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 SLC2A5 6518 broad.mit.edu 37 1 9117573 9117573 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr1:9117573G>A uc001apo.2 - 3 519 c.227C>T c.(226-228)TCC>TTC p.S76F SLC2A5_uc010nzz.1_Intron|SLC2A5_uc010oaa.1_Missense_Mutation_p.S32F|SLC2A5_uc010oab.1_Missense_Mutation_p.S76F|SLC2A5_uc010oac.1_Missense_Mutation_p.S76F|SLC2A5_uc001app.3_Missense_Mutation_p.S76F NM_003039 NP_003030 P22732 GTR5_HUMAN solute carrier family 2 (facilitated 76 Helical; Name=2; (Potential). carbohydrate metabolic process integral to membrane|plasma membrane fructose transmembrane transporter activity|glucose transmembrane transporter activity pancreas(2)|ovary(1) 3 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) TGGAAACATGGACACGGTTAC 0.453000 ARHGEF19 128272 broad.mit.edu 37 1 16531296 16531296 + Missense_Mutation SNP A A C TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr1:16531296A>C uc001ayc.1 - 12 2002 c.1865T>G c.(1864-1866)CTC>CGC p.L622R ARHGEF19_uc009voo.1_5'UTR|ARHGEF19_uc001ayb.1_Missense_Mutation_p.L99R NM_153213 NP_694945 Q8IW93 ARHGJ_HUMAN Rho guanine nucleotide exchange factor (GEF) 19 622 PH. regulation of actin cytoskeleton organization intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity skin(2)|ovary(1) 3 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649) GAAGAGGTGGAGGTAGACTGC 0.622000 CSMD2 114784 broad.mit.edu 37 1 34128512 34128512 + Silent SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr1:34128512C>T uc001bxn.1 - 26 4142 c.4113G>A c.(4111-4113)CAG>CAA p.Q1371Q CSMD2_uc001bxm.1_Silent_p.Q1411Q|CSMD2_uc001bxo.1_Silent_p.Q284Q NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1371 CUB 8.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGGCAAAGCCCTGCTTGCTGG 0.587000 AGBL4 84871 broad.mit.edu 37 1 49056558 49056558 + Missense_Mutation SNP T T C TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr1:49056558T>C uc001cru.2 - 10 1209 c.1051A>G c.(1051-1053)AGG>GGG p.R351G AGBL4_uc010omw.1_Missense_Mutation_p.R84G|AGBL4_uc010omx.1_Missense_Mutation_p.R363G|AGBL4_uc001crv.1_Missense_Mutation_p.R204G|AGBL4_uc010omy.1_Missense_Mutation_p.R174G NM_032785 NP_116174 Q5VU57 CBPC6_HUMAN ATP/GTP binding protein-like 4 351 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(1)|breast(1) 2 Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037) ATGGCCTGCCTCTGGAACCGT 0.517000 COL11A1 1301 broad.mit.edu 37 1 103444943 103444943 + Missense_Mutation SNP C C A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr1:103444943C>A uc001dul.2 - 32 2923 c.2605G>T c.(2605-2607)GCA>TCA p.A869S COL11A1_uc001duk.2_Missense_Mutation_p.A65S|COL11A1_uc001dum.2_Missense_Mutation_p.A881S|COL11A1_uc001dun.2_Missense_Mutation_p.A830S|COL11A1_uc009weh.2_Missense_Mutation_p.A753S NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 869 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) CATACCCGTGCACCTTTCTCT 0.254000 NTNG1 22854 broad.mit.edu 37 1 107691253 107691253 + Nonsense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr1:107691253G>A uc001dvh.3 + 2 756 c.38G>A c.(37-39)TGG>TAG p.W13* NTNG1_uc001dvf.3_Nonsense_Mutation_p.W13*|NTNG1_uc010out.1_Nonsense_Mutation_p.W13*|NTNG1_uc001dvc.3_Nonsense_Mutation_p.W13*|NTNG1_uc001dvd.1_Nonsense_Mutation_p.W13* NM_001113226 NP_001106697 Q9Y2I2 NTNG1_HUMAN netrin G1 isoform 1 13 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) CATGCCCTTTGGGTTACGGTG 0.413000 FAM63A 55793 broad.mit.edu 37 1 150974704 150974704 + Silent SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr1:150974704G>A uc001ewf.2 - 3 2074 c.390C>T c.(388-390)ACC>ACT p.T130T FAM63A_uc001ewc.2_5'UTR|FAM63A_uc010pcm.1_Silent_p.T35T|FAM63A_uc001ewd.2_5'UTR|FAM63A_uc001ewe.2_Intron|FAM63A_uc010pcn.1_Silent_p.T178T|FAM63A_uc001ewg.2_Silent_p.T130T NM_018379 NP_001156731 Q8N5J2 FA63A_HUMAN hypothetical protein LOC55793 isoform 1 130 protein binding ovary(1) 1 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TAGTGCTCTGGGTGATGATGG 0.517000 FLG 2312 broad.mit.edu 37 1 152277360 152277360 + Silent SNP C C A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr1:152277360C>A uc001ezu.1 - 3 10038 c.10002G>T c.(10000-10002)GGG>GGT p.G3334G NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3334 Filaggrin 20.|Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TACCACTGGACCCCCAGTGTC 0.582000 Ichthyosis FLG 2312 broad.mit.edu 37 1 152277694 152277694 + Missense_Mutation SNP C C A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr1:152277694C>A uc001ezu.1 - 3 9704 c.9668G>T c.(9667-9669)GGA>GTA p.G3223V NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3223 Filaggrin 19.|Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTCTGAATGTCCCTCACTGTC 0.577000 Ichthyosis NES 10763 broad.mit.edu 37 1 156640628 156640628 + Missense_Mutation SNP C C G TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr1:156640628C>G uc001fpq.2 - 4 3485 c.3352G>C c.(3352-3354)GAG>CAG p.E1118Q NM_006617 NP_006608 P48681 NEST_HUMAN nestin 1118 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TCCATCACCTCTTCCCTGGTC 0.652000 ZNF648 127665 broad.mit.edu 37 1 182026767 182026767 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr1:182026767G>A uc001goz.2 - 2 587 c.379C>T c.(379-381)CCC>TCC p.P127S NM_001009992 NP_001009992 Q5T619 ZN648_HUMAN zinc finger protein 648 127 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AGACCACTGGGAAGGGAACCC 0.557000 HSD11B1 3290 broad.mit.edu 37 1 209880290 209880290 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr1:209880290G>A uc001hhj.2 + 5 441 c.334G>A c.(334-336)GGA>AGA p.G112R HSD11B1_uc001hhk.2_Missense_Mutation_p.G112R NM_181755 NP_861420 P28845 DHI1_HUMAN 11-beta-hydroxysteroid dehydrogenase 1 112 Lumenal (Potential). glucocorticoid biosynthetic process endoplasmic reticulum membrane|integral to membrane 11-beta-hydroxysteroid dehydrogenase (NADP+) activity|11-beta-hydroxysteroid dehydrogenase|binding breast(1) 1 OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115) NADH(DB00157) TCTTGCAGGAGGACTAGACAT 0.438000 ARHGAP22 58504 broad.mit.edu 37 10 49654578 49654578 + Missense_Mutation SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr10:49654578C>T uc001jgt.2 - 10 2250 c.1953G>A c.(1951-1953)ATG>ATA p.M651I ARHGAP22_uc001jgs.2_Missense_Mutation_p.M561I|ARHGAP22_uc001jgu.2_Missense_Mutation_p.M667I|ARHGAP22_uc010qgl.1_Missense_Mutation_p.M608I|ARHGAP22_uc010qgm.1_Missense_Mutation_p.M657I|ARHGAP22_uc001jgv.2_Missense_Mutation_p.M349I|ARHGAP22_uc001jgr.2_Missense_Mutation_p.M368I NM_021226 NP_067049 Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 2 651 Potential. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity ovary(1) 1 TTATTTCCAGCATGATGTATT 0.488000 DHX32 55760 broad.mit.edu 37 10 127525345 127525345 + Missense_Mutation SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr10:127525345C>T uc001ljf.1 - 11 2634 c.2143G>A c.(2143-2145)GAT>AAT p.D715N BCCIP_uc001ljd.3_Intron|DHX32_uc001lje.1_Missense_Mutation_p.D339N|DHX32_uc001ljg.1_Missense_Mutation_p.D715N|BCCIP_uc010qui.1_Intron|BCCIP_uc001ljc.3_Intron|BCCIP_uc010quj.1_Intron NM_018180 NP_060650 Q7L7V1 DHX32_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32 715 mitochondrion|nucleus ATP binding|helicase activity breast(2)|ovary(1)|lung(1) 4 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) GATAGGTGATCCACTACTTGC 0.423000 INPP5A 3632 broad.mit.edu 37 10 134459401 134459401 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr10:134459401G>A uc001llp.2 + 3 395 c.147G>A c.(145-147)ATG>ATA p.M49I INPP5A_uc001llo.1_Missense_Mutation_p.M49I|INPP5A_uc001llq.2_Missense_Mutation_p.M1I NM_005539 NP_005530 Q14642 I5P1_HUMAN inositol polyphosphate-5-phosphatase A 49 cell communication membrane inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding skin(1) 1 all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326) CGCACTTCATGGCCTTGCACT 0.597000 MUC5B 727897 broad.mit.edu 37 11 1159361 1159361 + Silent SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr11:1159361C>T uc009ycr.1 + 12 1464 c.1338C>T c.(1336-1338)GAC>GAT p.D446D NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 437 VWFD 2. 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) CAACGTTTGACGGGAAGCAAT 0.647000 OR52B4 143496 broad.mit.edu 37 11 4389175 4389175 + Missense_Mutation SNP C C A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr11:4389175C>A uc010qye.1 - 1 351 c.351G>T c.(349-351)TTG>TTT p.L117F NM_001005161 NP_001005161 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, 117 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) CCATCACCAGCAAGATCCCTG 0.468000 NELL1 4745 broad.mit.edu 37 11 21135238 21135238 + Silent SNP T T C TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr11:21135238T>C uc001mqe.2 + 13 1557 c.1404T>C c.(1402-1404)CGT>CGC p.R468R NELL1_uc001mqf.2_Silent_p.R468R|NELL1_uc009yid.2_Silent_p.R496R|NELL1_uc010rdo.1_Silent_p.R411R|NELL1_uc010rdp.1_Silent_p.R228R NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 468 EGF-like 2; calcium-binding (Potential). cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 GATACATTCGTGTGGATGACT 0.408000 OR4A15 81328 broad.mit.edu 37 11 55135685 55135685 + Missense_Mutation SNP T T A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr11:55135685T>A uc010rif.1 + 1 326 c.326T>A c.(325-327)ATG>AAG p.M109K NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 109 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GCTCCCAAAATGATTGTTGAC 0.413000 SUV420H1 51111 broad.mit.edu 37 11 67926371 67926371 + Missense_Mutation SNP T T C TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr11:67926371T>C uc001onm.1 - 11 1698 c.1442A>G c.(1441-1443)AAA>AGA p.K481R SUV420H1_uc009yse.1_Missense_Mutation_p.K67R|SUV420H1_uc001onn.1_Missense_Mutation_p.K309R|SUV420H1_uc009ysf.2_Missense_Mutation_p.K241R NM_017635 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 isoform 481 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(2)|kidney(1) 3 CAGAACTACTTTAGGCTCTTT 0.433000 CLSTN3 9746 broad.mit.edu 37 12 7293961 7293961 + Nonsense_Mutation SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr12:7293961C>T uc001qsr.2 + 9 1725 c.1447C>T c.(1447-1449)CGA>TGA p.R483* CLSTN3_uc001qss.2_Nonsense_Mutation_p.R495* NM_014718 NP_055533 Q9BQT9 CSTN3_HUMAN calsyntenin 3 precursor 483 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding large_intestine(1) 1 CCACCCACCCCGAAGGGAGCC 0.572000 OREG0021650 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) LST-3TM12 338821 broad.mit.edu 37 12 21205043 21205043 + Nonsense_Mutation SNP A A T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr12:21205043A>T uc010sin.1 + 9 1204 c.1204A>T c.(1204-1206)AGA>TGA p.R402* SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Nonsense_Mutation_p.R449* NM_001009562 NP_001009562 Q71QF0 Q71QF0_HUMAN liver-specific organic anion transporter 3TM12 402 membrane transporter activity 0 TAGTCCAGTAAGATCTCATGT 0.249000 ABCC9 10060 broad.mit.edu 37 12 22061124 22061124 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr12:22061124G>A uc001rfi.1 - 9 1362 c.1342C>T c.(1342-1344)CTC>TTC p.L448F ABCC9_uc001rfh.2_Missense_Mutation_p.L448F|ABCC9_uc001rfj.1_Missense_Mutation_p.L448F NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 448 Extracellular (Potential).|ABC transmembrane type-1 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AAATTATAGAGCAGAATCACG 0.423000 CSRP2 1466 broad.mit.edu 37 12 77254166 77254166 + Silent SNP A A G TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr12:77254166A>G uc001syl.1 - 4 392 c.309T>C c.(307-309)AAT>AAC p.N103N NM_001321 NP_001312 Q16527 CSRP2_HUMAN cysteine and glycine-rich protein 2 103 multicellular organismal development nucleus zinc ion binding ovary(1) 1 AAGTGTTTGGATTTGTTGTAG 0.428000 HAL 3034 broad.mit.edu 37 12 96387251 96387251 + Silent SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr12:96387251G>A uc001tem.1 - 8 864 c.567C>T c.(565-567)AAC>AAT p.N189N HAL_uc009zti.1_RNA|HAL_uc010suw.1_5'UTR|HAL_uc010sux.1_Silent_p.N189N NM_002108 NP_002099 P42357 HUTH_HUMAN histidine ammonia-lyase 189 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity ovary(2)|skin(1) 3 L-Histidine(DB00117) AGCGTACTAAGTTGACCTGAA 0.438000 CPNE6 9362 broad.mit.edu 37 14 24542739 24542739 + Missense_Mutation SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr14:24542739C>T uc001wll.2 + 3 299 c.200C>T c.(199-201)TCC>TTC p.S67F CPNE6_uc010tnv.1_Missense_Mutation_p.S122F|CPNE6_uc001wlm.2_5'UTR|CPNE6_uc001wln.2_5'Flank NM_006032 NP_006023 O95741 CPNE6_HUMAN copine 6 67 C2 1. lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport calcium ion binding|transporter activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.0184) CGCTCCTGTTCCAGCCCTGTC 0.592000 HERC2 8924 broad.mit.edu 37 15 28459349 28459349 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr15:28459349G>A uc001zbj.2 - 41 6534 c.6428C>T c.(6427-6429)GCG>GTG p.A2143V NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 2143 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CACCTCCTCCGCCAGTGTGCT 0.647000 AP3B2 8120 broad.mit.edu 37 15 83345298 83345298 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr15:83345298G>A uc010uoh.1 - 14 1757 c.1580C>T c.(1579-1581)GCC>GTC p.A527V AP3B2_uc010uoi.1_Missense_Mutation_p.A527V|AP3B2_uc010uoj.1_Missense_Mutation_p.A495V|AP3B2_uc010uog.1_Missense_Mutation_p.A163V NM_004644 NP_004635 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 527 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity ovary(3)|breast(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.229) GAATGACTTGGCCATTTTTCT 0.507000 ADAMTS17 170691 broad.mit.edu 37 15 100801697 100801697 + Missense_Mutation SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr15:100801697C>T uc002bvv.1 - 6 1097 c.1018G>A c.(1018-1020)GTG>ATG p.V340M ADAMTS17_uc002bvx.1_Missense_Mutation_p.V97M NM_139057 NP_620688 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 340 Peptidase M12B. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) GTCACAAACACGGCAGCATCC 0.537000 GLYR1 84656 broad.mit.edu 37 16 4882012 4882012 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr16:4882012G>A uc002cxx.3 - 5 542 c.505C>T c.(505-507)CGG>TGG p.R169W GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Missense_Mutation_p.R100W|GLYR1_uc002cya.2_Missense_Mutation_p.R169W|GLYR1_uc010uxv.1_Intron NM_032569 NP_115958 Q49A26 GLYR1_HUMAN cytokine-like nuclear factor n-pac 169 A.T hook. pentose-phosphate shunt nucleus coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity 0 CCCCGCTTCCGGGGACTTTGC 0.502000 ZNF768 79724 broad.mit.edu 37 16 30537361 30537361 + Missense_Mutation SNP C C G TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr16:30537361C>G uc002dyk.3 - 2 276 c.100G>C c.(100-102)GAG>CAG p.E34Q ZNF768_uc010vex.1_Missense_Mutation_p.E3Q|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.E3Q NM_024671 NP_078947 Q9H5H4 ZN768_HUMAN zinc finger protein 768 34 Poly-Glu. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding 0 TCCTCATTCTCACTCATGTTG 0.413000 ANKRD13B 124930 broad.mit.edu 37 17 27936185 27936185 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr17:27936185G>A uc002hei.2 + 6 760 c.647G>A c.(646-648)CGG>CAG p.R216Q ANKRD13B_uc002heh.2_Missense_Mutation_p.R84Q|ANKRD13B_uc002hej.2_RNA NM_152345 NP_689558 Q86YJ7 AN13B_HUMAN ankyrin repeat domain 13B 216 0 GGGCAGGACCGGGAGCTGCTG 0.627000 CLTC 1213 broad.mit.edu 37 17 57744325 57744325 + Missense_Mutation SNP C C G TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr17:57744325C>G uc002ixq.1 + 13 2558 c.2115C>G c.(2113-2115)TTC>TTG p.F705L CLTC_uc002ixp.2_Missense_Mutation_p.F705L|CLTC_uc002ixr.1_Missense_Mutation_p.F709L NM_004859 NP_004850 Q00610 CLH1_HUMAN clathrin heavy chain 1 705 Heavy chain arm.|Proximal segment. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1) 48 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) TTGAATCTTTCAAGAGTTTTG 0.358000 T ALK|TFE3 ALCL|renal INO80C 125476 broad.mit.edu 37 18 33077741 33077741 + Missense_Mutation SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr18:33077741C>T uc002kyy.3 - 1 215 c.98G>A c.(97-99)AGC>AAC p.S33N INO80C_uc002kyw.1_Missense_Mutation_p.S33N|INO80C_uc002kyx.3_5'Flank|INO80C_uc010dmt.2_Missense_Mutation_p.S33N NM_194281 NP_919257 Q6PI98 IN80C_HUMAN Ies6-similar protein isoform 2 33 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex|MLL1 complex 0 GCCCCCGCCGCTGCTGCCATT 0.627000 TUBB4 10382 broad.mit.edu 37 19 6495529 6495529 + Silent SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr19:6495529G>A uc002mfg.1 - 4 1088 c.981C>T c.(979-981)GAC>GAT p.D327D TUBB4_uc002mff.1_Silent_p.D255D|MIR220B_hsa-mir-220b|MI0005529_5'Flank NM_006087 NP_006078 P04350 TBB4_HUMAN tubulin, beta 4 327 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(2) 2 Hepatocellular(1079;0.00213)|Renal(1328;0.0183) Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155) GCATCTGCTCGTCCACCTCCT 0.657000 GRIK5 2901 broad.mit.edu 37 19 42546812 42546812 + Silent SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr19:42546812G>A uc002osj.1 - 11 1400 c.1365C>T c.(1363-1365)GCC>GCT p.A455A GRIK5_uc002osi.1_Silent_p.A27A|GRIK5_uc010eib.1_Silent_p.A374A NM_002088 NP_002079 Q16478 GRIK5_HUMAN glutamate receptor KA2 precursor 455 Extracellular (Potential). cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity 0 Prostate(69;0.059) L-Glutamic Acid(DB00142) GCAGCAGCTCGGCCAGCTCCC 0.682000 PXDN 7837 broad.mit.edu 37 2 1647316 1647316 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr2:1647316G>A uc002qxa.2 - 19 3840 c.3776C>T c.(3775-3777)CCG>CTG p.P1259L NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 1259 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CAGCTGGGCCGGGGAGAACAC 0.587000 KIDINS220 57498 broad.mit.edu 37 2 8873723 8873723 + Missense_Mutation SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr2:8873723C>T uc002qzc.2 - 29 4086 c.3904G>A c.(3904-3906)GGT>AGT p.G1302S KIDINS220_uc010yiv.1_Missense_Mutation_p.G1011S|KIDINS220_uc002qzd.2_Missense_Mutation_p.G1203S|KIDINS220_uc002qzb.2_Missense_Mutation_p.G156S NM_020738 NP_065789 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate of 220 kDa 1302 Cytoplasmic (Potential). activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GCAGGCTCACCGTGCGGGGCT 0.577000 THADA 63892 broad.mit.edu 37 2 43732809 43732809 + Silent SNP T T C TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr2:43732809T>C uc002rsw.3 - 24 3925 c.3573A>G c.(3571-3573)TTA>TTG p.L1191L THADA_uc010far.2_Silent_p.L460L|THADA_uc002rsx.3_Silent_p.L1191L|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Silent_p.L900L|THADA_uc010fat.1_Silent_p.L338L|THADA_uc002rta.2_Silent_p.L901L NM_001083953 NP_001077422 Q6YHU6 THADA_HUMAN thyroid adenoma associated 1191 binding ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) CCAAAGAGATTAACTCTTTCA 0.368000 LRRTM1 347730 broad.mit.edu 37 2 80529981 80529981 + Missense_Mutation SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr2:80529981C>T uc002sok.1 - 2 1234 c.964G>A c.(964-966)GTG>ATG p.V322M CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 322 LRRCT.|Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 AGGGCACACACGTTGCGCCCG 0.632000 HNSCC(69;0.2) ITGA4 3676 broad.mit.edu 37 2 182322539 182322539 + Missense_Mutation SNP G G T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr2:182322539G>T uc002unu.2 + 1 921 c.158G>T c.(157-159)GGC>GTC p.G53V ITGA4_uc002unt.2_Missense_Mutation_p.G53V|ITGA4_uc010zfl.1_Missense_Mutation_p.G53V NM_000885 NP_000876 P13612 ITA4_HUMAN integrin alpha 4 precursor 53 FG-GAP 1.|Extracellular (Potential). blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) ACGCTGTTCGGCTACTCGGTC 0.647000 ICA1L 130026 broad.mit.edu 37 2 203693599 203693599 + Missense_Mutation SNP G G C TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr2:203693599G>C uc002uzh.1 - 3 298 c.134C>G c.(133-135)TCT>TGT p.S45C ICA1L_uc002uzi.1_Missense_Mutation_p.S45C|ICA1L_uc002uzj.2_Missense_Mutation_p.S45C|ICA1L_uc002uzk.1_Missense_Mutation_p.S45C NM_138468 NP_612477 Q8NDH6 ICA1L_HUMAN islet cell autoantigen 1,69kDa-like isoform 1 45 AH. 0 TTCAGCATCAGACGCCACCAA 0.403000 ALPPL2 251 broad.mit.edu 37 2 233274532 233274532 + Missense_Mutation SNP C C A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr2:233274532C>A uc002vss.3 + 11 1602 c.1549C>A c.(1549-1551)CCT>ACT p.P517T NM_031313 NP_112603 P10696 PPBN_HUMAN placental-like alkaline phosphatase 517 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding skin(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) CGCGTTGCTTCCTCTGCTGGC 0.746000 ALPI 248 broad.mit.edu 37 2 233323432 233323432 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr2:233323432G>A uc002vst.3 + 10 1351 c.1274G>A c.(1273-1275)CGA>CAA p.R425Q ALPI_uc002vsu.3_Missense_Mutation_p.R336Q NM_001631 NP_001622 P09923 PPBI_HUMAN intestinal alkaline phosphatase precursor 425 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding central_nervous_system(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) TCAGGCGTGCGACCAGACGTG 0.652000 PRNP 5621 broad.mit.edu 37 20 4680251 4680251 + Missense_Mutation SNP A A G rs1799990 byFrequency TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr20:4680251A>G uc002wku.2 + 2 748 c.385A>G c.(385-387)ATG>GTG p.M129V PRNP_uc002wkv.2_Missense_Mutation_p.M129V|PRNP_uc002wkw.2_Missense_Mutation_p.M129V|PRNP_uc002wkx.2_Missense_Mutation_p.M129V|PRNP_uc002wkt.1_Missense_Mutation_p.M99V|PRNP_uc002wky.2_Missense_Mutation_p.M129V|PRNP_uc010gbe.1_Missense_Mutation_p.M129V NM_001080122 NP_001073591 P04156 PRIO_HUMAN prion protein preproprotein 129 Interaction with GRB2, ERI3 and SYN1 (By similarity). axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane copper ion binding|identical protein binding|microtubule binding p.M129V(1) central_nervous_system(1) 1 Tetracycline(DB00759) TGGCGGCTACATGCTGGGAAG 0.547000 C20orf186 149954 broad.mit.edu 37 20 31692670 31692670 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr20:31692670G>A uc010zue.1 + 14 1750 c.1735G>A c.(1735-1737)GCA>ACA p.A579T NM_182519 NP_872325 P59827 LPLC4_HUMAN antimicrobial peptide RY2G5 precursor 579 cytoplasm|extracellular region lipid binding 0 ATTCATGCCCGCAATGAACGG 0.572000 R3HDML 140902 broad.mit.edu 37 20 42979392 42979392 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr20:42979392G>A uc002xls.1 + 5 894 c.722G>A c.(721-723)TGC>TAC p.C241Y NM_178491 NP_848586 Q9H3Y0 CRSPL_HUMAN R3H domain containing-like precursor 241 extracellular region peptidase inhibitor activity 0 Myeloproliferative disorder(115;0.028) COAD - Colon adenocarcinoma(18;0.00189) AGCAACATGTGCTTCAAGGGG 0.557000 GTPBP5 26164 broad.mit.edu 37 20 60770905 60770905 + Silent SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr20:60770905C>T uc002yce.3 + 3 290 c.252C>T c.(250-252)AAC>AAT p.N84N GTPBP5_uc011aab.1_Translation_Start_Site|GTPBP5_uc011aac.1_Translation_Start_Site|GTPBP5_uc011aad.1_Translation_Start_Site|GTPBP5_uc011aae.1_Translation_Start_Site|GTPBP5_uc011aaf.1_Silent_p.N84N|GTPBP5_uc011aag.1_Silent_p.N84N NM_015666 NP_056481 Q9H4K7 GTPB5_HUMAN GTP binding protein 5 84 Localized in the mitocondria.|Not localized in the mitocondria. ribosome biogenesis mitochondrion GTP binding|GTPase activity|magnesium ion binding 0 Breast(26;3.52e-09) BRCA - Breast invasive adenocarcinoma(19;2.5e-08) GTGGAGGAAACGGAGGCGCTG 0.542000 GTPBP5 26164 broad.mit.edu 37 20 60773769 60773769 + Missense_Mutation SNP C C T rs138156304 byFrequency TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr20:60773769C>T uc002yce.3 + 5 586 c.548C>T c.(547-549)GCG>GTG p.A183V GTPBP5_uc011aab.1_5'UTR|GTPBP5_uc011aac.1_5'UTR|GTPBP5_uc011aad.1_5'UTR|GTPBP5_uc011aae.1_5'UTR|GTPBP5_uc011aaf.1_Intron|GTPBP5_uc011aag.1_Missense_Mutation_p.A183V NM_015666 NP_056481 Q9H4K7 GTPB5_HUMAN GTP binding protein 5 183 Localized in the mitocondria.|Not localized in the mitocondria. ribosome biogenesis mitochondrion GTP binding|GTPase activity|magnesium ion binding 0 Breast(26;3.52e-09) BRCA - Breast invasive adenocarcinoma(19;2.5e-08) TACATTGCCGCGCTGGGCGGG 0.637000 HPS4 89781 broad.mit.edu 37 22 26868841 26868841 + Missense_Mutation SNP C C A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr22:26868841C>A uc003acl.2 - 5 1000 c.341G>T c.(340-342)GGA>GTA p.G114V HPS4_uc003aci.2_Missense_Mutation_p.G109V|HPS4_uc003acj.2_5'UTR|HPS4_uc003ack.2_5'UTR|HPS4_uc003acn.2_5'UTR|HPS4_uc010gvd.1_Missense_Mutation_p.G114V|HPS4_uc003ach.2_5'Flank NM_022081 NP_071364 Q9NQG7 HPS4_HUMAN light ear protein isoform a 114 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity 0 ATTAAAGAATCCAACTAGCTG 0.398000 Hermansky-Pudlak_syndrome BRD1 23774 broad.mit.edu 37 22 50216631 50216631 + Silent SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr22:50216631C>T uc003biv.2 - 1 1822 c.1335G>A c.(1333-1335)CCG>CCA p.P445P BRD1_uc011arf.1_5'UTR|BRD1_uc011arg.1_Silent_p.P445P|BRD1_uc011arh.1_Silent_p.P445P|BRD1_uc003biu.3_Silent_p.P445P NM_014577 NP_055392 O95696 BRD1_HUMAN bromodomain containing protein 1 445 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) CGCACACGGTCGGCAGGACCG 0.572000 RBM5 10181 broad.mit.edu 37 3 50147860 50147860 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr3:50147860G>A uc003cyg.2 + 16 1475 c.1327G>A c.(1327-1329)GCT>ACT p.A443T RBM5_uc011bdj.1_Missense_Mutation_p.A387T|RBM5_uc011bdk.1_Missense_Mutation_p.A271T|RBM5_uc003cyh.2_5'Flank NM_005778 NP_005769 P52756 RBM5_HUMAN RNA binding motif protein 5 443 Required for interaction with U2AF2. apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGCCCCAGCCGCTTCCCCTAC 0.453000 KCTD6 200845 broad.mit.edu 37 3 58487062 58487062 + Silent SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr3:58487062C>T uc003dkj.3 + 3 534 c.417C>T c.(415-417)ATC>ATT p.I139I KCTD6_uc003dki.3_Silent_p.I139I|KCTD6_uc003dkk.3_Silent_p.I139I NM_001128214 NP_001121686 Q8NC69 KCTD6_HUMAN potassium channel tetramerisation domain 139 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(1) 1 BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148) TGGCTGTCATCATAACGCAAC 0.423000 WDR49 151790 broad.mit.edu 37 3 167223127 167223127 + Missense_Mutation SNP G G T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr3:167223127G>T uc003fev.1 - 13 2102 c.1796C>A c.(1795-1797)CCT>CAT p.P599H WDR49_uc003feu.1_Missense_Mutation_p.P424H|WDR49_uc011bpd.1_Missense_Mutation_p.P564H|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN WD repeat domain 49 599 large_intestine(1)|ovary(1)|skin(1) 3 ACCATAATAAGGTTTTTGTGT 0.259000 AASDH 132949 broad.mit.edu 37 4 57221393 57221393 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr4:57221393G>A uc003hbn.2 - 6 1211 c.1058C>T c.(1057-1059)GCG>GTG p.A353V AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Missense_Mutation_p.A200V|AASDH_uc003hbo.2_Missense_Mutation_p.A253V|AASDH_uc011cab.1_5'UTR|AASDH_uc010ihc.2_Missense_Mutation_p.A353V|AASDH_uc003hbp.2_Missense_Mutation_p.A353V NM_181806 NP_861522 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 353 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding ovary(4) 4 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) ATAAATGGTCGCCCAACTTGA 0.373000 LRRC14B 389257 broad.mit.edu 37 5 195112 195112 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr5:195112G>A uc003jal.1 + 2 1217 c.1189G>A c.(1189-1191)GGG>AGG p.G397R NM_001080478 NP_001073947 A6NHZ5 LR14B_HUMAN leucine rich repeat containing 14B 397 LRR 5. skin(1) 1 CAAGTTCCTCGGGAACCCGCT 0.662000 PDZD2 23037 broad.mit.edu 37 5 32088031 32088031 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr5:32088031G>A uc003jhl.2 + 20 4865 c.4477G>A c.(4477-4479)GCC>ACC p.A1493T PDZD2_uc003jhm.2_Missense_Mutation_p.A1493T NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 1493 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 TGGTGCCCCCGCCTACCCACA 0.592000 DEPDC1B 55789 broad.mit.edu 37 5 59983029 59983029 + Missense_Mutation SNP C C T rs141738735 TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr5:59983029C>T uc003jsh.2 - 2 147 c.74G>A c.(73-75)CGT>CAT p.R25H DEPDC1B_uc011cqm.1_Missense_Mutation_p.R25H|DEPDC1B_uc011cqn.1_Translation_Start_Site NM_018369 NP_060839 Q8WUY9 DEP1B_HUMAN DEP domain containing 1B isoform 1 25 DEP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1) 1 Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17) CATCTTAGCACGAAAAAGCTC 0.428000 MAP1B 4131 broad.mit.edu 37 5 71495792 71495792 + Missense_Mutation SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr5:71495792C>T uc003kbw.3 + 5 6851 c.6610C>T c.(6610-6612)CCC>TCC p.P2204S MAP1B_uc010iyw.1_Missense_Mutation_p.P2221S|MAP1B_uc010iyx.1_Missense_Mutation_p.P2078S|MAP1B_uc010iyy.1_Missense_Mutation_p.P2078S NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 2204 microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) ACCTCCAGCTCCCGTGCAAGA 0.567000 PCDHB7 56129 broad.mit.edu 37 5 140554549 140554549 + Silent SNP G G T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr5:140554549G>T uc003lit.2 + 1 2307 c.2133G>T c.(2131-2133)CTG>CTT p.L711L PCDHB8_uc011dai.1_5'Flank NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 711 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGGTGCGGCTGTGCAGGAGGA 0.682000 PCDHB8 56128 broad.mit.edu 37 5 140558070 140558070 + Missense_Mutation SNP C C T rs17844484 TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr5:140558070C>T uc011dai.1 + 1 641 c.455C>T c.(454-456)GCG>GTG p.A152V PCDHB16_uc003liv.2_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 152 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTGGGACTGCGTTTCCTCTG 0.433000 PCDHB9 56127 broad.mit.edu 37 5 140568480 140568480 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr5:140568480G>A uc003liw.1 + 3 1589 c.1589G>A c.(1588-1590)CGC>CAC p.R530H NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN protocadherin beta 9 precursor 530 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCGACTTCCGCGTGGGCGCC 0.667000 PPP2R2B 5521 broad.mit.edu 37 5 145980014 145980014 + Missense_Mutation SNP T T C TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr5:145980014T>C uc003loe.2 - 7 1325 c.800A>G c.(799-801)GAG>GGG p.E267G PPP2R2B_uc010jgm.2_Missense_Mutation_p.E256G|PPP2R2B_uc003log.3_Missense_Mutation_p.E267G|PPP2R2B_uc003lof.3_Missense_Mutation_p.E267G|PPP2R2B_uc003loi.3_Missense_Mutation_p.E270G|PPP2R2B_uc003loh.3_Missense_Mutation_p.E267G|PPP2R2B_uc003loj.3_Missense_Mutation_p.E247G|PPP2R2B_uc003lok.3_Missense_Mutation_p.E256G|PPP2R2B_uc011dbu.1_Missense_Mutation_p.E273G|PPP2R2B_uc011dbv.1_Missense_Mutation_p.E325G NM_004576 NP_004567 Q00005 2ABB_HUMAN beta isoform of regulatory subunit B55, protein 267 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity ovary(1)|prostate(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATCTTCCGGCTCTTCAAAAAC 0.413000 DOCK2 1794 broad.mit.edu 37 5 169445986 169445986 + Silent SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr5:169445986C>T uc003maf.2 + 33 3335 c.3255C>T c.(3253-3255)ATC>ATT p.I1085I DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.I577I NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1085 Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCTGCTTCATCCCAGGCATGG 0.488000 HIST1H2AE 3012 broad.mit.edu 37 6 26217505 26217505 + Silent SNP G G C TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr6:26217505G>C uc003nha.1 + 1 358 c.303G>C c.(301-303)GTG>GTC p.V101V HIST1H2BG_uc003ngz.2_5'Flank NM_021052 NP_066390 P04908 H2A1B_HUMAN histone cluster 1, H2ae 101 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|skin(1) 2 all_hematologic(11;0.196) TAGGTCGCGTGACCATCGCGC 0.577000 BAT3 7917 broad.mit.edu 37 6 31614268 31614268 + Missense_Mutation SNP A A G TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr6:31614268A>G uc003nvg.3 - 8 1153 c.839T>C c.(838-840)CTC>CCC p.L280P BAT3_uc003nvf.3_Missense_Mutation_p.L274P|BAT3_uc003nvh.3_Missense_Mutation_p.L274P|BAT3_uc003nvi.3_Missense_Mutation_p.L274P|BAT3_uc011dnw.1_Missense_Mutation_p.L274P|BAT3_uc011dnx.1_Missense_Mutation_p.L274P|BAT3_uc003nvj.1_Missense_Mutation_p.L274P NM_004639 NP_004630 P46379 BAG6_HUMAN HLA-B associated transcript-3 isoform a 280 4 X 29 AA approximate repeats. apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding 0 TAGCTCCTGGAGCACCTCGAC 0.582000 ZNF318 24149 broad.mit.edu 37 6 43305127 43305127 + Silent SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr6:43305127C>T uc003oux.2 - 10 6687 c.6609G>A c.(6607-6609)CTG>CTA p.L2203L ZNF318_uc003ouw.2_Intron NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN zinc finger protein 318 2203 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(3)|breast(2)|central_nervous_system(1)|skin(1) 7 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) GCCCCAACTCCAGGGAACTAC 0.468000 DST 667 broad.mit.edu 37 6 56416992 56416992 + Missense_Mutation SNP T T G TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr6:56416992T>G uc003pdf.2 - 55 10269 c.10241A>C c.(10240-10242)AAC>ACC p.N3414T DST_uc003pcz.3_Missense_Mutation_p.N3236T|DST_uc011dxj.1_Missense_Mutation_p.N3265T|DST_uc011dxk.1_Missense_Mutation_p.N3276T|DST_uc003pcy.3_Missense_Mutation_p.N2910T NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 5322 Spectrin 7. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CTTGAACATGTTAAGCTGCTG 0.358000 GRM1 2911 broad.mit.edu 37 6 146755495 146755495 + Missense_Mutation SNP G G A rs140795616 TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr6:146755495G>A uc010khw.1 + 9 3618 c.3148G>A c.(3148-3150)GCG>ACG p.A1050T GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 1050 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GGATTTTCACGCGGTGCTGGC 0.667000 LRP11 84918 broad.mit.edu 37 6 150158579 150158579 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr6:150158579G>A uc003qng.2 - 4 1258 c.934C>T c.(934-936)CGC>TGC p.R312C LRP11_uc003qnh.1_Missense_Mutation_p.R312C NM_032832 NP_116221 Q86VZ4 LRP11_HUMAN low density lipoprotein receptor-related protein 312 Extracellular (Potential).|LDL-receptor class A. integral to membrane receptor activity 0 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225) AAGTGGTAGCGTGAGCAAGTG 0.507000 SDK1 221935 broad.mit.edu 37 7 4088991 4088991 + Missense_Mutation SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr7:4088991C>T uc003smx.2 + 18 2753 c.2614C>T c.(2614-2616)CCC>TCC p.P872S SDK1_uc010kso.2_Missense_Mutation_p.P148S NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 872 Fibronectin type-III 3. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GCCCACCGCGCCCCCGCAGAA 0.567000 GAL3ST4 79690 broad.mit.edu 37 7 99757823 99757823 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr7:99757823G>A uc003utt.2 - 3 2206 c.1189C>T c.(1189-1191)CGG>TGG p.R397W C7orf43_uc010lgp.2_5'Flank|C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.R397W|GAL3ST4_uc010lgq.2_Missense_Mutation_p.R335W NM_024637 NP_078913 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 397 Lumenal (Potential). cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane|membrane fraction 3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity ovary(3) 3 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CGGCGAGCCCGGAGCTCGGCC 0.607000 C7orf51 222950 broad.mit.edu 37 7 100086807 100086807 + Missense_Mutation SNP C C T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr7:100086807C>T uc003uvd.1 + 4 1622 c.1463C>T c.(1462-1464)ACG>ATG p.T488M C7orf51_uc003uve.1_Missense_Mutation_p.T270M NM_173564 NP_775835 Q6ZVC0 CG051_HUMAN hypothetical protein FLJ37538 488 skin(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GAGCCAAAGACGGAGAAGGAG 0.642000 GIMAP8 155038 broad.mit.edu 37 7 150171184 150171184 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr7:150171184G>A uc003whj.2 + 4 1097 c.767G>A c.(766-768)CGC>CAC p.R256H NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 256 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) GTGGGGAAACGCGGTGCTGGA 0.557000 DUSP26 78986 broad.mit.edu 37 8 33454943 33454943 + Missense_Mutation SNP T T C TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr8:33454943T>C uc003xjp.2 - 2 424 c.91A>G c.(91-93)ACC>GCC p.T31A DUSP26_uc003xjq.2_Missense_Mutation_p.T31A NM_024025 NP_076930 Q9BV47 DUS26_HUMAN dual specificity phosphatase 26 31 Golgi apparatus|nucleus protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111) TCCTCCAGGGTCCCTCGAGTT 0.542000 RSPO2 340419 broad.mit.edu 37 8 108972950 108972950 + Nonsense_Mutation SNP C C A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr8:108972950C>A uc003yms.2 - 4 1037 c.379G>T c.(379-381)GAA>TAA p.E127* RSPO2_uc003ymq.2_Nonsense_Mutation_p.E60*|RSPO2_uc003ymr.2_Nonsense_Mutation_p.E64* NM_178565 NP_848660 Q6UXX9 RSPO2_HUMAN R-spondin family, member 2 precursor 127 FU. Wnt receptor signaling pathway extracellular region heparin binding p.E127V(1) skin(3)|ovary(2)|pancreas(1)|lung(1) 7 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) TCTGGACATTCATCAAAGCAA 0.368000 KCNQ3 3786 broad.mit.edu 37 8 133492525 133492525 + Silent SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr8:133492525G>A uc003ytj.2 - 1 480 c.255C>T c.(253-255)ATC>ATT p.I85I KCNQ3_uc010mdt.2_Silent_p.I85I NM_004519 NP_004510 O43525 KCNQ3_HUMAN potassium voltage-gated channel KQT-like protein 85 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CCAGGAGCCCGATGCCCTGCG 0.682000 TMEM71 137835 broad.mit.edu 37 8 133759333 133759333 + Silent SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr8:133759333G>A uc003ytp.2 - 5 571 c.342C>T c.(340-342)TGC>TGT p.C114C TMEM71_uc003ytm.1_5'UTR|TMEM71_uc003ytn.2_Intron|TMEM71_uc003yto.2_Silent_p.C114C NM_144649 NP_653250 Q6P5X7 TMM71_HUMAN transmembrane protein 71 isoform 1 114 integral to membrane ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) AAAAGGAATGGCAGATTCTCT 0.383000 CYP11B1 1584 broad.mit.edu 37 8 143957257 143957257 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr8:143957257G>A uc003yxi.2 - 6 999 c.992C>T c.(991-993)GCT>GTT p.A331V CYP11B1_uc010mex.2_Missense_Mutation_p.A7V|CYP11B1_uc003yxh.2_Missense_Mutation_p.A47V|CYP11B1_uc003yxj.2_Missense_Mutation_p.A331V|CYP11B1_uc010mey.2_Missense_Mutation_p.A402V NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 331 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) GGGGTTCCGAGCCAGCTCAAA 0.647000 Familial_Hyperaldosteronism_type_I SMC5 23137 broad.mit.edu 37 9 72874089 72874089 + Missense_Mutation SNP G G A TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr9:72874089G>A uc004ahr.2 + 1 212 c.95G>A c.(94-96)AGG>AAG p.R32K uc004ahq.1_5'Flank NM_015110 NP_055925 Q8IY18 SMC5_HUMAN SMC5 protein 32 DNA recombination|DNA repair chromosome|nucleus ATP binding ovary(2)|central_nervous_system(1) 3 CCGAGCAAGAGGAAGAATTCG 0.607000 KCNT1 57582 broad.mit.edu 37 9 138671263 138671263 + Missense_Mutation SNP A A G TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr9:138671263A>G uc011mdq.1 + 24 2862 c.2788A>G c.(2788-2790)ATG>GTG p.M930V KCNT1_uc011mdr.1_Missense_Mutation_p.M757V|KCNT1_uc010nbf.2_Missense_Mutation_p.M885V|KCNT1_uc004cgo.1_Missense_Mutation_p.M679V NM_020822 NP_065873 Q5JUK3 KCNT1_HUMAN potassium channel, subfamily T, member 1 930 membrane binding|calcium-activated potassium channel activity large_intestine(2)|ovary(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) CATGCGCTTCATGCAGTTCCG 0.627000 USP51 158880 broad.mit.edu 37 X 55513295 55513295 + Nonsense_Mutation SNP A A T TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chrX:55513295A>T uc004dun.1 - 2 2157 c.2078T>A c.(2077-2079)TTA>TAA p.L693* USP51_uc011moo.1_Nonsense_Mutation_p.L397* NM_201286 NP_958443 Q70EK9 UBP51_HUMAN ubiquitin specific protease 51 693 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 ACTGTAGAGTAAGTCCTCAAT 0.428000 ATP1B1 481 broad.mit.edu 37 1 169096459 169096462 + Splice_Site DEL TAGA TAGA - TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr1:169096458_169096461TTAGA>T uc001gfr.1 + 4 504 c.383_splice c.e4-1 p.D128_splice NM_001677 NP_001668 P05026 AT1B1_HUMAN Homo sapiens ATPase, Na+/K+ transporting, beta 1 polypeptide (ATP1B1), mRNA. 128 ATP biosynthetic process|blood coagulation|leukocyte migration sodium:potassium-exchanging ATPase complex protein binding|sodium:potassium-exchanging ATPase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 14 all_hematologic(923;0.208) GTTTTTATTTTTAGATGTGCCCAG 0.402 SUV420H1 51111 broad.mit.edu 37 11 67926536 67926536 + Frame_Shift_Del DEL G G - TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr11:67926536delG uc001onm.1 - 11 1533 c.1277delC c.(1276-1278)TCAfs p.S426fs SUV420H1_uc009yse.1_Frame_Shift_Del_p.S12fs|SUV420H1_uc001onn.1_Frame_Shift_Del_p.S254fs|SUV420H1_uc009ysf.2_Frame_Shift_Del_p.S186fs NM_017635 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 isoform 426 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(2)|kidney(1) 3 TAGCTTAGATGAGGTAGAGTT 0.368 CCDC18 343099 broad.mit.edu 37 1 93705415 93705416 + Frame_Shift_Ins INS - - G TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr1:93705414_93705415A>AG uc021opx.1 + 20 3103_3104 c.2942_2943A>AG c.(2941-2943)gaafs p.E981fs CCDC18_uc009wdl.1_Frame_Shift_Ins_p.E616fs NM_206886 NP_996769 Q5T9S5 CCD18_HUMAN Homo sapiens coiled-coil domain containing 18 (CCDC18), mRNA. 980 breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) TCATTAGAGGAAAAATACACTA 0.307 ATP1B1 481 broad.mit.edu 37 1 169096459 169096462 + Splice_Site DEL TAGA TAGA - TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr1:169096458_169096461TTAGA>T uc001gfr.1 + 4 504 c.383_splice c.e4-1 p.D128_splice NM_001677 NP_001668 P05026 AT1B1_HUMAN Homo sapiens ATPase, Na+/K+ transporting, beta 1 polypeptide (ATP1B1), mRNA. 128 ATP biosynthetic process|blood coagulation|leukocyte migration sodium:potassium-exchanging ATPase complex protein binding|sodium:potassium-exchanging ATPase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 14 all_hematologic(923;0.208) GTTTTTATTTTTAGATGTGCCCAG 0.402 ZNF394 84124 broad.mit.edu 37 7 99091995 99091996 + Frame_Shift_Del DEL AG AG - TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr7:99091994_99091995TAG>T uc003uqs.3 - 2 1004_1005 c.843_844CTA>A c.(841-846)tctaaafs p.S281fs ZNF394_uc003uqt.3_Frame_Shift_Del_p.S74fs NM_032164 NP_115540 Q53GI3 ZN394_HUMAN Homo sapiens zinc finger protein 394 (ZNF394), mRNA. 281 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1) 16 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) TCATTATTTTTAGAGTCTTCCC 0.465 PYGL 5836 broad.mit.edu 37 14 51375622 51375622 + Frame_Shift_Del DEL A A - TCGA-HF-7133-01A-11D-2053-08 TCGA-HF-7133-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 45f0380c-c656-45a9-9acf-0d747215a5ab 3f90f656-74aa-499c-b018-76cdb94030d0 g.chr14:51375621_51375621CA>C uc001wyu.3 - 17 2357 c.2230_2230TG>G c.(2230-2232)gatfs p.D744fs PYGL_uc010tqq.2_Frame_Shift_Del_p.D710fs NM_002863 NP_002854 P06737 PYGL_HUMAN Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA. 744 glucose homeostasis|glucose metabolic process|glycogen catabolic process cytosol|soluble fraction AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3) 25 all_epithelial(31;0.00825)|Breast(41;0.148) Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140) TCAATTTGATCAATGACCAGC 0.433