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 PLCH2 9651 broad.mit.edu 37 1 2435628 2435628 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr1:2435628C>T uc001aji.1 + 22 3501 c.3227C>T c.(3226-3228)ACG>ATG p.T1076M PLCH2_uc010nyz.1_3'UTR|PLCH2_uc009vle.1_Missense_Mutation_p.T828M|PLCH2_uc001ajj.1_3'UTR|PLCH2_uc001ajk.1_3'UTR|PLCH2_uc001ajl.1_Translation_Start_Site NM_014638 NP_055453 O75038 PLCH2_HUMAN phospholipase C, eta 2 1076 intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(3)|ovary(1)|skin(1) 5 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) GGCAGCCAGACGGACGGCAGG 0.731000 CAMTA1 23261 broad.mit.edu 37 1 7792608 7792608 + Silent SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr1:7792608C>T uc001aoi.2 + 12 3222 c.3015C>T c.(3013-3015)GGC>GGT p.G1005G CAMTA1_uc010nzv.1_Silent_p.G92G|CAMTA1_uc001aok.3_Silent_p.G48G NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 1005 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) CGAGCGGAGGCGGCAGCAGTG 0.612000 MASP2 10747 broad.mit.edu 37 1 11087139 11087139 + Nonsense_Mutation SNP C C A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr1:11087139C>A uc001aru.2 - 11 1885 c.1864G>T c.(1864-1866)GAA>TAA p.E622* NM_006610 NP_006601 O00187 MASP2_HUMAN mannan-binding lectin serine protease 2 isoform 622 Peptidase S1. complement activation, classical pathway|complement activation, lectin pathway|proteolysis extracellular region calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity ovary(2)|pancreas(1)|skin(1) 4 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.071) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) CCCCCACTTTCTAAGCCAGCA 0.493000 SFN 2810 broad.mit.edu 37 1 27189931 27189931 + Silent SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr1:27189931G>A uc001bnc.1 + 1 299 c.228G>A c.(226-228)GAG>GAA p.E76E uc010ofi.1_RNA NM_006142 NP_006133 P31947 1433S_HUMAN stratifin 76 DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria cytoplasm|extracellular space|nucleus protein domain specific binding|protein kinase C inhibitor activity 0 all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215) GCTCGGAGGAGAAGGGGCCCG 0.627000 CHRNB2 1141 broad.mit.edu 37 1 154544028 154544028 + Silent SNP C C A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr1:154544028C>A uc001ffg.2 + 5 993 c.729C>A c.(727-729)ATC>ATA p.I243I NM_000748 NP_000739 P17787 ACHB2_HUMAN neuronal nicotinic acetylcholine receptor beta 2 243 Helical; (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) Nicotine(DB00184) ACCTCATCATCCCCTGTGTGC 0.562000 ADAM15 8751 broad.mit.edu 37 1 155030414 155030414 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr1:155030414C>T uc001fgr.1 + 14 1605 c.1504C>T c.(1504-1506)CCT>TCT p.P502S ADAM15_uc001fgq.1_Missense_Mutation_p.P187S|ADAM15_uc010pet.1_Missense_Mutation_p.P486S|ADAM15_uc010peu.1_Missense_Mutation_p.P519S|ADAM15_uc001fgt.1_Missense_Mutation_p.P502S|ADAM15_uc010pev.1_Missense_Mutation_p.P512S|ADAM15_uc001fgs.1_Missense_Mutation_p.P502S|ADAM15_uc001fgu.1_Missense_Mutation_p.P502S|ADAM15_uc001fgw.1_Missense_Mutation_p.P502S|ADAM15_uc001fgv.1_Missense_Mutation_p.P502S|ADAM15_uc001fgx.1_Missense_Mutation_p.P502S|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_5'Flank NM_207197 NP_997080 Q13444 ADA15_HUMAN a disintegrin and metalloproteinase domain 15 502 Disintegrin.|Extracellular (Potential). angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding central_nervous_system(3)|skin(2)|ovary(1) 6 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) CCAGTGTCCCCCTGATGTCAG 0.637000 C1orf25 81627 broad.mit.edu 37 1 185109148 185109148 + Missense_Mutation SNP T T C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr1:185109148T>C uc001grf.3 - 8 1338 c.1066A>G c.(1066-1068)ATG>GTG p.M356V C1orf25_uc010pon.1_Missense_Mutation_p.M200V NM_030934 NP_112196 Q7Z2T5 TRM1L_HUMAN N2,N2-dimethylguanosine tRNA 356 intracellular RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding 0 TTGGCATCCATTTTGGTCACC 0.353000 HMCN1 83872 broad.mit.edu 37 1 186099106 186099106 + Missense_Mutation SNP G G T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr1:186099106G>T uc001grq.1 + 84 13142 c.12913G>T c.(12913-12915)GAC>TAC p.D4305Y HMCN1_uc001grs.1_5'UTR NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4305 Ig-like C2-type 42. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 AGCCCACTTTGACAGTGTGAA 0.413000 ARL8A 127829 broad.mit.edu 37 1 202107141 202107141 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr1:202107141C>T uc001gxk.1 - 3 396 c.230G>A c.(229-231)CGT>CAT p.R77H NM_138795 NP_620150 Q96BM9 ARL8A_HUMAN ADP-ribosylation factor-like 8A 77 cell division|chromosome segregation|mitosis|small GTPase mediated signal transduction late endosome membrane|lysosomal membrane|midbody|spindle midzone alpha-tubulin binding|beta-tubulin binding|GTP binding|GTPase activity ovary(2) 2 GCTGCGGAAACGCGGCTGTCC 0.617000 OR2W5 441932 broad.mit.edu 37 1 247654885 247654885 + Silent SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr1:247654885C>T uc001icz.1 + 1 456 c.456C>T c.(454-456)GGC>GGT p.G152G NM_001004698 NP_001004698 A6NFC9 OR2W5_HUMAN olfactory receptor, family 2, subfamily W, 152 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) GGTGCTGTGGCTTCCTAAACT 0.592000 OR14A16 284532 broad.mit.edu 37 1 247978434 247978434 + Missense_Mutation SNP T T C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr1:247978434T>C uc001idm.1 - 1 598 c.598A>G c.(598-600)ATT>GTT p.I200V NM_001001966 NP_001001966 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, 200 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ACTACATTAATAAGGATGAGT 0.393000 CHST3 9469 broad.mit.edu 37 10 73767375 73767375 + Missense_Mutation SNP T T A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr10:73767375T>A uc001jsn.2 + 3 1026 c.586T>A c.(586-588)TTC>ATC p.F196I NM_004273 NP_004264 Q7LGC8 CHST3_HUMAN chondroitin 6-sulfotransferase 3 196 Lumenal (Potential). chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 6-sulfotransferase activity 0 CAAGCAGCTCTTCCTGTGCGA 0.682000 ACTR1A 10121 broad.mit.edu 37 10 104244121 104244121 + Silent SNP G G T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr10:104244121G>T uc001kvv.2 - 6 561 c.453C>A c.(451-453)GGC>GGA p.G151G ACTR1A_uc010qqn.1_Silent_p.G77G|ACTR1A_uc010qqo.1_Silent_p.G104G NM_005736 NP_005727 P61163 ACTZ_HUMAN ARP1 actin-related protein 1 homolog A, 151 G2/M transition of mitotic cell cycle|vesicle-mediated transport centrosome|cytosol|dynactin complex ATP binding central_nervous_system(1) 1 Colorectal(252;0.122) Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222) CTGTGGTCCTGCCTGTAGCGT 0.537000 CPXM2 119587 broad.mit.edu 37 10 125539751 125539751 + Missense_Mutation SNP G G A rs145723018 TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr10:125539751G>A uc001lhk.1 - 7 1235 c.910C>T c.(910-912)CGC>TGC p.R304C CPXM2_uc001lhj.2_RNA NM_198148 NP_937791 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 304 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) TCGTTCCGGCGGTGATAATAA 0.453000 OR51A7 119687 broad.mit.edu 37 11 4929383 4929383 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr11:4929383C>T uc010qyq.1 + 1 784 c.784C>T c.(784-786)CAC>TAC p.H262Y NM_001004749 NP_001004749 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, 262 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TGCCATGCATCACTTTGCCAA 0.488000 OR5M3 219482 broad.mit.edu 37 11 56237908 56237908 + Missense_Mutation SNP T T G TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr11:56237908T>G uc010rjk.1 - 1 66 c.66A>C c.(64-66)CAA>CAC p.Q22H NM_001004742 NP_001004742 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, 22 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) AGAAGAGAACTTGCCATTCTC 0.418000 SF3B2 10992 broad.mit.edu 37 11 65825873 65825873 + Missense_Mutation SNP G G T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr11:65825873G>T uc001ogy.1 + 9 1003 c.963G>T c.(961-963)AAG>AAT p.K321N NM_006842 NP_006833 Q13435 SF3B2_HUMAN splicing factor 3B subunit 2 321 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(2)|breast(1) 3 TATCTAAAAAGGAGGTAGGGA 0.463000 DLG2 1740 broad.mit.edu 37 11 84996396 84996396 + Missense_Mutation SNP A A C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr11:84996396A>C uc001pak.2 - 4 366 c.54T>G c.(52-54)TTT>TTG p.F18L NM_001142699 NP_001136171 Q15700 DLG2_HUMAN chapsyn-110 isoform 1 Error:Variant_position_missing_in_Q15700_after_alignment cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TCACCTCATAAAATTCTTGGA 0.333000 GUCY1A2 2977 broad.mit.edu 37 11 106888532 106888532 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr11:106888532G>A uc001pjg.1 - 1 640 c.250C>T c.(250-252)CGG>TGG p.R84W GUCY1A2_uc010rvo.1_Missense_Mutation_p.R84W|GUCY1A2_uc009yxn.1_Missense_Mutation_p.R84W NM_000855 NP_000846 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 84 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding large_intestine(3)|lung(2)|pancreas(2)|ovary(1) 8 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) AGGTTGACCCGCCTCCGGCGC 0.483000 C11orf87 399947 broad.mit.edu 37 11 109294782 109294782 + Silent SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr11:109294782C>T uc001pkn.2 + 2 797 c.423C>T c.(421-423)TGC>TGT p.C141C C11orf87_uc010rwb.1_5'Flank NM_207645 NP_997528 Q6NUJ2 CK087_HUMAN hypothetical protein LOC399947 precursor 141 Cytoplasmic (Potential). integral to membrane ovary(2) 2 CTCCCTTCTGCGCCCCTTCCA 0.721000 SIK3 23387 broad.mit.edu 37 11 116734447 116734447 + Silent SNP G G T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr11:116734447G>T uc001ppy.2 - 15 1758 c.1722C>A c.(1720-1722)ATC>ATA p.I574I SIK3_uc001ppz.2_Silent_p.I473I|SIK3_uc001pqa.2_Silent_p.I574I|SIK3_uc001ppw.2_5'UTR|SIK3_uc001ppx.2_Missense_Mutation_p.S49Y|SIK3_uc001pqb.2_5'Flank NM_025164 NP_079440 Q9Y2K2 SIK3_HUMAN serine/threonine-protein kinase QSK 574 cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1) 12 TGAAGGCCTGGATGCTCGCAG 0.552000 OR8G2 26492 broad.mit.edu 37 11 124095807 124095807 + Missense_Mutation SNP T T G TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr11:124095807T>G uc010saf.1 + 1 410 c.410T>G c.(409-411)GTT>GGT p.V137G NM_001007249 NP_001007250 Q15614 OR8G2_HUMAN olfactory receptor, family 8, subfamily G, 137 integral to membrane olfactory receptor activity 0 Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) GACCGCTATGTTGCCATCTGC 0.458000 RPUSD4 84881 broad.mit.edu 37 11 126075385 126075385 + Silent SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr11:126075385G>A uc001qde.2 - 5 828 c.774C>T c.(772-774)CTC>CTT p.L258L RPUSD4_uc010sbl.1_Silent_p.L65L|RPUSD4_uc009zbz.2_Silent_p.L227L|RPUSD4_uc009zby.2_RNA NM_032795 NP_116184 Q96CM3 RUSD4_HUMAN RNA pseudouridylate synthase domain containing 4 258 pseudouridine synthesis protein binding|pseudouridine synthase activity|RNA binding breast(1) 1 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761) GGAGCTCCACGAGGGCGGAGG 0.577000 KCNA1 3736 broad.mit.edu 37 12 5021222 5021222 + Silent SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr12:5021222G>A uc001qnh.2 + 2 1783 c.678G>A c.(676-678)ACG>ACA p.T226T NM_000217 NP_000208 Q09470 KCNA1_HUMAN potassium voltage-gated channel subfamily A 226 Helical; Name=Segment S2; (Potential). T -> M (in EA1).|T -> A (in EA1). synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity ovary(1)|skin(1) 2 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TCGTGGAAACGCTGTGTATCA 0.507000 CLEC4D 338339 broad.mit.edu 37 12 8672848 8672848 + Silent SNP A A G rs138110414 byFrequency TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr12:8672848A>G uc001qun.2 + 5 604 c.411A>G c.(409-411)AGA>AGG p.R137R NM_080387 NP_525126 Q8WXI8 CLC4D_HUMAN C-type lectin domain family 4, member D 137 C-type lectin.|Extracellular (Potential). innate immune response integral to membrane sugar binding 0 Lung SC(5;0.184) TTCTGGATAGACGGCTTTCCT 0.383000 ARID2 196528 broad.mit.edu 37 12 46246234 46246234 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr12:46246234G>A uc001ros.1 + 15 4328 c.4328G>A c.(4327-4329)AGT>AAT p.S1443N ARID2_uc001ror.2_Missense_Mutation_p.S1443N|ARID2_uc009zkg.1_Missense_Mutation_p.S899N|ARID2_uc009zkh.1_Missense_Mutation_p.S1070N|ARID2_uc001rou.1_Missense_Mutation_p.S777N NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1443 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) CAGCAATTTAGTGGTACTGAT 0.423000 CCNT1 904 broad.mit.edu 37 12 49087216 49087216 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr12:49087216C>T uc001rse.1 - 9 2104 c.1781G>A c.(1780-1782)AGT>AAT p.S594N LOC144438_uc001rsd.3_5'Flank|CCNT1_uc009zkz.1_Missense_Mutation_p.S309N NM_001240 NP_001231 O60563 CCNT1_HUMAN cyclin T1 594 Ser-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 ovary(3)|lung(1)|breast(1)|skin(1) 6 GGATTTAGTACTCTTGGCAAT 0.468000 RND1 27289 broad.mit.edu 37 12 49255803 49255803 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr12:49255803C>T uc001rsn.2 - 3 410 c.307G>A c.(307-309)GCA>ACA p.A103T NM_014470 NP_055285 Q92730 RND1_HUMAN GTP-binding protein RHO6 precursor 103 actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction adherens junction|cytoskeleton|cytosol GTP binding|GTPase activity|receptor binding ovary(1) 1 TTCTTGAGTGCGCTGTCCACT 0.433000 ACVR1B 91 broad.mit.edu 37 12 52385743 52385743 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr12:52385743G>A uc001rzn.2 + 8 1400 c.1358G>A c.(1357-1359)CGT>CAT p.R453H ACVR1B_uc001rzm.2_Missense_Mutation_p.R453H|ACVR1B_uc010snn.1_Missense_Mutation_p.R494H NM_004302 NP_004293 P36896 ACV1B_HUMAN activin A receptor, type IB isoform a precursor 453 Protein kinase.|Cytoplasmic (Potential). G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1) 9 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) CAGAAGCTGCGTCCCAACATC 0.493000 SRGAP1 57522 broad.mit.edu 37 12 64521762 64521762 + Missense_Mutation SNP A A G TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr12:64521762A>G uc010ssp.1 + 21 2718 c.2662A>G c.(2662-2664)AGC>GGC p.S888G SRGAP1_uc001srv.2_Missense_Mutation_p.S825G NM_020762 NP_065813 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 888 axon guidance cytosol ovary(2)|central_nervous_system(2) 4 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) AGGGTCCCCAAGCCTTGCCAG 0.632000 MGAT4C 25834 broad.mit.edu 37 12 86383233 86383233 + Missense_Mutation SNP A A T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr12:86383233A>T uc001tai.3 - 6 1342 c.92T>A c.(91-93)GTT>GAT p.V31D MGAT4C_uc001tal.3_Missense_Mutation_p.V31D|MGAT4C_uc001taj.3_Missense_Mutation_p.V31D|MGAT4C_uc001tak.3_Missense_Mutation_p.V31D|MGAT4C_uc010sum.1_Missense_Mutation_p.V55D|MGAT4C_uc001tah.3_Missense_Mutation_p.V31D NM_013244 NP_037376 Q9UBM8 MGT4C_HUMAN alpha-1,3-mannosyl-glycoprotein 31 Helical; Signal-anchor for type II membrane protein; (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(3) 3 AATGACAAGAACTCCCAAGAA 0.313000 HNF1A 6927 broad.mit.edu 37 12 121435358 121435358 + Missense_Mutation SNP T T C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr12:121435358T>C uc001tzg.2 + 7 1414 c.1391T>C c.(1390-1392)TTC>TCC p.F464S HNF1A_uc001tzf.2_Missense_Mutation_p.F464S|HNF1A_uc010szn.1_Missense_Mutation_p.F464S NM_000545 NP_000536 P20823 HNF1A_HUMAN hepatic nuclear factor-1-alpha 464 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1) 116 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CCCGTCCAGTTCTCCCAGCCG 0.662000 Hepatic_Adenoma_Familial_Clustering_of RASL11A 387496 broad.mit.edu 37 13 27847440 27847440 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr13:27847440G>A uc001urd.1 + 4 1156 c.538G>A c.(538-540)GAA>AAA p.E180K NM_206827 NP_996563 Q6T310 RSLBA_HUMAN RAS-like, family 11, member A 180 Small GTPase-like. positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent membrane|nucleolus GTP binding|GTPase activity breast(1) 1 Lung SC(185;0.0161) Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164) TTCCACTAGCGAAAACTACGA 0.517000 SLC7A1 6541 broad.mit.edu 37 13 30097526 30097526 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr13:30097526G>A uc001uso.2 - 7 1313 c.926C>T c.(925-927)ACG>ATG p.T309M NM_003045 NP_003036 P30825 CTR1_HUMAN solute carrier family 7 (cationic amino acid 309 Extracellular (Potential). cellular nitrogen compound metabolic process|ion transport integral to plasma membrane receptor activity 0 Lung SC(185;0.0257)|Breast(139;0.238) all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) CATCATGAGCGTGAGGGCAGC 0.612000 FGF14 2259 broad.mit.edu 37 13 102568988 102568988 + Missense_Mutation SNP G G T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr13:102568988G>T uc001vpe.2 - 1 8 c.8C>A c.(7-9)GCG>GAG p.A3E FGF14_uc001vpf.2_Intron NM_004115 NP_004106 Q92915 FGF14_HUMAN fibroblast growth factor 14 isoform 1A 3 cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction nucleus growth factor activity|heparin binding ovary(2)|lung(1)|large_intestine(1) 4 all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AGCGATGGCCGCGGCCATGGT 0.761000 ATP11A 23250 broad.mit.edu 37 13 113508679 113508679 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr13:113508679C>T uc001vsi.3 + 19 2166 c.2078C>T c.(2077-2079)ACG>ATG p.T693M ATP11A_uc001vsj.3_Missense_Mutation_p.T693M|ATP11A_uc001vsm.1_Missense_Mutation_p.T569M|ATP11A_uc010ago.2_RNA NM_015205 NP_056020 P98196 AT11A_HUMAN ATPase, class VI, type 11A isoform a 693 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity large_intestine(2)|ovary(2) 4 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) AAGATGGAGACGGCCGCGGCC 0.622000 MCF2L 23263 broad.mit.edu 37 13 113750783 113750783 + Silent SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr13:113750783C>T uc001vsu.2 + 28 3367 c.3345C>T c.(3343-3345)GGC>GGT p.G1115G MCF2L_uc001vsq.2_Silent_p.G1115G|MCF2L_uc010tjr.1_Silent_p.G1058G|MCF2L_uc001vsr.2_Silent_p.G1062G|MCF2L_uc010tjs.1_Silent_p.G1056G NM_001112732 NP_001106203 O15068 MCF2L_HUMAN MCF.2 cell line derived transforming 1088 SH3. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity ovary(1)|kidney(1) 2 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) TGCAGGAGGGCGACGAGGGCC 0.697000 SYNE2 23224 broad.mit.edu 37 14 64681128 64681128 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr14:64681128G>A uc001xgm.2 + 106 19503 c.19273G>A c.(19273-19275)GTG>ATG p.V6425M SYNE2_uc001xgl.2_Missense_Mutation_p.V6425M|SYNE2_uc010apy.2_Missense_Mutation_p.V2810M|SYNE2_uc001xgn.2_Missense_Mutation_p.V1387M|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.V395M|SYNE2_uc001xgq.2_Missense_Mutation_p.V790M|SYNE2_uc001xgr.2_Missense_Mutation_p.V208M|SYNE2_uc010tsi.1_Missense_Mutation_p.V59M|SYNE2_uc001xgs.2_Missense_Mutation_p.V59M|SYNE2_uc001xgt.2_5'Flank NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6425 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CACAGGCGACGTGGGGGGCTC 0.642000 ZFYVE26 23503 broad.mit.edu 37 14 68264796 68264796 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr14:68264796C>T uc001xka.2 - 11 2322 c.2183G>A c.(2182-2184)CGA>CAA p.R728Q ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.R728Q|ZFYVE26_uc010tta.1_Missense_Mutation_p.R728Q NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 728 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) CTTGGAAAGTCGATGCAGGCG 0.552000 MTMR10 54893 broad.mit.edu 37 15 31244239 31244239 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr15:31244239G>A uc001zfh.1 - 12 1237 c.1139C>T c.(1138-1140)GCA>GTA p.A380V MTMR10_uc001zfg.1_5'Flank|MTMR10_uc010azx.1_Missense_Mutation_p.A132V|MTMR10_uc001zfi.1_Missense_Mutation_p.A132V|MTMR10_uc001zfj.2_Missense_Mutation_p.A298V|MTMR10_uc001zfk.2_Missense_Mutation_p.A132V NM_017762 NP_060232 Q9NXD2 MTMRA_HUMAN myotubularin related protein 10 380 Myotubularin phosphatase. phosphatase activity ovary(1) 1 all_lung(180;2.81e-11) all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174) CTTAAGGAATGCCCTGAAGAG 0.353000 HS3ST6 64711 broad.mit.edu 37 16 1962078 1962078 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr16:1962078C>T uc002cnf.2 - 2 449 c.449G>A c.(448-450)CGG>CAG p.R150Q NM_001009606 NP_001009606 C9JH64 C9JH64_HUMAN heparan sulfate (glucosamine) 150 0 CACGGGGTTCCGCACCACCAC 0.697000 RAB26 25837 broad.mit.edu 37 16 2201750 2201750 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr16:2201750C>T uc002cou.2 + 4 537 c.403C>T c.(403-405)CGG>TGG p.R135W RAB26_uc010bsf.2_Missense_Mutation_p.R69W NM_014353 NP_055168 Q9ULW5 RAB26_HUMAN RAB26, member RAS oncogene family 135 exocrine system development|protein transport|regulation of exocytosis|small GTPase mediated signal transduction intrinsic to plasma membrane GTP binding|protein binding 0 TGCCTACTACCGGGATGCTCA 0.632000 ZKSCAN2 342357 broad.mit.edu 37 16 25258325 25258325 + Missense_Mutation SNP T T C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr16:25258325T>C uc002dod.3 - 5 1599 c.1192A>G c.(1192-1194)AAA>GAA p.K398E ZKSCAN2_uc010vcl.1_Missense_Mutation_p.K194E|ZKSCAN2_uc002doe.2_Missense_Mutation_p.K398E NM_001012981 NP_001012999 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 398 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|breast(1) 4 GBM - Glioblastoma multiforme(48;0.0378) TGGAGACTTTTGAACTTGGTT 0.507000 ZNF668 79759 broad.mit.edu 37 16 31073217 31073217 + Silent SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr16:31073217C>T uc010caf.2 - 3 1389 c.1032G>A c.(1030-1032)ACG>ACA p.T344T ZNF668_uc002eao.2_Silent_p.T344T NM_024706 NP_078982 Q96K58 ZN668_HUMAN zinc finger protein 668 344 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4) 4 ACGCCACGAACGTCTTGTCAC 0.682000 MYLK3 91807 broad.mit.edu 37 16 46761267 46761267 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr16:46761267C>T uc002eei.3 - 8 1911 c.1795G>A c.(1795-1797)GAC>AAC p.D599N MYLK3_uc010vge.1_Missense_Mutation_p.D258N|MYLK3_uc002eej.1_Missense_Mutation_p.D258N NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 599 Protein kinase. cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1) 7 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) GTGATCCGGTCGAAGAGCTCA 0.562000 CX3CL1 6376 broad.mit.edu 37 16 57416298 57416298 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr16:57416298C>T uc002eli.2 + 3 615 c.548C>T c.(547-549)ACG>ATG p.T183M NM_002996 NP_002987 P78423 X3CL1_HUMAN chemokine (C-X3-C motif) ligand 1 precursor 183 Mucin-like stalk.|Extracellular (Potential). cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response cell surface|extracellular space|integral to membrane|plasma membrane chemokine activity 0 CCTGTGGGCACGGAGCTTTTC 0.682000 CTCF 10664 broad.mit.edu 37 16 67654694 67654694 + Missense_Mutation SNP T T C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr16:67654694T>C uc002etl.2 + 6 1471 c.1181T>C c.(1180-1182)CTG>CCG p.L394P CTCF_uc010cek.2_Missense_Mutation_p.L66P NM_006565 NP_006556 P49711 CTCF_HUMAN CCCTC-binding factor 394 C2H2-type 5. chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) ACATACAAGCTGAAAAGGCAC 0.468000 NEURL4 84461 broad.mit.edu 37 17 7224756 7224756 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr17:7224756C>T uc002gga.1 - 19 3129 c.3122G>A c.(3121-3123)CGT>CAT p.R1041H NEURL4_uc002gfy.1_5'Flank|GPS2_uc002gfz.1_5'Flank|NEURL4_uc002ggb.1_Missense_Mutation_p.R1039H NM_032442 NP_115818 Q96JN8 NEUL4_HUMAN neuralized homolog 4 isoform 1 1041 NHR 5. protein binding upper_aerodigestive_tract(1)|ovary(1) 2 TGCCCCCCGACGAACACCCAC 0.622000 RAB11FIP4 84440 broad.mit.edu 37 17 29855754 29855754 + Silent SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr17:29855754C>T uc002hgn.1 + 13 1840 c.1611C>T c.(1609-1611)GCC>GCT p.A537A RAB11FIP4_uc002hgo.2_Silent_p.A435A NM_032932 NP_116321 Q86YS3 RFIP4_HUMAN RAB11 family interacting protein 4 (class II) 537 Potential.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization. cytokinesis|interspecies interaction between organisms|protein transport cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding skin(1) 1 all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066) ATGCCAGGGCCCGCGAGGTGG 0.672000 FBXO47 494188 broad.mit.edu 37 17 37101317 37101317 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr17:37101317C>T uc002hrc.2 - 7 889 c.689G>A c.(688-690)CGA>CAA p.R230Q NM_001008777 NP_001008777 Q5MNV8 FBX47_HUMAN F-box protein 47 230 0 AGAATCACTTCGATGTGTCCA 0.388000 ERBB2 2064 broad.mit.edu 37 17 37868208 37868208 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr17:37868208C>T uc002hso.2 + 8 1167 c.929C>T c.(928-930)TCC>TTC p.S310F ERBB2_uc002hsm.2_Missense_Mutation_p.S280F|ERBB2_uc010cwa.2_Missense_Mutation_p.S295F|ERBB2_uc002hsp.2_Missense_Mutation_p.S113F|ERBB2_uc010cwb.2_Missense_Mutation_p.S310F|ERBB2_uc010wek.1_Missense_Mutation_p.S34F|ERBB2_uc002hsl.2_Missense_Mutation_p.S280F|ERBB2_uc002hsn.1_Missense_Mutation_p.S310F NM_004448 NP_004439 P04626 ERBB2_HUMAN erbB-2 isoform a 310 Extracellular (Potential). cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.S310F(2)|p.S310Y(1) lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1) 143 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) GACGTGGGATCCTGCACCCTC 0.582000 1 A|Mis|O breast|ovarian|other tumour types|NSCLC|gastric TCGA GBM(5;<1E-08) RNF43 54894 broad.mit.edu 37 17 56438233 56438233 + Nonsense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr17:56438233G>A uc002iwf.2 - 6 2716 c.760C>T c.(760-762)CAG>TAG p.Q254* RNF43_uc010wnv.1_Nonsense_Mutation_p.Q213*|RNF43_uc002iwh.3_Nonsense_Mutation_p.Q254*|RNF43_uc002iwg.3_Nonsense_Mutation_p.Q254*|RNF43_uc010dcw.2_Nonsense_Mutation_p.Q127* NM_017763 NP_060233 Q68DV7 RNF43_HUMAN ring finger protein 43 precursor 254 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding ovary(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCCCGGGCCTGCCTGCAGCTG 0.637000 KDM4B 23030 broad.mit.edu 37 19 5077397 5077397 + Silent SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr19:5077397G>A uc002mbq.3 + 8 922 c.696G>A c.(694-696)TCG>TCA p.S232S KDM4B_uc010xil.1_Silent_p.S232S|KDM4B_uc010xim.1_Silent_p.S232S|KDM4B_uc002mbr.3_5'UTR NM_015015 NP_055830 O94953 KDM4B_HUMAN jumonji domain containing 2B 232 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding lung(1) 1 CCGGGAGCTCGCAGGGCTGCG 0.657000 DNASE2 1777 broad.mit.edu 37 19 12986983 12986983 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr19:12986983G>A uc002mvn.1 - 6 1050 c.904C>T c.(904-906)CCA>TCA p.P302S DNASE2_uc010xmr.1_Missense_Mutation_p.P247S NM_001375 NP_001366 O00115 DNS2A_HUMAN deoxyribonuclease II, lysosomal precursor 302 apoptosis lysosome deoxyribonuclease II activity|DNA binding|protein binding 0 GGCCCTTTTGGGGACACGCAC 0.597000 Direct_reversal_of_damage DDX39 10212 broad.mit.edu 37 19 14519889 14519889 + Silent SNP A A G TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr19:14519889A>G uc010xnp.1 - 10 1272 c.1227T>C c.(1225-1227)AAT>AAC p.N409N DDX39_uc002myo.2_Silent_p.N409N|DDX39_uc010dzl.2_RNA NM_005804 NP_005795 O00148 DX39A_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 39 409 Helicase C-terminal. mRNA export from nucleus|nuclear mRNA splicing, via spliceosome nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding 0 GTTCTGCCACATTAACTTCAA 0.557000 MAP1S 55201 broad.mit.edu 37 19 17837242 17837242 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr19:17837242G>A uc002nhe.1 + 5 1058 c.1049G>A c.(1048-1050)CGC>CAC p.R350H MAP1S_uc010eaz.1_RNA|MAP1S_uc010eba.1_Missense_Mutation_p.R350H|MAP1S_uc002nhf.1_Intron|MAP1S_uc010xpv.1_Missense_Mutation_p.R324H NM_018174 NP_060644 Q66K74 MAP1S_HUMAN BPY2 interacting protein 1 350 Necessary for the microtubule-organizing center localization. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse actin filament binding|beta-tubulin binding|DNA binding|microtubule binding central_nervous_system(1) 1 CGGCTGGCGCGCGGCGAGGAT 0.726000 ZNF569 148266 broad.mit.edu 37 19 37903787 37903787 + Silent SNP A A C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr19:37903787A>C uc002ogi.2 - 6 2331 c.1773T>G c.(1771-1773)ACT>ACG p.T591T ZNF569_uc002ogh.2_Silent_p.T432T|ZNF569_uc002ogj.2_Silent_p.T615T NM_152484 NP_689697 Q5MCW4 ZN569_HUMAN zinc finger protein 569 591 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CAATAAGGGAAGTTCTTTGAG 0.408000 RYR1 6261 broad.mit.edu 37 19 38993186 38993186 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr19:38993186C>T uc002oit.2 + 48 7784 c.7654C>T c.(7654-7656)CGC>TGC p.R2552C RYR1_uc002oiu.2_Missense_Mutation_p.R2552C|RYR1_uc002oiv.1_5'UTR NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 2552 Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GGCGCTGAACCGCTACCTGTG 0.652000 MEIS3 56917 broad.mit.edu 37 19 47912430 47912430 + Nonsense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr19:47912430G>A uc002pgu.2 - 8 1231 c.784C>T c.(784-786)CGA>TGA p.R262* MEIS3_uc010xyp.1_5'Flank|MEIS3_uc002pgo.2_Nonsense_Mutation_p.R61*|MEIS3_uc002pgp.2_Nonsense_Mutation_p.R94*|MEIS3_uc002pgq.2_Nonsense_Mutation_p.R343*|MEIS3_uc002pgr.2_Nonsense_Mutation_p.R130*|MEIS3_uc002pgt.2_Nonsense_Mutation_p.R245*|MEIS3_uc002pgv.2_Nonsense_Mutation_p.R245*|MEIS3_uc002pgs.2_Nonsense_Mutation_p.R262*|MEIS3_uc010eld.2_Nonsense_Mutation_p.R262* NM_001009813 NP_001009813 Q99687 MEIS3_HUMAN Meis1, myeloid ecotropic viral integration site 262 Homeobox; TALE-type. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223) TTCTTGTTTCGCCGTCGCTCC 0.617000 PRR12 57479 broad.mit.edu 37 19 50102943 50102943 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr19:50102943C>T uc002poo.3 + 5 4093 c.4093C>T c.(4093-4095)CGG>TGG p.R1365W NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN proline rich 12 544 Pro-rich. DNA binding central_nervous_system(1)|pancreas(1) 2 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) ACCCTGCAAGCGGCTTGATGA 0.632000 TSKS 60385 broad.mit.edu 37 19 50247605 50247605 + Missense_Mutation SNP C C A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr19:50247605C>A uc002ppm.2 - 8 1255 c.1244G>T c.(1243-1245)GGC>GTC p.G415V NM_021733 NP_068379 Q9UJT2 TSKS_HUMAN testis-specific kinase substrate 415 protein binding large_intestine(1)|skin(1) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) TTTCAGTGGGCCCAGCCCCTC 0.597000 ZNF274 10782 broad.mit.edu 37 19 58723756 58723756 + Silent SNP T T C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr19:58723756T>C uc002qrq.1 + 10 1668 c.1209T>C c.(1207-1209)CGT>CGC p.R403R ZNF274_uc002qrr.1_Silent_p.R371R|ZNF274_uc002qrs.1_Silent_p.R298R|ZNF274_uc010eum.1_Silent_p.R162R NM_133502 NP_598009 Q96GC6 ZN274_HUMAN zinc finger protein 274 isoform c 403 viral reproduction centrosome|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215) TTGACAACCGTGAGTCCCAGG 0.512000 CEBPZ 10153 broad.mit.edu 37 2 37441097 37441097 + Nonsense_Mutation SNP T T A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr2:37441097T>A uc002rpz.2 - 10 2485 c.2455A>T c.(2455-2457)AAA>TAA p.K819* NM_005760 NP_005751 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein zeta 819 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding pancreas(1) 1 all_hematologic(82;0.21) GCAACTTTTTTATAATACCTA 0.303000 TTN 7273 broad.mit.edu 37 2 179595379 179595379 + Missense_Mutation SNP C C A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr2:179595379C>A uc010zfg.1 - 58 14373 c.14149G>T c.(14149-14151)GCT>TCT p.A4717S TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A1378S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5644 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTTCACTAGCTGATATTTCT 0.408000 TTN 7273 broad.mit.edu 37 2 179634998 179634998 + Silent SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr2:179634998G>A uc010zfg.1 - 36 8654 c.8430C>T c.(8428-8430)GCC>GCT p.A2810A TTN_uc010zfh.1_Silent_p.A2764A|TTN_uc010zfi.1_Silent_p.A2764A|TTN_uc010zfj.1_Silent_p.A2764A|TTN_uc002unb.2_Silent_p.A2810A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2810 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGGCAACAGTGGCATTTTCCA 0.403000 BMPR2 659 broad.mit.edu 37 2 203383565 203383565 + Nonsense_Mutation SNP T T A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr2:203383565T>A uc002uzf.3 + 6 1790 c.642T>A c.(640-642)TAT>TAA p.Y214* BMPR2_uc010ftr.2_Nonsense_Mutation_p.Y214* NM_001204 NP_001195 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor type II 214 ATP.|Protein kinase.|Cytoplasmic (Potential). anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1) 9 GAGGTCGATATGGAGCAGTAT 0.338000 EPHA4 2043 broad.mit.edu 37 2 222291236 222291236 + Missense_Mutation SNP A A C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr2:222291236A>C uc002vmq.2 - 16 2836 c.2794T>G c.(2794-2796)TTC>GTC p.F932V EPHA4_uc002vmr.2_Missense_Mutation_p.F932V|EPHA4_uc010zlm.1_Missense_Mutation_p.F873V|EPHA4_uc010zln.1_Missense_Mutation_p.F932V NM_004438 NP_004429 P54764 EPHA4_HUMAN ephrin receptor EphA4 precursor 932 Cytoplasmic (Potential).|SAM. integral to plasma membrane ATP binding|ephrin receptor activity p.F932F(2) lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1) 12 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) GCAGCTGTGAAGTTATCCTTA 0.463000 ATG16L1 55054 broad.mit.edu 37 2 234198933 234198933 + Missense_Mutation SNP T T C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr2:234198933T>C uc002vty.2 + 14 1621 c.1364T>C c.(1363-1365)ATT>ACT p.I455T ATG16L1_uc002vtx.1_Missense_Mutation_p.I292T|ATG16L1_uc002vua.2_Missense_Mutation_p.I436T|ATG16L1_uc002vub.2_Missense_Mutation_p.I313T|ATG16L1_uc002vtz.2_Missense_Mutation_p.I276T|ATG16L1_uc002vud.3_Missense_Mutation_p.I371T NM_030803 NP_110430 Q676U5 A16L1_HUMAN APG16 autophagy 16-like isoform 1 455 WD 4. autophagic vacuole assembly|protein homooligomerization|protein transport autophagic vacuole|pre-autophagosomal structure membrane protein binding 0 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539) Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11) TGCAATGATATTGTCTGCACA 0.418000 SRC 6714 broad.mit.edu 37 20 36031241 36031241 + Missense_Mutation SNP C C G TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr20:36031241C>G uc002xgx.2 + 13 1809 c.1360C>G c.(1360-1362)CTG>GTG p.L454V SRC_uc002xgy.2_Missense_Mutation_p.L454V NM_005417 NP_005408 P12931 SRC_HUMAN proto-oncogene tyrosine-protein kinase SRC 454 Protein kinase. axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation caveola|cytosol|mitochondrial inner membrane ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity large_intestine(10)|lung(1)|central_nervous_system(1)|endometrium(1) 13 Myeloproliferative disorder(115;0.00878) Dasatinib(DB01254) CTTCGGGATCCTGCTGACTGA 0.478000 TSHZ2 128553 broad.mit.edu 37 20 51872113 51872113 + Missense_Mutation SNP T T A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr20:51872113T>A uc002xwo.2 + 2 3072 c.2116T>A c.(2116-2118)TTG>ATG p.L706M NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 706 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) GAACAATCACTTGGGCAAAGC 0.577000 PHACTR3 116154 broad.mit.edu 37 20 58349321 58349321 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr20:58349321G>A uc002yau.2 + 7 1417 c.950G>A c.(949-951)GGG>GAG p.G317E PHACTR3_uc002yat.2_Missense_Mutation_p.G314E|PHACTR3_uc010zzw.1_Missense_Mutation_p.G276E|PHACTR3_uc002yav.2_Missense_Mutation_p.G276E|PHACTR3_uc002yaw.2_Missense_Mutation_p.G276E|PHACTR3_uc002yax.2_Missense_Mutation_p.G206E NM_080672 NP_542403 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 isoform 1 317 nuclear matrix actin binding|protein phosphatase inhibitor activity ovary(2)|pancreas(1) 3 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) GAAAGTAAAGGGTCTCCAAAG 0.527000 C2CD2 25966 broad.mit.edu 37 21 43319370 43319370 + Silent SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr21:43319370C>T uc002yzw.2 - 13 1904 c.1662G>A c.(1660-1662)GCG>GCA p.A554A C2CD2_uc002yzs.2_Silent_p.A23A|C2CD2_uc002yzt.2_Silent_p.A170A|C2CD2_uc002yzu.2_Silent_p.A386A|C2CD2_uc002yzv.2_Silent_p.A399A NM_015500 NP_056315 Q9Y426 CU025_HUMAN C2 calcium-dependent domain containing 2 isoform 554 cytosol|extracellular region|nucleus ovary(1) 1 CAGAGGCTGCCGCCCTCTCCG 0.667000 CACNA1I 8911 broad.mit.edu 37 22 40043924 40043924 + Silent SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr22:40043924G>A uc003ayc.2 + 9 1560 c.1560G>A c.(1558-1560)TCG>TCA p.S520S CACNA1I_uc003ayd.2_Intron|CACNA1I_uc003aye.2_Silent_p.S435S|CACNA1I_uc003ayf.2_Intron NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 520 Cytoplasmic (Potential). axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(1)|central_nervous_system(1) 2 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) ATGATCACTCGGGAAGAGGCA 0.517000 SBF1 6305 broad.mit.edu 37 22 50901807 50901807 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr22:50901807C>T uc003blh.2 - 16 1999 c.1804G>A c.(1804-1806)GCC>ACC p.A602T SBF1_uc011arx.1_Missense_Mutation_p.A266T|SBF1_uc003bli.2_Missense_Mutation_p.A603T NM_002972 NP_002963 O95248 MTMR5_HUMAN SET binding factor 1 602 protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) AGCTCCTGGGCGAGGCAGCGG 0.647000 CNTN6 27255 broad.mit.edu 37 3 1371584 1371584 + Missense_Mutation SNP G G T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr3:1371584G>T uc003boz.2 + 11 1596 c.1329G>T c.(1327-1329)TGG>TGT p.W443C CNTN6_uc011asj.1_Missense_Mutation_p.W371C|CNTN6_uc003bpa.2_Missense_Mutation_p.W443C NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 443 Ig-like C2-type 5. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) CTATCTCTTGGAAAAGAGGAA 0.333000 LRRC3B 116135 broad.mit.edu 37 3 26751343 26751343 + Missense_Mutation SNP A A T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr3:26751343A>T uc003cdp.2 + 2 769 c.180A>T c.(178-180)AGA>AGT p.R60S LRRC3B_uc003cdq.2_Missense_Mutation_p.R60S NM_052953 NP_443185 Q96PB8 LRC3B_HUMAN leucine rich repeat containing 3B precursor 60 LRRNT. integral to membrane pancreas(2)|ovary(1)|skin(1) 4 AAATACCTAGAGATCTTCCTC 0.423000 FEZF2 55079 broad.mit.edu 37 3 62358293 62358293 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr3:62358293G>A uc003dlh.2 - 1 458 c.251C>T c.(250-252)CCG>CTG p.P84L FEZF2_uc003dli.2_Missense_Mutation_p.P84L NM_018008 NP_060478 Q8TBJ5 FEZF2_HUMAN FEZ family zinc finger 2 84 transcription, DNA-dependent nucleus zinc ion binding lung(1) 1 Lung SC(41;0.0262) BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957) TGTCTTTGACGGCACCTCGTA 0.502000 KIAA2018 205717 broad.mit.edu 37 3 113379292 113379292 + Missense_Mutation SNP C C A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr3:113379292C>A uc003eam.2 - 7 1648 c.1237G>T c.(1237-1239)GAT>TAT p.D413Y KIAA2018_uc003eal.2_Missense_Mutation_p.D357Y NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 413 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 TTTTTCAAATCTGAAGTACTA 0.428000 ZBTB20 26137 broad.mit.edu 37 3 114070254 114070254 + Missense_Mutation SNP C C A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr3:114070254C>A uc003ebi.2 - 4 851 c.671G>T c.(670-672)AGC>ATC p.S224I ZBTB20_uc003ebj.2_Missense_Mutation_p.S151I|ZBTB20_uc010hqp.2_Missense_Mutation_p.S151I|ZBTB20_uc003ebk.2_Missense_Mutation_p.S151I|ZBTB20_uc003ebl.2_Missense_Mutation_p.S151I|ZBTB20_uc003ebm.2_Missense_Mutation_p.S151I|ZBTB20_uc003ebn.2_Missense_Mutation_p.S151I|uc003ebo.1_5'Flank NM_015642 NP_056457 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 isoform 224 S -> G (in Ref. 1; AAG28340). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) CGTGTCGCTGCTCTGGCCTGA 0.662000 PLSCR2 57047 broad.mit.edu 37 3 146173071 146173071 + Silent SNP T T C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr3:146173071T>C uc003evv.1 - 5 609 c.276A>G c.(274-276)AGA>AGG p.R92R PLSCR2_uc003evw.1_Silent_p.R161R NM_020359 NP_065092 Q9NRY7 PLS2_HUMAN phospholipid scramblase 2 92 Cytoplasmic (By similarity). phospholipid scrambling integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity 0 ATCTTAGTGGTCTTTCCAGAG 0.423000 PIK3CA 5290 broad.mit.edu 37 3 178916944 178916944 + Missense_Mutation SNP A A G TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr3:178916944A>G uc003fjk.2 + 2 488 c.331A>G c.(331-333)AAG>GAG p.K111E NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 111 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.K111N(10)|p.K111E(7)|p.K111R(1)|p.K111del(1)|p.K111_I112>N(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CCGTGAAGAAAAGATCCTCAA 0.333000 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) CHRD 8646 broad.mit.edu 37 3 184101337 184101337 + Silent SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr3:184101337G>A uc003fov.2 + 12 1593 c.1347G>A c.(1345-1347)GAG>GAA p.E449E CHRD_uc003fow.2_Silent_p.E79E|CHRD_uc003fox.2_Silent_p.E449E|CHRD_uc003foy.2_Silent_p.E79E|CHRD_uc010hyc.2_Intron|CHRD_uc011brr.1_Silent_p.E79E NM_003741 NP_003732 Q9H2X0 CHRD_HUMAN chordin precursor 449 CHRD 3. BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding skin(2)|ovary(1) 3 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CAAGCAGTGAGGTGGTGGCCA 0.637000 AHSG 197 broad.mit.edu 37 3 186330959 186330959 + Missense_Mutation SNP T T G TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr3:186330959T>G uc003fqk.3 + 1 110 c.29T>G c.(28-30)CTT>CGT p.L10R AHSG_uc003fqj.2_Missense_Mutation_p.L10R|AHSG_uc003fql.3_Missense_Mutation_p.L10R|AHSG_uc003fqm.3_Missense_Mutation_p.L10R|AHSG_uc010hyp.2_Missense_Mutation_p.L10R NM_001622 NP_001613 P02765 FETUA_HUMAN alpha-2-HS-glycoprotein 10 acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development extracellular space cysteine-type endopeptidase inhibitor activity|protein binding 0 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) CTCCTTTGTCTTGCTCAGCTC 0.607000 KIAA1530 57654 broad.mit.edu 37 4 1369243 1369243 + Silent SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr4:1369243G>A uc003gde.3 + 9 1827 c.1380G>A c.(1378-1380)GCG>GCA p.A460A KIAA1530_uc010ibv.2_Silent_p.A11A NM_020894 NP_065945 Q2YD98 K1530_HUMAN hypothetical protein LOC57654 460 0 OV - Ovarian serous cystadenocarcinoma(23;0.0138) CCACCTCTGCGGCTGCTCAGC 0.657000 NOP14 8602 broad.mit.edu 37 4 2952857 2952857 + Missense_Mutation SNP C C T rs143842679 byFrequency TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr4:2952857C>T uc003ggj.1 - 7 1058 c.986G>A c.(985-987)CGT>CAT p.R329H C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Missense_Mutation_p.R75H|NOP14_uc003ggk.3_Missense_Mutation_p.R329H|NOP14_uc003ggl.2_Missense_Mutation_p.R329H|NOP14_uc010icq.1_RNA NM_003703 NP_003694 P78316 NOP14_HUMAN probable nucleolar complex protein 14 329 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) mitochondrion|Noc4p-Nop14p complex|small-subunit processome snoRNA binding pancreas(1) 1 GGAAAGCAAACGCCTGTCATC 0.323000 KIAA1211 57482 broad.mit.edu 37 4 57181587 57181587 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr4:57181587G>A uc003hbk.2 + 8 2310 c.1919G>A c.(1918-1920)CGA>CAA p.R640Q KIAA1211_uc010iha.2_Missense_Mutation_p.R633Q|KIAA1211_uc011bzz.1_Missense_Mutation_p.R550Q|KIAA1211_uc003hbm.1_Missense_Mutation_p.R526Q NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 640 ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) AACCCTCCCCGAGGCCCCGGC 0.682000 ATOH1 474 broad.mit.edu 37 4 94750923 94750923 + Silent SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr4:94750923G>A uc003hta.1 + 1 846 c.846G>A c.(844-846)GCG>GCA p.A282A NM_005172 NP_005163 Q92858 ATOH1_HUMAN atonal homolog 1 282 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity 0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.57e-07) CAGCTTCTGCGGGAGGGTACT 0.652000 PRDM9 56979 broad.mit.edu 37 5 23510114 23510114 + Missense_Mutation SNP A A C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr5:23510114A>C uc003jgo.2 + 4 461 c.279A>C c.(277-279)GAA>GAC p.E93D NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 93 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 ATTCTGATGAAGAATGGACCC 0.363000 HNSCC(3;0.000094) PRDM9 56979 broad.mit.edu 37 5 23522456 23522456 + Silent SNP A A T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr5:23522456A>T uc003jgo.2 + 7 734 c.552A>T c.(550-552)CGA>CGT p.R184R NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 184 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 ATAGCCTGCGAGAAAGAAAGG 0.458000 HNSCC(3;0.000094) OSMR 9180 broad.mit.edu 37 5 38876363 38876363 + Missense_Mutation SNP G G A rs147223683 TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr5:38876363G>A uc003jln.1 + 3 501 c.134G>A c.(133-135)CGT>CAT p.R45H OSMR_uc003jlm.1_Missense_Mutation_p.R45H NM_003999 NP_003990 Q99650 OSMR_HUMAN oncostatin M receptor precursor 45 Extracellular (Potential). cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_lung(31;0.000365) AATTCTACGCGTCAGAGTTTG 0.358000 GPR98 84059 broad.mit.edu 37 5 90059209 90059209 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr5:90059209G>A uc003kju.2 + 59 12304 c.12208G>A c.(12208-12210)GTC>ATC p.V4070I GPR98_uc003kjt.2_Missense_Mutation_p.V1776I NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 4070 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AAAAGGAACCGTCCGACTTGA 0.443000 PCDHA3 56145 broad.mit.edu 37 5 140182233 140182233 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr5:140182233C>T uc003lhf.2 + 1 1451 c.1451C>T c.(1450-1452)GCG>GTG p.A484V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.A484V NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 484 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACGCGGACGCGCAGGAGAAC 0.667000 PCDHA3 56145 broad.mit.edu 37 5 140183035 140183035 + Silent SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr5:140183035G>A uc003lhf.2 + 1 2253 c.2253G>A c.(2251-2253)TCG>TCA p.S751S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.S751S NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 751 Cytoplasmic (Potential).|6 X 4 AA repeats of P-X-X-P. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTCATACTCGCAGCAGAGGC 0.637000 ARHGEF37 389337 broad.mit.edu 37 5 148977438 148977438 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr5:148977438C>T uc003lra.1 + 2 170 c.106C>T c.(106-108)CGG>TGG p.R36W NM_001001669 NP_001001669 A1IGU5 ARH37_HUMAN hypothetical protein LOC389337 36 DH. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity 0 GCTGGCTGTCCGGGAGCTCAT 0.612000 FAT2 2196 broad.mit.edu 37 5 150901562 150901562 + Missense_Mutation SNP G G T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr5:150901562G>T uc003lue.3 - 18 10605 c.10592C>A c.(10591-10593)GCT>GAT p.A3531D GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.A224D NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 3531 Extracellular (Potential).|Cadherin 31. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAGTGGGAGAGCAGAAGGTGC 0.567000 KIF4B 285643 broad.mit.edu 37 5 154395311 154395311 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr5:154395311G>A uc010jih.1 + 1 2052 c.1892G>A c.(1891-1893)CGT>CAT p.R631H NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 631 Potential. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TCCACAGAGCGTACTGTCTCC 0.443000 C5orf41 153222 broad.mit.edu 37 5 172517427 172517427 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr5:172517427G>A uc003mch.2 + 4 549 c.245G>A c.(244-246)GGT>GAT p.G82D C5orf41_uc003mcg.2_Missense_Mutation_p.G82D|C5orf41_uc003mcf.2_Missense_Mutation_p.G82D|C5orf41_uc011dfd.1_Missense_Mutation_p.G82D NM_153607 NP_705835 Q8IUR6 CE041_HUMAN luman-recruiting factor 82 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GATAATGAGGGTGCTTTAACC 0.413000 FLT4 2324 broad.mit.edu 37 5 180056397 180056397 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr5:180056397G>A uc003mma.3 - 7 926 c.847C>T c.(847-849)CGC>TGC p.R283C FLT4_uc003mlz.3_Missense_Mutation_p.R283C|FLT4_uc003mmb.1_Translation_Start_Site|FLT4_uc011dgy.1_Missense_Mutation_p.R283C|FLT4_uc011dgz.1_Intron NM_002020 NP_002011 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 isoform 2 283 Ig-like C2-type 3.|Extracellular (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 15 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) TGCTGGGAGCGTCGCTCGGGC 0.657000 Congenital_Hereditary_Lymphedema SYCP2L 221711 broad.mit.edu 37 6 10894339 10894339 + Nonsense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr6:10894339C>T uc003mzo.2 + 4 534 c.238C>T c.(238-240)CAG>TAG p.Q80* SYCP2L_uc011dim.1_RNA NM_001040274 NP_001035364 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 80 nucleus ovary(1)|skin(1) 2 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) AAATGAATTTCAGTCTGTGTC 0.363000 HIST1H2BC 8347 broad.mit.edu 37 6 26123998 26123998 + Silent SNP C C A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr6:26123998C>A uc003ngk.3 - 1 157 c.135G>T c.(133-135)GTG>GTT p.V45V HIST1H2BC_uc003ngl.2_Silent_p.V45V|HIST1H2AC_uc003ngm.2_5'Flank|HIST1H2AC_uc003ngn.2_5'Flank|HIST1H2AC_uc003ngo.2_5'Flank|HIST1H2AC_uc003ngp.2_5'Flank NM_003526 NP_003517 P62807 H2B1C_HUMAN histone cluster 1, H2bc 45 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding ovary(1) 1 CCTGTTTCAGCACCTTGTACA 0.527000 HSPA1L 3305 broad.mit.edu 37 6 31778313 31778313 + Silent SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr6:31778313C>T uc003nxh.2 - 2 1620 c.1437G>A c.(1435-1437)ACG>ACA p.T479T HSPA1L_uc010jte.2_Silent_p.T479T NM_005527 NP_005518 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 479 response to unfolded protein ATP binding ovary(3)|pleura(1)|kidney(1)|skin(1) 6 CAATGTCAAACGTCACCTCGA 0.552000 TNXB 7148 broad.mit.edu 37 6 32010312 32010312 + Missense_Mutation SNP T T C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr6:32010312T>C uc003nzl.2 - 40 12326 c.12124A>G c.(12124-12126)AGC>GGC p.S4042G TNXB_uc003nzg.1_Missense_Mutation_p.S473G|TNXB_uc003nzh.1_Missense_Mutation_p.S511G NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 4089 Fibrinogen C-terminal. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 AAGATGGTGCTGGTCCTGGAG 0.662000 COL11A2 1302 broad.mit.edu 37 6 33136332 33136332 + Silent SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr6:33136332G>A uc003ocx.1 - 54 4152 c.3924C>T c.(3922-3924)ACC>ACT p.T1308T COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.T1222T|COL11A2_uc003ocz.1_Silent_p.T1201T NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 1308 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 CATTCTCCCCGGTGGGACCAG 0.627000 C6orf138 442213 broad.mit.edu 37 6 48036017 48036017 + Missense_Mutation SNP C C A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr6:48036017C>A uc011dwm.1 - 1 409 c.324G>T c.(322-324)TTG>TTT p.L108F C6orf138_uc011dwn.1_Intron|C6orf138_uc003ozf.2_Missense_Mutation_p.L125F NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 125 integral to membrane hedgehog receptor activity central_nervous_system(1) 1 CAGCCTGGAGCAAAATATTGT 0.537000 HMGCLL1 54511 broad.mit.edu 37 6 55304324 55304324 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr6:55304324C>T uc003pcn.2 - 9 1078 c.919G>A c.(919-921)GGA>AGA p.G307R HMGCLL1_uc003pco.2_Missense_Mutation_p.G277R|HMGCLL1_uc010jzx.2_Missense_Mutation_p.G178R|HMGCLL1_uc011dxc.1_Missense_Mutation_p.G245R|HMGCLL1_uc011dxd.1_Missense_Mutation_p.G174R|HMGCLL1_uc011dxe.1_Missense_Mutation_p.G111R NM_019036 NP_061909 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-Coenzyme A 307 hydroxymethylglutaryl-CoA lyase activity|metal ion binding skin(2)|ovary(1)|pancreas(1) 4 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) CCACCTAATCCGGATACTGCG 0.418000 C6orf174 387104 broad.mit.edu 37 6 127796968 127796968 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr6:127796968G>A uc003qbd.2 - 6 3068 c.2203C>T c.(2203-2205)CGC>TGC p.R735C C6orf174_uc003qbc.2_5'Flank NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN hypothetical protein LOC387104 precursor 735 integral to membrane breast(3)|ovary(2)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161) AGGTCGTAGCGCTGCATGTTG 0.677000 HIVEP2 3097 broad.mit.edu 37 6 143090937 143090937 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr6:143090937C>T uc003qjd.2 - 5 5682 c.4939G>A c.(4939-4941)GTG>ATG p.V1647M NM_006734 NP_006725 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer 1647 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) CACCAACTCACAGTAGTTGTT 0.478000 TTLL2 83887 broad.mit.edu 37 6 167753692 167753692 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr6:167753692G>A uc003qvs.1 + 3 392 c.304G>A c.(304-306)GTC>ATC p.V102I TTLL2_uc011egr.1_RNA NM_031949 NP_114155 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 102 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) GGTGCAAAGCGTCCTCCTGGA 0.542000 PDE1C 5137 broad.mit.edu 37 7 31862790 31862790 + Silent SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr7:31862790C>T uc003tcm.1 - 14 1948 c.1479G>A c.(1477-1479)CCG>CCA p.P493P PDE1C_uc003tcn.1_Silent_p.P493P|PDE1C_uc003tco.1_Silent_p.P553P|PDE1C_uc003tcr.2_Silent_p.P493P|PDE1C_uc003tcs.2_Silent_p.P493P NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 493 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) AATTGTTGATCGGGGCACTTC 0.468000 GLI3 2737 broad.mit.edu 37 7 42007484 42007484 + Missense_Mutation SNP C C A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr7:42007484C>A uc011kbh.1 - 14 2232 c.2141G>T c.(2140-2142)AGC>ATC p.S714I GLI3_uc011kbg.1_Missense_Mutation_p.S655I NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 714 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 CTGTTGGCTGCTGCATGAAGA 0.532000 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome HECW1 23072 broad.mit.edu 37 7 43503377 43503377 + Nonsense_Mutation SNP G G T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr7:43503377G>T uc003tid.1 + 14 3375 c.2770G>T c.(2770-2772)GAA>TAA p.E924* HECW1_uc011kbi.1_Nonsense_Mutation_p.E890* NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 924 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 CTCAGAAGCCGAATCTTCCCA 0.587000 MYO1G 64005 broad.mit.edu 37 7 45005235 45005235 + Splice_Site SNP C C A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr7:45005235C>A uc003tmh.2 - 17 2525 c.2381_splice c.e17+1 p.R794_splice MYO1G_uc003tmf.2_Splice_Site_p.R237_splice|MYO1G_uc003tmg.2_Splice_Site_p.R556_splice|MYO1G_uc010kym.2_Splice_Site_p.R679_splice NM_033054 NP_149043 B0I1T2 MYO1G_HUMAN myosin IG myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|ovary(1)|pancreas(1) 4 GAGAGTAGTACCTGCAGAAGA 0.607000 SMO 6608 broad.mit.edu 37 7 128845479 128845479 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr7:128845479C>T uc003vor.2 + 4 1056 c.776C>T c.(775-777)TCG>TTG p.S259L SMO_uc003vos.2_5'Flank NM_005631 NP_005622 Q99835 SMO_HUMAN smoothened precursor 259 Cytoplasmic (Potential). adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1) 37 TGGCGGAACTCGAATCGCTAC 0.547000 Mis skin basal cell LOXL2 4017 broad.mit.edu 37 8 23225708 23225708 + Missense_Mutation SNP C C T rs138503568 byFrequency TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr8:23225708C>T uc003xdh.1 - 2 496 c.157G>A c.(157-159)GTG>ATG p.V53M NM_002318 NP_002309 Q9Y4K0 LOXL2_HUMAN lysyl oxidase-like 2 precursor 53 aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity p.Q48_A54delQAPANVA(1)|p.Q48_A54del(1) breast(2)|ovary(1) 3 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) ATCTTGGCCACGTTGGCGGGG 0.642000 MMP16 4325 broad.mit.edu 37 8 89209420 89209420 + Missense_Mutation SNP T T G TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr8:89209420T>G uc003yeb.3 - 2 530 c.248A>C c.(247-249)AAC>ACC p.N83T MMP16_uc003yec.2_Missense_Mutation_p.N83T NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 83 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 TCCTGTCATGTTAATGCCATA 0.483000 RNF19A 25897 broad.mit.edu 37 8 101300277 101300277 + Silent SNP T T A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr8:101300277T>A uc003yjj.1 - 3 443 c.126A>T c.(124-126)CGA>CGT p.R42R RNF19A_uc003yjk.1_Silent_p.R42R|RNF19A_uc003yjl.1_Silent_p.R42R NM_015435 NP_056250 Q9NV58 RN19A_HUMAN ring finger protein 19 42 microtubule cytoskeleton organization|protein modification process centrosome|integral to membrane ligase activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) ACTGAAGATCTCGATCTGAAC 0.408000 CSMD3 114788 broad.mit.edu 37 8 113933924 113933924 + Missense_Mutation SNP T T C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr8:113933924T>C uc003ynu.2 - 10 1724 c.1565A>G c.(1564-1566)AAG>AGG p.K522R CSMD3_uc003ynt.2_Missense_Mutation_p.K482R|CSMD3_uc011lhx.1_Missense_Mutation_p.K418R NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 522 Extracellular (Potential).|Sushi 2. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GGTGATGCTCTTTGCGCCCTG 0.388000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) ADAMTSL2 9719 broad.mit.edu 37 9 136409627 136409627 + Nonsense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr9:136409627C>T uc011mdl.1 + 8 1275 c.718C>T c.(718-720)CGA>TGA p.R240* ADAMTSL2_uc004cei.2_Nonsense_Mutation_p.R240* NM_001145320 NP_001138792 Q86TH1 ATL2_HUMAN ADAMTS-like 2 precursor 240 negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06) GGCTGGTGCCCGAGACATCCA 0.577000 OLFM1 10439 broad.mit.edu 37 9 138012012 138012012 + Silent SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr9:138012012C>T uc010nar.2 + 6 1762 c.1446C>T c.(1444-1446)TCC>TCT p.S482S OLFM1_uc004cfl.3_Silent_p.S464S|OLFM1_uc004cfn.3_Silent_p.S233S NM_014279 NP_055094 Q99784 NOE1_HUMAN olfactomedin related ER localized protein 482 Prevents secretion from ER (Potential). nervous system development endoplasmic reticulum lumen protein binding ovary(1)|skin(1) 2 Myeloproliferative disorder(178;0.0333) Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07) TCATCCGCTCCGACGAGTTGT 0.557000 KAL1 3730 broad.mit.edu 37 X 8538633 8538634 + Missense_Mutation DNP GA GA TG rs137879324 byFrequency TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chrX:8538633_8538634GA>TG uc004csf.2 - 7 1118_1119 c.968_969TC>CA c.(967-969)ATC>ACA p.I323T NM_000216 NP_000207 P23352 KALM_HUMAN Kallmann syndrome 1 protein precursor 323 Fibronectin type-III 2. axon guidance|cell adhesion|cellular component movement extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity ovary(3)|pancreas(1) 4 GATGCACAGGGATGTCCGGCTC 0.550000 SHROOM2 357 broad.mit.edu 37 X 9900503 9900503 + Silent SNP A A G TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chrX:9900503A>G uc004csu.1 + 6 3270 c.3180A>G c.(3178-3180)CCA>CCG p.P1060P SHROOM2_uc004csv.2_5'UTR|SHROOM2_uc011mic.1_5'UTR|SHROOM2_uc004csw.1_5'UTR NM_001649 NP_001640 Q13796 SHRM2_HUMAN apical protein of Xenopus-like 1060 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 Hepatocellular(5;0.000888) CCAAGAGGCCAGCCCCACAGA 0.697000 FRMPD4 9758 broad.mit.edu 37 X 12735634 12735634 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chrX:12735634C>T uc004cuz.1 + 16 3195 c.2689C>T c.(2689-2691)CGG>TGG p.R897W FRMPD4_uc011mij.1_Missense_Mutation_p.R889W NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 897 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1) 13 AGCCATCTTGCGGGCTTATAG 0.438000 PCYT1B 9468 broad.mit.edu 37 X 24597470 24597470 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chrX:24597470C>T uc004dbi.2 - 6 904 c.671G>A c.(670-672)GGG>GAG p.G224E PCYT1B_uc004dbk.3_Missense_Mutation_p.G224E|PCYT1B_uc004dbj.2_Missense_Mutation_p.G206E NM_004845 NP_004836 Q9Y5K3 PCY1B_HUMAN choline phosphate cytidylyltransferase 1 beta 224 Catalytic (Potential). endoplasmic reticulum choline-phosphate cytidylyltransferase activity 0 Choline(DB00122) GGCTGTATACCCTCTCTGGAG 0.453000 FAM47A 158724 broad.mit.edu 37 X 34148983 34148983 + Silent SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chrX:34148983G>A uc004ddg.2 - 1 1446 c.1413C>T c.(1411-1413)CCC>CCT p.P471P NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 471 ovary(4)|central_nervous_system(1) 5 CCTGAGTCTCGGGAGGCTGCA 0.602000 TMEM47 83604 broad.mit.edu 37 X 34657453 34657453 + Missense_Mutation SNP A A G TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chrX:34657453A>G uc004ddh.2 - 2 537 c.278T>C c.(277-279)CTC>CCC p.L93P TMEM47_uc010ngs.2_RNA NM_031442 NP_113630 Q9BQJ4 TMM47_HUMAN transmembrane protein 47 93 Helical; (Potential). integral to membrane lung(1) 1 GAATGCAATGAGAATGATGGC 0.443000 RGN 9104 broad.mit.edu 37 X 46949185 46949185 + Silent SNP T T C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chrX:46949185T>C uc004dgz.1 + 5 1326 c.357T>C c.(355-357)GCT>GCC p.A119A RGN_uc004dha.1_Silent_p.A119A|RGN_uc010nho.1_Silent_p.A66A|RGN_uc010nhp.1_Intron NM_152869 NP_690608 Q15493 RGN_HUMAN regucalcin 119 cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling cytoplasm|nucleus calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding 0 GCACCATGGCTGAGGAAACAG 0.527000 PRICKLE3 4007 broad.mit.edu 37 X 49032336 49032336 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chrX:49032336G>A uc004dmy.1 - 9 1560 c.1534C>T c.(1534-1536)CGC>TGC p.R512C PRICKLE3_uc011mmv.1_Missense_Mutation_p.R444C|PRICKLE3_uc011mmw.1_Missense_Mutation_p.R431C|PRICKLE3_uc011mmx.1_Missense_Mutation_p.R474C NM_006150 NP_006141 O43900 PRIC3_HUMAN LIM domain only 6 512 protein binding|zinc ion binding breast(1) 1 tgatggtggCGGCGACGGCTG 0.592000 ALAS2 212 broad.mit.edu 37 X 55050237 55050237 + Missense_Mutation SNP T T C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chrX:55050237T>C uc004dua.3 - 4 506 c.368A>G c.(367-369)GAG>GGG p.E123G ALAS2_uc004dub.3_Intron|ALAS2_uc004dud.3_Intron NM_000032 NP_000023 P22557 HEM0_HUMAN 5-aminolevulinate synthase 2 isoform a 123 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(1) 1 Glycine(DB00145) AGAGATCTGCTCCTGCTCCTG 0.517000 CITED1 4435 broad.mit.edu 37 X 71521802 71521802 + Missense_Mutation SNP G G T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chrX:71521802G>T uc011mqd.1 - 3 508 c.353C>A c.(352-354)GCA>GAA p.A118E CITED1_uc011mqc.1_Missense_Mutation_p.A144E|CITED1_uc004eas.2_Missense_Mutation_p.A118E|CITED1_uc004eat.2_Missense_Mutation_p.A118E NM_001144887 NP_001138359 Q99966 CITE1_HUMAN melanocyte-specific gene 1 isoform 1 118 apoptosis|branching involved in ureteric bud morphogenesis|cell proliferation|melanin biosynthetic process|melanocyte differentiation|mesenchymal to epithelial transition|metanephros development|negative regulation of neuron apoptosis|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|nucleocytoplasmic transport|placenta development|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to cAMP|response to estrogen stimulus|response to insulin stimulus|response to interferon-gamma|response to interleukin-1|response to interleukin-11|response to interleukin-2|response to interleukin-4|response to interleukin-6|response to interleukin-9|response to lipopolysaccharide|response to parathyroid hormone stimulus|response to transforming growth factor beta stimulus|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway cytosol|nucleus chromatin binding|co-SMAD binding|LBD domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding 0 Renal(35;0.156) CAGGGGTCCTGCCTCCCCGGG 0.612000 H2BFWT 158983 broad.mit.edu 37 X 103268176 103268176 + Silent SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chrX:103268176C>T uc004elr.2 - 1 81 c.57G>A c.(55-57)TCG>TCA p.S19S NM_001002916 NP_001002916 Q7Z2G1 H2BWT_HUMAN H2B histone family, member W, testis-specific 19 nucleosome assembly nuclear membrane|nucleosome DNA binding ovary(1) 1 TTAGATGGCACGACCAGACAA 0.607000 TBC1D8B 54885 broad.mit.edu 37 X 106066491 106066491 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chrX:106066491C>T uc004emo.2 + 5 787 c.622C>T c.(622-624)CTT>TTT p.L208F MORC4_uc004emp.3_Intron|TBC1D8B_uc004emm.2_Missense_Mutation_p.L208F|TBC1D8B_uc004emn.2_Missense_Mutation_p.L208F NM_017752 NP_060222 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 208 GRAM 1. intracellular calcium ion binding|Rab GTPase activator activity ovary(2)|central_nervous_system(1)|skin(1) 4 AGTCTCAAAACTTGAAAAGAC 0.323000 KIAA1210 57481 broad.mit.edu 37 X 118222008 118222008 + Missense_Mutation SNP T T C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chrX:118222008T>C uc004era.3 - 11 3185 c.3185A>G c.(3184-3186)AAG>AGG p.K1062R NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 1062 ovary(4)|skin(1) 5 GTCCAGGAACTTAGGCCTCTC 0.532000 IGSF1 3547 broad.mit.edu 37 X 130412056 130412056 + Missense_Mutation SNP T T A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chrX:130412056T>A uc004ewd.2 - 13 2332 c.2094A>T c.(2092-2094)GAA>GAT p.E698D IGSF1_uc004ewe.3_Missense_Mutation_p.E692D|IGSF1_uc004ewf.2_Missense_Mutation_p.E678D NM_001555 NP_001546 Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 isoform 1 698 Extracellular (Potential).|Ig-like C2-type 7. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding ovary(3)|lung(1)|central_nervous_system(1) 5 GGAGTTGTAGTTCCTGGCCCC 0.527000 GPR112 139378 broad.mit.edu 37 X 135430802 135430802 + Missense_Mutation SNP T T C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chrX:135430802T>C uc004ezu.1 + 6 5228 c.4937T>C c.(4936-4938)CTC>CCC p.L1646P GPR112_uc010nsb.1_Missense_Mutation_p.L1441P|GPR112_uc010nsc.1_Missense_Mutation_p.L1413P NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1646 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) ACGACCTTTCTCTCTCCAACA 0.463000 SLITRK2 84631 broad.mit.edu 37 X 144903992 144903992 + Silent SNP T T C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chrX:144903992T>C uc004fcd.2 + 5 1039 c.49T>C c.(49-51)TTA>CTA p.L17L SLITRK2_uc010nsp.2_Silent_p.L17L|SLITRK2_uc010nso.2_Silent_p.L17L|SLITRK2_uc011mwq.1_Silent_p.L17L|SLITRK2_uc011mwr.1_Silent_p.L17L|SLITRK2_uc011mws.1_Silent_p.L17L|SLITRK2_uc004fcg.2_Silent_p.L17L|SLITRK2_uc011mwt.1_Silent_p.L17L NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 17 integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) GGCCGGGATCTTACAGACAGA 0.488000 L1CAM 3897 broad.mit.edu 37 X 153129810 153129810 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chrX:153129810G>A uc004fjb.2 - 24 3397 c.3289C>T c.(3289-3291)CGG>TGG p.R1097W L1CAM_uc004fjc.2_Missense_Mutation_p.R1097W|L1CAM_uc010nuo.2_Missense_Mutation_p.R1092W NM_000425 NP_000416 P32004 L1CAM_HUMAN L1 cell adhesion molecule isoform 1 precursor 1097 Fibronectin type-III 5.|Extracellular (Potential). axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane ovary(8)|central_nervous_system(1) 9 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ATTTGGTGCCGGAACATCCTC 0.572000 PTCH2 8643 broad.mit.edu 37 1 45292286 45292286 + Frame_Shift_Del DEL G G - rs67515835 TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr1:45292285_45292285AG>A uc010olf.2 - 17 2863 c.2851_2851CT>T c.(2851-2853)ttcfs p.F951fs PTCH2_uc021omv.1_Frame_Shift_Del_p.F951fs|PTCH2_uc010olg.2_Frame_Shift_Del_p.F649fs NM_003738 NP_003729 Q9Y6C5 PTC2_HUMAN Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA. 951 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) CAGAAGAGGAAGGGGGAGCCG 0.662 Basal Cell Nevus syndrome TGFBR2 7048 broad.mit.edu 37 3 30691807 30691807 + Frame_Shift_Del DEL C C - TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr3:30691806_30691806AC>A uc003ceo.3 + 2 690 c.308_308AC>A c.(307-309)gacfs p.D103fs TGFBR2_uc021wut.1_5'UTR|TGFBR2_uc003cen.3_Frame_Shift_Del_p.D128fs NM_003242 NP_003233 P37173 TGFR2_HUMAN Homo sapiens transforming growth factor, beta receptor II (70/80kDa) (TGFBR2), transcript variant 2, mRNA. 103 activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of NK T cell differentiation|positive regulation of T cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of reactive oxygen species metabolic process|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|SMAD binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 GTTTGCCATGACCCCAAGCTC 0.433 OR4C6 219432 broad.mit.edu 37 11 55432816 55432816 + Frame_Shift_Del DEL T T - TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 g.chr11:55432815_55432815AT>A uc010rik.2 + 0 173 c.173_173AT>A c.(172-174)tatfs p.Y58fs NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA. 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M57I(1) breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 TCACCTATGTATTTTTTTCTT 0.418