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 TAS1R3 83756 broad.mit.edu 37 1 1268161 1268161 + Missense_Mutation SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr1:1268161C>T uc010nyk.1 + 3 1250 c.1250C>T c.(1249-1251)GCG>GTG p.A417V NM_152228 NP_689414 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 precursor 417 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) GGCTGCCCCGCGCAGGACCCC 0.652 CASZ1 54897 broad.mit.edu 37 1 10700034 10700034 + Silent SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr1:10700034C>T uc001aro.2 - 21 4565 c.4245G>A c.(4243-4245)CGG>CGA p.R1415R NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a 1415 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding skin(1) 1 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) CCGTCTTCCGCCGCTTGCCGA 0.632 MTOR 2475 broad.mit.edu 37 1 11188135 11188135 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr1:11188135G>A uc001asd.2 - 43 6080 c.5959C>T c.(5959-5961)CGG>TGG p.R1987W MTOR_uc001asc.2_Missense_Mutation_p.R192W NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 1987 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 GCATTGTGCCGGGCTGTCGTG 0.527 PUM1 9698 broad.mit.edu 37 1 31414062 31414062 + Nonsense_Mutation SNP T T A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr1:31414062T>A uc001bsi.1 - 20 3285 c.3172A>T c.(3172-3174)AAA>TAA p.K1058* PUM1_uc001bsf.1_Nonsense_Mutation_p.K726*|PUM1_uc001bsg.1_Nonsense_Mutation_p.K792*|PUM1_uc001bsh.1_Nonsense_Mutation_p.K1060*|PUM1_uc001bsj.1_Nonsense_Mutation_p.K1034*|PUM1_uc010oga.1_Nonsense_Mutation_p.K916*|PUM1_uc001bsk.1_Nonsense_Mutation_p.K1096*|PUM1_uc010ogb.1_Nonsense_Mutation_p.K999*|SNORD103A_uc009vts.1_Intron NM_014676 NP_055491 Q14671 PUM1_HUMAN pumilio 1 isoform 2 1058 PUM-HD.|Pumilio 6. cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) ATTTTGCTTTTATCCTCAGGA 0.383 CACHD1 57685 broad.mit.edu 37 1 65157095 65157095 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr1:65157095G>A uc001dbo.1 + 27 3628 c.3523G>A c.(3523-3525)GAT>AAT p.D1175N CACHD1_uc001dbp.1_Missense_Mutation_p.D930N|CACHD1_uc001dbq.1_Missense_Mutation_p.D930N|CACHD1_uc010opa.1_Missense_Mutation_p.D419N NM_020925 NP_065976 Q5VU97 CAHD1_HUMAN cache domain containing 1 1226 Cytoplasmic (Potential). calcium ion transport integral to membrane ovary(2) 2 GGGAAACCATGATGAGGACTT 0.522 PDE4B 5142 broad.mit.edu 37 1 66827326 66827326 + Silent SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr1:66827326T>C uc001dcn.2 + 10 1061 c.870T>C c.(868-870)TCT>TCC p.S290S PDE4B_uc009war.2_Silent_p.S198S|PDE4B_uc001dco.2_Silent_p.S290S|PDE4B_uc001dcp.2_Silent_p.S275S|PDE4B_uc001dcq.2_Silent_p.S118S|PDE4B_uc009was.2_Silent_p.S57S NM_001037341 NP_001032418 Q07343 PDE4B_HUMAN phosphodiesterase 4B isoform 1 290 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding ovary(2)|central_nervous_system(1) 3 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) AGATCCCATCTCCTACCCAGA 0.393 LRRIQ3 127255 broad.mit.edu 37 1 74621436 74621436 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr1:74621436A>C uc001dfy.3 - 4 880 c.688T>G c.(688-690)TTA>GTA p.L230V LRRIQ3_uc001dfz.3_RNA NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 230 IQ. ovary(2) 2 TTTCTAACTAAGAAACCACGT 0.259 LRRIQ3 127255 broad.mit.edu 37 1 74621467 74621467 + Silent SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr1:74621467A>C uc001dfy.3 - 4 849 c.657T>G c.(655-657)GTT>GTG p.V219V LRRIQ3_uc001dfz.3_RNA NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 219 IQ. ovary(2) 2 GAACAATCAAAACTGGTGAAT 0.269 ELTD1 64123 broad.mit.edu 37 1 79387375 79387376 + Nonsense_Mutation DNP AG AG GT TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr1:79387375_79387376AG>GT uc001diq.3 - 9 1335_1336 c.1179_1180CT>AC c.(1177-1182)TACTCA>TAACCA p.393_394YS>*P NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 393_394 GPS.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) GTCTCATTTGAGTATGTCAGCT 0.436 COL11A1 1301 broad.mit.edu 37 1 103449740 103449740 + Missense_Mutation SNP A A T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr1:103449740A>T uc001dul.2 - 31 2828 c.2510T>A c.(2509-2511)CTT>CAT p.L837H COL11A1_uc001duk.2_Missense_Mutation_p.L28M|COL11A1_uc001dum.2_Missense_Mutation_p.L849H|COL11A1_uc001dun.2_Missense_Mutation_p.L798H|COL11A1_uc009weh.2_Missense_Mutation_p.L721H NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 837 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TGGAACTCCAAGTTTTCCCTA 0.209 NTNG1 22854 broad.mit.edu 37 1 108023350 108023350 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr1:108023350A>G uc001dvh.3 + 8 2226 c.1508A>G c.(1507-1509)GAG>GGG p.E503G NTNG1_uc001dvf.3_Missense_Mutation_p.E444G|NTNG1_uc010out.1_Missense_Mutation_p.E469G|NTNG1_uc001dvc.3_Missense_Mutation_p.E402G|NTNG1_uc001dvi.2_Missense_Mutation_p.R71G|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_RNA|NTNG1_uc001dvg.2_RNA|NTNG1_uc009wem.2_Silent_p.R65R NM_001113226 NP_001106697 Q9Y2I2 NTNG1_HUMAN netrin G1 isoform 1 503 axonogenesis anchored to plasma membrane protein binding large_intestine(2)|ovary(2)|skin(2) 6 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) CTGCGGTGCGAGGAGGCTGGC 0.716 HSD3B2 3284 broad.mit.edu 37 1 119958041 119958041 + Translation_Start_Site SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr1:119958041C>T uc001ehs.2 + 1 772 c.-1C>T c.(-3-1)CACGA>CATGA HSD3B2_uc001eht.2_Translation_Start_Site|HSD3B2_uc001ehu.2_Translation_Start_Site NM_000198 NP_000189 P26439 3BHS2_HUMAN 3 beta-hydroxysteroid dehydrogenase 2 androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity ovary(2) 2 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) GGATTGGCCACGATGGGCTGG 0.542 S100A7A 338324 broad.mit.edu 37 1 153390570 153390570 + Silent SNP T T A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr1:153390570T>A uc001fbt.1 + 2 69 c.12T>A c.(10-12)ACT>ACA p.T4T NM_176823 NP_789793 Q86SG5 S1A7A_HUMAN S100 calcium binding protein A7-like 1 4 cytoplasm calcium ion binding skin(1) 1 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) TGAGCAACACTCAAGCTGAGA 0.423 KIRREL 55243 broad.mit.edu 37 1 158064484 158064484 + Silent SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr1:158064484T>C uc001frn.3 + 15 2252 c.1848T>C c.(1846-1848)TCT>TCC p.S616S KIRREL_uc010pib.1_Silent_p.S516S|KIRREL_uc009wsq.2_Silent_p.S452S|KIRREL_uc001fro.3_Silent_p.S430S|uc001frp.2_5'Flank NM_018240 NP_060710 Q96J84 KIRR1_HUMAN kin of IRRE like precursor 616 Cytoplasmic (Potential). integral to membrane ovary(1) 1 all_hematologic(112;0.0378) ACCGCCCGTCTTCCAGGGCAG 0.647 CD1D 912 broad.mit.edu 37 1 158151310 158151310 + Missense_Mutation SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr1:158151310C>T uc001frr.2 + 3 626 c.127C>T c.(127-129)CGC>TGC p.R43C CD1D_uc009wsr.1_Missense_Mutation_p.R43C|CD1D_uc009wss.2_Missense_Mutation_p.R43C|CD1D_uc009wst.1_5'UTR NM_001766 NP_001757 P15813 CD1D_HUMAN CD1D antigen precursor 43 Extracellular (Potential). antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding ovary(1) 1 all_hematologic(112;0.0378) CAGCTGGACGCGCACCGACGG 0.627 OR10T2 128360 broad.mit.edu 37 1 158368853 158368853 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr1:158368853A>G uc010pih.1 - 1 404 c.404T>C c.(403-405)CTC>CCC p.L135P NM_001004475 NP_001004475 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, 135 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_hematologic(112;0.0378) GTTTATGATGAGTGTGTACCT 0.463 SPTA1 6708 broad.mit.edu 37 1 158585082 158585082 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr1:158585082A>C uc001fst.1 - 48 6911 c.6712T>G c.(6712-6714)TTG>GTG p.L2238V NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2238 Spectrin 21. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TGCTGAGCCAATCCAATGGTG 0.537 SPTA1 6708 broad.mit.edu 37 1 158612297 158612297 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr1:158612297T>G uc001fst.1 - 33 4840 c.4641A>C c.(4639-4641)GAA>GAC p.E1547D NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1547 Spectrin 15. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) GGCCATCGACTTCATGTGCAA 0.423 LY9 4063 broad.mit.edu 37 1 160793532 160793532 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr1:160793532A>C uc001fwu.2 + 8 1826 c.1776A>C c.(1774-1776)GAA>GAC p.E592D LY9_uc001fwv.2_Missense_Mutation_p.E578D|LY9_uc001fww.2_Missense_Mutation_p.E502D|LY9_uc001fwx.2_Missense_Mutation_p.E502D|LY9_uc001fwy.1_Missense_Mutation_p.E390D|LY9_uc001fwz.2_Missense_Mutation_p.E230D NM_002348 NP_002339 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 isoform a 592 Cytoplasmic (Potential). cell adhesion|immunoglobulin mediated immune response integral to membrane ovary(1) 1 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) ATGTCACGGAAGTTGAGTCTG 0.517 HMCN1 83872 broad.mit.edu 37 1 186026528 186026528 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr1:186026528T>G uc001grq.1 + 46 7536 c.7307T>G c.(7306-7308)CTT>CGT p.L2436R NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 2436 Ig-like C2-type 22. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GTGAGGATTCTTTCAGGTATT 0.383 HMCN1 83872 broad.mit.edu 37 1 186122892 186122892 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr1:186122892A>C uc001grq.1 + 97 15258 c.15029A>C c.(15028-15030)GAG>GCG p.E5010A HMCN1_uc001grs.1_Missense_Mutation_p.E579A NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 5010 Nidogen G2 beta-barrel. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GATTACACAGAGGACTACATT 0.458 CRB1 23418 broad.mit.edu 37 1 197390846 197390846 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr1:197390846T>G uc001gtz.2 + 6 2023 c.1888T>G c.(1888-1890)TTC>GTC p.F630V CRB1_uc010poz.1_Missense_Mutation_p.F561V|CRB1_uc010ppa.1_Intron|CRB1_uc009wza.2_Missense_Mutation_p.F518V|CRB1_uc010ppb.1_Missense_Mutation_p.F630V|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.F111V|CRB1_uc001gub.1_Missense_Mutation_p.F279V NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 630 Extracellular (Potential).|Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 TCTGCTTAACTTCTATAATAT 0.418 CACNA1S 779 broad.mit.edu 37 1 201039501 201039501 + Silent SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr1:201039501C>T uc001gvv.2 - 17 2486 c.2259G>A c.(2257-2259)CCG>CCA p.P753P NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 753 Cytoplasmic (Potential). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GGGGGCTCAGCGGGATCTCAG 0.577 KCNH1 3756 broad.mit.edu 37 1 211093380 211093380 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr1:211093380A>C uc001hib.2 - 7 1234 c.1064T>G c.(1063-1065)GTT>GGT p.V355G KCNH1_uc001hic.2_Missense_Mutation_p.V328G NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 355 Helical; Voltage-sensor; Name=Segment S4; (Potential). myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) CAGCCGGACAACTTTTAGAGA 0.572 FMN2 56776 broad.mit.edu 37 1 240370433 240370433 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr1:240370433A>G uc010pyd.1 + 5 2546 c.2321A>G c.(2320-2322)GAA>GGA p.E774G FMN2_uc010pye.1_Missense_Mutation_p.E778G NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 774 Pro-rich.|FH1. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCTGGGGCTGAAAGTGGACCT 0.572 FMN2 56776 broad.mit.edu 37 1 240555835 240555835 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr1:240555835A>G uc010pyd.1 + 15 5108 c.4883A>G c.(4882-4884)GAA>GGA p.E1628G FMN2_uc010pye.1_Missense_Mutation_p.E1632G|FMN2_uc010pyf.1_Missense_Mutation_p.E243G|FMN2_uc010pyg.1_Missense_Mutation_p.E224G NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1628 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GAGGCAGAGGAAAATTCACTG 0.348 ARMC4 55130 broad.mit.edu 37 10 28270420 28270420 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr10:28270420T>G uc009xky.2 - 7 1009 c.911A>C c.(910-912)AAA>ACA p.K304T ARMC4_uc010qds.1_5'UTR|ARMC4_uc010qdt.1_5'UTR|ARMC4_uc001itz.2_Missense_Mutation_p.K304T|ARMC4_uc010qdu.1_5'UTR NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 304 binding ovary(4)|skin(2) 6 TTCTGAAAATTTTGGTGATTT 0.294 ERCC6 2074 broad.mit.edu 37 10 50681583 50681583 + Silent SNP G G C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr10:50681583G>C uc001jhs.3 - 14 2803 c.2649C>G c.(2647-2649)CTC>CTG p.L883L ERCC6_uc009xod.2_Silent_p.L43L|ERCC6_uc010qgr.1_Silent_p.L253L|ERCC6_uc001jhr.3_Silent_p.L251L NM_000124 NP_000115 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent 883 Helicase C-terminal. base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1) 16 CATCCATCTTGAGATAGGTAT 0.433 Direct_reversal_of_damage|NER PCDH15 65217 broad.mit.edu 37 10 55581742 55581742 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr10:55581742A>C uc001jju.1 - 33 6139 c.5744T>G c.(5743-5745)CTT>CGT p.L1915R PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Missense_Mutation_p.L769R|PCDH15_uc010qhv.1_Missense_Mutation_p.L1912R|PCDH15_uc010qhw.1_Missense_Mutation_p.L1875R|PCDH15_uc010qhx.1_Missense_Mutation_p.L1846R|PCDH15_uc010qhy.1_Missense_Mutation_p.L1922R|PCDH15_uc010qhz.1_Missense_Mutation_p.L1917R|PCDH15_uc010qia.1_Missense_Mutation_p.L1895R|PCDH15_uc010qib.1_Missense_Mutation_p.L1892R NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1915 Cytoplasmic (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) CATAGTTTGAAGTTCTGAAAC 0.343 HNSCC(58;0.16) NRBF2 29982 broad.mit.edu 37 10 64913946 64913946 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr10:64913946G>A uc001jmj.3 + 4 1056 c.832G>A c.(832-834)GAG>AAG p.E278K NRBF2_uc010qip.1_Missense_Mutation_p.E268K NM_030759 NP_110386 Q96F24 NRBF2_HUMAN nuclear receptor binding factor 2 278 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent cytoplasm|nucleoplasm protein binding 0 Prostate(12;0.0119)|all_hematologic(501;0.191) GGAGCTCTCTGAGGATATTCT 0.393 C10orf12 26148 broad.mit.edu 37 10 98742710 98742710 + Silent SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr10:98742710A>G uc001kmv.2 + 1 1670 c.1563A>G c.(1561-1563)CTA>CTG p.L521L NM_015652 NP_056467 Q8N655 CJ012_HUMAN hypothetical protein LOC26148 521 skin(2) 2 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) ACAGATGCCTAAGAAATCAGA 0.408 CPXM2 119587 broad.mit.edu 37 10 125506356 125506356 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr10:125506356T>G uc001lhk.1 - 14 2520 c.2195A>C c.(2194-2196)AAG>ACG p.K732T CPXM2_uc001lhj.2_Intron NM_198148 NP_937791 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 732 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) CTTCCCAAACTTCTCCATGAT 0.582 MUC5B 727897 broad.mit.edu 37 11 1284366 1284366 + Missense_Mutation SNP C C G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr11:1284366C>G uc009ycr.1 + 73 18549 c.18423C>G c.(18421-18423)TTC>TTG p.F6141L NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; Error:Variant_position_missing_in_Q9HC84_after_alignment cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GCGGGGCCTTCCCCACACCGG 0.652 IGF2 3481 broad.mit.edu 37 11 2154862 2154862 + Missense_Mutation SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr11:2154862C>T uc009yde.2 - 3 294 c.191G>A c.(190-192)CGT>CAT p.R64H IGF2_uc001lvf.2_RNA|IGF2_uc001lvg.2_Missense_Mutation_p.R64H|IGF2_uc009ydf.2_Missense_Mutation_p.R120H|IGF2_uc001lvh.2_Missense_Mutation_p.R64H|INS-IGF2_uc001lvi.2_RNA NM_001007139 NP_001007140 P01344 IGF2_HUMAN insulin-like growth factor 2 isoform 1 64 C. glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development extracellular space growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity central_nervous_system(1) 1 all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029) BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) AACGATGCCACGGCTGCGACG 0.657 OR52A1 23538 broad.mit.edu 37 11 5172765 5172765 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr11:5172765A>G uc010qyy.1 - 1 835 c.835T>C c.(835-837)TTT>CTT p.F279L NM_012375 NP_036507 Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, 279 Helical; Name=7; (Potential). sensory perception of smell integral to plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATGCTAGAAAAGAGAATATGG 0.433 HBD 3045 broad.mit.edu 37 11 5255610 5255610 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr11:5255610T>G uc001maf.1 - 1 249 c.54A>C c.(52-54)AAA>AAC p.K18N NM_000519 NP_000510 P02042 HBD_HUMAN delta globin 18 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCACGTTCACTTTGCCCCACA 0.502 OR52N5 390075 broad.mit.edu 37 11 5799454 5799454 + Nonsense_Mutation SNP G G C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr11:5799454G>C uc010qzn.1 - 1 411 c.411C>G c.(409-411)TAC>TAG p.Y137* TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001001922 NP_001001922 Q8NH56 O52N5_HUMAN olfactory receptor, family 52, subfamily N, 137 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) AACGCAAAGGGTAGCAAATGG 0.507 NAV2 89797 broad.mit.edu 37 11 20066813 20066813 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr11:20066813T>G uc010rdm.1 + 15 3929 c.3568T>G c.(3568-3570)TCA>GCA p.S1190A NAV2_uc001mpp.2_Missense_Mutation_p.S1103A|NAV2_uc001mpr.3_Missense_Mutation_p.S1167A|NAV2_uc001mpt.2_Missense_Mutation_p.S253A|NAV2_uc009yhx.2_Missense_Mutation_p.S253A|NAV2_uc009yhy.1_Missense_Mutation_p.S166A NM_145117 NP_660093 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 2 1190 nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 TGGTCGGAAGTCAAGTATGGA 0.557 OR4A47 403253 broad.mit.edu 37 11 48510658 48510658 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr11:48510658T>C uc010rhx.1 + 1 314 c.314T>C c.(313-315)TTC>TCC p.F105S NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, 105 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GAGCACATTTTCGGTGGGTCA 0.453 OR5L2 26338 broad.mit.edu 37 11 55595086 55595086 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr11:55595086T>C uc001nhy.1 + 1 392 c.392T>C c.(391-393)CTG>CCG p.L131P NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 131 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) AACCCCCTGCTGTACATGGTG 0.522 HNSCC(27;0.073) OR5L2 26338 broad.mit.edu 37 11 55595254 55595254 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr11:55595254T>G uc001nhy.1 + 1 560 c.560T>G c.(559-561)CTT>CGT p.L187R NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 187 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) CTCCTAAGTCTTGCTTGCTCT 0.453 HNSCC(27;0.073) CTNND1 1500 broad.mit.edu 37 11 57577603 57577603 + Nonsense_Mutation SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr11:57577603C>T uc001nmc.3 + 16 3029 c.2458C>T c.(2458-2460)CGA>TGA p.R820* CTNND1_uc001nlh.1_Nonsense_Mutation_p.R820*|CTNND1_uc001nlu.3_Nonsense_Mutation_p.R713*|CTNND1_uc001nlt.3_Nonsense_Mutation_p.R713*|CTNND1_uc001nls.3_Nonsense_Mutation_p.R713*|CTNND1_uc001nlw.3_Nonsense_Mutation_p.R713*|CTNND1_uc001nmf.3_Nonsense_Mutation_p.R820*|CTNND1_uc001nmd.3_Nonsense_Mutation_p.R766*|CTNND1_uc001nlk.3_Nonsense_Mutation_p.R766*|CTNND1_uc001nme.3_Nonsense_Mutation_p.R814*|CTNND1_uc001nll.3_Nonsense_Mutation_p.R760*|CTNND1_uc001nmg.3_Nonsense_Mutation_p.R760*|CTNND1_uc001nlj.3_Nonsense_Mutation_p.R760*|CTNND1_uc001nlr.3_Nonsense_Mutation_p.R760*|CTNND1_uc001nlp.3_Nonsense_Mutation_p.R760*|CTNND1_uc001nlx.3_Nonsense_Mutation_p.R497*|CTNND1_uc001nlz.3_Nonsense_Mutation_p.R497*|CTNND1_uc009ymn.2_Nonsense_Mutation_p.R491*|CTNND1_uc001nlm.3_Nonsense_Mutation_p.R814*|CTNND1_uc001nly.3_Nonsense_Mutation_p.R491*|CTNND1_uc001nmb.3_Nonsense_Mutation_p.R491*|CTNND1_uc001nma.3_Nonsense_Mutation_p.R491*|CTNND1_uc001nmi.3_Nonsense_Mutation_p.R719*|CTNND1_uc001nmh.3_Nonsense_Mutation_p.R814*|CTNND1_uc001nlq.3_Nonsense_Mutation_p.R719*|CTNND1_uc001nln.3_Nonsense_Mutation_p.R814*|CTNND1_uc001nli.3_Nonsense_Mutation_p.R814*|CTNND1_uc001nlo.3_Nonsense_Mutation_p.R713*|CTNND1_uc001nlv.3_Nonsense_Mutation_p.R713* NM_001085458 NP_001078927 O60716 CTND1_HUMAN catenin, delta 1 isoform 1ABC 820 ARM 10. adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(4)|ovary(1)|kidney(1) 6 all_epithelial(135;0.155) AAAAGAAGTTCGAGCAGCAGC 0.398 MPEG1 219972 broad.mit.edu 37 11 58979956 58979956 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr11:58979956T>C uc001nnu.3 - 1 539 c.383A>G c.(382-384)AAG>AGG p.K128R NM_001039396 NP_001034485 Q2M385 MPEG1_HUMAN macrophage expressed gene 1 precursor 128 MACPF.|Extracellular (Potential). integral to membrane ovary(1)|skin(1) 2 all_epithelial(135;0.125) AGTGGAAAACTTGCCATTGAC 0.448 MTA2 9219 broad.mit.edu 37 11 62365105 62365105 + Silent SNP G G A rs141754862 TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr11:62365105G>A uc001ntq.1 - 7 951 c.570C>T c.(568-570)ATC>ATT p.I190I MTA2_uc010rlx.1_Silent_p.I17I NM_004739 NP_004730 O94776 MTA2_HUMAN metastasis-associated protein 2 190 ELM2. chromatin assembly or disassembly NuRD complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 GAAACTGGTCGATCTGCCGGT 0.542 DDI1 414301 broad.mit.edu 37 11 103908695 103908695 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr11:103908695A>C uc001phr.2 + 1 1388 c.1145A>C c.(1144-1146)AAG>ACG p.K382T PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron NM_001001711 NP_001001711 Q8WTU0 DDI1_HUMAN DDI1, DNA-damage inducible 1, homolog 1 382 proteolysis aspartic-type endopeptidase activity large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) TCTTCGGACAAGGAAATTACA 0.473 ZNF259 8882 broad.mit.edu 37 11 116653713 116653713 + Silent SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr11:116653713T>C uc001ppp.2 - 11 1047 c.1014A>G c.(1012-1014)CTA>CTG p.L338L ZNF259_uc009yzd.2_Silent_p.L338L|ZNF259_uc001ppq.2_Silent_p.L268L NM_003904 NP_003895 O75312 ZPR1_HUMAN zinc finger protein 259 338 cell proliferation|signal transduction cytoplasm|nucleolus 0 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153) GTTCAAATTCTAGCTCTGGGA 0.502 ZNF259 8882 broad.mit.edu 37 11 116653717 116653717 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr11:116653717T>C uc001ppp.2 - 11 1043 c.1010A>G c.(1009-1011)GAG>GGG p.E337G ZNF259_uc009yzd.2_Missense_Mutation_p.E337G|ZNF259_uc001ppq.2_Missense_Mutation_p.E267G NM_003904 NP_003895 O75312 ZPR1_HUMAN zinc finger protein 259 337 cell proliferation|signal transduction cytoplasm|nucleolus 0 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153) AAATTCTAGCTCTGGGATTTC 0.498 DSCAML1 57453 broad.mit.edu 37 11 117332257 117332257 + Silent SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr11:117332257G>A uc001prh.1 - 18 3503 c.3501C>T c.(3499-3501)GCC>GCT p.A1167A NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1107 Fibronectin type-III 3.|Extracellular (Potential). axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) AGGAGATGACGGCCACGTCAG 0.617 OR4D5 219875 broad.mit.edu 37 11 123810958 123810958 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr11:123810958T>C uc001pzk.1 + 1 635 c.635T>C c.(634-636)CTG>CCG p.L212P NM_001001965 NP_001001965 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, 212 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) ATGTGTTTTCTGGTGCTTCTG 0.522 OR10G9 219870 broad.mit.edu 37 11 123894603 123894603 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr11:123894603A>C uc010sad.1 + 1 884 c.884A>C c.(883-885)AAG>ACG p.K295T NM_001001953 NP_001001953 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, 295 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) AAGGAGGTGAAGAAAGCTGTG 0.423 ROBO4 54538 broad.mit.edu 37 11 124756666 124756666 + Missense_Mutation SNP A A T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr11:124756666A>T uc001qbg.2 - 16 2628 c.2488T>A c.(2488-2490)TAC>AAC p.Y830N ROBO4_uc010sas.1_Missense_Mutation_p.Y685N|ROBO4_uc001qbh.2_3'UTR|ROBO4_uc001qbi.2_Missense_Mutation_p.Y388N NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 830 angiogenesis|cell differentiation integral to membrane receptor activity ovary(1)|skin(1) 2 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) ACGCTGATGTACCCATAGGTG 0.622 JAM3 83700 broad.mit.edu 37 11 134010576 134010576 + Missense_Mutation SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr11:134010576C>T uc001qhb.1 + 3 326 c.302C>T c.(301-303)ACG>ATG p.T101M JAM3_uc009zcz.1_Missense_Mutation_p.T101M NM_032801 NP_116190 Q9BX67 JAM3_HUMAN junctional adhesion molecule 3 precursor 56 Extracellular (Potential).|Ig-like V-type. angiogenesis|blood coagulation|regulation of neutrophil chemotaxis cell-cell contact zone|desmosome|extracellular space|integral to membrane integrin binding ovary(1) 1 all_hematologic(175;0.127) all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566) Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245) TGCATCATTACGGATTCGCAG 0.448 CLEC12A 160364 broad.mit.edu 37 12 10124213 10124213 + Silent SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr12:10124213T>G uc001qwr.3 + 1 206 c.18T>G c.(16-18)ACT>ACG p.T6T CLEC12A_uc001qwq.2_Silent_p.T16T|CLEC12A_uc001qws.3_Silent_p.T6T|CLEC12A_uc001qwt.2_5'UTR NM_138337 NP_612210 Q5QGZ9 CL12A_HUMAN myeloid inhibitory C-type lectin-like receptor 6 Cytoplasmic (Potential).|ITIM motif. integral to membrane|plasma membrane receptor activity|sugar binding skin(1) 1 AAGAAGTTACTTATGCAGATC 0.343 GSG1 83445 broad.mit.edu 37 12 13240138 13240138 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr12:13240138A>C uc001rbn.2 - 6 867 c.694T>G c.(694-696)TTG>GTG p.L232V GSG1_uc001rbj.2_Missense_Mutation_p.L196V|GSG1_uc001rbk.2_Missense_Mutation_p.L237R|GSG1_uc001rbl.2_Missense_Mutation_p.L168V|GSG1_uc001rbm.2_Missense_Mutation_p.L145V|GSG1_uc001rbo.2_Missense_Mutation_p.L273R|GSG1_uc001rbp.2_Missense_Mutation_p.L209V|GSG1_uc001rbq.1_Missense_Mutation_p.L273R NM_001080555 NP_001074024 Q2KHT4 GSG1_HUMAN germ cell associated 1 isoform 4 219 endoplasmic reticulum membrane|integral to membrane 0 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) TCTGGACCCAAGTTGACAGTC 0.512 RERG 85004 broad.mit.edu 37 12 15262280 15262280 + Silent SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr12:15262280A>G uc001rcs.2 - 4 504 c.364T>C c.(364-366)TTG>CTG p.L122L RERG_uc001rct.2_Silent_p.L122L|RERG_uc010shu.1_Silent_p.L103L NM_032918 NP_116307 Q96A58 RERG_HUMAN RAS-like, estrogen-regulated, growth inhibitor 122 negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction cytosol|membrane|nucleus estrogen receptor binding|GDP binding|GTP binding|GTPase activity lung(1) 1 GAGTGGTCCAAGTCAGCTTTG 0.483 OVCH1 341350 broad.mit.edu 37 12 29644030 29644030 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr12:29644030T>G uc001rix.1 - 5 550 c.550A>C c.(550-552)ACA>CCA p.T184P NM_183378 NP_899234 Q7RTY7 OVCH1_HUMAN ovochymase 1 precursor 184 Peptidase S1 1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1) 10 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) TGTCTCTTACTTTTGGAAATC 0.398 NEUROD4 58158 broad.mit.edu 37 12 55420426 55420426 + Missense_Mutation SNP A A G rs76064726 by1000genomes TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr12:55420426A>G uc001sgp.3 + 2 581 c.203A>G c.(202-204)AAG>AGG p.K68R NM_021191 NP_067014 Q9HD90 NDF4_HUMAN neurogenic differentiation 4 68 K -> T. amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 GAGAAACCTAAGAGAAGGGGT 0.433 C12orf63 374467 broad.mit.edu 37 12 97085072 97085072 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr12:97085072T>G uc001tet.1 + 11 1601 c.1523T>G c.(1522-1524)GTT>GGT p.V508G NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 508 skin(6)|ovary(1) 7 CTGCACTTTGTTAGGCAAAAC 0.333 C12orf63 374467 broad.mit.edu 37 12 97158013 97158013 + Silent SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr12:97158013A>C uc001tet.1 + 26 3478 c.3400A>C c.(3400-3402)AGA>CGA p.R1134R NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 1134 skin(6)|ovary(1) 7 GATTGCAATAAGAGCTGCTGC 0.343 FAM71C 196472 broad.mit.edu 37 12 100043118 100043118 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr12:100043118T>G uc001tgn.2 + 2 1090 c.668T>G c.(667-669)CTT>CGT p.L223R ANKS1B_uc001tge.1_Intron|ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Intron NM_153364 NP_699195 Q8NEG0 FA71C_HUMAN hypothetical protein LOC196472 223 0 OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19) ATCAGTAGACTTCACATGAAT 0.398 BTBD11 121551 broad.mit.edu 37 12 108045467 108045467 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr12:108045467A>C uc001tmk.1 + 16 3529 c.3008A>C c.(3007-3009)AAG>ACG p.K1003T BTBD11_uc001tml.1_Missense_Mutation_p.K540T|BTBD11_uc001tmm.1_Missense_Mutation_p.K82T NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 isoform a 1003 integral to membrane DNA binding skin(2)|ovary(1) 3 TCTGCTGCTAAGTTTTTCCAG 0.438 CCDC63 160762 broad.mit.edu 37 12 111342574 111342574 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr12:111342574T>G uc001trv.1 + 11 1720 c.1525T>G c.(1525-1527)TTC>GTC p.F509V CCDC63_uc010sye.1_Missense_Mutation_p.F469V|CCDC63_uc001trw.1_Missense_Mutation_p.F424V NM_152591 NP_689804 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 509 skin(6)|ovary(1)|pancreas(1) 8 GGCTGACCCCTTCAGCGACAG 0.597 RBM19 9904 broad.mit.edu 37 12 114395629 114395629 + Silent SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr12:114395629C>T uc009zwi.2 - 6 942 c.798G>A c.(796-798)GGG>GGA p.G266G RBM19_uc001tvn.3_Silent_p.G266G|RBM19_uc001tvm.2_Silent_p.G266G NM_001146699 NP_001140171 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 266 multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding skin(3)|ovary(1)|liver(1)|central_nervous_system(1) 6 Medulloblastoma(191;0.163)|all_neural(191;0.178) CAGCTGGCATCCCTTGCTCTT 0.627 MED13L 23389 broad.mit.edu 37 12 116457702 116457702 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr12:116457702T>G uc001tvw.2 - 6 756 c.701A>C c.(700-702)AAG>ACG p.K234T NM_015335 NP_056150 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 234 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 8 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) CTCAATCAACTTACGAGTGGC 0.443 TMEM132D 121256 broad.mit.edu 37 12 129558890 129558890 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr12:129558890T>G uc009zyl.1 - 9 3158 c.2830A>C c.(2830-2832)AAA>CAA p.K944Q TMEM132D_uc001uia.2_Missense_Mutation_p.K482Q NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 944 Cytoplasmic (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TGTCTGTATTTTAATGCAAAG 0.458 TPTE2 93492 broad.mit.edu 37 13 20041386 20041386 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr13:20041386T>G uc001umd.2 - 8 702 c.491A>C c.(490-492)AAG>ACG p.K164T TPTE2_uc009zzk.2_Intron|TPTE2_uc009zzl.2_Intron|TPTE2_uc001ume.2_Intron|TPTE2_uc009zzm.2_Intron|TPTE2_uc010tcm.1_RNA NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN TPTE and PTEN homologous inositol lipid 164 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) CCTAAGCAACTTAATGTCAAA 0.303 SACS 26278 broad.mit.edu 37 13 23908498 23908498 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr13:23908498A>C uc001uon.2 - 10 10106 c.9517T>G c.(9517-9519)TTT>GTT p.F3173V SACS_uc001uoo.2_Missense_Mutation_p.F3026V|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 3173 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) GTTGTTAGAAACTTGGGTCGT 0.328 SACS 26278 broad.mit.edu 37 13 23908500 23908500 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr13:23908500T>G uc001uon.2 - 10 10104 c.9515A>C c.(9514-9516)AAG>ACG p.K3172T SACS_uc001uoo.2_Missense_Mutation_p.K3025T|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 3172 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TGTTAGAAACTTGGGTCGTTT 0.323 RNF17 56163 broad.mit.edu 37 13 25367370 25367370 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr13:25367370T>G uc001upr.2 + 10 1167 c.1126T>G c.(1126-1128)TTC>GTC p.F376V RNF17_uc010tdd.1_Missense_Mutation_p.F235V|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.F376V|RNF17_uc001ups.2_Missense_Mutation_p.F315V|RNF17_uc001upq.1_Missense_Mutation_p.F376V NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 376 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) AGCAAAAAACTTCCAGCCACA 0.418 ATP8A2 51761 broad.mit.edu 37 13 26436488 26436488 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr13:26436488T>C uc001uqk.2 + 33 3267 c.3125T>C c.(3124-3126)TTT>TCT p.F1042S ATP8A2_uc010tdi.1_Missense_Mutation_p.F977S|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.F592S NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 1002 Helical; (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) CTGGTGTTTTTTGGCATCTAC 0.517 FLT1 2321 broad.mit.edu 37 13 28959121 28959121 + Missense_Mutation SNP C C T rs137937570 TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr13:28959121C>T uc001usb.3 - 14 2302 c.2017G>A c.(2017-2019)GCC>ACC p.A673T FLT1_uc010aar.1_Missense_Mutation_p.A673T NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 673 Ig-like C2-type 7.|Extracellular (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) CTGCTGATGGCCACTGTGTGA 0.448 NBEA 26960 broad.mit.edu 37 13 35758142 35758142 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr13:35758142A>G uc001uvb.2 + 30 5067 c.4861A>G c.(4861-4863)AGT>GGT p.S1621G NBEA_uc010abi.2_Intron NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 1621 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) CCCTCATCCAAGTTTGAACCA 0.443 POSTN 10631 broad.mit.edu 37 13 38160293 38160293 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr13:38160293T>C uc001uwo.3 - 7 996 c.878A>G c.(877-879)GAC>GGC p.D293G POSTN_uc001uwp.3_Missense_Mutation_p.D293G|POSTN_uc001uwr.2_Missense_Mutation_p.D293G|POSTN_uc001uwq.2_Missense_Mutation_p.D293G|POSTN_uc010teu.1_Missense_Mutation_p.D293G|POSTN_uc010tev.1_Missense_Mutation_p.D293G|POSTN_uc010tew.1_Missense_Mutation_p.D293G|POSTN_uc010tex.1_Missense_Mutation_p.D208G NM_006475 NP_006466 Q15063 POSTN_HUMAN periostin, osteoblast specific factor isoform 1 293 FAS1 2. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding ovary(2) 2 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) AGCCACTTTGTCTCCCATGAT 0.453 POSTN 10631 broad.mit.edu 37 13 38162024 38162024 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr13:38162024T>G uc001uwo.3 - 5 659 c.541A>C c.(541-543)AAT>CAT p.N181H POSTN_uc001uwp.3_Missense_Mutation_p.N181H|POSTN_uc001uwr.2_Missense_Mutation_p.N181H|POSTN_uc001uwq.2_Missense_Mutation_p.N181H|POSTN_uc010teu.1_Missense_Mutation_p.N181H|POSTN_uc010tev.1_Missense_Mutation_p.N181H|POSTN_uc010tew.1_Missense_Mutation_p.N181H|POSTN_uc010tex.1_Missense_Mutation_p.N96H NM_006475 NP_006466 Q15063 POSTN_HUMAN periostin, osteoblast specific factor isoform 1 181 FAS1 1. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding ovary(2) 2 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) ATCATGCCATTTTTTAAGTCC 0.328 LCP1 3936 broad.mit.edu 37 13 46732680 46732680 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr13:46732680A>C uc001vaz.3 - 4 461 c.335T>G c.(334-336)GTT>GGT p.V112G LCP1_uc001vba.3_Missense_Mutation_p.V112G NM_002298 NP_002289 P13796 PLSL_HUMAN L-plastin 112 Actin-binding 1. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding lung(4)|ovary(3) 7 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) TTGGGTGCCAACGCTAGACTG 0.443 T BCL6 NHL C13orf18 80183 broad.mit.edu 37 13 46917551 46917551 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr13:46917551A>C uc010acl.2 - 15 2563 c.1958T>G c.(1957-1959)CTT>CGT p.L653R C13orf18_uc010tfy.1_Missense_Mutation_p.L176R|C13orf18_uc001vbf.3_Missense_Mutation_p.L586R|C13orf18_uc001vbg.3_Missense_Mutation_p.L381R|C13orf18_uc010tfz.1_Missense_Mutation_p.L496R|C13orf18_uc010acm.2_Missense_Mutation_p.L518R|C13orf18_uc010acn.2_Missense_Mutation_p.L438R|C13orf18_uc001vbe.3_Missense_Mutation_p.F602V|C13orf18_uc001vbh.3_Missense_Mutation_p.L653R|C13orf18_uc001vbi.3_Missense_Mutation_p.L496R NM_025113 NP_079389 Q9H714 CM018_HUMAN hypothetical protein LOC80183 653 0 Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;2.19e-05) ACTTTCCAGAAGTTTTCTCCT 0.502 HTR2A 3356 broad.mit.edu 37 13 47409690 47409690 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr13:47409690T>G uc001vbq.2 - 3 832 c.698A>C c.(697-699)AAC>ACC p.N233T HTR2A_uc001vbr.2_Missense_Mutation_p.N133T|HTR2A_uc010acr.2_Missense_Mutation_p.N233T NM_000621 NP_000612 P28223 5HT2A_HUMAN 5-hydroxytryptamine receptor 2A isoform 1 233 Extracellular (By similarity). ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) CAGGACAAAGTTATCATCGGC 0.433 UTP14C 9724 broad.mit.edu 37 13 52604528 52604528 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr13:52604528G>A uc001vgb.2 + 2 2123 c.1588G>A c.(1588-1590)GTG>ATG p.V530M UTP14C_uc001vgc.2_RNA NM_021645 NP_067677 Q5TAP6 UT14C_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, 530 cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis nucleolus|small-subunit processome ovary(3)|large_intestine(1)|breast(1) 5 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.3e-08) TCCCAGACCTGTGTTAGAAGG 0.463 EDNRB 1910 broad.mit.edu 37 13 78477428 78477428 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr13:78477428T>G uc001vko.2 - 3 922 c.664A>C c.(664-666)ATT>CTT p.I222L EDNRB_uc001vkq.1_Missense_Mutation_p.I222L|uc001vkn.1_Intron|EDNRB_uc010aez.1_Missense_Mutation_p.I222L|EDNRB_uc001vkp.1_Missense_Mutation_p.I305L NM_001122659 NP_001116131 P24530 EDNRB_HUMAN endothelin receptor type B isoform 1 precursor 222 Helical; Name=4; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding 0 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) ATCAAAACAATTTCTACTGCT 0.383 EDNRB 1910 broad.mit.edu 37 13 78492671 78492671 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr13:78492671A>C uc001vko.2 - 1 296 c.38T>G c.(37-39)GTT>GGT p.V13G uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Missense_Mutation_p.V13G|EDNRB_uc010aez.1_Missense_Mutation_p.V13G|EDNRB_uc001vkp.1_Missense_Mutation_p.V96G|EDNRB_uc010afa.1_Missense_Mutation_p.V13G NM_001122659 NP_001116131 P24530 EDNRB_HUMAN endothelin receptor type B isoform 1 precursor 13 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding 0 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) AACCAGCGCAACCAGGGCGCG 0.637 OREG0022452 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SLITRK5 26050 broad.mit.edu 37 13 88328833 88328833 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr13:88328833A>C uc001vln.2 + 2 1409 c.1190A>C c.(1189-1191)AAG>ACG p.K397T SLITRK5_uc010tic.1_Missense_Mutation_p.K156T NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 397 Extracellular (Potential).|LRRNT. integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) CAGGAGCGAAAGATCGAGAGC 0.537 GPC6 10082 broad.mit.edu 37 13 94197663 94197663 + Missense_Mutation SNP A A T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr13:94197663A>T uc001vlt.2 + 2 940 c.308A>T c.(307-309)AAG>ATG p.K103M GPC6_uc010tig.1_Missense_Mutation_p.K103M|GPC6_uc001vlu.1_Missense_Mutation_p.K33M NM_005708 NP_005699 Q9Y625 GPC6_HUMAN glypican 6 precursor 103 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) TCCAGGCATAAGAAATTTGAC 0.353 GPC6 10082 broad.mit.edu 37 13 94680041 94680041 + Missense_Mutation SNP G G C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr13:94680041G>C uc001vlt.2 + 4 1402 c.770G>C c.(769-771)TGT>TCT p.C257S GPC6_uc010tig.1_Missense_Mutation_p.C257S NM_005708 NP_005699 Q9Y625 GPC6_HUMAN glypican 6 precursor 257 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) TGCCCATACTGTCGGGGGCTT 0.498 OR4K17 390436 broad.mit.edu 37 14 20586335 20586335 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr14:20586335A>G uc001vwo.1 + 1 770 c.770A>G c.(769-771)AAG>AGG p.K257R NM_001004715 NP_001004715 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, 229 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3) 3 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) ATAACCATTAAGAACCACTCT 0.418 NOVA1 4857 broad.mit.edu 37 14 26917982 26917982 + Missense_Mutation SNP A A C rs144207941 TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr14:26917982A>C uc001wpy.2 - 5 1025 c.707T>G c.(706-708)CTT>CGT p.L236R NOVA1_uc001wpz.2_Missense_Mutation_p.L212R|NOVA1_uc001wqa.2_Missense_Mutation_p.L114R NM_002515 NP_002506 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 isoform 1 239 KH 2. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1) 5 GBM - Glioblastoma multiforme(265;0.0135) CTGGATGATAAGTTCAACAGC 0.468 AKAP6 9472 broad.mit.edu 37 14 33293936 33293936 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr14:33293936T>G uc001wrq.2 + 13 7087 c.6917T>G c.(6916-6918)CTT>CGT p.L2306R NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 2306 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GAAGAAAATCTTCTAAACCTT 0.428 TRIM9 114088 broad.mit.edu 37 14 51467557 51467557 + Silent SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr14:51467557A>C uc001wyx.3 - 6 2073 c.1308T>G c.(1306-1308)GCT>GCG p.A436A TRIM9_uc001wyy.2_Intron|TRIM9_uc001wyz.3_Silent_p.A436A NM_015163 NP_055978 Q9C026 TRIM9_HUMAN tripartite motif protein 9 isoform 1 436 proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding skin(2)|lung(1) 3 all_epithelial(31;0.00418)|Breast(41;0.148) CTGGAGAGGAAGCTAAACAGA 0.478 PELI2 57161 broad.mit.edu 37 14 56755305 56755305 + Missense_Mutation SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr14:56755305C>T uc001xch.2 + 4 746 c.460C>T c.(460-462)CGG>TGG p.R154W NM_021255 NP_067078 Q9HAT8 PELI2_HUMAN pellino 2 154 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding ovary(1) 1 TTACACAGCACGGATATTCGC 0.463 ZFYVE26 23503 broad.mit.edu 37 14 68241785 68241785 + Silent SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr14:68241785G>A uc001xka.2 - 27 5407 c.5268C>T c.(5266-5268)CCC>CCT p.P1756P ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Silent_p.P1756P NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1756 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) GGAGGGTCTCGGGATCTGCAG 0.438 RGS6 9628 broad.mit.edu 37 14 72944985 72944985 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr14:72944985T>G uc001xna.3 + 12 1325 c.802T>G c.(802-804)TTG>GTG p.L268V RGS6_uc010ttn.1_Missense_Mutation_p.L268V|RGS6_uc001xmx.3_Missense_Mutation_p.L268V|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.L268V|RGS6_uc010ttp.1_Missense_Mutation_p.L199V|RGS6_uc001xmz.1_Missense_Mutation_p.L129V NM_004296 NP_004287 P49758 RGS6_HUMAN regulator of G-protein signalling 6 268 G protein gamma. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity upper_aerodigestive_tract(1)|lung(1)|skin(1) 3 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) GATAACATTTTTGAACGCACA 0.353 ATP10A 57194 broad.mit.edu 37 15 25958965 25958965 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr15:25958965A>C uc010ayu.2 - 10 2306 c.2200T>G c.(2200-2202)TTC>GTC p.F734V NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 734 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) AGGAGCTCGAAGGTGAGCCTG 0.612 MAPKBP1 23005 broad.mit.edu 37 15 42116181 42116181 + Silent SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr15:42116181T>C uc001zok.3 + 30 4439 c.4153T>C c.(4153-4155)TTG>CTG p.L1385L MAPKBP1_uc001zoj.3_Silent_p.L1379L|MAPKBP1_uc010bcj.2_Silent_p.L886L|MAPKBP1_uc010bci.2_Intron|MAPKBP1_uc010udb.1_Silent_p.L1218L|MAPKBP1_uc010bck.2_Silent_p.L596L|MAPKBP1_uc010bcl.2_Silent_p.L886L NM_001128608 NP_001122080 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1385 central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 10 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) CCCTGAAAACTTGCAGCCCCC 0.637 NEDD4 4734 broad.mit.edu 37 15 56152694 56152694 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr15:56152694A>C uc002adj.2 - 7 2428 c.2128T>G c.(2128-2130)TTG>GTG p.L710V NEDD4_uc002adl.2_Missense_Mutation_p.L291V|NEDD4_uc002adi.2_Missense_Mutation_p.L638V|NEDD4_uc010ugj.1_Missense_Mutation_p.L694V|NEDD4_uc010bfm.2_Missense_Mutation_p.L693V|NEDD4_uc002adk.2_RNA NM_198400 NP_006145 P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally 710 Mediates interaction with TNIK (By similarity). development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity skin(2)|ovary(1)|breast(1) 4 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) GGAACATCCAAGTTACTTGAC 0.443 TM6SF1 53346 broad.mit.edu 37 15 83790679 83790679 + Silent SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr15:83790679T>G uc002bjp.2 + 5 514 c.405T>G c.(403-405)ACT>ACG p.T135T TM6SF1_uc010bmq.2_Silent_p.T135T|TM6SF1_uc002bjq.2_Silent_p.T135T|TM6SF1_uc010bmr.2_Intron|TM6SF1_uc002bjr.2_5'UTR NM_023003 NP_075379 Q9BZW5 TM6S1_HUMAN transmembrane 6 superfamily member 1 isoform 1 135 integral to membrane ovary(1) 1 ACAGGGAAACTTATAGAACCA 0.299 ADAMTSL3 57188 broad.mit.edu 37 15 84582078 84582078 + Silent SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr15:84582078T>G uc002bjz.3 + 16 2159 c.1935T>G c.(1933-1935)ACT>ACG p.T645T ADAMTSL3_uc010bmt.1_Silent_p.T645T|ADAMTSL3_uc010bmu.1_Silent_p.T645T NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 645 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) GTGAGACGACTTACGACTGGG 0.567 ADAMTSL3 57188 broad.mit.edu 37 15 84651194 84651194 + Silent SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr15:84651194A>C uc002bjz.3 + 21 3038 c.2814A>C c.(2812-2814)CGA>CGC p.R938R ADAMTSL3_uc010bmt.1_Silent_p.R938R|ADAMTSL3_uc010bmu.1_Silent_p.R938R NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 938 Ig-like C2-type 1. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) CCGTGCGACGATTCCAGAAAT 0.498 AGBL1 123624 broad.mit.edu 37 15 87089239 87089239 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr15:87089239T>C uc002blz.1 + 19 2634 c.2554T>C c.(2554-2556)TGT>CGT p.C852R NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 852 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 GTAGGTTTTCTGTGACTTCCA 0.433 CLDN9 9080 broad.mit.edu 37 16 3063438 3063438 + Silent SNP C C T rs137924866 TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr16:3063438C>T uc010uwo.1 + 1 982 c.75C>T c.(73-75)TGC>TGT p.C25C NM_020982 NP_066192 O95484 CLD9_HUMAN claudin 9 25 Helical; (Potential). calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity 0 TGGTGTCCTGCGCCCTGCCCC 0.652 CREBBP 1387 broad.mit.edu 37 16 3779644 3779644 + Missense_Mutation SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr16:3779644C>T uc002cvv.2 - 31 5608 c.5404G>A c.(5404-5406)GTG>ATG p.V1802M CREBBP_uc002cvw.2_Missense_Mutation_p.V1764M NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1802 TAZ-type 2.|Interaction with TRERF1. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GTGTGCTGCACCACCCGCTTC 0.647 T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome DNAH3 55567 broad.mit.edu 37 16 20998712 20998712 + Missense_Mutation SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr16:20998712C>T uc010vbe.1 - 47 6941 c.6941G>A c.(6940-6942)CGT>CAT p.R2314H DNAH3_uc010vbd.1_5'Flank NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2314 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) GTCAATCAGACGATCATAGAA 0.413 NUP93 9688 broad.mit.edu 37 16 56832411 56832411 + Silent SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr16:56832411C>T uc002eka.2 + 4 442 c.321C>T c.(319-321)GAC>GAT p.D107D NUP93_uc002ekb.2_5'UTR|NUP93_uc010vhi.1_5'UTR NM_014669 NP_055484 Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 107 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(1)|lung(1) 2 ATGAGAAGGACAATGCCCTGC 0.358 CCDC135 84229 broad.mit.edu 37 16 57760055 57760055 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr16:57760055G>A uc002emi.2 + 13 1923 c.1834G>A c.(1834-1836)GCG>ACG p.A612T CCDC135_uc002emj.2_Missense_Mutation_p.A612T|CCDC135_uc002emk.2_Missense_Mutation_p.A547T NM_032269 NP_115645 Q8IY82 CC135_HUMAN coiled-coil domain containing 135 612 cytoplasm central_nervous_system(1) 1 GTTTCTGGTCGCGGAGGAGCG 0.632 HYDIN 54768 broad.mit.edu 37 16 71015346 71015346 + Silent SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr16:71015346G>A uc002ezr.2 - 29 4583 c.4455C>T c.(4453-4455)AGC>AGT p.S1485S NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 1486 ovary(1)|skin(1) 2 Ovarian(137;0.0654) TTCCCTCTCCGCTCAGAGTGA 0.478 OR3A1 4994 broad.mit.edu 37 17 3195720 3195720 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr17:3195720A>C uc002fvh.1 - 1 157 c.157T>G c.(157-159)TTG>GTG p.L53V NM_002550 NP_002541 P47881 OR3A1_HUMAN olfactory receptor, family 3, subfamily A, 53 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|central_nervous_system(1) 3 GGCTCCACCAAGACAGCTGCC 0.567 NLRP1 22861 broad.mit.edu 37 17 5463142 5463142 + Missense_Mutation SNP G G T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr17:5463142G>T uc002gci.2 - 4 1429 c.874C>A c.(874-876)CAA>AAA p.Q292K NLRP1_uc002gcg.1_Missense_Mutation_p.Q292K|NLRP1_uc002gck.2_Missense_Mutation_p.Q292K|NLRP1_uc002gcj.2_Missense_Mutation_p.Q292K|NLRP1_uc002gcl.2_Missense_Mutation_p.Q292K|NLRP1_uc002gch.3_Missense_Mutation_p.Q292K|NLRP1_uc010clh.2_Missense_Mutation_p.Q292K NM_033004 NP_127497 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 isoform 1 292 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 9 Colorectal(1115;3.48e-05) AGGGGATCTTGGCTTCTGGGG 0.473 C17orf59 54785 broad.mit.edu 37 17 8093038 8093038 + Missense_Mutation SNP C C G rs144247363 byFrequency TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr17:8093038C>G uc010vut.1 - 1 527 c.421G>C c.(421-423)GAG>CAG p.E141Q NM_017622 NP_060092 Q96GS4 CQ059_HUMAN hypothetical protein LOC54785 141 0 TCTTCCTCCTCCTGCTGCTCA 0.716 GLP2R 9340 broad.mit.edu 37 17 9757876 9757876 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr17:9757876T>G uc002gmd.1 + 5 569 c.569T>G c.(568-570)CTT>CGT p.L190R NM_004246 NP_004237 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor precursor 190 Helical; Name=1; (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane lung(2)|ovary(1) 3 Glucagon recombinant(DB00040) TCCTTCTCTCTTATCTCCCTC 0.463 DNAH9 1770 broad.mit.edu 37 17 11520913 11520913 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr17:11520913G>A uc002gne.2 + 5 1158 c.1090G>A c.(1090-1092)GAG>AAG p.E364K NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 364 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GCTGCTCCAGGAGATTTGCAA 0.617 DNAH9 1770 broad.mit.edu 37 17 11671828 11671828 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr17:11671828A>C uc002gne.2 + 37 7297 c.7229A>C c.(7228-7230)AAG>ACG p.K2410T DNAH9_uc010coo.2_Missense_Mutation_p.K1704T NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 2410 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AAAACAGTCAAGTTTCCTTCC 0.498 MYOCD 93649 broad.mit.edu 37 17 12655799 12655799 + Missense_Mutation SNP G G T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr17:12655799G>T uc002gnn.2 + 10 1493 c.1194G>T c.(1192-1194)ATG>ATT p.M398I MYOCD_uc002gno.2_Missense_Mutation_p.M398I|MYOCD_uc002gnp.1_Missense_Mutation_p.M302I|MYOCD_uc002gnq.2_Missense_Mutation_p.M117I NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 398 SAP. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CGGCTCTCATGGACCGGCTTC 0.517 C17orf42 79736 broad.mit.edu 37 17 29231427 29231427 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr17:29231427T>G uc002hfu.2 - 2 222 c.152A>C c.(151-153)GAT>GCT p.D51A C17orf42_uc002hfv.2_RNA|C17orf42_uc002hfw.2_Missense_Mutation_p.D51A|C17orf42_uc010wbs.1_Missense_Mutation_p.D51A NM_024683 NP_078959 Q96QE5 TEFM_HUMAN hypothetical protein LOC79736 51 oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter mitochondrial nucleoid|ribonucleoprotein complex DNA polymerase processivity factor activity|nucleic acid binding|protein binding ovary(1) 1 all_cancers(10;4.64e-07)|all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255) TGCATTTTCATCACAAAAAGT 0.423 KIF2B 84643 broad.mit.edu 37 17 51902173 51902173 + Missense_Mutation SNP A A T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr17:51902173A>T uc002iua.2 + 1 1935 c.1779A>T c.(1777-1779)AAA>AAT p.K593N uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 593 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 AGGAGCAGAAAGAGATTGAAG 0.418 GH2 2689 broad.mit.edu 37 17 61957795 61957795 + Silent SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr17:61957795G>A uc002jco.1 - 5 602 c.540C>T c.(538-540)GAC>GAT p.D180D GH2_uc002jcj.2_Intron|CSH2_uc002jck.2_Intron|GH2_uc002jcl.1_3'UTR|GH2_uc002jcm.1_Missense_Mutation_p.T179M|GH2_uc002jcn.1_Silent_p.D165D NM_002059 NP_002050 P01242 SOM2_HUMAN growth hormone 2 isoform 1 180 extracellular region hormone activity upper_aerodigestive_tract(2)|pancreas(1) 3 TGAGCAGTGCGTCATCGTTGT 0.547 CDH2 1000 broad.mit.edu 37 18 25565074 25565074 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr18:25565074A>C uc002kwg.2 - 13 2558 c.2099T>G c.(2098-2100)GTT>GGT p.V700G CDH2_uc010xbn.1_Missense_Mutation_p.V669G NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 700 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 ACACTGGCAAACCTTCACACG 0.483 SETBP1 26040 broad.mit.edu 37 18 42532135 42532135 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr18:42532135A>C uc010dni.2 + 4 3126 c.2830A>C c.(2830-2832)AGC>CGC p.S944R NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 944 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) GAAACGGAAAAGCCTGCAAAA 0.512 Schinzel-Giedion_syndrome MYO5B 4645 broad.mit.edu 37 18 47488655 47488655 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr18:47488655A>C uc002leb.2 - 12 1814 c.1526T>G c.(1525-1527)CTG>CGG p.L509R MYO5B_uc002lec.1_Missense_Mutation_p.L508R NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN myosin VB 509 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(2)|central_nervous_system(1) 5 READ - Rectum adenocarcinoma(32;0.103) TTCATCCAACAGGTCCAAGAT 0.393 DCC 1630 broad.mit.edu 37 18 50961524 50961524 + Silent SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr18:50961524A>G uc002lfe.1 + 22 3761 c.3174A>G c.(3172-3174)GGA>GGG p.G1058G DCC_uc010dpf.1_Silent_p.G693G NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 1058 Extracellular (Potential). apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GTCGTCATGGAGATGGAGGTT 0.303 SERPINB10 5273 broad.mit.edu 37 18 61597380 61597380 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr18:61597380T>G uc010xev.1 + 6 682 c.592T>G c.(592-594)TTA>GTA p.L198V SERPINB10_uc010xew.1_Missense_Mutation_p.L198V NM_005024 NP_005015 P48595 SPB10_HUMAN serine (or cysteine) proteinase inhibitor, clade 198 cytoplasm|nucleus serine-type endopeptidase inhibitor activity lung(1)|kidney(1)|skin(1) 3 Esophageal squamous(42;0.131) ACATCAATTCTTAGTGCAAAA 0.383 MUC16 94025 broad.mit.edu 37 19 9060081 9060081 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr19:9060081A>C uc002mkp.2 - 3 27569 c.27365T>G c.(27364-27366)CTT>CGT p.L9122R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 9124 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TCTACTCATAAGAGCGGTCAT 0.488 MUC16 94025 broad.mit.edu 37 19 9061830 9061830 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr19:9061830A>C uc002mkp.2 - 3 25820 c.25616T>G c.(25615-25617)CTT>CGT p.L8539R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8541 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TCTACTCATAAGAGTGGTCAT 0.522 MUC16 94025 broad.mit.edu 37 19 9076366 9076366 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr19:9076366T>G uc002mkp.2 - 3 11284 c.11080A>C c.(11080-11082)AGT>CGT p.S3694R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 3695 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGAGTCCAACTTGTACTTAAA 0.443 MUC16 94025 broad.mit.edu 37 19 9086887 9086887 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr19:9086887A>G uc002mkp.2 - 1 5132 c.4928T>C c.(4927-4929)GTC>GCC p.V1643A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1643 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GCCCAGGGTGACTCCACTACT 0.507 ZNF426 79088 broad.mit.edu 37 19 9639571 9639571 + Silent SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr19:9639571T>G uc002mlq.2 - 8 1414 c.1150A>C c.(1150-1152)AGA>CGA p.R384R ZNF426_uc010dws.2_Silent_p.R346R NM_024106 NP_077011 Q9BUY5 ZN426_HUMAN zinc finger protein 426 384 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GTGTGAGTTCTTATATGTTGA 0.418 CYP4F12 66002 broad.mit.edu 37 19 15795950 15795950 + Missense_Mutation SNP G G A rs150856722 by1000genomes TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr19:15795950G>A uc002nbl.2 + 9 1119 c.1058G>A c.(1057-1059)CGC>CAC p.R353H NM_023944 NP_076433 cytochrome P450, family 4, subfamily F, skin(3)|ovary(2)|central_nervous_system(2) 7 Acute lymphoblastic leukemia(2;0.0367) TACCAGGAGCGCTGCCGACAG 0.572 SIN3B 23309 broad.mit.edu 37 19 16942380 16942380 + Silent SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr19:16942380C>T uc002ney.1 + 3 317 c.303C>T c.(301-303)AAC>AAT p.N101N SIN3B_uc002new.2_Silent_p.N101N|SIN3B_uc002nex.2_Silent_p.N33N|SIN3B_uc002nez.1_Silent_p.N101N NM_015260 NP_056075 O75182 SIN3B_HUMAN SIN3 homolog B, transcription regulator 101 Interaction with REST (By similarity).|PAH 1. cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding ovary(2) 2 TTGGATTCAACGCTTTTCTTC 0.493 NCAN 1463 broad.mit.edu 37 19 19339180 19339180 + Silent SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr19:19339180G>A uc002nlz.2 + 8 2850 c.2751G>A c.(2749-2751)CCG>CCA p.P917P NCAN_uc010ecc.1_Silent_p.P481P NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 917 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) CAGTGCCTCCGCATCAGAGCA 0.617 ZNF626 199777 broad.mit.edu 37 19 20808392 20808392 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr19:20808392T>G uc002npb.1 - 4 441 c.291A>C c.(289-291)AAA>AAC p.K97N ZNF626_uc002npc.1_Missense_Mutation_p.K21N NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN zinc finger protein 626 isoform 1 97 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 TCAGTACCACTTTTTGGAAAG 0.343 ZNF43 7594 broad.mit.edu 37 19 21992583 21992583 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr19:21992583A>C uc002nqj.2 - 4 386 c.256T>G c.(256-258)TTT>GTT p.F86V ZNF43_uc010ecv.2_Missense_Mutation_p.F80V|ZNF43_uc002nql.2_Missense_Mutation_p.F80V|ZNF43_uc002nqm.2_Missense_Mutation_p.F80V|ZNF43_uc002nqk.2_Missense_Mutation_p.F16V NM_003423 NP_003414 P17038 ZNF43_HUMAN zinc finger protein 43 86 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) TCTGGCCAAAAGTCTTGGGTA 0.279 ZNF492 57615 broad.mit.edu 37 19 22846703 22846703 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr19:22846703A>C uc002nqw.3 + 4 476 c.232A>C c.(232-234)AAT>CAT p.N78H NM_020855 NP_065906 Q9P255 ZN492_HUMAN zinc finger protein 492 78 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) TGGATGTGAAAATTTACAGTT 0.348 ZNF260 339324 broad.mit.edu 37 19 37005915 37005915 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr19:37005915T>G uc002oee.1 - 4 1070 c.226A>C c.(226-228)AGT>CGT p.S76R ZNF260_uc002oed.1_Missense_Mutation_p.S73R|ZNF260_uc010eey.1_Missense_Mutation_p.S73R|ZNF260_uc002oef.1_Missense_Mutation_p.S73R NM_001012756 NP_001012774 Q3ZCT1 ZN260_HUMAN zinc finger protein 260 76 C2H2-type 2. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.162) CCTGTGTGACTTCTAAGGTGT 0.393 ZNF568 374900 broad.mit.edu 37 19 37440630 37440630 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr19:37440630T>G uc002ofc.2 + 7 1090 c.575T>G c.(574-576)CTT>CGT p.L192R ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.L116R|ZNF568_uc010efe.2_Missense_Mutation_p.L116R|ZNF568_uc010eff.1_Intron NM_198539 NP_940941 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 192 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTAGACTTACTTAGATATGAG 0.363 ZNF568 374900 broad.mit.edu 37 19 37441098 37441098 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr19:37441098A>C uc002ofc.2 + 7 1558 c.1043A>C c.(1042-1044)AAT>ACT p.N348T ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.N272T|ZNF568_uc010efe.2_Missense_Mutation_p.N272T|ZNF568_uc010eff.1_Intron NM_198539 NP_940941 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 348 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CAGAAGCAAAATCTTATTGAG 0.388 ZNF607 84775 broad.mit.edu 37 19 38190535 38190535 + Missense_Mutation SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr19:38190535C>T uc002ohc.1 - 5 1093 c.497G>A c.(496-498)CGT>CAT p.R166H ZNF607_uc002ohb.1_Missense_Mutation_p.R165H NM_032689 NP_116078 Q96SK3 ZN607_HUMAN zinc finger protein 607 166 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) AGGTTTCTCACGAGCATTAAT 0.383 CEACAM8 1088 broad.mit.edu 37 19 43097731 43097731 + Missense_Mutation SNP A A T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr19:43097731A>T uc002oud.2 - 2 488 c.386T>A c.(385-387)CTT>CAT p.L129H uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron NM_001816 NP_001807 P31997 CEAM8_HUMAN carcinoembryonic antigen-related cell adhesion 129 Ig-like V-type. immune response anchored to membrane|extracellular space|integral to plasma membrane ovary(1) 1 Prostate(69;0.00899) TTCACTCATAAGATTTAGCTT 0.478 ZNF226 7769 broad.mit.edu 37 19 44679669 44679669 + Missense_Mutation SNP A A T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr19:44679669A>T uc002oyp.2 + 6 398 c.254A>T c.(253-255)AAG>ATG p.K85M ZNF226_uc002oyq.2_Translation_Start_Site|ZNF226_uc002oyr.2_Translation_Start_Site|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Missense_Mutation_p.K85M|ZNF226_uc002oyt.2_Missense_Mutation_p.K85M NM_001032373 NP_001027545 Q9NYT6 ZN226_HUMAN zinc finger protein 226 isoform a 85 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352)|all_neural(266;0.202) AATCAAAGTAAGTTAATTACT 0.353 SLC6A16 28968 broad.mit.edu 37 19 49814455 49814455 + Silent SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr19:49814455T>C uc002pmz.2 - 2 384 c.150A>G c.(148-150)CAA>CAG p.Q50Q SLC6A16_uc002pna.2_Silent_p.Q50Q|hsa-mir-4324|MI0015854_5'Flank NM_014037 NP_054756 Q9GZN6 S6A16_HUMAN solute carrier family 6, member 16 50 Cytoplasmic (Potential). integral to membrane|intracellular neurotransmitter:sodium symporter activity skin(2)|ovary(1)|kidney(1) 4 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) CTGCTGAAACTTGGGCCTCTG 0.547 SYT3 84258 broad.mit.edu 37 19 51135733 51135733 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr19:51135733A>C uc002pst.2 - 2 1118 c.484T>G c.(484-486)TTG>GTG p.L162V SYT3_uc002psv.2_Missense_Mutation_p.L162V|SYT3_uc010ycd.1_Missense_Mutation_p.L162V NM_032298 NP_115674 Q9BQG1 SYT3_HUMAN synaptotagmin III 162 Cytoplasmic (Potential). cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|breast(1) 3 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) TCCATGTCCAAGTAGGAGGGC 0.657 TSEN34 79042 broad.mit.edu 37 19 54696123 54696123 + Missense_Mutation SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr19:54696123C>T uc002qdu.2 + 4 753 c.644C>T c.(643-645)CCT>CTT p.P215L MBOAT7_uc002qdq.2_5'Flank|MBOAT7_uc002qdr.2_5'Flank|MBOAT7_uc002qds.2_5'Flank|MBOAT7_uc010yen.1_5'Flank|MBOAT7_uc002qdt.3_5'Flank|TSEN34_uc010yeo.1_Missense_Mutation_p.P215L|TSEN34_uc002qdv.2_Missense_Mutation_p.P215L|TSEN34_uc002qdw.2_Missense_Mutation_p.P215L NM_024075 NP_076980 Q9BSV6 SEN34_HUMAN tRNA-intron endonuclease 34 215 mRNA processing|tRNA-type intron splice site recognition and cleavage nucleolus|tRNA-intron endonuclease complex nucleic acid binding|tRNA-intron endonuclease activity 0 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GCCGGCCGCCCTGCCCACGAG 0.642 ZNF667 63934 broad.mit.edu 37 19 56952809 56952809 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr19:56952809T>C uc002qnd.2 - 5 1717 c.1555A>G c.(1555-1557)AGA>GGA p.R519G ZNF667_uc010etl.2_Missense_Mutation_p.R301G|ZNF667_uc002qne.2_Missense_Mutation_p.R519G|ZNF667_uc010etm.2_Missense_Mutation_p.R462G NM_022103 NP_071386 Q5HYK9 ZN667_HUMAN zinc finger protein 667 519 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) GTGTGAATTCTTTCATGTTGG 0.438 PEG3 5178 broad.mit.edu 37 19 57327880 57327880 + Nonsense_Mutation SNP C C A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr19:57327880C>A uc002qnu.2 - 7 2281 c.1930G>T c.(1930-1932)GAA>TAA p.E644* ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Nonsense_Mutation_p.E615*|PEG3_uc002qnv.2_Nonsense_Mutation_p.E644*|PEG3_uc002qnw.2_Nonsense_Mutation_p.E520*|PEG3_uc002qnx.2_Nonsense_Mutation_p.E518*|PEG3_uc010etr.2_Nonsense_Mutation_p.E644* NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 644 C2H2-type 4. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TTCTGATGTTCTTTCAGGGAT 0.418 PEG3 5178 broad.mit.edu 37 19 57328104 57328104 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr19:57328104T>G uc002qnu.2 - 7 2057 c.1706A>C c.(1705-1707)AAG>ACG p.K569T ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.K540T|PEG3_uc002qnv.2_Missense_Mutation_p.K569T|PEG3_uc002qnw.2_Missense_Mutation_p.K445T|PEG3_uc002qnx.2_Missense_Mutation_p.K443T|PEG3_uc010etr.2_Missense_Mutation_p.K569T NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 569 C2H2-type 3. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GAAGGTTTCCTTACACACCCT 0.368 ZNF549 256051 broad.mit.edu 37 19 58048993 58048993 + Silent SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr19:58048993A>G uc002qpb.1 + 4 870 c.621A>G c.(619-621)CAA>CAG p.Q207Q ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Silent_p.Q194Q NM_153263 NP_694995 Q6P9A3 ZN549_HUMAN zinc finger protein 549 207 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ACAGCAGACAAGAGTATGCAC 0.438 SNTG2 54221 broad.mit.edu 37 2 1271173 1271173 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr2:1271173T>G uc002qwq.2 + 14 1242 c.1114T>G c.(1114-1116)TTG>GTG p.L372V SNTG2_uc010ewi.2_Missense_Mutation_p.L245V NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 372 PH. central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) GCAAGCAAACTTGTATCTGGG 0.522 POMC 5443 broad.mit.edu 37 2 25384357 25384357 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr2:25384357G>A uc002rfy.1 - 4 660 c.397C>T c.(397-399)CGC>TGC p.R133C POMC_uc002rfz.1_Missense_Mutation_p.R133C|POMC_uc002rga.1_Missense_Mutation_p.R133C NM_001035256 NP_001030333 P01189 COLI_HUMAN proopiomelanocortin preproprotein 133 cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure extracellular space|stored secretory granule hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108) TTGCCCTCGCGCGGGCCCGGC 0.716 C2orf39 92749 broad.mit.edu 37 2 26671585 26671585 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr2:26671585G>A uc002rhg.2 + 11 1497 c.1423G>A c.(1423-1425)GCG>ACG p.A475T NM_145038 NP_659475 Q96MC2 CC164_HUMAN hypothetical protein LOC92749 475 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGAGGCCGCCGCGGAACCAGA 0.512 GALNT14 79623 broad.mit.edu 37 2 31215824 31215824 + Missense_Mutation SNP C C G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr2:31215824C>G uc002rnr.2 - 2 798 c.179G>C c.(178-180)CGG>CCG p.R60P GALNT14_uc002rnq.2_Missense_Mutation_p.R40P|GALNT14_uc002rns.2_Intron|GALNT14_uc010ymr.1_Missense_Mutation_p.R25P|GALNT14_uc010ezo.1_Missense_Mutation_p.R60P|GALNT14_uc010ezp.1_Missense_Mutation_p.R31P NM_024572 NP_078848 Q96FL9 GLT14_HUMAN N-acetylgalactosaminyltransferase 14 60 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding upper_aerodigestive_tract(2)|skin(1) 3 Acute lymphoblastic leukemia(172;0.155) ATTCAGATACCGCCGCTCATC 0.572 MAP4K3 8491 broad.mit.edu 37 2 39664044 39664044 + Missense_Mutation SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr2:39664044C>T uc002rro.2 - 1 176 c.85G>A c.(85-87)GAC>AAC p.D29N MAP4K3_uc002rrp.2_Missense_Mutation_p.D29N|uc002rrq.2_Intron|uc002rrr.1_5'Flank NM_003618 NP_003609 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase 29 Protein kinase.|ATP (By similarity). JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(3)|lung(3)|stomach(1)|pancreas(1) 8 all_hematologic(82;0.211) TTGTAGACGTCGCCGTAGGTG 0.706 SLC8A1 6546 broad.mit.edu 37 2 40656259 40656259 + Silent SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr2:40656259T>G uc002rrx.2 - 1 1186 c.1162A>C c.(1162-1164)AGG>CGG p.R388R SLC8A1_uc002rry.2_Silent_p.R388R|SLC8A1_uc002rrz.2_Silent_p.R388R|SLC8A1_uc002rsa.2_Silent_p.R388R|SLC8A1_uc002rsd.3_Silent_p.R388R|SLC8A1_uc002rsb.1_Silent_p.R388R|SLC8A1_uc010fan.1_Silent_p.R388R|SLC8A1_uc002rsc.1_Silent_p.R388R NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 388 Cytoplasmic (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) ACAGCCTTCCTTGCTTGGTCA 0.448 SLC3A1 6519 broad.mit.edu 37 2 44531329 44531329 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr2:44531329T>C uc002ruc.3 + 7 1262 c.1184T>C c.(1183-1185)ATG>ACG p.M395T SLC3A1_uc002rtz.2_Missense_Mutation_p.M395T|SLC3A1_uc002rua.2_Missense_Mutation_p.M395T|SLC3A1_uc002rub.2_Missense_Mutation_p.M395T|SLC3A1_uc002rud.3_Missense_Mutation_p.M117T|SLC3A1_uc002rue.3_Missense_Mutation_p.M15T NM_000341 NP_000332 Q07837 SLC31_HUMAN solute carrier family 3, member 1 395 Extracellular (Potential). carbohydrate metabolic process|cellular amino acid metabolic process|ion transport integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity 0 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) L-Cystine(DB00138) AGGACCGTGATGTACTATGGA 0.458 FSHR 2492 broad.mit.edu 37 2 49191058 49191058 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr2:49191058A>C uc002rww.2 - 10 976 c.902T>G c.(901-903)GTT>GGT p.V301G FSHR_uc002rwx.2_Missense_Mutation_p.V239G|FSHR_uc010fbn.2_Missense_Mutation_p.V275G NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 301 Extracellular (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) CATATAATCAACTTCTTGCCT 0.393 Gonadal_Dysgenesis_46_XX VPS54 51542 broad.mit.edu 37 2 64144075 64144075 + Silent SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr2:64144075A>G uc002scq.2 - 16 2350 c.2187T>C c.(2185-2187)GCT>GCC p.A729A VPS54_uc002scp.2_Silent_p.A717A|VPS54_uc002scn.2_5'UTR|VPS54_uc002sco.2_Silent_p.A214A|VPS54_uc010fct.2_Silent_p.A576A NM_016516 NP_057600 Q9P1Q0 VPS54_HUMAN vacuolar protein sorting 54 isoform 1 729 protein transport|retrograde transport, endosome to Golgi 0 TAAGAACTTCAGCTGGTTTCC 0.373 CD207 50489 broad.mit.edu 37 2 71058947 71058947 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr2:71058947A>C uc002shg.2 - 5 768 c.721T>G c.(721-723)TTT>GTT p.F241V NM_015717 NP_056532 Q9UJ71 CLC4K_HUMAN CD207 antigen, langerin 241 C-type lectin.|Extracellular (Potential). defense response to virus endocytic vesicle|integral to membrane mannose binding ovary(1)|lung(1) 2 TTATACAGAAACTCCTGTAGG 0.532 CD207 50489 broad.mit.edu 37 2 71060118 71060118 + Silent SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr2:71060118A>G uc002shg.2 - 4 677 c.630T>C c.(628-630)TCT>TCC p.S210S NM_015717 NP_056532 Q9UJ71 CLC4K_HUMAN CD207 antigen, langerin 210 C-type lectin.|Extracellular (Potential). defense response to virus endocytic vesicle|integral to membrane mannose binding ovary(1)|lung(1) 2 TTGGAATGAGAGAAAAGTAAT 0.468 EXOC6B 23233 broad.mit.edu 37 2 72606879 72606879 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr2:72606879A>C uc010fep.2 - 19 2239 c.2101T>G c.(2101-2103)TTG>GTG p.L701V NM_015189 NP_056004 Q9Y2D4 EXC6B_HUMAN SEC15-like 2 701 protein transport|vesicle docking involved in exocytosis exocyst central_nervous_system(2) 2 CTGACGTCCAAGTTGAACTGC 0.448 ALMS1 7840 broad.mit.edu 37 2 73747132 73747132 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr2:73747132G>A uc002sje.1 + 13 9884 c.9773G>A c.(9772-9774)CGC>CAC p.R3258H ALMS1_uc002sjf.1_Missense_Mutation_p.R3214H|ALMS1_uc002sjg.2_Missense_Mutation_p.R2644H|ALMS1_uc002sjh.1_Missense_Mutation_p.R2644H|ALMS1_uc010fev.1_Missense_Mutation_p.R73H NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3256 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 ACTTTTTCTCGCGGCACAGAT 0.408 CNTNAP5 129684 broad.mit.edu 37 2 125530496 125530496 + Missense_Mutation SNP A A T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr2:125530496A>T uc002tno.2 + 17 3015 c.2651A>T c.(2650-2652)AAG>ATG p.K884M CNTNAP5_uc010flu.2_Missense_Mutation_p.K885M NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 884 Laminin G-like 3.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) AGGAACCTCAAGGAGACCTCC 0.547 THSD7B 80731 broad.mit.edu 37 2 137852673 137852673 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr2:137852673T>G uc002tva.1 + 3 1088 c.1088T>G c.(1087-1089)CTT>CGT p.L363R THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Missense_Mutation_p.L253R NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) GAAGGAGAACTTCTGCAGCAA 0.443 THSD7B 80731 broad.mit.edu 37 2 138169270 138169270 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr2:138169270A>C uc002tva.1 + 13 2694 c.2694A>C c.(2692-2694)CAA>CAC p.Q898H THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.Q788H NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) TTATATCCCAACCTTATGGAA 0.473 LRP1B 53353 broad.mit.edu 37 2 141641403 141641403 + Silent SNP A A T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr2:141641403A>T uc002tvj.1 - 25 5124 c.4152T>A c.(4150-4152)GCT>GCA p.A1384A LRP1B_uc010fnl.1_Silent_p.A566A NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1384 Extracellular (Potential).|LDL-receptor class B 10. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTGGGTCCAAAGCAATGGCCC 0.388 TSP Lung(27;0.18) XIRP2 129446 broad.mit.edu 37 2 168103841 168103841 + Missense_Mutation SNP A A T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr2:168103841A>T uc002udx.2 + 8 5957 c.5939A>T c.(5938-5940)AAG>ATG p.K1980M XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.K1805M|XIRP2_uc010fpq.2_Missense_Mutation_p.K1758M|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1805 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 CTTCAGCCAAAGCCAGGTCCA 0.468 MYO3B 140469 broad.mit.edu 37 2 171242770 171242770 + Silent SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr2:171242770T>G uc002ufy.2 + 13 1505 c.1362T>G c.(1360-1362)ACT>ACG p.T454T MYO3B_uc002ufv.2_Silent_p.T441T|MYO3B_uc010fqb.1_Silent_p.T441T|MYO3B_uc002ufz.2_Silent_p.T454T|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN myosin IIIB isoform 2 454 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity lung(8)|ovary(6)|skin(4)|central_nervous_system(1) 19 AGCATTTGACTTTCTTGGGAA 0.443 TTN 7273 broad.mit.edu 37 2 179415900 179415900 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr2:179415900T>G uc010zfg.1 - 285 83878 c.83654A>C c.(83653-83655)AAG>ACG p.K27885T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K21580T|TTN_uc010zfi.1_Missense_Mutation_p.K21513T|TTN_uc010zfj.1_Missense_Mutation_p.K21388T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 28812 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) GCCCACAATCTTACTGCCTCC 0.458 TTN 7273 broad.mit.edu 37 2 179578774 179578774 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr2:179578774T>G uc010zfg.1 - 89 23103 c.22879A>C c.(22879-22881)ACA>CCA p.T7627P TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T4288P NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8554 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) TTGTCACTTGTTAGCTCTTTT 0.428 TTN 7273 broad.mit.edu 37 2 179613894 179613894 + Silent SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr2:179613894T>C uc002unb.2 - 46 13457 c.13233A>G c.(13231-13233)CAA>CAG p.Q4411Q TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) GGGCACATTCTTGTACATTTT 0.313 TTN 7273 broad.mit.edu 37 2 179616053 179616053 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr2:179616053T>G uc002unb.2 - 46 11298 c.11074A>C c.(11074-11076)AGT>CGT p.S3692R TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) TCCAGGAAACTTTCACCTACA 0.338 DNAH7 56171 broad.mit.edu 37 2 196771459 196771459 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr2:196771459A>C uc002utj.3 - 27 4360 c.4259T>G c.(4258-4260)CTT>CGT p.L1420R NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1420 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TGTGGGGTCAAGTTTTAGTTC 0.378 MAP2 4133 broad.mit.edu 37 2 210561388 210561388 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr2:210561388A>G uc002vde.1 + 8 4551 c.4303A>G c.(4303-4305)AGA>GGA p.R1435G MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.R1431G NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 1435 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TAAAACCGGGAGAGGCAGAAT 0.383 ERBB4 2066 broad.mit.edu 37 2 212248599 212248599 + Missense_Mutation SNP T T A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr2:212248599T>A uc002veg.1 - 28 3766 c.3668A>T c.(3667-3669)AAG>ATG p.K1223M ERBB4_uc002veh.1_Missense_Mutation_p.K1207M|ERBB4_uc010zji.1_Missense_Mutation_p.K1213M|ERBB4_uc010zjj.1_Missense_Mutation_p.K1197M NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 1223 Cytoplasmic (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TATGTTGTTCTTCAGGTACTC 0.517 TSP Lung(8;0.080) ERBB4 2066 broad.mit.edu 37 2 212426795 212426795 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr2:212426795T>C uc002veg.1 - 20 2418 c.2320A>G c.(2320-2322)AGT>GGT p.S774G ERBB4_uc002veh.1_Missense_Mutation_p.S774G|ERBB4_uc010zji.1_Missense_Mutation_p.S764G|ERBB4_uc010zjj.1_Missense_Mutation_p.S764G|ERBB4_uc010fut.1_Missense_Mutation_p.S774G NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 774 Protein kinase.|Cytoplasmic (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TGATCCATACTTGCCATGATC 0.438 TSP Lung(8;0.080) ERBB4 2066 broad.mit.edu 37 2 212483974 212483974 + Silent SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr2:212483974A>G uc002veg.1 - 19 2327 c.2229T>C c.(2227-2229)ACT>ACC p.T743T ERBB4_uc002veh.1_Silent_p.T743T|ERBB4_uc010zji.1_Silent_p.T733T|ERBB4_uc010zjj.1_Silent_p.T733T|ERBB4_uc010fut.1_Silent_p.T743T NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 743 Protein kinase.|Cytoplasmic (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GAATCTTCACAGTTTCTCCTT 0.373 TSP Lung(8;0.080) TMEM198 130612 broad.mit.edu 37 2 220409502 220409502 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr2:220409502A>G uc002vme.2 + 3 638 c.53A>G c.(52-54)GAT>GGT p.D18G CHPF_uc010zlh.1_5'Flank|CHPF_uc002vmc.3_5'Flank|CHPF_uc002vmd.3_5'Flank|TMEM198_uc002vmf.2_Missense_Mutation_p.D18G NM_001005209 NP_001005209 Q66K66 TM198_HUMAN transmembrane protein 198 18 integral to membrane ovary(1) 1 Renal(207;0.0376) Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) CCTGAGCCAGATGATGCCTTC 0.597 DOCK10 55619 broad.mit.edu 37 2 225702525 225702525 + Missense_Mutation SNP T T A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr2:225702525T>A uc010fwz.1 - 25 3043 c.2804A>T c.(2803-2805)AAG>ATG p.K935M DOCK10_uc002vob.2_Missense_Mutation_p.K929M NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 935 GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) CTCATGGCACTTGGCCACAAT 0.468 KIAA1486 57624 broad.mit.edu 37 2 226447427 226447427 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr2:226447427A>G uc002voe.2 + 4 1469 c.1294A>G c.(1294-1296)AGT>GGT p.S432G KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.S202G NM_020864 NP_065915 Q9P242 K1486_HUMAN hypothetical protein LOC57624 432 Pro-rich. ovary(2)|central_nervous_system(1) 3 Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129) Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223) CTACCCTAAAAGTCACTCCAC 0.667 COL4A4 1286 broad.mit.edu 37 2 227953493 227953493 + Missense_Mutation SNP C C A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr2:227953493C>A uc010zlt.1 - 22 2153 c.1499G>T c.(1498-1500)GGC>GTC p.G500V NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 500 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GCCAGGGGGGCCCATGGGTCC 0.557 SPHKAP 80309 broad.mit.edu 37 2 228886451 228886451 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr2:228886451T>C uc002vpq.2 - 6 720 c.673A>G c.(673-675)AGC>GGC p.S225G SPHKAP_uc002vpp.2_Missense_Mutation_p.S225G|SPHKAP_uc010zlx.1_Missense_Mutation_p.S225G NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 225 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TCCACCTCGCTTTCCTCCTCC 0.438 SLA2 84174 broad.mit.edu 37 20 35261962 35261962 + Missense_Mutation SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr20:35261962C>T uc002xfv.2 - 4 624 c.262G>A c.(262-264)GCC>ACC p.A88T SLA2_uc002xfu.2_Missense_Mutation_p.A88T NM_032214 NP_115590 Q9H6Q3 SLAP2_HUMAN Src-like-adaptor 2 isoform a 88 SH3. antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane protein N-terminus binding|SH3/SH2 adaptor activity 0 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) GAGACTTTGGCCACGTGGACG 0.597 WISP2 8839 broad.mit.edu 37 20 43355923 43355923 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr20:43355923G>A uc002xmn.2 + 5 1081 c.728G>A c.(727-729)CGC>CAC p.R243H uc002xml.1_Intron|uc002xmm.1_Intron|WISP2_uc002xmp.2_Missense_Mutation_p.R243H|WISP2_uc002xmq.2_Missense_Mutation_p.A161T NM_003881 NP_003872 O76076 WISP2_HUMAN WNT1 inducible signaling pathway protein 2 243 cell adhesion|cell-cell signaling|signal transduction extracellular region|soluble fraction insulin-like growth factor binding skin(1) 1 Myeloproliferative disorder(115;0.0122) TCCAGGGGTCGCAGTCCACAA 0.682 TMPRSS15 5651 broad.mit.edu 37 21 19687479 19687479 + Silent SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr21:19687479T>G uc002ykw.2 - 17 2047 c.2016A>C c.(2014-2016)TCA>TCC p.S672S NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 672 Extracellular (Potential).|LDL-receptor class A 2. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 CTGCTTCATCTGAGCCATCCT 0.403 ADAMTS1 9510 broad.mit.edu 37 21 28210864 28210864 + Missense_Mutation SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr21:28210864C>T uc002ymf.2 - 8 2553 c.2098G>A c.(2098-2100)GGT>AGT p.G700S NM_006988 NP_008919 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 700 Cys-rich. integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding lung(3)|large_intestine(2)|central_nervous_system(1) 6 Breast(209;0.000962) Lung(58;0.215) CGATCACAACCAGCTTTTACA 0.408 ADAMTS1 9510 broad.mit.edu 37 21 28211926 28211926 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr21:28211926A>C uc002ymf.2 - 7 2463 c.2008T>G c.(2008-2010)TTC>GTC p.F670V NM_006988 NP_008919 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 670 Cys-rich. integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding lung(3)|large_intestine(2)|central_nervous_system(1) 6 Breast(209;0.000962) Lung(58;0.215) AAAACGAAGAAGTAGCCAATG 0.458 POTEH 23784 broad.mit.edu 37 22 16287378 16287378 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr22:16287378A>G uc010gqp.2 - 1 560 c.508T>C c.(508-510)TAC>CAC p.Y170H POTEH_uc002zlg.1_RNA|POTEH_uc002zlh.1_5'UTR|POTEH_uc002zlj.1_Missense_Mutation_p.Y5H NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN ANKRD26-like family C, member 3 170 skin(1) 1 CGGACGTGGTACCTCGGCTCC 0.582 CYP2D6 1565 broad.mit.edu 37 22 42522680 42522680 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr22:42522680A>C uc003bce.2 - 9 1480 c.1390T>G c.(1390-1392)TTC>GTC p.F464V uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Missense_Mutation_p.F158V|CYP2D6_uc003bcf.2_Missense_Mutation_p.F413V NM_000106 NP_000097 Q6NWU0 Q6NWU0_HUMAN cytochrome P450, family 2, subfamily D, 464 electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen breast(1)|skin(1) 2 GAGAAGCTGAAGTGCTGCAGC 0.662 CELSR1 9620 broad.mit.edu 37 22 46859806 46859806 + Silent SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr22:46859806G>A uc003bhw.1 - 2 3981 c.3981C>T c.(3979-3981)TCC>TCT p.S1327S NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 1327 Extracellular (Potential).|EGF-like 1; calcium-binding. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GGAAGGGCGCGGAGCTGTCGA 0.667 BRD1 23774 broad.mit.edu 37 22 50217634 50217634 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr22:50217634G>A uc003biv.2 - 1 819 c.332C>T c.(331-333)CCG>CTG p.P111L BRD1_uc011arf.1_5'UTR|BRD1_uc011arg.1_Missense_Mutation_p.P111L|BRD1_uc011arh.1_Missense_Mutation_p.P111L|BRD1_uc003biu.3_Missense_Mutation_p.P111L NM_014577 NP_055392 O95696 BRD1_HUMAN bromodomain containing protein 1 111 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding pancreas(1) 1 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) GGCCGAGGCCGGCGTGCCGTG 0.607 GRM7 2917 broad.mit.edu 37 3 7456743 7456743 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr3:7456743A>C uc003bqm.2 + 5 1341 c.1067A>C c.(1066-1068)GAA>GCA p.E356A GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.E356A|GRM7_uc003bql.2_Missense_Mutation_p.E356A|GRM7_uc003bqn.1_5'UTR NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 356 Extracellular (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) CGTACACTTGAAAACAACAGA 0.403 GRM7 2917 broad.mit.edu 37 3 7721845 7721845 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr3:7721845T>C uc003bqm.2 + 9 2835 c.2561T>C c.(2560-2562)CTC>CCC p.L854P GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.L854P|GRM7_uc003bql.2_Missense_Mutation_p.L854P|GRM7_uc003bqn.1_Missense_Mutation_p.L437P NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 854 Cytoplasmic (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) CACCCTGAACTCAATGTCCAG 0.507 OXSM 54995 broad.mit.edu 37 3 25833414 25833414 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr3:25833414A>C uc003cdn.2 + 2 1010 c.903A>C c.(901-903)GAA>GAC p.E301D NGLY1_uc011awo.1_5'Flank|OXSM_uc011awp.1_Missense_Mutation_p.E26D|OXSM_uc010hfh.2_Intron NM_017897 NP_060367 Q9NWU1 OXSM_HUMAN 3-oxoacyl-ACP synthase, mitochondrial isoform 1 301 acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process mitochondrion 3-oxoacyl-[acyl-carrier-protein] synthase activity ovary(1)|breast(1) 2 TCTATGCAGAAGTTTTGGGCT 0.463 ARPP21 10777 broad.mit.edu 37 3 35778853 35778853 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr3:35778853A>G uc003cgb.2 + 16 1907 c.1643A>G c.(1642-1644)CAG>CGG p.Q548R ARPP21_uc003cga.2_Missense_Mutation_p.Q494R|ARPP21_uc011axy.1_Missense_Mutation_p.Q514R|ARPP21_uc003cgf.2_Missense_Mutation_p.Q349R|ARPP21_uc003cgg.2_Missense_Mutation_p.Q36R NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 548 Gln-rich. cytoplasm nucleic acid binding ovary(2)|skin(1) 3 CTGGTCACTCAGGTAGGGGGC 0.602 SCN10A 6336 broad.mit.edu 37 3 38739228 38739228 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr3:38739228T>G uc003ciq.2 - 27 5483 c.5483A>C c.(5482-5484)AAG>ACG p.K1828T NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 1828 sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TGCCATAAACTTCTCCTCCAT 0.433 CNTN3 5067 broad.mit.edu 37 3 74350894 74350894 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr3:74350894A>G uc003dpm.1 - 14 1929 c.1849T>C c.(1849-1851)TCT>CCT p.S617P NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 617 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TCTTTCCAAGAGAGTTGGGCT 0.453 ROBO2 6092 broad.mit.edu 37 3 77530266 77530266 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr3:77530266T>C uc003dpy.3 + 4 1206 c.563T>C c.(562-564)CTG>CCG p.L188P ROBO2_uc003dpz.2_Missense_Mutation_p.L188P|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.L188P NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 188 Ig-like C2-type 2.|Extracellular (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) GGTGGAAAACTGATGATCTCC 0.313 EPHA6 285220 broad.mit.edu 37 3 97356863 97356863 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr3:97356863A>C uc010how.1 + 14 2764 c.2721A>C c.(2719-2721)AAA>AAC p.K907N EPHA6_uc011bgp.1_3'UTR|EPHA6_uc003drs.3_Missense_Mutation_p.K299N|EPHA6_uc003drr.3_Missense_Mutation_p.K299N|EPHA6_uc003drt.2_Missense_Mutation_p.K299N|EPHA6_uc010hox.1_RNA NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 812 Protein kinase.|Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity p.K813N(1) stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 TAGTATGCAAAGTTTCTGATT 0.403 EPHA6 285220 broad.mit.edu 37 3 97454923 97454923 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr3:97454923A>C uc010how.1 + 16 3132 c.3089A>C c.(3088-3090)AAT>ACT p.N1030T EPHA6_uc003drt.2_Missense_Mutation_p.N422T|EPHA6_uc010hox.1_RNA NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 935 Protein kinase.|Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 CTGATCCGAAATCCCAGTGCC 0.443 SI 6476 broad.mit.edu 37 3 164735642 164735642 + Silent SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr3:164735642A>C uc003fei.2 - 30 3602 c.3540T>G c.(3538-3540)ACT>ACG p.T1180T NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1180 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TTAGAGCAGGAGTTGGCTGGA 0.358 HNSCC(35;0.089) SI 6476 broad.mit.edu 37 3 164735779 164735779 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr3:164735779A>C uc003fei.2 - 29 3561 c.3499T>G c.(3499-3501)TTA>GTA p.L1167V NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1167 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity p.L1167*(1) ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CTGTTGAGTAAGAAAACACCA 0.338 HNSCC(35;0.089) ZBBX 79740 broad.mit.edu 37 3 167034828 167034828 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr3:167034828G>A uc003fep.2 - 14 1482 c.1159C>T c.(1159-1161)CCT>TCT p.P387S ZBBX_uc011bpc.1_Missense_Mutation_p.P387S|ZBBX_uc003feq.2_Missense_Mutation_p.P358S NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 387 intracellular zinc ion binding ovary(2) 2 GATGGTTCAGGTCTCTCTATG 0.343 KCNMB2 10242 broad.mit.edu 37 3 178560470 178560470 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr3:178560470T>G uc003fjd.2 + 5 796 c.453T>G c.(451-453)AAT>AAG p.N151K uc003fjb.1_Intron|uc003fjc.1_Intron|KCNMB2_uc003fje.2_Missense_Mutation_p.N151K|KCNMB2_uc003fjf.2_Missense_Mutation_p.N151K|KCNMB2_uc011bqa.1_Intron|KCNMB2_uc011bqb.1_RNA NM_181361 NP_852006 Q9Y691 KCMB2_HUMAN calcium-activated potassium channel beta 2 151 Extracellular (Potential). detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction voltage-gated potassium channel complex calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(1) 1 all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125) OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841) GTGGAAAAAATTTTGAAGAAT 0.403 ZNF718 255403 broad.mit.edu 37 4 154768 154768 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr4:154768T>G uc003fzt.3 + 8 426 c.293T>G c.(292-294)CTT>CGT p.L98R ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.2_RNA|ZNF718_uc003fzw.3_5'UTR NM_001039127 NP_001034216 Q3SXZ3 ZN718_HUMAN zinc finger protein 718 98 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) TTCCACAAACTTATACCAAAA 0.338 POLR2B 5431 broad.mit.edu 37 4 57860970 57860970 + Missense_Mutation SNP T T A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr4:57860970T>A uc003hcl.1 + 5 557 c.514T>A c.(514-516)TGT>AGT p.C172S POLR2B_uc011cae.1_Missense_Mutation_p.C165S|POLR2B_uc011caf.1_Missense_Mutation_p.C97S NM_000938 NP_000929 P30876 RPB2_HUMAN DNA directed RNA polymerase II polypeptide B 172 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding ovary(2) 2 Glioma(25;0.08)|all_neural(26;0.181) TCGTGATCTTTGTGAGTTAAA 0.333 LPHN3 23284 broad.mit.edu 37 4 62812667 62812667 + Silent SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr4:62812667T>C uc010ihh.2 + 13 2424 c.2251T>C c.(2251-2253)TTG>CTG p.L751L LPHN3_uc003hcq.3_Silent_p.L751L|LPHN3_uc003hct.2_Silent_p.L144L NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 738 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 GTATAACAACTTGGGTCCTTA 0.388 PPEF2 5470 broad.mit.edu 37 4 76787343 76787343 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr4:76787343T>G uc003hix.2 - 15 2276 c.1919A>C c.(1918-1920)GAG>GCG p.E640A PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_3'UTR NM_006239 NP_006230 O14830 PPE2_HUMAN serine/threonine protein phosphatase with 640 detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity ovary(2)|lung(1)|central_nervous_system(1) 4 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CACCGTTACCTCGCGACTCAG 0.473 BMP3 651 broad.mit.edu 37 4 81967513 81967513 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr4:81967513A>C uc003hmg.3 + 2 1258 c.938A>C c.(937-939)GAG>GCG p.E313A NM_001201 NP_001192 P12645 BMP3_HUMAN bone morphogenetic protein 3 preproprotein 313 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity ovary(4)|central_nervous_system(1) 5 AAAAAGGATGAGGTGTGGGAG 0.512 DSPP 1834 broad.mit.edu 37 4 88534300 88534300 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr4:88534300A>C uc003hqu.2 + 4 1082 c.962A>C c.(961-963)AAG>ACG p.K321T NM_014208 NP_055023 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein preproprotein 321 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent central_nervous_system(1) 1 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) GATGGAGACAAGACCTCCAAG 0.418 FAT4 79633 broad.mit.edu 37 4 126370822 126370822 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr4:126370822T>G uc003ifj.3 + 9 8651 c.8651T>G c.(8650-8652)CTT>CGT p.L2884R FAT4_uc011cgp.1_Missense_Mutation_p.L1182R|FAT4_uc003ifi.1_Missense_Mutation_p.L362R NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2884 Cadherin 28.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TGCCCTGAACTTACTGAGATT 0.373 DCHS2 54798 broad.mit.edu 37 4 155191053 155191053 + Silent SNP T T A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr4:155191053T>A uc003inw.2 - 19 5211 c.5211A>T c.(5209-5211)TCA>TCT p.S1737S NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 1737 Cadherin 15. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) AAGGATTACCTGACTTAGAGC 0.338 RBM46 166863 broad.mit.edu 37 4 155720087 155720087 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr4:155720087A>C uc003ioo.2 + 4 946 c.773A>C c.(772-774)AAA>ACA p.K258T RBM46_uc011cim.1_Missense_Mutation_p.K258T|RBM46_uc003iop.1_Missense_Mutation_p.K258T NM_144979 NP_659416 Q8TBY0 RBM46_HUMAN RNA binding motif protein 46 258 RRM 3. nucleotide binding|RNA binding central_nervous_system(1)|skin(1) 2 all_hematologic(180;0.24) Renal(120;0.0854) GAATTCAATAAATTTAAGCCT 0.363 GUCY1A3 2982 broad.mit.edu 37 4 156629419 156629419 + Missense_Mutation SNP A A C rs142097871 TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr4:156629419A>C uc003iov.2 + 6 885 c.349A>C c.(349-351)ACA>CCA p.T117P GUCY1A3_uc003iou.2_Missense_Mutation_p.T117P|GUCY1A3_uc010iqc.2_Missense_Mutation_p.T117P|GUCY1A3_uc003iow.2_Missense_Mutation_p.T117P|GUCY1A3_uc010iqd.2_Missense_Mutation_p.T117P|GUCY1A3_uc003iox.2_Missense_Mutation_p.T117P|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Missense_Mutation_p.T117P|GUCY1A3_uc010iqe.2_5'UTR|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.T117P NM_000856 NP_000847 Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 isoform A 117 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) CTTTGAAAAAACAATTGCAGA 0.279 ODZ3 55714 broad.mit.edu 37 4 183664404 183664404 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr4:183664404G>A uc003ivd.1 + 18 3498 c.3461G>A c.(3460-3462)CGA>CAA p.R1154Q ODZ3_uc003ive.1_Missense_Mutation_p.R560Q NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 1154 Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) GGCAATGGGCGAAGGCGCAGC 0.522 TRIML2 205860 broad.mit.edu 37 4 189020226 189020226 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr4:189020226T>C uc003izl.2 - 4 470 c.434A>G c.(433-435)GAG>GGG p.E145G TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc011cle.1_Missense_Mutation_p.E195G|TRIML2_uc011clf.1_Missense_Mutation_p.E195G NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 145 Potential. ligase activity central_nervous_system(2) 2 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) ACACTTTTTCTCAAGCTCCAC 0.483 SLC12A7 10723 broad.mit.edu 37 5 1083981 1083981 + Silent SNP G G A rs34815306 byFrequency TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr5:1083981G>A uc003jbu.2 - 8 1074 c.1008C>T c.(1006-1008)TCC>TCT p.S336S NM_006598 NP_006589 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride 336 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity skin(2)|large_intestine(1)|ovary(1) 4 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) CCCAGAGCGCGGAGGTGGCTG 0.657 SEMA5A 9037 broad.mit.edu 37 5 9197384 9197384 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr5:9197384A>G uc003jek.2 - 10 1676 c.964T>C c.(964-966)TTC>CTC p.F322L NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 322 Sema.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 CTCAGGTTGAAGACGCACACA 0.612 DNAH5 1767 broad.mit.edu 37 5 13729585 13729585 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr5:13729585A>C uc003jfd.2 - 69 11888 c.11846T>G c.(11845-11847)CTT>CGT p.L3949R DNAH5_uc003jfc.2_Missense_Mutation_p.L117R NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3949 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) GAGTTTGCTAAGTTCCACCAA 0.383 Kartagener_syndrome DNAH5 1767 broad.mit.edu 37 5 13769199 13769199 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr5:13769199T>G uc003jfd.2 - 58 9809 c.9767A>C c.(9766-9768)AAG>ACG p.K3256T DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3256 Stalk (By similarity).|Potential. microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TACCTCAGCCTTGACCTTTTC 0.428 Kartagener_syndrome C5orf23 79614 broad.mit.edu 37 5 32789795 32789795 + Silent SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr5:32789795T>G uc003jhw.1 + 1 851 c.288T>G c.(286-288)ACT>ACG p.T96T NM_024563 NP_078839 hypothetical protein LOC79614 0 AATGCATCACTTTCCTTTTAG 0.418 SPEF2 79925 broad.mit.edu 37 5 35641550 35641550 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr5:35641550T>C uc003jjo.2 + 3 290 c.179T>C c.(178-180)CTT>CCT p.L60P SPEF2_uc003jjn.1_Missense_Mutation_p.L60P|SPEF2_uc003jjq.3_Missense_Mutation_p.L60P NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 60 CH. nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGTGCCAAACTTAATAATTTT 0.368 C5orf42 65250 broad.mit.edu 37 5 37187931 37187931 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr5:37187931T>G uc011cpa.1 - 22 4056 c.3825A>C c.(3823-3825)GAA>GAC p.E1275D C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.E350D|C5orf42_uc011cpb.1_Missense_Mutation_p.E156D NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 1275 ovary(4)|breast(2)|skin(1) 7 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) GAGCACAAAGTTCTCTGAAGC 0.348 HTR1A 3350 broad.mit.edu 37 5 63257405 63257405 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr5:63257405A>C uc011cqt.1 - 1 142 c.142T>G c.(142-144)TTC>GTC p.F48V NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 48 Helical; Name=1; (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) ACCGCGCAGAAGATGAGCGTG 0.602 AGGF1 55109 broad.mit.edu 37 5 76358896 76358896 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr5:76358896G>A uc003ket.2 + 14 2324 c.1964G>A c.(1963-1965)CGA>CAA p.R655Q NM_018046 NP_060516 Q8N302 AGGF1_HUMAN angiogenic factor VG5Q 655 G-patch. angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis extracellular region|perinuclear region of cytoplasm eukaryotic cell surface binding|nucleic acid binding|protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41) CAGCTTCGGCGAACACATGCA 0.443 VCAN 1462 broad.mit.edu 37 5 82815417 82815417 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr5:82815417A>C uc003kii.3 + 7 1648 c.1292A>C c.(1291-1293)AAG>ACG p.K431T VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.K431T|VCAN_uc003kik.3_Intron NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 431 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GGCAGTACCAAGAAGCCCTGG 0.448 VCAN 1462 broad.mit.edu 37 5 82815448 82815448 + Silent SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr5:82815448T>G uc003kii.3 + 7 1679 c.1323T>G c.(1321-1323)CCT>CCG p.P441P VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Silent_p.P441P|VCAN_uc003kik.3_Intron NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 441 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) ACTACTCACCTTCTGCTTCAG 0.473 VCAN 1462 broad.mit.edu 37 5 82836092 82836092 + Silent SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr5:82836092T>C uc003kii.3 + 8 7626 c.7270T>C c.(7270-7272)TTG>CTG p.L2424L VCAN_uc003kij.3_Silent_p.L1437L|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.L1088L NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 2424 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) ACCATCTGACTTGTATTATGA 0.393 VCAN 1462 broad.mit.edu 37 5 82836790 82836790 + Silent SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr5:82836790T>G uc003kii.3 + 8 8324 c.7968T>G c.(7966-7968)ACT>ACG p.T2656T VCAN_uc003kij.3_Silent_p.T1669T|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.T1320T NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 2656 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AATCAATGACTTATGAAGATA 0.448 SNCAIP 9627 broad.mit.edu 37 5 121787094 121787094 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr5:121787094A>C uc003ksw.1 + 10 2758 c.2552A>C c.(2551-2553)AAC>ACC p.N851T SNCAIP_uc011cwl.1_Missense_Mutation_p.N409T|SNCAIP_uc003ksx.1_Missense_Mutation_p.N898T|SNCAIP_uc003ksy.1_Missense_Mutation_p.N485T|SNCAIP_uc003ksz.1_Missense_Mutation_p.N485T|SNCAIP_uc010jcu.2_Missense_Mutation_p.N447T|SNCAIP_uc011cwm.1_Missense_Mutation_p.N485T|SNCAIP_uc003kta.1_Missense_Mutation_p.N483T|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Missense_Mutation_p.N545T|SNCAIP_uc010jcx.1_Missense_Mutation_p.N791T|uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.N367T NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN synuclein alpha interacting protein 851 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding ovary(1)|pancreas(1) 2 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) TCCACAAGTAACGAATCGGGG 0.478 SLC27A6 28965 broad.mit.edu 37 5 128302234 128302234 + Missense_Mutation SNP T T A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr5:128302234T>A uc003kuy.2 + 2 800 c.404T>A c.(403-405)CTC>CAC p.L135H SLC27A6_uc003kuz.2_Missense_Mutation_p.L135H NM_014031 NP_054750 Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid 135 Helical; (Potential). long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding 0 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) GTGGCCTTTCTCAACACCAAC 0.607 PCDHA5 56143 broad.mit.edu 37 5 140203177 140203177 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr5:140203177T>C uc003lhl.2 + 1 1817 c.1817T>C c.(1816-1818)CTT>CCT p.L606P PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.L606P|PCDHA5_uc003lhj.1_Missense_Mutation_p.L606P NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 606 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACGCTTGGCTTTCGTATGAG 0.662 PCDHB3 56132 broad.mit.edu 37 5 140482134 140482134 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr5:140482134A>G uc003lio.2 + 1 1901 c.1901A>G c.(1900-1902)GAC>GGC p.D634G uc003lin.2_5'Flank NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 634 Extracellular (Potential).|Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGCGAGCGCGACGCGGCCAAG 0.692 PCDHGA3 56112 broad.mit.edu 37 5 140723787 140723787 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr5:140723787G>A uc003ljm.1 + 1 187 c.187G>A c.(187-189)GGA>AGA p.G63R PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.G63R NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 63 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCGGAGCGCGGAGTCCGCAT 0.607 OREG0016855 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SPINK5 11005 broad.mit.edu 37 5 147470754 147470754 + Missense_Mutation SNP G G C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr5:147470754G>C uc003lox.2 + 8 702 c.629G>C c.(628-630)CGA>CCA p.R210P SPINK5_uc010jgq.1_RNA|SPINK5_uc010jgs.1_Missense_Mutation_p.R182P|SPINK5_uc010jgr.2_Missense_Mutation_p.R191P|SPINK5_uc003low.2_Missense_Mutation_p.R210P|SPINK5_uc003loy.2_Missense_Mutation_p.R210P NM_006846 NP_006837 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 isoform 210 Kazal-like 3. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity skin(2)|ovary(1)|breast(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AATGCCAAGCGAGAGGGTGAA 0.358 FAT2 2196 broad.mit.edu 37 5 150925275 150925275 + Silent SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr5:150925275A>G uc003lue.3 - 9 5426 c.5413T>C c.(5413-5415)TTG>CTG p.L1805L GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 1805 Extracellular (Potential).|Cadherin 16. 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) TCCGGCTCCAAAATTTTATAG 0.408 FAM114A2 10827 broad.mit.edu 37 5 153390808 153390808 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr5:153390808A>C uc003lvb.2 - 9 1574 c.986T>G c.(985-987)CTT>CGT p.L329R FAM114A2_uc003lvc.2_Missense_Mutation_p.L329R|FAM114A2_uc003lvd.2_Missense_Mutation_p.L329R|FAM114A2_uc003lve.2_Missense_Mutation_p.L145R|FAM114A2_uc011dda.1_Missense_Mutation_p.L259R NM_018691 NP_061161 Q9NRY5 F1142_HUMAN hypothetical protein LOC10827 329 purine nucleotide binding 0 TACCCTGGCAAGTTTCTCTGG 0.378 FAM71B 153745 broad.mit.edu 37 5 156590352 156590352 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr5:156590352T>G uc003lwn.2 - 2 1024 c.924A>C c.(922-924)CAA>CAC p.Q308H NM_130899 NP_570969 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 308 Ala-rich. nucleus ovary(4)|pancreas(1)|skin(1) 6 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTGTGGTCACTTGACCTGGGC 0.512 F13A1 2162 broad.mit.edu 37 6 6145969 6145969 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr6:6145969T>G uc003mwv.2 - 15 2205 c.2082A>C c.(2080-2082)GAA>GAC p.E694D F13A1_uc011dib.1_Missense_Mutation_p.K588T NM_000129 NP_000120 P00488 F13A_HUMAN coagulation factor XIII A1 subunit precursor 694 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1) 6 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) GCCGGCACACTTCTTCCCACT 0.537 SYCP2L 221711 broad.mit.edu 37 6 10903119 10903119 + Silent SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr6:10903119T>C uc003mzo.2 + 8 860 c.564T>C c.(562-564)ACT>ACC p.T188T SYCP2L_uc011din.1_Silent_p.T29T|SYCP2L_uc010jow.2_5'UTR NM_001040274 NP_001035364 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 188 nucleus ovary(1)|skin(1) 2 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) GCTTGAAGACTTTTAACTGCA 0.378 DCDC2 51473 broad.mit.edu 37 6 24291223 24291223 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr6:24291223T>G uc003ndx.2 - 5 943 c.641A>C c.(640-642)AAG>ACG p.K214T DCDC2_uc003ndy.2_Missense_Mutation_p.K214T NM_016356 NP_057440 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 214 Doublecortin 2. cellular defense response|intracellular signal transduction|neuron migration ovary(1) 1 Ovarian(999;0.101) TTTCTTAAACTTATCTCTGCC 0.403 BTN2A2 10385 broad.mit.edu 37 6 26388372 26388372 + Missense_Mutation SNP G G A rs144410497 byFrequency TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr6:26388372G>A uc003nhq.2 + 4 660 c.574G>A c.(574-576)GCC>ACC p.A192T BTN2A2_uc011dkf.1_Missense_Mutation_p.A76T|BTN2A2_uc011dkg.1_Intron|BTN2A2_uc003nhr.2_Missense_Mutation_p.A76T|BTN2A2_uc011dkh.1_Intron|BTN2A2_uc003nhs.2_Missense_Mutation_p.A192T|BTN2A2_uc003nht.2_Missense_Mutation_p.A192T|BTN2A2_uc011dki.1_5'Flank NM_006995 NP_008926 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 isoform a 192 Extracellular (Potential).|Ig-like C2-type. negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane 0 GGTTGTGCCCGCCCTGAAGGA 0.577 OR2J3 442186 broad.mit.edu 37 6 29080491 29080491 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr6:29080491A>C uc011dll.1 + 1 824 c.824A>C c.(823-825)AAG>ACG p.K275T NM_001005216 NP_001005216 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, 275 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GATCAAGGCAAGTTCATTGCC 0.438 C6orf47 57827 broad.mit.edu 37 6 31627482 31627482 + Silent SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr6:31627482C>T uc003nvm.1 - 1 1068 c.243G>A c.(241-243)GAG>GAA p.E81E NM_021184 NP_067007 O95873 CF047_HUMAN G4 protein 81 ovary(1) 1 TCCCTAGCTGCTCAACTTGGG 0.562 COL19A1 1310 broad.mit.edu 37 6 70745826 70745826 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr6:70745826T>G uc003pfc.1 + 14 1282 c.1165T>G c.(1165-1167)TTA>GTA p.L389V COL19A1_uc010kam.1_Missense_Mutation_p.L285V NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 389 Triple-helical region 2 (COL2). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 ACCACCAGCCTTACCTGTAAG 0.303 COQ3 51805 broad.mit.edu 37 6 99819343 99819343 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr6:99819343A>C uc003ppk.2 - 6 877 c.850T>G c.(850-852)TTT>GTT p.F284V NM_017421 NP_059117 Q9NZJ6 COQ3_HUMAN hexaprenyldihydroxybenzoate methyltransferase 284 glycerol metabolic process|ubiquinone biosynthetic process mitochondrial matrix 2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity upper_aerodigestive_tract(1) 1 all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0625) GGTGAAACAAACTTCTCCCAT 0.353 RGS17 26575 broad.mit.edu 37 6 153347643 153347643 + Missense_Mutation SNP G G A rs34438717 TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr6:153347643G>A uc003qpm.2 - 3 311 c.155C>T c.(154-156)GCG>GTG p.A52V NM_012419 NP_036551 Q9UGC6 RGS17_HUMAN regulator of G-protein signalling 17 52 negative regulation of signal transduction cytoplasm|nucleus|plasma membrane GTPase activator activity|signal transducer activity pancreas(1) 1 Ovarian(120;0.126) OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429) GGGTCTTCCCGCATTTTCCCC 0.388 Lung_Cancer_Familial_Clustering_of GPNMB 10457 broad.mit.edu 37 7 23292999 23292999 + Silent SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr7:23292999T>G uc003swc.2 + 2 305 c.144T>G c.(142-144)TCT>TCG p.S48S GPNMB_uc003swa.2_Silent_p.S48S|GPNMB_uc003swb.2_Silent_p.S48S|GPNMB_uc011jyy.1_Silent_p.S48S|GPNMB_uc011jyz.1_Intron NM_001005340 NP_001005340 Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb isoform a 48 Extracellular (Potential). negative regulation of cell proliferation melanosome ovary(3)|breast(2) 5 GBM - Glioblastoma multiforme(13;0.154) ATGGCTGGTCTTCTGATGAAA 0.418 BBS9 27241 broad.mit.edu 37 7 33397593 33397593 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr7:33397593T>G uc003tdn.1 + 16 2192 c.1679T>G c.(1678-1680)CTT>CGT p.L560R BBS9_uc003tdo.1_Missense_Mutation_p.L525R|BBS9_uc003tdp.1_Missense_Mutation_p.L555R|BBS9_uc003tdq.1_Missense_Mutation_p.L520R|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.L84R|BBS9_uc003tds.1_5'UTR|BBS9_uc011kao.1_Missense_Mutation_p.L438R NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN parathyroid hormone-responsive B1 isoform 2 560 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GBM - Glioblastoma multiforme(11;0.0894) GTCAGTCTTCTTAGTCTCTTC 0.388 Bardet-Biedl_syndrome GLI3 2737 broad.mit.edu 37 7 42006192 42006192 + Missense_Mutation SNP G G T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr7:42006192G>T uc011kbh.1 - 15 2570 c.2479C>A c.(2479-2481)CTC>ATC p.L827I GLI3_uc011kbg.1_Missense_Mutation_p.L768I NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 827 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 CTGCCCGGGAGAAGCGTCATG 0.587 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome ZNF117 51351 broad.mit.edu 37 7 64439906 64439906 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr7:64439906A>G uc003ttr.2 - 4 1328 c.43T>C c.(43-45)TAT>CAT p.Y15H NM_015852 NP_056936 Q03924 ZN117_HUMAN zinc finger protein 117 15 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 Lung NSC(55;0.0295)|all_lung(88;0.0691) GCAAAATAATAAAACATAACT 0.323 WBSCR17 64409 broad.mit.edu 37 7 70597831 70597831 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr7:70597831T>G uc003tvy.2 + 1 43 c.43T>G c.(43-45)TTG>GTG p.L15V NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 15 Helical; Signal-anchor for type II membrane protein; (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GGTGTTGAACTTGATCGCGGT 0.687 PCLO 27445 broad.mit.edu 37 7 82544559 82544559 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr7:82544559T>G uc003uhx.2 - 7 13032 c.12743A>C c.(12742-12744)AAT>ACT p.N4248T PCLO_uc003uhv.2_Missense_Mutation_p.N4248T|PCLO_uc010lec.2_Missense_Mutation_p.N1213T NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4179 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GTCTGTAATATTTTTTCTGAG 0.428 PCLO 27445 broad.mit.edu 37 7 82545733 82545733 + Silent SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr7:82545733T>G uc003uhx.2 - 7 11858 c.11569A>C c.(11569-11571)AGA>CGA p.R3857R PCLO_uc003uhv.2_Silent_p.R3857R|PCLO_uc010lec.2_Silent_p.R822R NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3788 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GGAGCAGTTCTTGGTCGCTCA 0.468 PLOD3 8985 broad.mit.edu 37 7 100853686 100853686 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr7:100853686G>A uc003uyd.2 - 14 1996 c.1540C>T c.(1540-1542)CGG>TGG p.R514W PLOD3_uc010lhs.2_Missense_Mutation_p.R79W NM_001084 NP_001075 O60568 PLOD3_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 514 protein modification process rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding ovary(1)|skin(1) 2 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) GCCAGGAGCCGGCCAAATTCA 0.637 IMMP2L 83943 broad.mit.edu 37 7 110526690 110526690 + Missense_Mutation SNP C C G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr7:110526690C>G uc003vfq.1 - 5 810 c.367G>C c.(367-369)GAT>CAT p.D123H IMMP2L_uc010ljr.1_Missense_Mutation_p.D123H NM_032549 NP_115938 Q96T52 IMP2L_HUMAN IMP2 inner mitochondrial membrane protease-like 123 protein processing involved in protein targeting to mitochondrion|proteolysis integral to membrane|mitochondrial inner membrane peptidase complex|nucleus serine-type peptidase activity 0 UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173) CCATGATGATCACCTTCAACC 0.398 RBM33 155435 broad.mit.edu 37 7 155537721 155537721 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr7:155537721G>A uc010lqk.1 + 14 2772 c.2404G>A c.(2404-2406)GAA>AAA p.E802K RBM33_uc011kvv.1_Missense_Mutation_p.E611K|RBM33_uc003wmg.2_5'Flank NM_053043 NP_444271 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 802 Potential. nucleotide binding|RNA binding ovary(1) 1 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) ACGCCTAAGAGAAGAAATCCT 0.463 WDR60 55112 broad.mit.edu 37 7 158695154 158695154 + Missense_Mutation SNP C C A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr7:158695154C>A uc003woe.3 + 10 1383 c.1225C>A c.(1225-1227)CCT>ACT p.P409T WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_5'UTR NM_018051 NP_060521 Q8WVS4 WDR60_HUMAN WD repeat domain 60 409 ovary(2)|breast(1)|central_nervous_system(1) 4 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) GGAAGAACTTCCTCTAGCTCA 0.363 CSMD1 64478 broad.mit.edu 37 8 3265708 3265708 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr8:3265708A>C uc011kwk.1 - 14 2177 c.1787T>G c.(1786-1788)ATT>AGT p.I596S CSMD1_uc011kwj.1_5'UTR NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 596 Extracellular (Potential).|CUB 4. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGGTGACAGAATAATCCCAGA 0.368 SGCZ 137868 broad.mit.edu 37 8 13959935 13959935 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr8:13959935A>C uc003wwq.2 - 7 1354 c.694T>G c.(694-696)TTC>GTC p.F232V SGCZ_uc010lss.2_Missense_Mutation_p.F185V NM_139167 NP_631906 Q96LD1 SGCZ_HUMAN sarcoglycan zeta 219 Extracellular (Potential). cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma ovary(2)|central_nervous_system(1) 3 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) GTGGCCTTGAAGTCTCCTGCA 0.512 TUSC3 7991 broad.mit.edu 37 8 15480646 15480646 + Missense_Mutation SNP T T A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr8:15480646T>A uc003wwt.2 + 2 406 c.196T>A c.(196-198)TTC>ATC p.F66I TUSC3_uc003wwr.2_Missense_Mutation_p.F66I|TUSC3_uc003wws.2_Missense_Mutation_p.F66I|TUSC3_uc003wwu.2_Missense_Mutation_p.F66I|TUSC3_uc003wwv.2_Missense_Mutation_p.F66I|TUSC3_uc003www.2_Missense_Mutation_p.F66I|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.F66I NM_006765 NP_006756 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 isoform a 66 cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex ovary(2)|central_nervous_system(1) 3 Colorectal(111;0.113) ACGCTCAATCTTCCGAATGAA 0.388 TUSC3 7991 broad.mit.edu 37 8 15605922 15605922 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr8:15605922T>C uc003wwt.2 + 9 1186 c.976T>C c.(976-978)TTC>CTC p.F326L TUSC3_uc003wwu.2_Missense_Mutation_p.F326L|TUSC3_uc003wwv.2_Missense_Mutation_p.F326L|TUSC3_uc003www.2_Intron|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Intron NM_006765 NP_006756 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 isoform a 326 Helical; (Potential). cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex ovary(2)|central_nervous_system(1) 3 Colorectal(111;0.113) GGTCTTCTTCTTCAGTTTTCT 0.323 RP1 6101 broad.mit.edu 37 8 55537320 55537320 + Missense_Mutation SNP C C G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr8:55537320C>G uc003xsd.1 + 4 1026 c.878C>G c.(877-879)TCT>TGT p.S293C RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 293 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TTAGACTATTCTTTTGTTCCT 0.299 RP1 6101 broad.mit.edu 37 8 55542278 55542278 + Missense_Mutation SNP T T A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr8:55542278T>A uc003xsd.1 + 4 5984 c.5836T>A c.(5836-5838)TTC>ATC p.F1946I RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1946 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TATTGAAAATTTCTTGGGTTT 0.343 TRPA1 8989 broad.mit.edu 37 8 72951153 72951153 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr8:72951153A>G uc003xza.2 - 19 2417 c.2242T>C c.(2242-2244)TCA>CCA p.S748P uc011lff.1_Intron|uc003xyy.2_Intron NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 748 Extracellular (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) ATGCCAGTTGAGTTGAAAGCC 0.318 CRISPLD1 83690 broad.mit.edu 37 8 75924709 75924709 + Silent SNP T T A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr8:75924709T>A uc003yan.2 + 3 675 c.300T>A c.(298-300)GCT>GCA p.A100A CRISPLD1_uc011lfk.1_5'UTR|CRISPLD1_uc011lfl.1_5'UTR NM_031461 NP_113649 Q9H336 CRLD1_HUMAN cysteine-rich secretory protein LCCL domain 100 extracellular region ovary(1)|central_nervous_system(1) 2 Breast(64;0.0799) Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161) AATCCTGGGCTGAAAGTTGCT 0.438 DCAF4L2 138009 broad.mit.edu 37 8 88885921 88885921 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr8:88885921T>G uc003ydz.2 - 1 376 c.279A>C c.(277-279)GAA>GAC p.E93D NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 93 ovary(1) 1 AGCCTCCAGCTTCGACTTGGT 0.547 MMP16 4325 broad.mit.edu 37 8 89131066 89131066 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr8:89131066A>C uc003yeb.3 - 5 1016 c.734T>G c.(733-735)GTC>GGC p.V245G MMP16_uc003yec.2_Missense_Mutation_p.V245G NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 245 Extracellular (Potential). 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 CAGTTCATGGACTGCTACAAG 0.373 MMP16 4325 broad.mit.edu 37 8 89339369 89339369 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr8:89339369A>C uc003yeb.3 - 1 349 c.67T>G c.(67-69)TTG>GTG p.L23V MMP16_uc003yec.2_Missense_Mutation_p.L23V NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 23 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 AAGGTTTGCAAGAAAAACACC 0.493 PGCP 10404 broad.mit.edu 37 8 97797501 97797501 + Silent SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr8:97797501A>C uc003yhw.2 + 2 542 c.376A>C c.(376-378)AGA>CGA p.R126R PGCP_uc010mbe.2_Silent_p.R126R NM_016134 NP_057218 Q9Y646 PGCP_HUMAN plasma glutamate carboxypeptidase precursor 126 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity upper_aerodigestive_tract(1) 1 Breast(36;1.86e-05) GCTGGAGCCAAGAATTCATAA 0.463 UBR5 51366 broad.mit.edu 37 8 103357767 103357767 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr8:103357767A>C uc003ykr.1 - 8 776 c.743T>G c.(742-744)CTT>CGT p.L248R UBR5_uc003yks.1_Missense_Mutation_p.L248R NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 248 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) GAGAGACATAAGATCCTCTAT 0.383 DPYS 1807 broad.mit.edu 37 8 105436539 105436539 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr8:105436539T>C uc003yly.3 - 7 1300 c.1171A>G c.(1171-1173)AGA>GGA p.R391G NM_001385 NP_001376 Q14117 DPYS_HUMAN dihydropyrimidinase 391 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CTTCCTTTTCTTGGATAGAGA 0.373 TRHR 7201 broad.mit.edu 37 8 110100172 110100172 + Missense_Mutation SNP A A T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr8:110100172A>T uc003ymz.3 + 1 447 c.431A>T c.(430-432)AAG>ATG p.K144M NM_003301 NP_003292 P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 144 Cytoplasmic (Potential). integral to plasma membrane thyrotropin-releasing hormone receptor activity skin(2)|lung(1) 3 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) AGAGCCAAAAAGATTATCATC 0.408 PKHD1L1 93035 broad.mit.edu 37 8 110445390 110445390 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr8:110445390T>G uc003yne.2 + 28 3389 c.3285T>G c.(3283-3285)AGT>AGG p.S1095R NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1095 Extracellular (Potential).|IPT/TIG 4. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTTCTCCTAGTTCAGCTGTAA 0.338 HNSCC(38;0.096) CSMD3 114788 broad.mit.edu 37 8 113304877 113304877 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr8:113304877A>G uc003ynu.2 - 55 8836 c.8677T>C c.(8677-8679)TTT>CTT p.F2893L CSMD3_uc003yns.2_Missense_Mutation_p.F2095L|CSMD3_uc003ynt.2_Missense_Mutation_p.F2853L|CSMD3_uc011lhx.1_Missense_Mutation_p.F2724L NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2893 Extracellular (Potential).|Sushi 19. 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 ACATCATTAAAGTTGAACCCA 0.468 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) CSMD3 114788 broad.mit.edu 37 8 113348960 113348960 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr8:113348960T>C uc003ynu.2 - 44 7099 c.6940A>G c.(6940-6942)AGA>GGA p.R2314G CSMD3_uc003yns.2_Missense_Mutation_p.R1516G|CSMD3_uc003ynt.2_Missense_Mutation_p.R2274G|CSMD3_uc011lhx.1_Missense_Mutation_p.R2210G|CSMD3_uc003ynw.1_Missense_Mutation_p.R25G NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2314 Extracellular (Potential).|CUB 13. 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 GGGGGTACTCTTACAAGCCAA 0.373 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) CSMD3 114788 broad.mit.edu 37 8 113933896 113933896 + Missense_Mutation SNP T T A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr8:113933896T>A uc003ynu.2 - 10 1752 c.1593A>T c.(1591-1593)GAA>GAT p.E531D CSMD3_uc003ynt.2_Missense_Mutation_p.E491D|CSMD3_uc011lhx.1_Missense_Mutation_p.E427D NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 531 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 CAGCAAAAACTTCAGCTATCC 0.378 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) TRPS1 7227 broad.mit.edu 37 8 116631822 116631822 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr8:116631822T>G uc003ynz.2 - 2 923 c.464A>C c.(463-465)AAG>ACG p.K155T TRPS1_uc011lhy.1_Missense_Mutation_p.K159T|TRPS1_uc003yny.2_Missense_Mutation_p.K168T|TRPS1_uc010mcy.2_Missense_Mutation_p.K155T NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 155 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TGGTGACATCTTCTGATCTTC 0.517 Langer-Giedion_syndrome HAS2 3037 broad.mit.edu 37 8 122626941 122626941 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr8:122626941T>G uc003yph.2 - 4 1605 c.1067A>C c.(1066-1068)AAG>ACG p.K356T NM_005328 NP_005319 Q92819 HAS2_HUMAN hyaluronan synthase 2 356 Cytoplasmic (Potential). integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) soft_tissue(10)|ovary(5) 15 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) GAAGTAGGACTTGCTCCAACG 0.438 TG 7038 broad.mit.edu 37 8 133912519 133912519 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr8:133912519G>A uc003ytw.2 + 15 3409 c.3368G>A c.(3367-3369)GGC>GAC p.G1123D TG_uc010mdw.2_Intron NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 1123 Thyroglobulin type-1 9. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TCGGGGGCTGGCACCTGGTGT 0.617 ST3GAL1 6482 broad.mit.edu 37 8 134477158 134477158 + Silent SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr8:134477158C>T uc003yuk.2 - 7 1375 c.546G>A c.(544-546)GGG>GGA p.G182G ST3GAL1_uc003yum.2_Silent_p.G182G NM_173344 NP_775479 Q11201 SIA4A_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 182 Lumenal (Potential). protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity 0 all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.00721) TGGTCTTGGTCCCAACATCAG 0.567 CYP11B1 1584 broad.mit.edu 37 8 143956698 143956698 + Silent SNP T T A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr8:143956698T>A uc003yxi.2 - 7 1159 c.1152A>T c.(1150-1152)CGA>CGT p.R384R CYP11B1_uc010mex.2_Silent_p.R83R|CYP11B1_uc003yxh.2_Silent_p.R100R|CYP11B1_uc003yxj.2_Silent_p.R384R|CYP11B1_uc010mey.2_Silent_p.R455R NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 384 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) AGCTCGCCACTCGCTCCAGAA 0.607 Familial_Hyperaldosteronism_type_I PTPRD 5789 broad.mit.edu 37 9 8436611 8436611 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr9:8436611T>G uc003zkk.2 - 34 4778 c.4067A>C c.(4066-4068)AAG>ACG p.K1356T PTPRD_uc003zkp.2_Missense_Mutation_p.K950T|PTPRD_uc003zkq.2_Missense_Mutation_p.K949T|PTPRD_uc003zkr.2_Missense_Mutation_p.K940T|PTPRD_uc003zks.2_Missense_Mutation_p.K949T|PTPRD_uc003zkl.2_Missense_Mutation_p.K1347T|PTPRD_uc003zkm.2_Missense_Mutation_p.K1343T|PTPRD_uc003zkn.2_Missense_Mutation_p.K945T|PTPRD_uc003zko.2_Missense_Mutation_p.K946T NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1356 Cytoplasmic (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CTGGGAAAACTTCAAGTTGTC 0.338 TSP Lung(15;0.13) ADAMTSL1 92949 broad.mit.edu 37 9 18776993 18776993 + Silent SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr9:18776993G>A uc003zne.3 + 19 2893 c.2766G>A c.(2764-2766)ACG>ACA p.T922T NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 922 Ig-like C2-type 1. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) TCAGCTCGACGCACGTCACGG 0.692 MAMDC2 256691 broad.mit.edu 37 9 72783642 72783642 + Missense_Mutation SNP A A T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr9:72783642A>T uc004ahm.2 + 10 2046 c.1429A>T c.(1429-1431)AGT>TGT p.S477C MAMDC2_uc004ahn.2_RNA|uc004aho.1_Intron NM_153267 NP_694999 Q7Z304 MAMC2_HUMAN MAM domain containing 2 precursor 477 MAM 3. endoplasmic reticulum|membrane central_nervous_system(1)|pancreas(1) 2 CCTATGCAAAAGTTTCTGGGA 0.398 GRIN3A 116443 broad.mit.edu 37 9 104433163 104433163 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr9:104433163T>G uc004bbp.1 - 3 2132 c.1531A>C c.(1531-1533)AGT>CGT p.S511R GRIN3A_uc004bbq.1_Missense_Mutation_p.S511R NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 511 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) TGTAGCTTACTTGGATGTTGG 0.522 SVEP1 79987 broad.mit.edu 37 9 113276307 113276307 + Silent SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr9:113276307G>A uc010mtz.2 - 4 1381 c.1044C>T c.(1042-1044)CAC>CAT p.H348H SVEP1_uc010mua.1_Silent_p.H348H|SVEP1_uc004beu.2_Silent_p.H348H|SVEP1_uc004bev.2_Silent_p.H92H NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 348 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 GTGGAGAGGTGTGATTTTCAT 0.512 C9orf43 257169 broad.mit.edu 37 9 116191605 116191605 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr9:116191605T>G uc004bho.3 + 14 1721 c.1325T>G c.(1324-1326)CTT>CGT p.L442R C9orf43_uc004bhp.2_Missense_Mutation_p.L442R NM_152786 NP_689999 Q8TAL5 CI043_HUMAN hypothetical protein LOC257169 442 0 CTCAAACTACTTAGGATTCTT 0.517 DBC1 1620 broad.mit.edu 37 9 121929578 121929578 + Silent SNP C C T rs141113114 TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr9:121929578C>T uc004bkc.2 - 8 2526 c.2070G>A c.(2068-2070)TCG>TCA p.S690S NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 690 cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 GCATCACTGACGAAGAGGAAT 0.572 TTLL11 158135 broad.mit.edu 37 9 124751548 124751548 + Missense_Mutation SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr9:124751548C>T uc004blt.1 - 4 1653 c.1465G>A c.(1465-1467)GCG>ACG p.A489T TTLL11_uc011lyl.1_Missense_Mutation_p.A489T|TTLL11_uc004blr.2_RNA|TTLL11_uc011lym.1_Missense_Mutation_p.A166T|TTLL11_uc004blu.1_3'UTR NM_194252 NP_919228 Q8NHH1 TTL11_HUMAN tubulin tyrosine ligase-like family, member 11 489 TTL. protein modification process cilium|microtubule basal body tubulin-tyrosine ligase activity 0 GGAGTCAGCGCGATGACCGTC 0.542 TTLL11 158135 broad.mit.edu 37 9 124751858 124751858 + Missense_Mutation SNP C C G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr9:124751858C>G uc004blt.1 - 4 1343 c.1155G>C c.(1153-1155)AAG>AAC p.K385N TTLL11_uc011lyl.1_Missense_Mutation_p.K385N|TTLL11_uc004blr.2_RNA|TTLL11_uc011lym.1_Missense_Mutation_p.K62N|TTLL11_uc004blu.1_3'UTR NM_194252 NP_919228 Q8NHH1 TTL11_HUMAN tubulin tyrosine ligase-like family, member 11 385 TTL. protein modification process cilium|microtubule basal body tubulin-tyrosine ligase activity 0 GAATATCAAACTTGAGCTTGT 0.493 SLC27A4 10999 broad.mit.edu 37 9 131117714 131117714 + Nonsense_Mutation SNP C C A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr9:131117714C>A uc004but.2 + 11 1784 c.1500C>A c.(1498-1500)TAC>TAA p.Y500* SLC27A4_uc004buu.2_Nonsense_Mutation_p.Y94* NM_005094 NP_005085 Q6P1M0 S27A4_HUMAN solute carrier family 27 (fatty acid 500 long-chain fatty acid transport|transmembrane transport integral to membrane fatty acid transporter activity|nucleotide binding|protein binding 0 GCTACCTGTACTTCCGAGACC 0.642 MXRA5 25878 broad.mit.edu 37 X 3240515 3240515 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:3240515T>G uc004crg.3 - 5 3368 c.3211A>C c.(3211-3213)AAT>CAT p.N1071H NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 1071 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) TCTAGCATATTTCCTCCCTGT 0.458 NLGN4X 57502 broad.mit.edu 37 X 5821156 5821156 + Silent SNP G G A rs144614029 TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:5821156G>A uc010ndh.2 - 5 2064 c.1563C>T c.(1561-1563)GCC>GCT p.A521A NLGN4X_uc004crp.2_Silent_p.A541A|NLGN4X_uc004crq.2_Silent_p.A521A|NLGN4X_uc010ndi.2_Silent_p.A558A|NLGN4X_uc004crr.2_Silent_p.A521A|NLGN4X_uc010ndj.2_Silent_p.A521A NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 521 Extracellular (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 TCATGACCACGGCGCTGAGCA 0.512 NLGN4X 57502 broad.mit.edu 37 X 6069148 6069148 + Silent SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:6069148C>T uc010ndh.2 - 2 861 c.360G>A c.(358-360)CTG>CTA p.L120L NLGN4X_uc004crp.2_Silent_p.L120L|NLGN4X_uc004crq.2_Silent_p.L120L|NLGN4X_uc010ndi.2_Silent_p.L120L|NLGN4X_uc004crr.2_Silent_p.L120L|NLGN4X_uc010ndj.2_Silent_p.L120L NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 120 Extracellular (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 GCATGTCATGCAGTAAGGATC 0.493 NLGN4X 57502 broad.mit.edu 37 X 6069402 6069402 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:6069402A>C uc010ndh.2 - 2 607 c.106T>G c.(106-108)TTC>GTC p.F36V NLGN4X_uc004crp.2_Missense_Mutation_p.F36V|NLGN4X_uc004crq.2_Missense_Mutation_p.F36V|NLGN4X_uc010ndi.2_Missense_Mutation_p.F36V|NLGN4X_uc004crr.2_Missense_Mutation_p.F36V|NLGN4X_uc010ndj.2_Missense_Mutation_p.F36V NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 36 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 ATGAGGGTGAACTTGATGGCA 0.502 FAM9A 171482 broad.mit.edu 37 X 8763146 8763146 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:8763146T>G uc004csg.2 - 7 915 c.804A>C c.(802-804)GAA>GAC p.E268D NM_174951 NP_777611 Q8IZU1 FAM9A_HUMAN family with sequence similarity 9, member A 268 Glu-rich. nucleolus 0 Hepatocellular(5;0.219) cctcttcttcttcttcctctt 0.129 MOSPD2 158747 broad.mit.edu 37 X 14913459 14913459 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:14913459T>G uc004cwi.2 + 4 353 c.265T>G c.(265-267)TTA>GTA p.L89V MOSPD2_uc004cwj.2_Missense_Mutation_p.L26V NM_152581 NP_689794 Q8NHP6 MSPD2_HUMAN motile sperm domain containing 2 89 CRAL-TRIO. integral to membrane structural molecule activity lung(1) 1 Hepatocellular(33;0.183) TCCCAGATGGTTATTGGAAAT 0.299 CXorf36 79742 broad.mit.edu 37 X 45060041 45060041 + Missense_Mutation SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:45060041C>T uc004dgg.2 - 1 106 c.31G>A c.(31-33)GCC>ACC p.A11T CXorf36_uc004dgi.3_Missense_Mutation_p.A11T NM_176819 NP_789789 Q9H7Y0 CX036_HUMAN hypothetical protein LOC79742 isoform 1 11 extracellular region lung(1) 1 GGGCGGAGGGCGGCAGCCTCA 0.652 ZNF182 7569 broad.mit.edu 37 X 47836329 47836329 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:47836329T>G uc004dir.2 - 7 1503 c.1157A>C c.(1156-1158)AAG>ACG p.K386T ZNF182_uc004dis.2_Missense_Mutation_p.K367T|ZNF182_uc004dit.2_Missense_Mutation_p.K386T|ZNF182_uc011mlu.1_Missense_Mutation_p.K366T NM_006962 NP_008893 P17025 ZN182_HUMAN zinc finger protein 21 isoform 1 386 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|lung(1) 3 GAGAGTTGACTTATCACTGAA 0.368 SUV39H1 6839 broad.mit.edu 37 X 48559088 48559088 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:48559088G>A uc004dkn.2 + 3 817 c.772G>A c.(772-774)GTC>ATC p.V258I SUV39H1_uc011mmf.1_Missense_Mutation_p.V269I|SUV39H1_uc011mmg.1_RNA NM_003173 NP_003164 O43463 SUV91_HUMAN suppressor of variegation 3-9 homolog 1 258 Mediates interaction with MECOM (By similarity).|SET. cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding 0 TGGCTGGGGCGTCCGCACCCT 0.602 CCNB3 85417 broad.mit.edu 37 X 50090646 50090646 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:50090646A>G uc004dox.3 + 11 4130 c.3832A>G c.(3832-3834)ACA>GCA p.T1278A CCNB3_uc004doy.2_Missense_Mutation_p.T1278A|CCNB3_uc004doz.2_Missense_Mutation_p.T174A|CCNB3_uc010njq.2_Missense_Mutation_p.T170A|CCNB3_uc004dpa.2_Missense_Mutation_p.T117A NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 1278 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) CAACATGAAGACACTGACCTT 0.498 PHF8 23133 broad.mit.edu 37 X 54037563 54037563 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:54037563A>G uc004dsu.2 - 8 1119 c.1046T>C c.(1045-1047)ATT>ACT p.I349T PHF8_uc004dst.2_Missense_Mutation_p.I313T|PHF8_uc004dsv.2_Missense_Mutation_p.I179T|PHF8_uc004dsw.2_Missense_Mutation_p.I313T|PHF8_uc004dsx.2_Missense_Mutation_p.I77T|PHF8_uc004dsy.2_Missense_Mutation_p.I313T NM_015107 NP_055922 Q9UPP1 PHF8_HUMAN PHD finger protein 8 349 JmjC. brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(3) 3 ACCTGTGGGAATGAAAAGTGT 0.507 GNL3L 54552 broad.mit.edu 37 X 54578117 54578117 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:54578117A>C uc004dth.1 + 11 1119 c.980A>C c.(979-981)AAG>ACG p.K327T GNL3L_uc004dti.2_RNA NM_019067 NP_061940 Q9NVN8 GNL3L_HUMAN guanine nucleotide binding protein-like 3 327 ribosome biogenesis nucleolus GTP binding ovary(1) 1 CACGTGCAGAAGCTGGCAGAC 0.617 ITIH5L 347365 broad.mit.edu 37 X 54783779 54783779 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:54783779T>C uc004dtj.2 - 8 2758 c.2728A>G c.(2728-2730)AGT>GGT p.S910G NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 910 Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 CCTGTGGAACTTGAGATTGTA 0.557 ITIH5L 347365 broad.mit.edu 37 X 54783936 54783936 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:54783936T>G uc004dtj.2 - 8 2601 c.2571A>C c.(2569-2571)AAA>AAC p.K857N NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 857 Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 GGGCACTCGGTTTAAGAGATA 0.517 TRO 7216 broad.mit.edu 37 X 54951444 54951444 + Silent SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:54951444A>G uc004dtq.2 + 6 1535 c.1428A>G c.(1426-1428)CAA>CAG p.Q476Q TRO_uc004dts.2_Silent_p.Q476Q|TRO_uc004dtr.2_Silent_p.Q476Q|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_RNA|TRO_uc004dtv.2_Silent_p.Q79Q|TRO_uc011mok.1_Silent_p.Q7Q|TRO_uc004dtw.2_Silent_p.Q79Q|TRO_uc004dtx.2_5'UTR NM_001039705 NP_001034794 Q12816 TROP_HUMAN trophinin isoform 5 476 MAGE. embryo implantation|homophilic cell adhesion integral to plasma membrane ovary(1) 1 ATGTCATCCAAGAATATGATG 0.517 APEX2 27301 broad.mit.edu 37 X 55033430 55033430 + Silent SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:55033430A>G uc004dtz.2 + 6 1195 c.1119A>G c.(1117-1119)CAA>CAG p.Q373Q APEX2_uc011mom.1_Silent_p.Q202Q NM_014481 NP_055296 Q9UBZ4 APEX2_HUMAN apurinic/apyrimidinic endonuclease 2 373 cell cycle|DNA recombination|DNA repair nucleus DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding breast(1) 1 ACAAAGCCCAAGTGCGCTCAA 0.547 Other_BER_factors FAM123B 139285 broad.mit.edu 37 X 63411809 63411809 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:63411809A>G uc004dvo.2 - 2 1631 c.1358T>C c.(1357-1359)CTT>CCT p.L453P NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 453 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 AGGAGTCAAAAGTTCCCCAGG 0.532 PJA1 64219 broad.mit.edu 37 X 68381908 68381908 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:68381908T>C uc004dxh.2 - 2 1460 c.1174A>G c.(1174-1176)AGC>GGC p.S392G PJA1_uc011mpi.1_Missense_Mutation_p.S110G|PJA1_uc004dxg.2_Missense_Mutation_p.S204G|PJA1_uc004dxi.2_Missense_Mutation_p.S337G NM_145119 NP_660095 Q8NG27 PJA1_HUMAN praja 1 isoform a 392 zinc ion binding 0 GTCTCCCAGCTTTCGCCACTG 0.587 TAF1 6872 broad.mit.edu 37 X 70598122 70598122 + Missense_Mutation SNP A A T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:70598122A>T uc004dzu.3 + 7 1019 c.968A>T c.(967-969)CAA>CTA p.Q323L BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.Q344L NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 323 Protein kinase 1. G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1) 17 Renal(35;0.156) all_lung(315;0.000321) AAATTTTCCCAATCAACTGGA 0.468 PGK1 5230 broad.mit.edu 37 X 77380399 77380399 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:77380399A>G uc004ecz.3 + 9 1137 c.965A>G c.(964-966)AAG>AGG p.K322R PGK1_uc010nlz.2_RNA|PGK1_uc011mqq.1_Missense_Mutation_p.K294R NM_000291 NP_000282 P00558 PGK1_HUMAN phosphoglycerate kinase 1 322 gluconeogenesis|glycolysis cytosol ATP binding|phosphoglycerate kinase activity upper_aerodigestive_tract(1)|ovary(1) 2 GAAAGCAGCAAGAAGTATGCT 0.507 P2RY10 27334 broad.mit.edu 37 X 78216571 78216571 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:78216571T>C uc004ede.2 + 4 923 c.554T>C c.(553-555)CTT>CCT p.L185P P2RY10_uc004edf.2_Missense_Mutation_p.L185P NM_014499 NP_055314 O00398 P2Y10_HUMAN G-protein coupled purinergic receptor P2Y10 185 Extracellular (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(2)|breast(1) 5 TTTGCTGATCTTGGATACAAG 0.478 CHM 1121 broad.mit.edu 37 X 85211343 85211343 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:85211343T>G uc004eet.2 - 8 1011 c.981A>C c.(979-981)CAA>CAC p.Q327H CHM_uc011mqz.1_Missense_Mutation_p.Q179H NM_000390 NP_000381 P24386 RAE1_HUMAN choroideremia isoform a 327 intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity ovary(1) 1 all_lung(315;5.41e-06) GGGTTAATTTTTGAGTCTTTA 0.328 PABPC5 140886 broad.mit.edu 37 X 90691203 90691203 + Silent SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:90691203C>T uc004efg.2 + 2 1067 c.627C>T c.(625-627)GAC>GAT p.D209D PABPC5_uc004eff.1_Silent_p.D45D NM_080832 NP_543022 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 209 RRM 3. cytoplasm nucleotide binding|RNA binding ovary(1)|lung(1)|pancreas(1) 3 TTGGAGACGACATAGATGACG 0.423 PCDH19 57526 broad.mit.edu 37 X 99663303 99663303 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:99663303T>C uc010nmz.2 - 1 1969 c.293A>G c.(292-294)AAG>AGG p.K98R PCDH19_uc004efw.3_Missense_Mutation_p.K98R|PCDH19_uc004efx.3_Missense_Mutation_p.K98R NM_020766 NP_001098713 Q8TAB3 PCD19_HUMAN protocadherin 19 isoform b 98 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 7 GATGATGCACTTGGGGCTCTG 0.557 ZMAT1 84460 broad.mit.edu 37 X 101139416 101139416 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:101139416T>C uc004eim.2 - 2 3968 c.470A>G c.(469-471)AAG>AGG p.K157R ZMAT1_uc011mrl.1_Missense_Mutation_p.K328R|ZMAT1_uc004ein.2_Missense_Mutation_p.K157R|ZMAT1_uc011mrm.1_Missense_Mutation_p.K157R NM_032441 NP_115817 Q5H9K5 ZMAT1_HUMAN zinc finger, matrin type 1 isoform 3 157 nucleus zinc ion binding ovary(1) 1 CTCTCTCATCTTTCTGAAACA 0.403 PSMD10 5716 broad.mit.edu 37 X 107331217 107331217 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:107331217G>A uc004enp.1 - 3 424 c.326C>T c.(325-327)CCC>CTC p.P109L PSMD10_uc004enq.1_Missense_Mutation_p.P109L|PSMD10_uc010nph.1_Intron NM_002814 NP_002805 O75832 PSD10_HUMAN proteasome 26S non-ATPase subunit 10 isoform 1 109 ANK 4.|Interaction with RELA. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cytoplasmic sequestering of NF-kappaB|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of MAPKKK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of release of cytochrome c from mitochondria|negative regulation of transcription from RNA polymerase II promoter|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus|proteasome regulatory particle transcription factor binding ovary(1) 1 ATAATGTAAGGGAGTACAGCC 0.438 ALG13 79868 broad.mit.edu 37 X 110951264 110951264 + Silent SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:110951264T>G uc011msy.1 + 4 427 c.393T>G c.(391-393)ACT>ACG p.T131T ALG13_uc011msw.1_Silent_p.T53T|ALG13_uc011msx.1_Silent_p.T27T|ALG13_uc011msz.1_Silent_p.T53T|ALG13_uc011mta.1_Silent_p.T27T|ALG13_uc011mtb.1_Silent_p.T27T Q9NP73 ALG13_HUMAN SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae); 131 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity lung(1) 1 GGGTCCTGACTTGTCCTGGGC 0.522 ZCCHC16 340595 broad.mit.edu 37 X 111698541 111698541 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:111698541A>C uc004epo.1 + 3 1026 c.585A>C c.(583-585)GAA>GAC p.E195D NM_001004308 NP_001004308 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 195 nucleic acid binding|zinc ion binding ovary(1) 1 ACCAGGATGAAGAGAGTGTCA 0.468 IL13RA2 3598 broad.mit.edu 37 X 114238661 114238661 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:114238661T>G uc004epx.2 - 10 1250 c.1125A>C c.(1123-1125)GAA>GAC p.E375D NM_000640 NP_000631 Q14627 I13R2_HUMAN interleukin 13 receptor, alpha 2 precursor 375 Cytoplasmic (Potential). extracellular space|integral to membrane|soluble fraction cytokine receptor activity p.E375K(1) upper_aerodigestive_tract(1)|ovary(1)|lung(1) 3 CACAGAAAAATTCTGGAATCT 0.333 NKAP 79576 broad.mit.edu 37 X 119068469 119068469 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:119068469T>G uc004esh.2 - 5 892 c.725A>C c.(724-726)AAG>ACG p.K242T NKAP_uc004esg.2_Missense_Mutation_p.K129T NM_024528 NP_078804 Q8N5F7 NKAP_HUMAN NFKB activating protein 242 Necessary for interaction with CIR1.|Lys-rich. negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|protein binding ovary(2) 2 TCTGTGTTTCTTCTTCTTTTC 0.194 THOC2 57187 broad.mit.edu 37 X 122769999 122769999 + Missense_Mutation SNP A A T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:122769999A>T uc004etu.2 - 19 1981 c.1949T>A c.(1948-1950)TTT>TAT p.F650Y THOC2_uc011muh.1_Missense_Mutation_p.F575Y NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 650 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding ovary(3) 3 ATATTTACGAAAAACTGCACC 0.323 ODZ1 10178 broad.mit.edu 37 X 123556129 123556129 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:123556129A>C uc004euj.2 - 23 4507 c.4443T>G c.(4441-4443)TGT>TGG p.C1481W ODZ1_uc011muj.1_Missense_Mutation_p.C1487W|ODZ1_uc010nqy.2_Missense_Mutation_p.C1488W NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 1481 Extracellular (Potential).|NHL 5. immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 TACCTGAAAAACAGTCACAGT 0.433 GPR112 139378 broad.mit.edu 37 X 135427928 135427928 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:135427928A>G uc004ezu.1 + 6 2354 c.2063A>G c.(2062-2064)GAG>GGG p.E688G GPR112_uc010nsb.1_Missense_Mutation_p.E483G|GPR112_uc010nsc.1_Missense_Mutation_p.E455G NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 688 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) GCATTTCATGAGAATACTACT 0.423 FGF13 2258 broad.mit.edu 37 X 137717662 137717662 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:137717662T>G uc004fam.2 - 4 1219 c.557A>C c.(556-558)AAG>ACG p.K186T FGF13_uc004fan.2_Missense_Mutation_p.K133T|FGF13_uc011mwi.1_Missense_Mutation_p.K167T|FGF13_uc004faq.2_Missense_Mutation_p.K196T|FGF13_uc004far.2_Missense_Mutation_p.K167T|FGF13_uc011mwj.1_Missense_Mutation_p.K196T|FGF13_uc011mwk.1_Missense_Mutation_p.K140T NM_004114 NP_004105 Q92913 FGF13_HUMAN fibroblast growth factor 13 isoform 1 186 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) CTTGTTCTTCTTCACATGGTT 0.403 ATP11C 286410 broad.mit.edu 37 X 138828012 138828012 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:138828012T>C uc004faz.2 - 25 2941 c.2842A>G c.(2842-2844)ATT>GTT p.I948V ATP11C_uc004fax.2_Missense_Mutation_p.I156V|ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.I948V NM_173694 NP_775965 Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C isoform a 948 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(5)|large_intestine(3) 8 Acute lymphoblastic leukemia(192;0.000127) TTGCCAGAAATTTTCCTATTG 0.398 SLITRK2 84631 broad.mit.edu 37 X 144906229 144906229 + Silent SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:144906229A>G uc004fcd.2 + 5 3276 c.2286A>G c.(2284-2286)CGA>CGG p.R762R SLITRK2_uc010nsp.2_Silent_p.R762R|SLITRK2_uc010nso.2_Silent_p.R762R|SLITRK2_uc011mwq.1_Silent_p.R762R|SLITRK2_uc011mwr.1_Silent_p.R762R|SLITRK2_uc011mws.1_Silent_p.R762R|SLITRK2_uc004fcg.2_Silent_p.R762R|SLITRK2_uc011mwt.1_Silent_p.R762R|CXorf1_uc004fch.2_5'Flank NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 762 Cytoplasmic (Potential). integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) TTGCTGAGCGAGTCAAGGAAC 0.493 FMR1 2332 broad.mit.edu 37 X 147011719 147011719 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:147011719T>G uc010nst.2 + 7 775 c.586T>G c.(586-588)TTG>GTG p.L196V FMR1_uc011mwz.1_Missense_Mutation_p.L196V|FMR1_uc004fcj.2_Missense_Mutation_p.L196V|FMR1_uc004fck.3_Missense_Mutation_p.L196V|FMR1_uc004fcl.3_Missense_Mutation_p.L57V|FMR1_uc011mxa.1_5'UTR NM_002024 NP_002015 Q06787 FMR1_HUMAN fragile X mental retardation 1 196 mRNA transport|negative regulation of translational initiation cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction mRNA binding|protein binding ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) GCGCACTAAGTTGTCTCTGAT 0.398 Fragile_X_syndrome AFF2 2334 broad.mit.edu 37 X 147744022 147744022 + Missense_Mutation SNP A A T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:147744022A>T uc004fcp.2 + 3 1253 c.774A>T c.(772-774)TTA>TTT p.L258F AFF2_uc004fco.2_Missense_Mutation_p.L254F|AFF2_uc004fcq.2_Missense_Mutation_p.L254F|AFF2_uc004fcr.2_Missense_Mutation_p.L254F|AFF2_uc011mxb.1_Missense_Mutation_p.L258F|AFF2_uc004fcs.2_Missense_Mutation_p.L254F NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 258 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) CTTCCTCTTTATTAGCTCCTA 0.488 PASD1 139135 broad.mit.edu 37 X 150844474 150844474 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:150844474A>C uc004fev.3 + 16 2513 c.2181A>C c.(2179-2181)CAA>CAC p.Q727H NM_173493 NP_775764 Q8IV76 PASD1_HUMAN PAS domain containing 1 727 nucleus signal transducer activity ovary(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) GGCAGGTGCAAGTTTCTGAGG 0.502 FATE1 89885 broad.mit.edu 37 X 150885864 150885864 + Missense_Mutation SNP A A T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:150885864A>T uc004fex.2 + 2 311 c.227A>T c.(226-228)AAG>ATG p.K76M NM_033085 NP_149076 Q969F0 FATE1_HUMAN fetal and adult testis expressed transcript 76 endoplasmic reticulum|integral to membrane ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) ACCCGACCCAAGAAAATGGTA 0.567 MAGEA10 4109 broad.mit.edu 37 X 151304051 151304051 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:151304051T>G uc004ffk.2 - 5 450 c.42A>C c.(40-42)GAA>GAC p.E14D MAGEA10_uc004ffl.2_Missense_Mutation_p.E14D NM_001011543 NP_001011543 P43363 MAGAA_HUMAN melanoma antigen family A, 10 14 0 Acute lymphoblastic leukemia(192;6.56e-05) ATTGAAGATCTTCTTCAGGCA 0.567 GABRA3 2556 broad.mit.edu 37 X 151393246 151393246 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:151393246T>C uc010ntk.1 - 6 863 c.623A>G c.(622-624)AAG>AGG p.K208R NM_000808 NP_000799 P34903 GBRA3_HUMAN gamma-aminobutyric acid A receptor, alpha 3 208 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GCTTCCAAACTTCAGTGGGCA 0.373 GDI1 2664 broad.mit.edu 37 X 153666940 153666940 + Silent SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chrX:153666940C>T uc004fli.3 + 2 459 c.117C>T c.(115-117)TAC>TAT p.Y39Y GDI1_uc011mzo.1_Silent_p.Y39Y NM_001493 NP_001484 P31150 GDIA_HUMAN GDP dissociation inhibitor 1 39 protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|midbody GTPase activator activity|protein binding 0 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ACCCCTACTACGGGGGCGAGA 0.617 COL11A1 1301 broad.mit.edu 37 1 103491428 103491428 + Frame_Shift_Del DEL G G - TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr1:103491427_103491427TG>T uc001dum.3 - 5 1180 c.862_862CA>A c.(862-864)aaafs p.K288fs COL11A1_uc001duk.3_Intron|COL11A1_uc001dul.3_Intron|COL11A1_uc001dun.3_Intron|COL11A1_uc009weh.3_Intron NM_080629 NP_542196 P12107 COBA1_HUMAN Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. 290 Nonhelical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging p.P287P(1) NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTTTCAGATTTGGGGGGTGTA 0.343 CASP8 841 broad.mit.edu 37 2 202150023 202150024 + Frame_Shift_Del DEL GA GA - TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr2:202150022_202150023TGA>T uc002uxr.1 + 8 1495_1496 c.1286_1287TGA>T c.(1285-1287)ctgfs p.L429fs CASP8_uc002uxq.1_Frame_Shift_Del_p.L414fs|CASP8_uc002uxp.1_Frame_Shift_Del_p.L446fs|CASP8_uc002uxu.1_Non-coding_Transcript|CASP8_uc002uxt.1_Frame_Shift_Del_p.L488fs|CASP8_uc002uxw.1_Frame_Shift_Del_p.L414fs|CASP8_uc010ftf.2_Frame_Shift_Del_p.L345fs NM_033355 NP_203519 Q14790 CASP8_HUMAN Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant B, mRNA. 429 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 TGCCAGAGCCTGAGAGAGCGAT 0.515 HNSCC(4;0.00038) COL1A2 1278 broad.mit.edu 37 7 94057068 94057069 + Frame_Shift_Ins INS - - TATGA TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr7:94057067_94057068C>CTATGA uc003ung.1 + 48 3867_3868 c.3396_3397C>CTATGA c.(3394-3399)gactatfs p.D1132fs COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA. 1132 Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) GACCCAAGGACTATGAAGTTGA 0.510 HNSCC(75;0.22) FAM135B 51059 broad.mit.edu 37 8 139165017 139165017 + Frame_Shift_Del DEL T T - TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr8:139165016_139165016GT>G uc003yuy.3 - 12 1873 c.1702_1702AC>C c.(1702-1704)cccfs p.P568fs FAM135B_uc003yux.3_Frame_Shift_Del_p.P469fs|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Frame_Shift_Del_p.P130fs|FAM135B_uc003yvb.3_Frame_Shift_Del_p.P130fs NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 568 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GCCACCAGGGGTTCAGCTCTG 0.502 HNSCC(54;0.14) C11orf48 79081 broad.mit.edu 37 11 62430750 62430752 + In_Frame_Del DEL GGA GGA - TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr11:62430749_62430751TGGA>T uc001nuf.3 - 5 934_936 c.718_720TCCA>A c.(718-720)cca>A p.P240del METTL12_uc001nug.1_5'Flank|METTL12_uc001nuh.3_5'Flank|SNORA57_uc009yoa.1_5'Flank|METTL12_uc010rmc.1_5'Flank NM_024099 NP_077004 Q9BQE6 CK048_HUMAN Homo sapiens chromosome 11 open reading frame 48 (C11orf48), mRNA. 266 endometrium(1)|lung(5)|urinary_tract(1) 7 CCGGATCTGCTGGAGGAGTTTTC 0.502 PSG2 5670 broad.mit.edu 37 19 43579745 43579745 + Frame_Shift_Del DEL T T - TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb g.chr19:43579744_43579744GT>G uc002ovr.3 - 2 643 c.471_471AC>C c.(469-471)aacfs p.N157fs PSG4_uc010xwk.1_Intron NM_031246 NP_112536 P11465 PSG2_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA. 157 Ig-like C2-type 1. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) CCTCCCTGGGGTTTAAGTTGC 0.522