|NM_001012427.1 NP_001012426.1|NP_001012427.1 Q8IVH2 FOXP4_HUMAN forkhead box P4 412 embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 16 Ovarian(28;0.0327)|Colorectal(47;0.196) TGCACCCCCCGACCTCGGCCG 0.672000 4 48 0 0 1 0 0 RASA3 22821 broad.mit.edu 37 13 114758033 114758033 + Missense_Mutation SNP C C G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr13:114758033C>G ENST00000334062.7 - 22 2294 c.2173G>C c.(2173-2175)Gat>Cat p.D725H RASA3_ENST00000389544.4_Missense_Mutation_p.D693H NM_007368.2 NP_031394.2 Q14644 RASA3_HUMAN RAS p21 protein activator 3 725 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) CGGTCCCCATCAATGTCCAGC 0.483000 17 29 0 0 1 0 0 APLF 200558 broad.mit.edu 37 2 68772422 68772422 + Missense_Mutation SNP C C G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr2:68772422C>G ENST00000303795.4 + 8 1435 c.1264C>G c.(1264-1266)Ccc>Gcc p.P422A APLF_ENST00000471727.1_3'UTR NM_173545.2 NP_775816.1 Q8IW19 APLF_HUMAN aprataxin and PNKP like factor 422 double-strand break repair|single strand break repair cytosol|nucleus 3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 GCCTGAATGTCCCTATGGACC 0.423000 38 95 0 0 1 0 0 TKTL2 84076 broad.mit.edu 37 4 164393621 164393621 + Silent SNP C C G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr4:164393621C>G ENST00000280605.3 - 1 1426 c.1266G>C c.(1264-1266)ggG>ggC p.G422G NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 422 cytoplasm metal ion binding|transketolase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CAGTGGATACCCCACAGTGGG 0.478000 36 21 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49420628 49420628 + Missense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr12:49420628C>T ENST00000301067.7 - 48 15120 c.15121G>A c.(15121-15123)Ggg>Agg p.G5041R NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TCAGTGGCCCCGTCACCCTCC 0.607000 31 89 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13876803 13876803 + Missense_Mutation SNP G G T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr5:13876803G>T ENST00000265104.4 - 22 3490 c.3386C>A c.(3385-3387)tCc>tAc p.S1129Y CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1129 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTTTTTGGTGGAGTTGATAAT 0.383000 Kartagener syndrome 38 66 1.57019e-19 1.78828e-19 1 1 0 SIGLEC16 400709 broad.mit.edu 37 19 50475259 50475259 + RNA SNP G G C rs12463036 by1000genomes TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr19:50475259G>C ENST00000602139.1 + 0 1205 sialic acid binding Ig-like lectin 16 (gene/pseudogene) endometrium(2)|kidney(2)|lung(6) 10 TGGGGTCCTGGAGCTGCCTCG 0.672000 2 5 0 0 1 0 0 TMEM133 83935 broad.mit.edu 37 11 100863058 100863058 + Missense_Mutation SNP G G T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr11:100863058G>T ENST00000303130.2 + 1 248 c.19G>T c.(19-21)Gta>Tta p.V7L NM_032021.2 NP_114410.1 Q9H2Q1 TM133_HUMAN transmembrane protein 133 7 integral to membrane kidney(2)|large_intestine(1)|lung(1)|prostate(1) 5 Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014) BRCA - Breast invasive adenocarcinoma(274;0.0675) ACATCACTGCGTAGGACCCGG 0.428000 33 53 9.65021e-13 1.07662e-12 1 1 0 IGHMBP2 3508 broad.mit.edu 37 11 68696742 68696742 + Silent SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr11:68696742C>T ENST00000255078.3 + 8 1263 c.1152C>T c.(1150-1152)agC>agT p.S384S NM_002180.2 NP_002171.2 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 384 Leu-rich. cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TCGAGGCGAGCTGCTGGATCC 0.622000 41 100 0 0 1 0 0 PHACTR3 116154 broad.mit.edu 37 20 58349395 58349395 + Missense_Mutation SNP G G C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr20:58349395G>C ENST00000371015.1 + 7 1491 c.1024G>C c.(1024-1026)Gct>Cct p.A342P PHACTR3_ENST00000541461.1_Missense_Mutation_p.A301P|PHACTR3_ENST00000361300.4_Missense_Mutation_p.A231P|PHACTR3_ENST00000355648.4_Missense_Mutation_p.A301P|PHACTR3_ENST00000395636.2_Missense_Mutation_p.A301P|PHACTR3_ENST00000395639.4_Missense_Mutation_p.A231P|PHACTR3_ENST00000359926.3_Missense_Mutation_p.A339P NM_080672.3 NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 342 nuclear matrix actin binding|protein phosphatase inhibitor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) GAGGGAGGAGGCTTGGAGCTT 0.512000 37 70 0 0 1 0 0 MAP3K1 4214 broad.mit.edu 37 5 56167806 56167806 + Silent SNP A A T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr5:56167806A>T ENST00000399503.3 + 7 1371 c.1371A>T c.(1369-1371)acA>acT p.T457T NM_005921.1 NP_005912.1 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase 457 cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1) 57 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) AAAGTCTTACAGTGTGTGAAG 0.428000 34 29 0 0 1 0 0 TCFL5 10732 broad.mit.edu 37 20 61488812 61488812 + Silent SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr20:61488812C>T ENST00000335351.3 - 4 1265 c.1173G>A c.(1171-1173)caG>caA p.Q391Q TCFL5_ENST00000217162.5_Silent_p.Q343Q NM_006602.2 NP_006593.2 Q9UL49 TCFL5_HUMAN transcription factor-like 5 (basic helix-loop-helix) 391 cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1) 9 Breast(26;5.68e-08) GGGGCCCACTCTGGGCCTGCT 0.572000 137 40 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129146962 129146962 + Missense_Mutation SNP C C T rs141901231 byFrequency TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chrX:129146962C>T ENST00000540052.1 + 3 258 c.214C>T c.(214-216)Cgg>Tgg p.R72W BCORL1_ENST00000488135.1_3'UTR|BCORL1_ENST00000218147.7_Missense_Mutation_p.R72W|BCORL1_ENST00000359304.2_Missense_Mutation_p.R72W|BCORL1_ENST00000303743.5_Missense_Mutation_p.R72W NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 72 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 CAGCAATGCCCGGGGGGCAGA 0.567000 6 99 0 0 1 0 0 MKRN3 7681 broad.mit.edu 37 15 23811475 23811475 + Silent SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr15:23811475C>T ENST00000314520.3 + 1 1022 c.546C>T c.(544-546)gcC>gcT p.A182A MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 182 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) TCTTTGAAGCCGAGAGAGACA 0.617000 23 30 0 0 1 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125856801 125856801 + Missense_Mutation SNP A A T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr3:125856801A>T ENST00000393434.2 - 10 1428 c.1079T>A c.(1078-1080)cTg>cAg p.L360Q ALDH1L1_ENST00000472186.1_Missense_Mutation_p.L360Q|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.L360Q|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.L259Q|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.L370Q NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 360 Acyl carrier. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) TTCCTCCACCAGCCTGGAGGA 0.567000 34 24 0 0 1 0 0 SUGT1 10910 broad.mit.edu 37 13 53233376 53233376 + Missense_Mutation SNP A A G rs12875900 TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr13:53233376A>G ENST00000535397.1 + 6 525 c.152A>G c.(151-153)aAa>aGa p.K51R SUGT1_ENST00000483074.1_3'UTR|SUGT1_ENST00000310528.7_Missense_Mutation_p.K107R|SUGT1_ENST00000343788.6_Missense_Mutation_p.K107R Q9Y2Z0 SUGT1_HUMAN SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) 107 mitosis kinetochore|ubiquitin ligase complex binding kidney(3)|large_intestine(3)|lung(2) 8 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.25e-08) GAAGGACAAAAATTAGATAGT 0.249000 17 23 0 0 1 0 0 LOC440040 440040 broad.mit.edu 37 11 49598207 49598207 + RNA SNP T T C rs71479502 by1000genomes TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr11:49598207T>C ENST00000527477.1 + 0 811 TCCTCTTCCTTCTGCTCCAAG 0.502000 3 30 0 0 1 0 0 MCAM 4162 broad.mit.edu 37 11 119181165 119181165 + Missense_Mutation SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr11:119181165G>A ENST00000264036.4 - 15 1819 c.1805C>T c.(1804-1806)cCg>cTg p.P602L MCAM_ENST00000392814.1_3'UTR NM_006500.2 NP_006491.2 P43121 MUC18_HUMAN melanoma cell adhesion molecule 602 anatomical structure morphogenesis|cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1) 22 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) CTTACGAGACGGGGGTAGCGT 0.587000 58 99 0 0 1 0 0 TRBV6-9 28598 broad.mit.edu 37 7 142104314 142104314 + RNA SNP A A T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr7:142104314A>T ENST00000390379.1 - 0 150 TACCAGGACAAGTATCCATGG 0.512000 84 100 0 0 1 0 0 WSCD2 9671 broad.mit.edu 37 12 108634152 108634152 + Silent SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr12:108634152C>T ENST00000332082.4 + 9 1994 c.1176C>T c.(1174-1176)agC>agT p.S392S WSCD2_ENST00000549903.1_Silent_p.S392S|WSCD2_ENST00000547525.1_Silent_p.S392S|WSCD2_ENST00000261400.3_Silent_p.S392S Q2TBF2 WSCD2_HUMAN WSC domain containing 2 392 integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 ACTGGCGCAGCGGACGGACCA 0.607000 148 54 0 0 1 0 0 NXF3 56000 broad.mit.edu 37 X 102337236 102337236 + Missense_Mutation SNP A A C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chrX:102337236A>C ENST00000395065.3 - 9 938 c.837T>G c.(835-837)tgT>tgG p.C279W NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.C190W NM_022052.1 NP_071335.1 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 279 cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 TTCTGTCCGCACACTTCTCTC 0.532000 8 109 0 0 1 0 0 PEX5L 51555 broad.mit.edu 37 3 179592166 179592166 + Missense_Mutation SNP G G C rs139208096 TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr3:179592166G>C ENST00000467460.1 - 7 1005 c.675C>G c.(673-675)agC>agG p.S225R PEX5L_ENST00000465751.1_Missense_Mutation_p.S201R|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000464614.1_Missense_Mutation_p.S117R|PEX5L_ENST00000392649.3_Missense_Mutation_p.S117R|PEX5L_ENST00000263962.8_Missense_Mutation_p.S223R|PEX5L_ENST00000485199.1_Missense_Mutation_p.S190R|PEX5L_ENST00000476138.1_Missense_Mutation_p.S182R|PEX5L_ENST00000472994.1_Missense_Mutation_p.S166R|PEX5L_ENST00000468741.1_Missense_Mutation_p.S33R NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 225 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) AGTTGAGGGCGCTTTTTCCAC 0.393000 43 165 0 0 1 0 0 MAST1 22983 broad.mit.edu 37 19 12975624 12975624 + Splice_Site SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr19:12975624C>T ENST00000251472.4 + 13 1407 c.1366_splice c.e13-1 p.G456_splice NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 456 Protein kinase. cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 GGCCTGCAGGCGGCGACTGTG 0.537000 21 45 0 0 1 0 0 CDR2L 30850 broad.mit.edu 37 17 72998278 72998278 + Missense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr17:72998278C>T ENST00000337231.5 + 4 873 c.461C>T c.(460-462)aCc>aTc p.T154I NM_014603.2 NP_055418.2 Q86X02 CDR2L_HUMAN cerebellar degeneration-related protein 2-like 154 all_lung(278;0.226) CGCAGGCGTACCATCCACACC 0.647000 4 13 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139277978 139277978 + Missense_Mutation SNP A A G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr8:139277978A>G ENST00000395297.1 - 4 435 c.265T>C c.(265-267)Ttc>Ctc p.F89L NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 89 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TGAACTCGGAAGACCACAGCA 0.488000 HNSCC(54;0.14) 19 47 0 0 1 0 0 AGBL5 60509 broad.mit.edu 37 2 27276859 27276859 + Nonsense_Mutation SNP C C A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr2:27276859C>A ENST00000360131.4 + 4 642 c.483C>A c.(481-483)taC>taA p.Y161* AGBL5_ENST00000323064.8_Nonsense_Mutation_p.Y161*|RP11-503P10.1_ENST00000607407.1_RNA NM_021831.5 NP_068603.4 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 161 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 28 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCTTCTCCTACAGTGACTGCC 0.552000 87 138 1.02218e-41 1.19741e-41 1 1 0 SAP130 79595 broad.mit.edu 37 2 128775458 128775458 + Silent SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr2:128775458G>A ENST00000357702.5 - 3 353 c.222C>T c.(220-222)gtC>gtT p.V74V SAP130_ENST00000259234.6_Silent_p.V48V|SAP130_ENST00000259235.3_Silent_p.V74V NM_001145928.1 NP_001139400.1 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa 74 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 45 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) CCCTGGCACTGACTTCAGAAT 0.498000 31 52 0 0 1 0 0 LIPC 3990 broad.mit.edu 37 15 58834054 58834054 + Missense_Mutation SNP T T C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr15:58834054T>C ENST00000414170.3 + 4 631 c.344T>C c.(343-345)gTg>gCg p.V115A LIPC_ENST00000299022.5_Missense_Mutation_p.V115A|LIPC_ENST00000433326.2_Intron|LIPC_ENST00000356113.6_Missense_Mutation_p.V115A P11150 LIPC_HUMAN lipase, hepatic 115 cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) GCCCAGCCAGTGAACGTGGGG 0.652000 14 11 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10369589 10369589 + Splice_Site SNP C C A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr17:10369589C>A ENST00000255381.2 - 4 459 c.e4+1 CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.?(1) 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 AGGGTGCTCACGTAGATCATC 0.433000 55 99 4.88482e-21 5.60218e-21 1 1 0 PAFAH2 5051 broad.mit.edu 37 1 26301058 26301058 + Missense_Mutation SNP T T G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr1:26301058T>G ENST00000374282.3 - 9 1021 c.842A>C c.(841-843)aAt>aCt p.N281T PAFAH2_ENST00000374284.1_Missense_Mutation_p.N281T NM_000437.3 NP_000428.2 Q99487 PAFA2_HUMAN platelet-activating factor acetylhydrolase 2, 40kDa 281 lipid catabolic process cytoplasm 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1) 9 Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649) TTTCTCAGTATTGATAAAGAA 0.468000 24 28 0 0 1 0 0 FBXO31 79791 broad.mit.edu 37 16 87376494 87376494 + Missense_Mutation SNP C C A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr16:87376494C>A ENST00000311635.7 - 5 733 c.721G>T c.(721-723)Ggg>Tgg p.G241W NM_024735.3 NP_079011.3 Q5XUX0 FBX31_HUMAN F-box protein 31 241 cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process SCF ubiquitin ligase complex cyclin binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0272) TCCTGCCTCCCGCCGGACATC 0.557000 10 5 2.17888e-05 2.27602e-05 1 1 0 SLC7A2 6542 broad.mit.edu 37 8 17407860 17407860 + Missense_Mutation SNP T T C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr8:17407860T>C ENST00000470360.1 + 7 986 c.869T>C c.(868-870)aTg>aCg p.M290T SLC7A2_ENST00000004531.10_Missense_Mutation_p.M290T|SLC7A2_ENST00000522656.1_Missense_Mutation_p.M250T|SLC7A2_ENST00000398090.3_Missense_Mutation_p.M290T|SLC7A2_ENST00000494857.1_Missense_Mutation_p.M250T P52569 CTR2_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 250 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) GGTGGCTTTATGCCTTATGGC 0.448000 31 10 0 0 1 0 0 CLEC16A 23274 broad.mit.edu 37 16 11097000 11097000 + Missense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr16:11097000C>T ENST00000409790.1 + 11 1371 c.1141C>T c.(1141-1143)Cac>Tac p.H381Y CLEC16A_ENST00000409552.3_Missense_Mutation_p.H379Y NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 381 breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 GATGAACAAGCACAAGGGCAA 0.537000 15 35 0 0 1 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142479940 142479940 + RNA SNP C C T rs58649169 by1000genomes TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr7:142479940C>T ENST00000603901.1 + 0 72 NR_001296.3 ATGACAAGATCGTTGGGGGCT 0.557000 4 60 0 0 1 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140735600 140735600 + Missense_Mutation SNP C C A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr5:140735600C>A ENST00000571252.1 + 1 833 c.833C>A c.(832-834)aCg>aAg p.T278K PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGACGTGACGTATTCTTTC 0.458000 4 32 0.014758 0.0148485 1 1 0 CCDC39 339829 broad.mit.edu 37 3 180397180 180397180 + Translation_Start_Site SNP G G C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr3:180397180G>C ENST00000442201.2 - 0 108 CCDC39_ENST00000273654.4_Intron NM_181426.1 NP_852091.1 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 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) ACTGCAAACGGATAGAGAAGA 0.582000 45 450 0 0 1 0 0 RECQL 5965 broad.mit.edu 37 12 21630754 21630754 + Missense_Mutation SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr12:21630754G>A ENST00000444129.2 - 7 1318 c.850C>T c.(850-852)Cca>Tca p.P284S RECQL_ENST00000421138.2_Missense_Mutation_p.P284S NM_002907.3|NM_032941.2 NP_002898.2|NP_116559.1 P46063 RECQ1_HUMAN RecQ protein-like (DNA helicase Q1-like) 284 DNA recombination|DNA repair|DNA replication nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 17 TATAGATTTGGCCTATTAAAA 0.328000 Other identified genes with known or suspected DNA repair function 24 73 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78225481 78225481 + Missense_Mutation SNP C C A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr12:78225481C>A ENST00000397909.2 + 1 413 c.240C>A c.(238-240)agC>agA p.S80R NAV3_ENST00000536525.2_Missense_Mutation_p.S80R|NAV3_ENST00000266692.7_Missense_Mutation_p.S80R|NAV3_ENST00000228327.6_Missense_Mutation_p.S80R Q8IVL0 NAV3_HUMAN neuron navigator 3 80 CH. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity p.S80R(1) NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 AAGAAGACAGCAAGGTTAGTT 0.413000 HNSCC(70;0.22) 61 24 3.36121e-32 3.90949e-32 1 1 0 CNTNAP4 85445 broad.mit.edu 37 16 76555134 76555134 + Silent SNP T T C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr16:76555134T>C ENST00000307431.8 + 17 2845 c.2460T>C c.(2458-2460)ttT>ttC p.F820F CNTNAP4_ENST00000478060.1_Silent_p.F748F|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.F772F|CNTNAP4_ENST00000476707.1_Silent_p.F824F NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 821 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 CTTTCTTTTTTAAGACAACAG 0.408000 79 249 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114277023 114277023 + Missense_Mutation SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr4:114277023G>A ENST00000357077.4 + 38 7302 c.7249G>A c.(7249-7251)Gat>Aat p.D2417N ANK2_ENST00000264366.6_Missense_Mutation_p.D2384N|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2384 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) CCCTAGCCGAGATAGCGAAGT 0.498000 26 17 0 0 1 0 0 SCAI 286205 broad.mit.edu 37 9 127715225 127715225 + Missense_Mutation SNP C C T TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr9:127715225C>T ENST00000336505.5 - 18 1740 c.1682G>A c.(1681-1683)cGa>cAa p.R561Q SCAI_ENST00000373549.4_Missense_Mutation_p.R584Q NM_001144877.2 NP_001138349.1 Q8N9R8 SCAI_HUMAN suppressor of cancer cell invasion 561 negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|integral to membrane|nucleus protein binding|transcription corepressor activity p.R584Q(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1) 35 TGGATAATTTCGTGTTTCCTG 0.358000 43 43 0 0 1 0 0 GLIS3 169792 broad.mit.edu 37 9 4117821 4117821 + Missense_Mutation SNP T T C TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr9:4117821T>C ENST00000324333.10 - 3 1385 c.1192A>G c.(1192-1194)Aaa>Gaa p.K398E GLIS3_ENST00000381971.3_Missense_Mutation_p.K553E NM_152629.3 NP_689842.3 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 398 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) ATCAGCAGTTTATAGCGGGCG 0.567000 70 31 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33614263 33614282 + Frame_Shift_Del DEL AGCTGTGTAACATCCCCGTG AGCTGTGTAACATCCCCGTG - rs146752637 TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr2:33614263_33614282delAGCTGTGTAACATCCCCGTG ENST00000404816.2 + 32 5077_5096 c.4724_4743delAGCTGTGTAACATCCCCGTG c.(4723-4743)cfs p.QLCNIPV1575fs LTBP1_ENST00000272273.5_Frame_Shift_Del_p.QLCNIPV473fs|LTBP1_ENST00000404525.1_Frame_Shift_Del_p.QLCNIPV1196fs|LTBP1_ENST00000402934.1_Frame_Shift_Del_p.QLCNIPV1194fs|LTBP1_ENST00000354476.3_Frame_Shift_Del_p.QLCNIPV1576fs|LTBP1_ENST00000390003.4_Frame_Shift_Del_p.QLCNIPV1250fs|LTBP1_ENST00000407925.1_Frame_Shift_Del_p.QLCNIPV1249fs|LTBP1_ENST00000418533.2_Frame_Shift_Del_p.QLCNIPV1207fs Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1575 TB 4. negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GACTATGCTCAGCTGTGTAACATCCCCGTGACGGGACGCC 0.564 23 102 --- --- --- --- PHC3 80012 broad.mit.edu 37 3 169896635 169896637 + In_Frame_Del DEL TGG TGG - TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr3:169896635_169896637delTGG ENST00000494943.1 - 2 136_138 c.68_70delCCA c.(67-72)atc>a p.TI23del PHC3_ENST00000481639.1_In_Frame_Del_p.TI35del|PHC3_ENST00000497658.1_In_Frame_Del_p.TI35del|PHC3_ENST00000474275.1_In_Frame_Del_p.TI23del|PHC3_ENST00000467570.1_In_Frame_Del_p.TI35del|PHC3_ENST00000495893.1_In_Frame_Del_p.TI35del Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 23 Poly-Thr. 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) GAAgtggtgatggtggtggtggt 0.493 11 855 --- --- --- --- UGT2B7 7364 broad.mit.edu 37 4 69962284 69962290 + Frame_Shift_Del DEL TTTTGCT TTTTGCT - TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr4:69962284_69962290delTTTTGCT ENST00000305231.7 + 1 92_98 c.46_52delTTTTGCT c.(46-54)ttfs p.FCF16fs UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Frame_Shift_Del_p.FCF16fs NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 16 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 ACAACTGAGCTTTTGCTTTAGCTCTGG 0.420 105 196 --- --- --- --- CTD-2296D1.4 0 broad.mit.edu 37 5 7373015 7373015 + RNA DEL T T - TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr5:7373015delT ENST00000513219.1 - 0 172 CTGATTGGTCTTCATCCAACA 0.458 2 4 --- --- --- --- CNTNAP3B 728577 broad.mit.edu 37 9 43844265 43844265 + Frame_Shift_Del DEL G G - TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr9:43844265delG ENST00000377564.3 + 10 1992 c.1599delG c.(1597-1599)gcfs p.A533fs NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 533 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 AGCAGGGGGCGCTGGGGAGTT 0.542 7 9 --- --- --- --- CCNT1 904 broad.mit.edu 37 12 49087434 49087436 + In_Frame_Del DEL ATG ATG - TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr12:49087434_49087436delATG ENST00000261900.3 - 9 1783_1785 c.1561_1563delCAT c.(1561-1563)del p.H521del NM_001240.3 NP_001231.2 O60563 CCNT1_HUMAN cyclin T1 521 His-rich. cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 AGTGGTGATTATGATGATGATGA 0.443 7 528 --- --- --- --- CALB2 794 broad.mit.edu 37 16 71423757 71423757 + Frame_Shift_Del DEL C C - TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr16:71423757delC ENST00000302628.4 + 11 882 c.805delC c.(805-807)ccfs p.P270fs CALB2_ENST00000349553.5_3'UTR NM_001740.4 NP_001731.2 P22676 CALB2_HUMAN calbindin 2 270 EF-hand 6. calcium ion binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(137;0.125) CTGCAGCGAGCCCCCCATGTA 0.587 50 135 --- --- --- --- ZNF791 163049 broad.mit.edu 37 19 12735473 12735473 + Frame_Shift_Del DEL G G - TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chr19:12735473delG ENST00000343325.4 + 3 302 c.140delG c.(139-141)tgfs p.W47fs ZNF791_ENST00000446165.1_Intron|ZNF791_ENST00000540038.1_5'UTR|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Frame_Shift_Del_p.W15fs NM_153358.2 NP_699189.2 Q3KP31 ZN791_HUMAN zinc finger protein 791 47 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3) 19 GGGGAAAAATGGGAAGACCCG 0.318 26 15 --- --- --- --- GAGE2D 729408 broad.mit.edu 37 X 49208295 49208296 + In_Frame_Ins INS - - TAT TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 9c201383-26e2-4f85-b60e-8142f545c2e3 g.chrX:49208295_49208296insTAT ENST00000404720.2 + 2 96_97 c.24_25insTAT c.(22-27)acatcg>acTATatcg p.8_9TS>TIS NM_001098407.1|NM_012196.1 NP_001091877.1|NP_036328.1 G antigen 2D GAAGATCGACCTATCGGCCTAG 0.465 11 21 --- --- --- --- LTBP1 4052 broad.mit.edu 37 2 33614263 33614282 + Frame_Shift_Del DEL AGCTGTGTAACATCCCCGTG AGCTGTGTAACATCCCCGTG - rs146752637 TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr2:33614263_33614282delAGCTGTGTAACATCCCCGTG ENST00000404816.2 + 32 5077_5096 c.4724_4743delAGCTGTGTAACATCCCCGTG c.(4723-4743)cfs p.QLCNIPV1575fs LTBP1_ENST00000402934.1_Frame_Shift_Del_p.QLCNIPV1194fs|LTBP1_ENST00000404525.1_Frame_Shift_Del_p.QLCNIPV1196fs|LTBP1_ENST00000407925.1_Frame_Shift_Del_p.QLCNIPV1249fs|LTBP1_ENST00000272273.5_Frame_Shift_Del_p.QLCNIPV473fs|LTBP1_ENST00000418533.2_Frame_Shift_Del_p.QLCNIPV1207fs|LTBP1_ENST00000390003.4_Frame_Shift_Del_p.QLCNIPV1250fs|LTBP1_ENST00000354476.3_Frame_Shift_Del_p.QLCNIPV1576fs Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1575 TB 4. negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GACTATGCTCAGCTGTGTAACATCCCCGTGACGGGACGCC 0.564 23 102 --- --- --- --- SMC4 10051 broad.mit.edu 37 3 160143939 160143940 + Frame_Shift_Ins INS - - A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr3:160143939_160143940insA ENST00000357388.3 + 17 3007_3008 c.2556_2557insA c.(2554-2559)gaaaaafs p.EK852fs SMC4_ENST00000360111.2_Frame_Shift_Ins_p.EK852fs|SMC4_ENST00000344722.5_Frame_Shift_Ins_p.EK852fs|SMC4_ENST00000469762.1_Frame_Shift_Ins_p.EK827fs|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Frame_Shift_Ins_p.EK852fs NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 852 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) CAGCCCCTGACAAAAAAAAGCA 0.322 7 901 --- --- --- --- UGT2B7 7364 broad.mit.edu 37 4 69962284 69962290 + Frame_Shift_Del DEL TTTTGCT TTTTGCT - TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr4:69962284_69962290delTTTTGCT ENST00000305231.7 + 1 92_98 c.46_52delTTTTGCT c.(46-54)ttfs p.FCF16fs UGT2B7_ENST00000508661.1_Frame_Shift_Del_p.FCF16fs|UGT2B7_ENST00000509763.1_Intron NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 16 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 ACAACTGAGCTTTTGCTTTAGCTCTGG 0.420 105 196 --- --- --- --- CTD-2296D1.4 0 broad.mit.edu 37 5 7373015 7373015 + RNA DEL T T - TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr5:7373015delT ENST00000513219.1 - 0 172 CTGATTGGTCTTCATCCAACA 0.458 2 4 --- --- --- --- BHLHE22 27319 broad.mit.edu 37 8 65494017 65494018 + In_Frame_Ins INS - - GCA TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr8:65494017_65494018insGCA ENST00000321870.1 + 1 1204_1205 c.670_671insGCA c.(670-672)cgg>GCAcgg p.223_224insA RP11-21C4.1_ENST00000517909.1_RNA NM_152414.4 NP_689627.1 Q8NFJ8 BHE22_HUMAN basic helix-loop-helix family, member e22 223 Gly-rich.|Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 5 tagcggcagcggcggcagcagc 0.723 4 5 --- --- --- --- KRTAP5-2 440021 broad.mit.edu 37 11 1619173 1619202 + In_Frame_Del DEL CCCCCACAGGAGCCACAGCCCCCCTTGGAG CCCCCACAGGAGCCACAGCCCCCCTTGGAG - rs61869706 by1000genomes TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG ENST00000412090.1 - 1 322_351 c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG c.(277-309)ggt>gg p.GSKGGCGSCGG93del KRTAP5-AS1_ENST00000424148.1_RNA NM_001004325.1 NP_001004325.1 Q701N4 KRA52_HUMAN keratin associated protein 5-2 93 6 X 4 AA repeats of C-C-X-P. keratin filament large_intestine(1)|lung(2)|skin(1) 4 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCCCTTGGAACCCCCACAGGAGCCACAGCCCCCCTTGGAGCCCCCACAGG 0.657 9 110 --- --- --- --- MESP2 145873 broad.mit.edu 37 15 90320121 90320144 + In_Frame_Del DEL AGGGGCAGGGGCAAGGGCAGGGGC AGGGGCAGGGGCAAGGGCAGGGGC - rs56192595 TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC ENST00000341735.3 + 1 533_556 c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC c.(532-558)gag>g p.EGQGQGQGQ178del MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron NM_001039958.1 NP_001035047.1 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog (mouse) 178 Notch signaling pathway nucleus DNA binding p.Q198_G205delQGQGQGQG(1) kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg 0.777 3 6 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 4 9 --- --- --- --- CALB2 794 broad.mit.edu 37 16 71423757 71423757 + Frame_Shift_Del DEL C C - TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr16:71423757delC ENST00000302628.4 + 11 882 c.805delC c.(805-807)ccfs p.P270fs CALB2_ENST00000349553.5_3'UTR NM_001740.4 NP_001731.2 P22676 CALB2_HUMAN calbindin 2 270 EF-hand 6. calcium ion binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(137;0.125) CTGCAGCGAGCCCCCCATGTA 0.587 50 135 --- --- --- --- ZNF791 163049 broad.mit.edu 37 19 12735473 12735473 + Frame_Shift_Del DEL G G - TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr19:12735473delG ENST00000343325.4 + 3 302 c.140delG c.(139-141)tgfs p.W47fs ZNF791_ENST00000446165.1_Intron|ZNF791_ENST00000458122.3_Frame_Shift_Del_p.W15fs|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_5'UTR NM_153358.2 NP_699189.2 Q3KP31 ZN791_HUMAN zinc finger protein 791 47 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3) 19 GGGGAAAAATGGGAAGACCCG 0.318 26 15 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20920814 20920816 + In_Frame_Del DEL CAG CAG - rs71769813 TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr22:20920814_20920816delCAG ENST00000263205.7 + 7 820_822 c.751_753delCAG c.(751-753)del p.Q262del MED15_ENST00000382974.2_In_Frame_Del_p.Q191del|MED15_ENST00000425759.2_In_Frame_Del_p.Q151del|MED15_ENST00000542773.1_In_Frame_Del_p.Q67del|MED15_ENST00000406969.1_In_Frame_Del_p.Q236del|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000292733.7_In_Frame_Del_p.Q262del|MED15_ENST00000541476.1_In_Frame_Del_p.Q236del NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 262 Poly-Gln. Missing. Missing (in Ref. 3; BAB85034). regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding p.Q250_Q251insQ(4) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) acaacagcaacagcagcagcagc 0.591 10 58 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610573 42610575 + In_Frame_Del DEL AGG AGG - TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chr22:42610573_42610575delAGG ENST00000359486.3 - 1 873_875 c.737_739delCCT c.(736-741)ttc>t p.SF246del TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 246 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GGTGAAGGGAaggaggaggagga 0.507 8 128 --- --- --- --- GAGE2D 729408 broad.mit.edu 37 X 49208295 49208296 + In_Frame_Ins INS - - TAT TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a4027f-4d4f-4133-b40a-3bfab6d2ac9e 268e0e78-73a5-43f9-a25f-cd862c4438bd g.chrX:49208295_49208296insTAT ENST00000404720.2 + 2 96_97 c.24_25insTAT c.(22-27)acatcg>acTATatcg p.8_9TS>TIS NM_001098407.1|NM_012196.1 NP_001091877.1|NP_036328.1 G antigen 2D GAAGATCGACCTATCGGCCTAG 0.465 11 21 --- --- --- ---