Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut PGD 5226 broad.mit.edu 37 1 10477152 10477152 + Nonsense_Mutation SNP C C G TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr1:10477152C>G uc001arc.2 + 9 1043 c.953C>G c.(952-954)TCA>TGA p.S318* PGD_uc001ard.2_Nonsense_Mutation_p.S238*|PGD_uc010oak.1_Nonsense_Mutation_p.S296*|PGD_uc010oal.1_Nonsense_Mutation_p.S305* NM_002631 NP_002622 P52209 6PGD_HUMAN phosphogluconate dehydrogenase 318 pentose-phosphate shunt, oxidative branch cytosol NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding ovary(1) 1 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487) GATAAGAAATCATTCCTGGAG 0.517 NA 12 57 0 0 0 0 GJA9 81025 broad.mit.edu 37 1 39340697 39340697 + Missense_Mutation SNP A A C TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr1:39340697A>C uc001cct.1 - 2 1355 c.1074T>G c.(1072-1074)TTT>TTG p.F358L RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank NM_030772 NP_110399 P57773 CXA9_HUMAN gap junction protein, alpha 9, 59kDa 358 Cytoplasmic (Potential). cell communication connexon complex|integral to membrane 0 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) GTTCTTTTCCAAATATTTTAT 0.343 NA 8 40 0 0 0 0 PABPC4 8761 broad.mit.edu 37 1 40034595 40034595 + Missense_Mutation SNP T T C TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr1:40034595T>C uc010oiv.1 - 6 1653 c.755A>G c.(754-756)AAT>AGT p.N252S PABPC4_uc001cdl.2_Missense_Mutation_p.N252S|PABPC4_uc001cdm.2_Missense_Mutation_p.N252S|SNORA55_uc001cdo.1_5'Flank NM_003819 NP_003810 Q13310 PABP4_HUMAN poly A binding protein, cytoplasmic 4 isoform 2 252 RRM 3. blood coagulation|RNA catabolic process|RNA processing|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding 0 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TTCTTTTCCATTCATCTCTTC 0.368 NA 19 85 0 0 0 0 EPHX4 253152 broad.mit.edu 37 1 92495738 92495738 + Silent SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr1:92495738C>T uc001don.2 + 1 206 c.102C>T c.(100-102)ATC>ATT p.I34I NM_173567 NP_775838 Q8IUS5 EPHX4_HUMAN abhydrolase domain containing 7 34 Helical; Signal-anchor for type II membrane protein; (Potential). integral to membrane hydrolase activity central_nervous_system(1) 1 GCGCCTCCATCCACCTGCTCA 0.697 NA 4 4 0 0 0 0 NBPF10 100132406 broad.mit.edu 37 1 145368604 145368604 + Missense_Mutation SNP T T G TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr1:145368604T>G uc001end.3 + 86 10842 c.10807T>G c.(10807-10809)TAC>GAC p.Y3603D NBPF9_uc010oye.1_Missense_Mutation_p.Y887D|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Missense_Mutation_p.Y456D|NBPF10_uc010oyk.1_Missense_Mutation_p.Y244D|NBPF10_uc010oyl.1_Missense_Mutation_p.Y244D NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 3528 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CTTCGCCCTTTACGTGGACAA 0.443 NA 5 261 0 0 0 0 MRPL9 65005 broad.mit.edu 37 1 151735515 151735515 + Silent SNP C C T rs148707904 TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr1:151735515C>T uc001eyv.2 - 2 346 c.261G>A c.(259-261)AAG>AAA p.K87K MRPL9_uc009wmz.2_RNA|MRPL9_uc010pdk.1_Silent_p.K87K|MRPL9_uc009wna.1_Silent_p.K87K NM_031420 NP_113608 Q9BYD2 RM09_HUMAN mitochondrial ribosomal protein L9 precursor 87 translation mitochondrial ribosome structural constituent of ribosome ovary(1) 1 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TGGGCCGATGCTTCGTGTCCT 0.647 NA 40 57 0 0 0 0 IGSF8 93185 broad.mit.edu 37 1 160061631 160061631 + Missense_Mutation SNP C C A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr1:160061631C>A uc001fva.2 - 6 1869 c.1824G>T c.(1822-1824)AAG>AAT p.K608N IGSF8_uc001fuz.2_Missense_Mutation_p.K608N|IGSF8_uc009wtf.2_Missense_Mutation_p.K608N NM_052868 NP_443100 Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 608 Cytoplasmic (Potential). cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding 0 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TTCGAAGCCTCTTCATGAAGC 0.557 NA 3 56 0.00909568 0.00945098 1 0 ZNF670 93474 broad.mit.edu 37 1 247201259 247201259 + Missense_Mutation SNP C C G TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr1:247201259C>G uc001icd.1 - 4 833 c.662G>C c.(661-663)GGA>GCA p.G221A ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron NM_033213 NP_149990 Q9BS34 ZN670_HUMAN zinc finger protein 670 221 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00427) GGGTTTCTCTCCAGTATGAGT 0.358 NA 7 20 0 0 0 0 DLG5 9231 broad.mit.edu 37 10 79555860 79555860 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr10:79555860C>T uc001jzk.2 - 29 5465 c.5395G>A c.(5395-5397)GAT>AAT p.D1799N DLG5_uc001jzi.2_Missense_Mutation_p.D554N|DLG5_uc001jzj.2_Missense_Mutation_p.D1214N|DLG5_uc009xru.1_RNA NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN discs large homolog 5 1799 Guanylate kinase-like. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity ovary(5)|breast(3) 8 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) GTGGTCACATCGAAATGGCCG 0.517 NA 19 52 0 0 0 0 MYOF 26509 broad.mit.edu 37 10 95191243 95191243 + Missense_Mutation SNP C C A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr10:95191243C>A uc001kin.2 - 4 390 c.267G>T c.(265-267)AAG>AAT p.K89N MYOF_uc001kio.2_Missense_Mutation_p.K89N|MYOF_uc001kip.3_Missense_Mutation_p.K89N|MYOF_uc009xuf.2_Missense_Mutation_p.K71N NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN myoferlin isoform a 89 Cytoplasmic (Potential). blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding ovary(3)|breast(1) 4 CAGTCAGGTCCTTCAGGGCTA 0.498 NA 11 27 0.000673444 0.000710858 1 0 MUC2 4583 broad.mit.edu 37 11 1098725 1098725 + Silent SNP G G C TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr11:1098725G>C uc001lsx.1 + 40 14208 c.14181G>C c.(14179-14181)TCG>TCC p.S4727S NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 4727 inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) TGCCGGGCTCGAGCCTGGAGT 0.647 NA 2 5 0 0 0 0 ZNF195 7748 broad.mit.edu 37 11 3380843 3380843 + Silent SNP G G T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr11:3380843G>T uc001lxt.2 - 6 1573 c.1395C>A c.(1393-1395)CCC>CCA p.P465P uc001lxr.2_5'Flank|ZNF195_uc001lxv.2_Silent_p.P442P|ZNF195_uc001lxs.2_Silent_p.P393P|ZNF195_uc010qxr.1_Silent_p.P446P|ZNF195_uc009ydz.2_Silent_p.P420P|ZNF195_uc001lxu.2_Silent_p.P397P NM_001130520 NP_001123992 O14628 ZN195_HUMAN zinc finger protein 195 isoform 1 465 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) CACATTGGTAGGGTTTCTCTC 0.443 NA 17 55 7.08e-05 7.71e-05 1 0 TMEM179B 374395 broad.mit.edu 37 11 62556844 62556844 + Missense_Mutation SNP G G A rs146539259 TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr11:62556844G>A uc001nvd.3 + 3 395 c.365G>A c.(364-366)CGA>CAA p.R122Q NM_199337 NP_955369 Q7Z7N9 T179B_HUMAN transmembrane protein 179B 122 integral to membrane 0 TGTATCCTTCGATTTGGCACC 0.537 NA 5 29 0 0 0 0 LTBP3 4054 broad.mit.edu 37 11 65315474 65315474 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr11:65315474C>T uc001oej.2 - 12 2032 c.1763G>A c.(1762-1764)GGA>GAA p.G588E LTBP3_uc001oeg.2_5'Flank|LTBP3_uc001oeh.2_Missense_Mutation_p.G18E|LTBP3_uc010roi.1_Missense_Mutation_p.G471E|LTBP3_uc001oei.2_Missense_Mutation_p.G588E|LTBP3_uc010roj.1_Missense_Mutation_p.G289E|LTBP3_uc010rok.1_Missense_Mutation_p.G499E NM_001130144 NP_001123616 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding 588 Cys-rich.|EGF-like 3. extracellular region calcium ion binding|growth factor binding central_nervous_system(2)|lung(1) 3 CACGCACTCTCCGTGGCCACA 0.657 NA 13 49 0 0 0 0 GDPD4 220032 broad.mit.edu 37 11 76969569 76969569 + Silent SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr11:76969569G>A uc001oyf.2 - 10 977 c.726C>T c.(724-726)TTC>TTT p.F242F NM_182833 NP_878253 Q6W3E5 GDPD4_HUMAN glycerophosphodiester phosphodiesterase domain 242 GDPD.|Extracellular (Potential). glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding skin(1) 1 CATGCATGAGGAAAGGCACAT 0.478 NA 30 109 0 0 0 0 DLG2 1740 broad.mit.edu 37 11 83770508 83770508 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr11:83770508G>A uc001paj.2 - 6 757 c.454C>T c.(454-456)CGG>TGG p.R152W DLG2_uc001pai.2_Missense_Mutation_p.R101W|DLG2_uc010rsy.1_Missense_Mutation_p.R119W|DLG2_uc010rsz.1_Missense_Mutation_p.R152W|DLG2_uc010rta.1_Missense_Mutation_p.R152W|DLG2_uc001pak.2_Missense_Mutation_p.R257W|DLG2_uc010rtb.1_Missense_Mutation_p.R119W|DLG2_uc001pal.1_Missense_Mutation_p.R152W|DLG2_uc001pam.1_Missense_Mutation_p.R191W NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 152 PDZ 1. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TCATTCACCCGCAAGATACAA 0.443 NA 3 22 0 0 0 0 EXPH5 23086 broad.mit.edu 37 11 108385200 108385200 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr11:108385200G>A uc001pkk.2 - 6 1145 c.1034C>T c.(1033-1035)CCA>CTA p.P345L EXPH5_uc010rvy.1_Missense_Mutation_p.P157L|EXPH5_uc010rvz.1_Missense_Mutation_p.P189L|EXPH5_uc010rwa.1_Missense_Mutation_p.P269L NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 345 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) AGTTGTGGCTGGAAAATGTAA 0.468 NA 4 85 0 0 0 0 DSCAML1 57453 broad.mit.edu 37 11 117335712 117335712 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr11:117335712G>A uc001prh.1 - 17 3393 c.3391C>T c.(3391-3393)CGG>TGG p.R1131W NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1071 Extracellular (Potential).|Fibronectin type-III 2. 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) GTGCCAGCCCGATTGAAGGCT 0.617 NA 18 62 0 0 0 0 ABCG4 64137 broad.mit.edu 37 11 119029006 119029006 + Silent SNP C C G TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr11:119029006C>G uc001pvs.2 + 10 1467 c.1131C>G c.(1129-1131)CTC>CTG p.L377L ABCG4_uc009zar.2_Silent_p.L377L NM_022169 NP_071452 Q9H172 ABCG4_HUMAN ATP-binding cassette, subfamily G, member 4 377 Cytoplasmic (Potential). cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity ovary(2) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) TCTGCATCCTCTTCAAGAGGA 0.572 NA 42 315 0 0 0 0 BSX 390259 broad.mit.edu 37 11 122850040 122850040 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr11:122850040C>T uc010rzs.1 - 2 388 c.388G>A c.(388-390)GAG>AAG p.E130K NM_001098169 NP_001091639 Q3C1V8 BSH_HUMAN brain specific homeobox 130 Homeobox. 0 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361) CGCTGGATCTCGAACCTCTTC 0.682 NA 10 98 0 0 0 0 FAM118B 79607 broad.mit.edu 37 11 126126666 126126666 + Missense_Mutation SNP A A G TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr11:126126666A>G uc001qdf.2 + 7 1084 c.901A>G c.(901-903)ATC>GTC p.I301V FAM118B_uc009zca.2_Missense_Mutation_p.I305V|FAM118B_uc001qdg.2_Missense_Mutation_p.I301V NM_024556 NP_078832 Q9BPY3 F118B_HUMAN hypothetical protein LOC79607 301 0 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784) GATTAAAGTCATCTCCTATGG 0.433 NA 53 168 0 0 0 0 WNK1 65125 broad.mit.edu 37 12 970337 970337 + Silent SNP A A G TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr12:970337A>G uc001qio.3 + 7 2286 c.1779A>G c.(1777-1779)GTA>GTG p.V593V WNK1_uc001qip.3_Silent_p.V593V|WNK1_uc001qir.3_Silent_p.V40V NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 593 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) AACAGCAGGTAGAACAATCCA 0.473 NA 25 85 0 0 0 0 PAN2 9924 broad.mit.edu 37 12 56718209 56718209 + Silent SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr12:56718209G>A uc001skx.2 - 12 2170 c.1797C>T c.(1795-1797)GAC>GAT p.D599D PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Silent_p.D599D|PAN2_uc001sky.2_Silent_p.D599D NM_001127460 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 polyA specific ribonuclease subunit homolog 599 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity ovary(2)|skin(2)|large_intestine(1)|breast(1) 6 CCTCATCTGAGTCAGCCAGGA 0.498 NA 5 51 0 0 0 0 TMTC2 160335 broad.mit.edu 37 12 83359465 83359465 + Missense_Mutation SNP C C G TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr12:83359465C>G uc001szt.2 + 6 2243 c.1811C>G c.(1810-1812)TCT>TGT p.S604C TMTC2_uc001szr.1_Missense_Mutation_p.S604C|TMTC2_uc001szs.1_Missense_Mutation_p.S604C|TMTC2_uc010suk.1_Missense_Mutation_p.S359C NM_152588 NP_689801 Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat 604 endoplasmic reticulum|integral to membrane binding ovary(2) 2 CACAAGAGCTCTGTTACCAGT 0.488 NA 4 71 0 0 0 0 WSCD2 9671 broad.mit.edu 37 12 108634156 108634156 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr12:108634156C>T uc001tms.2 + 8 1924 c.1180C>T c.(1180-1182)CGG>TGG p.R394W WSCD2_uc001tmt.2_Missense_Mutation_p.R394W|WSCD2_uc001tmu.2_Missense_Mutation_p.R142W NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN WSC domain containing 2 394 integral to membrane ovary(1)|large_intestine(1)|breast(1) 3 GCGCAGCGGACGGACCATCTG 0.617 NA 12 147 0 0 0 0 UBE3B 89910 broad.mit.edu 37 12 109972413 109972414 + Missense_Mutation DNP GG GG TT TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr12:109972413_109972414GG>TT uc001top.2 + 28 3636_3637 c.3033_3034GG>TT c.(3031-3036)CTGGGC>CTTTGC p.G1012C UBE3B_uc001toq.2_Missense_Mutation_p.G1012C|UBE3B_uc001tos.2_Missense_Mutation_p.G439C|UBE3B_uc001tot.2_Missense_Mutation_p.G130C|UBE3B_uc010sxp.1_3'UTR NM_130466 NP_569733 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 1012 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity ovary(2)|lung(2) 4 GGGACACTCTGGGCAGCGTCCT 0.649 NA 12 41 0 0 0 0 POLE 5426 broad.mit.edu 37 12 133202825 133202825 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr12:133202825C>T uc001uks.1 - 46 6453 c.6409G>A c.(6409-6411)GAG>AAG p.E2137K POLE_uc001ukq.1_Missense_Mutation_p.E347K|POLE_uc001ukr.1_Missense_Mutation_p.E941K|POLE_uc010tbq.1_RNA NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 2137 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) TCGGAGAACTCGCCGACATCC 0.602 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 4 25 0 0 0 0 SACS 26278 broad.mit.edu 37 13 23906534 23906534 + Silent SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr13:23906534C>T uc001uon.2 - 10 12070 c.11481G>A c.(11479-11481)AAG>AAA p.K3827K SACS_uc001uoo.2_Silent_p.K3680K|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 3827 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) CTAAAGGTAGCTTGTACAAAT 0.358 NA 14 54 0 0 0 0 STARD13 90627 broad.mit.edu 37 13 33703846 33703846 + Missense_Mutation SNP A A T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr13:33703846A>T uc001uuw.2 - 5 1094 c.968T>A c.(967-969)CTC>CAC p.L323H STARD13_uc001uuu.2_Missense_Mutation_p.L315H|STARD13_uc001uuv.2_Missense_Mutation_p.L205H|STARD13_uc001uux.2_Missense_Mutation_p.L288H|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Missense_Mutation_p.L308H NM_178006 NP_821074 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain 323 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding ovary(2)|pancreas(1)|skin(1) 4 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) AGAGCATGGGAGCCCTTTTCT 0.597 NA 4 42 0 0 0 0 GPC5 2262 broad.mit.edu 37 13 92345977 92345977 + Missense_Mutation SNP C C A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr13:92345977C>A uc010tif.1 + 3 1228 c.862C>A c.(862-864)CTT>ATT p.L288I NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 288 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) CATGGCGGAGCTTAATCCACA 0.532 NA 7 61 0.00307968 0.00323792 1 0 LRFN5 145581 broad.mit.edu 37 14 42356945 42356945 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr14:42356945C>T uc001wvm.2 + 3 2315 c.1117C>T c.(1117-1119)CAT>TAT p.H373Y LRFN5_uc010ana.2_Missense_Mutation_p.H373Y NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 373 Extracellular (Potential).|Ig-like. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) AGTGGATCTTCATATAATTAA 0.403 NA HNSCC(30;0.082) 11 54 0 0 0 0 NRXN3 9369 broad.mit.edu 37 14 79933658 79933658 + Silent SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr14:79933658C>T uc001xun.2 + 13 2729 c.2238C>T c.(2236-2238)GCC>GCT p.A746A NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Silent_p.A114A|NRXN3_uc010asw.2_Silent_p.A114A|NRXN3_uc001xur.3_Silent_p.A114A NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 1119 Extracellular (Potential).|Laminin G-like 6. axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) ACCGCCTTGCCGTGGGCTTCA 0.577 NA 15 50 0 0 0 0 RASGRP1 10125 broad.mit.edu 37 15 38805096 38805096 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr15:38805096C>T uc001zke.3 - 7 915 c.737G>A c.(736-738)CGA>CAA p.R246Q RASGRP1_uc010bbe.2_RNA|RASGRP1_uc010bbf.2_Missense_Mutation_p.R108Q|RASGRP1_uc010bbg.2_Missense_Mutation_p.R108Q|RASGRP1_uc001zkd.3_Missense_Mutation_p.R246Q NM_005739 NP_005730 O95267 GRP1_HUMAN RAS guanyl releasing protein 1 isoform a 246 Ras-GEF. cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding large_intestine(1)|ovary(1) 2 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) AGCAATAGATCGCTCCATGGT 0.468 NA 3 18 0 0 0 0 TGM5 9333 broad.mit.edu 37 15 43552685 43552685 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr15:43552685G>A uc001zrd.1 - 2 111 c.103C>T c.(103-105)CGG>TGG p.R35W TGM5_uc001zre.1_Missense_Mutation_p.R35W NM_201631 NP_963925 O43548 TGM5_HUMAN transglutaminase 5 isoform 1 35 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1) 1 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) GCCTGGCCCCGGCGAACAAGC 0.572 NA 18 134 0 0 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58256141 58256141 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr15:58256141C>T uc002aex.2 - 9 1086 c.1028G>A c.(1027-1029)CGG>CAG p.R343Q ALDH1A2_uc002aey.2_Missense_Mutation_p.R305Q|ALDH1A2_uc010ugv.1_Missense_Mutation_p.R322Q|ALDH1A2_uc010ugw.1_Missense_Mutation_p.R314Q|ALDH1A2_uc002aew.2_Missense_Mutation_p.R247Q NM_003888 NP_003879 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1A2 isoform 1 343 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) CCTCTTGGCCCGCTCCACGCT 0.527 NA 9 56 0 0 0 0 KIAA1024 23251 broad.mit.edu 37 15 79755583 79755583 + Missense_Mutation SNP C C T rs61746211 byFrequency TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr15:79755583C>T uc002bew.1 + 3 2548 c.2473C>T c.(2473-2475)CGG>TGG p.R825W KIAA1024_uc010unk.1_Missense_Mutation_p.R825W NM_015206 NP_056021 Q9UPX6 K1024_HUMAN hypothetical protein LOC23251 825 integral to membrane pancreas(2)|ovary(1)|central_nervous_system(1) 4 CGAGGTGAAGCGGGGCCAACC 0.617 NA 7 63 0 0 0 0 ARNT2 9915 broad.mit.edu 37 15 80845025 80845025 + Silent SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr15:80845025G>A uc002bfr.2 + 10 1165 c.999G>A c.(997-999)GTG>GTA p.V333V ARNT2_uc010unm.1_Silent_p.V322V|ARNT2_uc002bfs.2_Silent_p.V322V NM_014862 NP_055677 Q9HBZ2 ARNT2_HUMAN aryl hydrocarbon receptor nuclear translocator 333 PAS 2. central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(3)|ovary(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.134) GGATGTCGGTGCCCACAGAGT 0.498 NA 9 85 0 0 0 0 KIAA1199 57214 broad.mit.edu 37 15 81181835 81181835 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr15:81181835G>A uc002bfw.1 + 9 1248 c.988G>A c.(988-990)GAT>AAT p.D330N KIAA1199_uc010unn.1_Missense_Mutation_p.D330N NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN KIAA1199 precursor 330 upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 GGAGTGGTTCGATCATGATAA 0.473 NA 5 57 0 0 0 0 NUP93 9688 broad.mit.edu 37 16 56875619 56875619 + Silent SNP C C A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr16:56875619C>A uc002eka.2 + 21 2344 c.2223C>A c.(2221-2223)ATC>ATA p.I741I NUP93_uc002ekb.2_Silent_p.I618I|NUP93_uc010vhi.1_Silent_p.I618I NM_014669 NP_055484 Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 741 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 CTATGTAGATCAGGCACAACC 0.522 NA 16 113 4.15e-12 4.66e-12 1 0 DOK4 55715 broad.mit.edu 37 16 57509069 57509069 + Missense_Mutation SNP C C T rs111834942 byFrequency TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr16:57509069C>T uc010cdb.2 - 4 650 c.352G>A c.(352-354)GAC>AAC p.D118N DOK4_uc002elu.1_Missense_Mutation_p.D118N|DOK4_uc002elv.3_Missense_Mutation_p.D118N NM_018110 NP_060580 Q8TEW6 DOK4_HUMAN docking protein 4 118 insulin receptor binding skin(1) 1 AGACTGATGTCGTTGAGGCGG 0.552 NA 21 90 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A rs121912651 TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr17:7577539G>A uc002gim.2 - 7 936 c.742C>T c.(742-744)CGG>TGG p.R248W TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.2_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248Q(516)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ATGGGCCTCCGGTTCATGCCG 0.577 R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO680N_OESOPHAGUS)|R248W(SW837_LARGE_INTESTINE)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(RD_SOFT_TISSUE)|R248W(VCAP_PROSTATE)|R248W(JIMT1_BREAST)|R248W(GCT_SOFT_TISSUE)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(786O_KIDNEY)|R248W(COLO320_LARGE_INTESTINE)|R248W(LXF289_LUNG)|R248W(LUDLU1_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(HCC2157_BREAST) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 9 30 0 0 0 0 ZNF18 7566 broad.mit.edu 37 17 11895781 11895781 + Missense_Mutation SNP G G T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr17:11895781G>T uc002gng.1 - 4 971 c.366C>A c.(364-366)GAC>GAA p.D122E ZNF18_uc002gnh.1_Missense_Mutation_p.D122E|ZNF18_uc002gni.1_Missense_Mutation_p.D122E NM_144680 NP_653281 P17022 ZNF18_HUMAN zinc finger protein 18 122 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1) 1 Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233) GTCTCTGGGGGTCCCCCTTCA 0.517 NA 8 57 5.18e-06 5.72e-06 1 0 CCDC144NL 339184 broad.mit.edu 37 17 20799105 20799105 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr17:20799105G>A uc002gyf.2 - 1 349 c.229C>T c.(229-231)CGC>TGC p.R77C uc002gyg.1_Intron|uc002gyh.1_Intron NM_001004306 NP_001004306 Q6NUI1 C144L_HUMAN coiled-coil domain containing 144 family, 77 0 TCTTCCAGGCGGACATCGTGC 0.642 NA 15 69 0 0 0 0 KCNJ12 3768 broad.mit.edu 37 17 21319815 21319815 + Silent SNP C C T rs144041366 TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr17:21319815C>T uc002gyv.1 + 3 1866 c.1161C>T c.(1159-1161)GAC>GAT p.D387D NM_021012 NP_066292 Q14500 IRK12_HUMAN potassium inwardly-rectifying channel, subfamily 387 Cytoplasmic (By similarity). blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission integral to membrane inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(3)|skin(1) 4 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204) TGAGCCGTGACGAGGAGGATG 0.662 NA Prostate(3;0.18) 4 58 0 0 0 0 HNF1B 6928 broad.mit.edu 37 17 36091644 36091644 + Silent SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr17:36091644C>T uc002hok.3 - 4 1208 c.987G>A c.(985-987)CTG>CTA p.L329L HNF1B_uc010wdi.1_Silent_p.L303L|HNF1B_uc010cve.1_Silent_p.L137L NM_000458 NP_000449 P35680 HNF1B_HUMAN hepatocyte nuclear factor 1-beta isoform 1 329 endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3) 3 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) CGTGGGAGAGCAGAGGGTTCA 0.587 NA Hereditary_Prostate_Cancer 5 25 0 0 0 0 SLC38A10 124565 broad.mit.edu 37 17 79226463 79226463 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr17:79226463C>T uc002jzz.1 - 13 1852 c.1477G>A c.(1477-1479)GAG>AAG p.E493K SLC38A10_uc002jzy.1_Missense_Mutation_p.E411K|SLC38A10_uc002kab.2_Missense_Mutation_p.E493K NM_001037984 NP_001033073 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 isoform a 493 amino acid transport|sodium ion transport integral to membrane pancreas(1)|skin(1) 2 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CGGTGGGCCTCGCCCACAGGC 0.607 NA 15 41 0 0 0 0 PDE4A 5141 broad.mit.edu 37 19 10571734 10571734 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr19:10571734G>A uc002moj.2 + 11 1528 c.1420G>A c.(1420-1422)GAT>AAT p.D474N PDE4A_uc002mok.2_Missense_Mutation_p.D448N|PDE4A_uc002mol.2_Missense_Mutation_p.D413N|PDE4A_uc002mom.2_Missense_Mutation_p.D235N|PDE4A_uc002mon.2_5'UTR|PDE4A_uc002moo.2_Missense_Mutation_p.D140N NM_001111307 NP_001104777 P27815 PDE4A_HUMAN phosphodiesterase 4A isoform 1 474 Catalytic. Divalent metal cation 2.|cAMP (By similarity).|Divalent metal cation 1. signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) TGCCATCCACGATGTGGATCA 0.577 NA 6 20 0 0 0 0 ZNF99 7652 broad.mit.edu 37 19 22939423 22939423 + Nonsense_Mutation SNP G G T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr19:22939423G>T uc010xrh.1 - 7 2748 c.2748C>A c.(2746-2748)TAC>TAA p.Y916* NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CTTCACATTTGTACGGTTTCT 0.378 NA 6 26 8.13e-05 8.79e-05 1 0 EXOC3L2 90332 broad.mit.edu 37 19 45719439 45719439 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr19:45719439G>A uc002pay.1 - 9 874 c.833C>T c.(832-834)TCG>TTG p.S278L NM_138568 NP_612635 Q2M3D2 EX3L2_HUMAN exocyst complex component 3-like 2 278 Potential. ovary(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00883) ATCCAGCCACGAGGCCTGGGA 0.617 NA 5 33 0 0 0 0 CA11 770 broad.mit.edu 37 19 49143424 49143424 + Silent SNP C C G TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr19:49143424C>G uc002pjz.1 - 4 961 c.399G>C c.(397-399)CTG>CTC p.L133L SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron|DBP_uc002pjx.3_5'Flank|DBP_uc002pjy.2_5'Flank|DBP_uc010elz.1_5'Flank NM_001217 NP_001208 O75493 CAH11_HUMAN carbonic anhydrase XI precursor 133 extracellular region 0 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016) ACAGCAGCCGCAGTTCACTGA 0.592 NA 20 53 0 0 0 0 ZNF649 65251 broad.mit.edu 37 19 52394690 52394690 + Silent SNP G G T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr19:52394690G>T uc002pxy.2 - 5 967 c.699C>A c.(697-699)CCC>CCA p.P233P ZNF577_uc010ydf.1_5'Flank NM_023074 NP_075562 Q9BS31 ZN649_HUMAN zinc finger protein 649 233 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) TACACCCGTGGGGTTTCTCTC 0.502 NA 13 61 0.000151284 0.000162922 1 0 ZNF665 79788 broad.mit.edu 37 19 53669070 53669070 + Nonsense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr19:53669070G>A uc010eqm.1 - 4 773 c.673C>T c.(673-675)CAG>TAG p.Q225* NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN zinc finger protein 665 160 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(134;0.0196) TGGATGACCTGATGGATTGTT 0.403 NA 7 69 0 0 0 0 ZIM2 23619 broad.mit.edu 37 19 57286846 57286846 + Missense_Mutation SNP A A C TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr19:57286846A>C uc002qnr.2 - 11 1176 c.794T>G c.(793-795)CTT>CGT p.L265R uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Missense_Mutation_p.L61R|ZIM2_uc010ygr.1_Missense_Mutation_p.L61R|ZIM2_uc002qnq.2_Missense_Mutation_p.L265R|ZIM2_uc010etp.2_Missense_Mutation_p.L265R|ZIM2_uc010ygs.1_Missense_Mutation_p.L265R NM_015363 NP_056178 Q9NZV7 ZIM2_HUMAN zinc finger, imprinted 2 265 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) AGGAGTCAAAAGTTTCTCTTG 0.443 NA 12 45 0 0 0 0 ZNF154 7710 broad.mit.edu 37 19 58213789 58213789 + Silent SNP G G C TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr19:58213789G>C uc010euf.2 - 3 768 c.528C>G c.(526-528)CTC>CTG p.L176L ZNF776_uc002qpx.2_Intron|ZNF154_uc002qpy.2_RNA NM_001085384 NP_001078853 Q13106 ZN154_HUMAN zinc finger protein 154 176 C2H2-type 3. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) AATGGTCATTGAGACTGTAGC 0.453 NA 19 111 0 0 0 0 ZSCAN22 342945 broad.mit.edu 37 19 58850557 58850557 + Missense_Mutation SNP G G C TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr19:58850557G>C uc002qsc.2 + 3 1488 c.1341G>C c.(1339-1341)CAG>CAC p.Q447H ZSCAN22_uc010yhz.1_3'UTR NM_181846 NP_862829 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 447 C2H2-type 7. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1) 1 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) CCTTTGCACAGAGCTCCTCCC 0.557 NA 7 58 0 0 0 0 BCL11A 53335 broad.mit.edu 37 2 60688817 60688817 + Silent SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr2:60688817G>A uc002sae.1 - 4 1458 c.1230C>T c.(1228-1230)TGC>TGT p.C410C BCL11A_uc002sab.2_Silent_p.C410C|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Silent_p.C79C|BCL11A_uc010ypj.1_Silent_p.C376C|BCL11A_uc002sad.1_Silent_p.C258C|BCL11A_uc002saf.1_Silent_p.C376C NM_022893 NP_075044 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A isoform 1 410 C2H2-type 3. negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|cytoplasm|nucleus|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding central_nervous_system(6)|breast(3)|ovary(2)|skin(2) 13 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) ACGCGTGGTCGCACAGGTTGC 0.597 NA T IGH@ B-CLL 18 84 0 0 0 0 DUSP11 8446 broad.mit.edu 37 2 73993700 73993700 + Silent SNP G G C TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr2:73993700G>C uc002sjp.2 - 8 822 c.780C>G c.(778-780)CCC>CCG p.P260P NM_003584 NP_003575 O75319 DUS11_HUMAN dual specificity phosphatase 11 213 RNA processing nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding skin(1) 1 CACTTGACCTGGGTACACTGG 0.373 NA 6 76 0 0 0 0 ZNF2 7549 broad.mit.edu 37 2 95846873 95846873 + Silent SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr2:95846873C>T uc002suf.2 + 5 762 c.300C>T c.(298-300)CAC>CAT p.H100H ZNF2_uc002sug.2_Silent_p.H58H|ZNF2_uc010yue.1_Silent_p.H62H|ZNF2_uc010fhs.2_Silent_p.H20H NM_021088 NP_066574 Q9BSG1 ZNF2_HUMAN zinc finger protein 2 isoform a 100 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(717;0.00768) READ - Rectum adenocarcinoma(193;0.0222) CTGAGATTCACGATGCTTCAG 0.423 NA 13 68 0 0 0 0 LONRF2 164832 broad.mit.edu 37 2 100919411 100919411 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr2:100919411C>T uc002tal.3 - 3 1533 c.893G>A c.(892-894)TGT>TAT p.C298Y LONRF2_uc010yvs.1_RNA NM_198461 NP_940863 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 298 TPR 5. proteolysis ATP-dependent peptidase activity|zinc ion binding large_intestine(1)|skin(1) 2 CACAGAGTTACATTCAGGATT 0.403 NA 26 65 0 0 0 0 DPP10 57628 broad.mit.edu 37 2 116485494 116485494 + Missense_Mutation SNP G G C TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr2:116485494G>C uc002tla.1 + 8 1136 c.679G>C c.(679-681)GCT>CCT p.A227P DPP10_uc002tlb.1_Missense_Mutation_p.A177P|DPP10_uc002tlc.1_Missense_Mutation_p.A223P|DPP10_uc002tle.2_Missense_Mutation_p.A231P|DPP10_uc002tlf.1_Missense_Mutation_p.A220P NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 227 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 TAATGGGATTGCTGACTGGTT 0.284 NA 4 36 0 0 0 0 NCL 4691 broad.mit.edu 37 2 232323778 232323778 + Missense_Mutation SNP T T C TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr2:232323778T>C uc002vru.2 - 7 1240 c.1099A>G c.(1099-1101)ACT>GCT p.T367A SNORD20_uc002vrw.1_5'Flank NM_005381 NP_005372 P19338 NUCL_HUMAN nucleolin 367 RRM 1. angiogenesis cell cortex|nucleolus|ribonucleoprotein complex nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding ovary(2)|pancreas(1) 3 Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18) TTCAAACCAGTGAGTTCCAAC 0.378 NA 29 46 0 0 0 0 LRRFIP1 9208 broad.mit.edu 37 2 238671551 238671551 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr2:238671551G>A uc002vxe.2 + 11 1487 c.1195G>A c.(1195-1197)GAC>AAC p.D399N LRRFIP1_uc002vxc.2_Intron|LRRFIP1_uc010znm.1_Intron|LRRFIP1_uc002vxd.2_Missense_Mutation_p.D375N|LRRFIP1_uc002vxf.2_Missense_Mutation_p.D343N NM_001137552 NP_001131024 Q32MZ4 LRRF1_HUMAN leucine rich repeat (in FLII) interacting 399 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|cytoskeleton|nucleus DNA binding|double-stranded RNA binding|protein binding breast(3) 3 Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228) TGCACCAGATGACAGGACCAG 0.493 NA 8 68 0 0 0 0 PAK7 57144 broad.mit.edu 37 20 9561425 9561425 + Silent SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr20:9561425G>A uc002wnl.2 - 5 902 c.357C>T c.(355-357)CAC>CAT p.H119H PAK7_uc002wnk.2_Silent_p.H119H|PAK7_uc002wnj.2_Silent_p.H119H|PAK7_uc010gby.1_Silent_p.H119H NM_020341 NP_065074 Q9P286 PAK7_HUMAN p21-activated kinase 7 119 Linker. ATP binding|protein binding|protein serine/threonine kinase activity lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1) 23 COAD - Colon adenocarcinoma(9;0.194) TTTCTTCCGCGTGGCCTGGAC 0.527 NA 19 141 0 0 0 0 MATN4 8785 broad.mit.edu 37 20 43932984 43932984 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr20:43932984G>A uc002xnn.2 - 3 714 c.527C>T c.(526-528)GCG>GTG p.A176V MATN4_uc002xno.2_Missense_Mutation_p.A176V|MATN4_uc002xnp.2_Missense_Mutation_p.A176V|MATN4_uc010zwr.1_Missense_Mutation_p.A124V|MATN4_uc002xnr.1_Missense_Mutation_p.A176V|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank NM_003833 NP_003824 O95460 MATN4_HUMAN matrilin 4 isoform 1 precursor 176 VWFA 1. extracellular region protein binding 0 Myeloproliferative disorder(115;0.0122) GCCCACGTCCGCGCGCTGCAC 0.692 NA 7 36 0 0 0 0 CTCFL 140690 broad.mit.edu 37 20 56087700 56087700 + Missense_Mutation SNP T T C TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr20:56087700T>C uc010gix.1 - 7 2101 c.1439A>G c.(1438-1440)CAT>CGT p.H480R CTCFL_uc010giw.1_Missense_Mutation_p.H480R|CTCFL_uc002xym.2_Missense_Mutation_p.H480R|CTCFL_uc010giz.1_Missense_Mutation_p.H68R|CTCFL_uc010giy.1_Missense_Mutation_p.H150R|CTCFL_uc010gja.1_Missense_Mutation_p.H430R|CTCFL_uc010gjb.1_Missense_Mutation_p.H480R|CTCFL_uc010gjc.1_Missense_Mutation_p.H480R|CTCFL_uc010gjd.1_Missense_Mutation_p.H480R|CTCFL_uc010gje.2_Missense_Mutation_p.H480R|CTCFL_uc010gjf.2_Missense_Mutation_p.H275R|CTCFL_uc010gjg.2_Missense_Mutation_p.H212R|CTCFL_uc010gjh.1_Intron|CTCFL_uc010gji.1_Missense_Mutation_p.H275R|CTCFL_uc010gjj.1_Missense_Mutation_p.H480R NM_080618 NP_542185 Q8NI51 CTCFL_HUMAN CCCTC-binding factor-like protein 480 C2H2-type 8. cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding ovary(2)|large_intestine(1)|skin(1) 4 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CTCATTCTTATGAGTTTTCTG 0.458 NA 10 64 0 0 0 0 ZNF831 128611 broad.mit.edu 37 20 57766526 57766526 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr20:57766526G>A uc002yan.2 + 1 452 c.452G>A c.(451-453)CGC>CAC p.R151H NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 151 C2H2-type 1. intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) CACTGTGGTCGCGACTGCCTG 0.662 NA 30 105 0 0 0 0 DOPEY2 9980 broad.mit.edu 37 21 37652617 37652617 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr21:37652617G>A uc002yvg.2 + 31 6083 c.6004G>A c.(6004-6006)GAG>AAG p.E2002K DOPEY2_uc011aeb.1_Missense_Mutation_p.E1951K NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 2002 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 TTTGACTCATGAGAAAACAAT 0.308 NA 9 30 0 0 0 0 CBS 875 broad.mit.edu 37 21 44474014 44474014 + Silent SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr21:44474014G>A uc002zcu.2 - 17 1877 c.1632C>T c.(1630-1632)GCC>GCT p.A544A CBS_uc002zcs.1_Silent_p.A439A|CBS_uc002zct.2_Silent_p.A544A|CBS_uc002zcw.3_Silent_p.A544A|CBS_uc002zcv.2_Silent_p.A544A NM_000071 NP_000062 P35520 CBS_HUMAN cystathionine-beta-synthase 544 cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process cytosol|nucleolus cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding 0 L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118) GCTCCTGGGCGGCCACGAAGT 0.647 NA 6 36 0 0 0 0 GNAZ 2781 broad.mit.edu 37 22 23465286 23465286 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr22:23465286G>A uc002zwu.1 + 3 1273 c.736G>A c.(736-738)GAG>AAG p.E246K RTDR1_uc002zwt.2_Intron NM_002073 NP_002064 P19086 GNAZ_HUMAN guanine nucleotide binding protein, alpha z 246 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity kidney(1)|skin(1) 2 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) TCGGATGGCAGAGAGCTTGCG 0.542 NA 12 41 0 0 0 0 ELFN2 114794 broad.mit.edu 37 22 37770765 37770765 + Silent SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr22:37770765G>A uc003asq.3 - 3 1596 c.810C>T c.(808-810)GAC>GAT p.D270D NM_052906 NP_443138 Q5R3F8 LRFN6_HUMAN leucine rich repeat containing 62 270 Extracellular (Potential). cell surface|integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Melanoma(58;0.0574) CCGAGTTCTCGTCTGGCTCCC 0.687 NA 9 40 0 0 0 0 POLDIP3 84271 broad.mit.edu 37 22 42999092 42999092 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr22:42999092G>A uc003bcu.2 - 2 233 c.134C>T c.(133-135)ACA>ATA p.T45I POLDIP3_uc011app.1_5'UTR|POLDIP3_uc003bcv.2_Missense_Mutation_p.T45I|POLDIP3_uc011apq.1_Missense_Mutation_p.T45I|POLDIP3_uc010gza.2_RNA|POLDIP3_uc011apr.1_RNA|POLDIP3_uc010gzb.1_Missense_Mutation_p.T45I NM_032311 NP_115687 Q9BY77 PDIP3_HUMAN DNA polymerase delta interacting protein 3 45 positive regulation of translation cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding 0 GGCTGTGCGTGTTGACTGGCT 0.527 NA 5 69 0 0 0 0 BRD1 23774 broad.mit.edu 37 22 50181097 50181097 + Missense_Mutation SNP C C T rs140147452 TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr22:50181097C>T uc003biv.2 - 7 2892 c.2405G>A c.(2404-2406)CGG>CAG p.R802Q BRD1_uc011arf.1_Missense_Mutation_p.R528Q|BRD1_uc011arg.1_Missense_Mutation_p.R851Q|BRD1_uc011arh.1_Missense_Mutation_p.R802Q|BRD1_uc003biu.3_Missense_Mutation_p.R933Q NM_014577 NP_055392 O95696 BRD1_HUMAN bromodomain containing protein 1 802 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) GCATGTGCTCCGCGACCTTTT 0.602 NA 9 39 0 0 0 0 TYMP 1890 broad.mit.edu 37 22 50967607 50967607 + Silent SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr22:50967607G>A uc003bmb.3 - 2 495 c.375C>T c.(373-375)GTC>GTT p.V125V TYMP_uc003bmc.3_Silent_p.V125V|TYMP_uc003bmd.3_Silent_p.V125V|TYMP_uc010hbd.2_Silent_p.V125V|TYMP_uc003bme.3_Silent_p.V125V|TYMP_uc003bmf.3_Silent_p.V125V|TYMP_uc011arz.1_Silent_p.V125V NM_001113756 NP_001107228 P19971 TYPH_HUMAN endothelial cell growth factor 1 125 angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process cytosol growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity ovary(1) 1 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675) GGACCAGGCTGACCTTGTCAC 0.637 NA 5 52 0 0 0 0 GRM7 2917 broad.mit.edu 37 3 6903381 6903381 + Silent SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr3:6903381C>T uc003bqm.2 + 1 580 c.306C>T c.(304-306)GGC>GGT p.G102G GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.G102G|GRM7_uc003bql.2_Silent_p.G102G NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 102 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) TGACGCTGGGCGCGCGGATCC 0.587 NA 4 15 0 0 0 0 EXOSC7 23016 broad.mit.edu 37 3 45052755 45052755 + Missense_Mutation SNP A A T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr3:45052755A>T uc003coi.2 + 8 829 c.800A>T c.(799-801)CAT>CTT p.H267L EXOSC7_uc003coh.1_Missense_Mutation_p.H202L|EXOSC7_uc010his.1_Missense_Mutation_p.H186L|EXOSC7_uc003coj.2_Missense_Mutation_p.H267L NM_015004 NP_055819 Q15024 EXOS7_HUMAN exosome component 7 267 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus 3'-5'-exoribonuclease activity|protein binding|RNA binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064) AAGGTACTGCATGCCTCCTTG 0.532 NA 3 11 0 0 0 0 LOC646498 646498 broad.mit.edu 37 3 49215451 49215451 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr3:49215451C>T uc011bcj.1 - 3 239 c.233G>A c.(232-234)CGG>CAG p.R78Q NM_001080528 NP_001073997 hypothetical LOC646498 0 BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.00221)|KIRC - Kidney renal clear cell carcinoma(197;0.00247) CAGGTCCTTCCGCCTTCCGAT 0.627 NA 5 25 0 0 0 0 SI 6476 broad.mit.edu 37 3 164767620 164767620 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr3:164767620C>T uc003fei.2 - 14 1618 c.1556G>A c.(1555-1557)GGA>GAA p.G519E NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 519 Lumenal.|Isomaltase. 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) TACATTACATCCTTTTGTTGA 0.284 NA HNSCC(35;0.089) 8 52 0 0 0 0 LRRC31 79782 broad.mit.edu 37 3 169557902 169557902 + Silent SNP C C G TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr3:169557902C>G uc003fgc.1 - 9 1604 c.1527G>C c.(1525-1527)GTG>GTC p.V509V LRRC31_uc010hwp.1_Silent_p.V453V NM_024727 NP_079003 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 509 ovary(2)|skin(1) 3 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) GAAGCTTGGTCACAGCATATA 0.413 NA 13 85 0 0 0 0 CLCN2 1181 broad.mit.edu 37 3 184074822 184074822 + Silent SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr3:184074822C>T uc003foi.2 - 10 1168 c.1044G>A c.(1042-1044)GTG>GTA p.V348V CLCN2_uc003foh.2_5'UTR|CLCN2_uc010hya.1_Silent_p.V348V|CLCN2_uc011brl.1_Silent_p.V348V|CLCN2_uc011brm.1_Silent_p.V304V|CLCN2_uc011brn.1_Silent_p.V348V NM_004366 NP_004357 P51788 CLCN2_HUMAN chloride channel 2 348 Helical; (By similarity). chloride channel complex voltage-gated chloride channel activity 0 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) GCTTCCGCATCACCTGGACAA 0.522 NA 7 27 0 0 0 0 MFI2 4241 broad.mit.edu 37 3 196735818 196735818 + Missense_Mutation SNP T T C TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr3:196735818T>C uc003fxk.3 - 12 1657 c.1544A>G c.(1543-1545)AAT>AGT p.N515S NM_005929 NP_005920 P08582 TRFM_HUMAN melanoma-associated antigen p97 isoform 1 515 Transferrin-like 2. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding 0 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) GCAGCTGGCATTGAAGAACTC 0.642 NA 48 75 0 0 0 0 ZBTB49 166793 broad.mit.edu 37 4 4301683 4301683 + Missense_Mutation SNP T T C TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr4:4301683T>C uc003ghu.2 + 2 186 c.11T>C c.(10-12)GTT>GCT p.V4A ZBTB49_uc003ghv.2_5'UTR|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_5'Flank NM_145291 NP_660334 Q6ZSB9 ZBT49_HUMAN zinc finger protein 509 4 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 ATGGACCCTGTTGCTACCCAC 0.463 NA 11 72 0 0 0 0 UGT2A3 79799 broad.mit.edu 37 4 69795796 69795796 + Missense_Mutation SNP G G T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr4:69795796G>T uc003hef.2 - 6 1350 c.1319C>A c.(1318-1320)GCT>GAT p.A440D UGT2A3_uc010ihp.1_RNA NM_024743 NP_079019 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, 440 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(1)|skin(1) 2 TAATCTCATAGCATTCTCTTT 0.383 NA 8 48 0.000157383 0.000168806 1 0 ANKRD56 345079 broad.mit.edu 37 4 77818042 77818042 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr4:77818042C>T uc003hki.2 - 1 961 c.961G>A c.(961-963)GAT>AAT p.D321N NM_001029870 NP_001025041 A6NEL2 ANR56_HUMAN ankyrin repeat domain 56 321 0 GGGCCCTGATCACGGGCCTCG 0.672 NA 6 19 0 0 0 0 GK2 2712 broad.mit.edu 37 4 80328687 80328687 + Missense_Mutation SNP A A G TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr4:80328687A>G uc003hlu.2 - 1 686 c.668T>C c.(667-669)TTT>TCT p.F223S NM_033214 NP_149991 Q14410 GLPK2_HUMAN glycerol kinase 2 223 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity ovary(2)|skin(2) 4 TGGAATTTCAAAAAAGTCACA 0.398 NA 16 70 0 0 0 0 PDHA2 5161 broad.mit.edu 37 4 96762253 96762253 + Missense_Mutation SNP C C G TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr4:96762253C>G uc003htr.3 + 1 1015 c.952C>G c.(952-954)CTC>GTC p.L318V NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 318 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) TATAATAATTCTCCAAGATAG 0.423 NA 11 42 0 0 0 0 METAP1 23173 broad.mit.edu 37 4 99982433 99982433 + Missense_Mutation SNP G G C TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr4:99982433G>C uc003huf.3 + 11 1243 c.1126G>C c.(1126-1128)GAC>CAC p.D376H METAP1_uc003hug.2_RNA|METAP1_uc010ild.2_RNA NM_015143 NP_055958 P53582 AMPM1_HUMAN methionyl aminopeptidase 1 376 N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation cytoplasm aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(123;3.12e-07) CCGGCGACTTGACAGTGCACG 0.488 NA 6 54 0 0 0 0 FAT4 79633 broad.mit.edu 37 4 126239489 126239489 + Silent SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr4:126239489G>A uc003ifj.3 + 1 1923 c.1923G>A c.(1921-1923)TTG>TTA p.L641L NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 641 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CTGGGAGGTTGAGTACTATTT 0.567 NA 7 25 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187630504 187630504 + Nonsense_Mutation SNP C C A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr4:187630504C>A uc003izf.2 - 2 666 c.478G>T c.(478-480)GAA>TAA p.E160* FAT1_uc010iso.1_Nonsense_Mutation_p.E160* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 160 Extracellular (Potential).|Cadherin 2. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 GCTGTGTTTTCAGGTAAAGAA 0.463 NA HNSCC(5;0.00058) 24 137 7.88e-14 8.88e-14 1 0 COL4A3BP 10087 broad.mit.edu 37 5 74801835 74801835 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr5:74801835G>A uc011csu.1 - 2 625 c.203C>T c.(202-204)TCC>TTC p.S68F COL4A3BP_uc003kds.2_Missense_Mutation_p.S68F|COL4A3BP_uc003kdt.2_Missense_Mutation_p.S196F|COL4A3BP_uc003kdu.2_Missense_Mutation_p.S68F NM_005713 NP_005704 Q9Y5P4 C43BP_HUMAN alpha 3 type IV collagen binding protein isoform 68 PH. ER to Golgi ceramide transport|immune response cytosol|endoplasmic reticulum membrane|Golgi apparatus ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity skin(1) 1 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;1e-53) AAGACAGATGGATCCTCTGCA 0.299 NA 6 67 0 0 0 0 VCAN 1462 broad.mit.edu 37 5 82834287 82834287 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr5:82834287C>T uc003kii.3 + 8 5821 c.5465C>T c.(5464-5466)ACC>ATC p.T1822I VCAN_uc003kij.3_Missense_Mutation_p.T835I|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.T486I NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 1822 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) GAAGGGCTGACCACTCTCCCA 0.488 NA 37 59 0 0 0 0 PDGFRB 5159 broad.mit.edu 37 5 149512334 149512334 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr5:149512334G>A uc003lro.2 - 7 1575 c.1106C>T c.(1105-1107)ACG>ATG p.T369M PDGFRB_uc010jhd.2_Missense_Mutation_p.T208M|PDGFRB_uc011dcg.1_3'UTR NM_002609 NP_002600 P09619 PGFRB_HUMAN platelet-derived growth factor receptor beta 369 Ig-like C2-type 4.|Extracellular (Potential). aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1) 17 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CACGTTGCGCGTGGACAGGGC 0.612 NA T ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP MPD|AML|CMML|CML 4 20 0 0 0 0 ATP10B 23120 broad.mit.edu 37 5 159992867 159992867 + Missense_Mutation SNP G G C TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr5:159992867G>C uc003lym.1 - 26 4826 c.3979C>G c.(3979-3981)CTA>GTA p.L1327V ATP10B_uc010jit.1_Missense_Mutation_p.L577V NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 1327 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTTGAGATTAGAGACTTCCCA 0.443 NA 16 111 0 0 0 0 RANBP17 64901 broad.mit.edu 37 5 170336684 170336684 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr5:170336684C>T uc003mba.2 + 6 525 c.509C>T c.(508-510)TCA>TTA p.S170L RANBP17_uc003max.1_RNA|RANBP17_uc003may.1_RNA|RANBP17_uc003maz.1_RNA|RANBP17_uc010jjr.1_RNA|RANBP17_uc003maw.2_Missense_Mutation_p.S170L|RANBP17_uc011dew.1_Missense_Mutation_p.S170L NM_022897 NP_075048 Q9H2T7 RBP17_HUMAN RAN binding protein 17 170 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TCTAGACCTTCAGCAAAACAC 0.289 NA T TRD@ ALL 4 32 0 0 0 0 OR2J3 442186 broad.mit.edu 37 6 29080240 29080240 + Silent SNP G G A rs138982330 by1000genomes TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr6:29080240G>A uc011dll.1 + 1 573 c.573G>A c.(571-573)TCG>TCA p.S191S NM_001005216 NP_001005216 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, 191 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGCGATTATCGTGTGTTGATA 0.463 NA 19 49 0 0 0 0 PIM1 5292 broad.mit.edu 37 6 37140900 37140900 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr6:37140900G>A uc003onk.2 + 5 1166 c.736G>A c.(736-738)GAA>AAA p.E246K PIM1_uc011dtw.1_Silent_p.T114T NM_002648 NP_002639 P11309 PIM1_HUMAN non-specific serine/threonine protein kinase 337 Protein kinase. cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation cytoplasm|nucleus|plasma membrane ATP binding|manganese ion binding|protein binding|protein binding|protein serine/threonine kinase activity|transcription factor binding large_intestine(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(102;0.241) Adenosine monophosphate(DB00131) CGAGCATGACGAAGAGATCAT 0.532 NA T BCL6 NHL 11 57 0 0 0 0 KCNK5 8645 broad.mit.edu 37 6 39158899 39158899 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr6:39158899C>T uc003oon.2 - 5 1631 c.1267G>A c.(1267-1269)GTG>ATG p.V423M NM_003740 NP_003731 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 423 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|skin(1) 2 TCCGTGTTCACGAAGGTGATG 0.617 NA 19 26 0 0 0 0 MDN1 23195 broad.mit.edu 37 6 90368044 90368044 + Missense_Mutation SNP C C G TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr6:90368044C>G uc003pnn.1 - 90 15183 c.15067G>C c.(15067-15069)GAG>CAG p.E5023Q NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 5023 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TCCAAAGCCTCTGGCACCTGC 0.552 NA 17 65 0 0 0 0 AHI1 54806 broad.mit.edu 37 6 135769486 135769486 + Missense_Mutation SNP C C G TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr6:135769486C>G uc003qgi.2 - 12 1952 c.1568G>C c.(1567-1569)AGA>ACA p.R523T AHI1_uc003qgg.2_5'UTR|AHI1_uc003qgh.2_Missense_Mutation_p.R523T|AHI1_uc003qgj.2_Missense_Mutation_p.R523T|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Missense_Mutation_p.R523T NM_001134831 NP_001128303 Q8N157 AHI1_HUMAN Abelson helper integration site 1 isoform a 523 adherens junction|cilium|microtubule basal body ovary(1)|kidney(1)|central_nervous_system(1) 3 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) GTAATGATTTCTTGGACATTT 0.383 NA 7 32 0 0 0 0 MAP3K4 4216 broad.mit.edu 37 6 161508788 161508788 + Silent SNP T T C TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr6:161508788T>C uc003qtn.2 + 10 2767 c.2625T>C c.(2623-2625)ATT>ATC p.I875I MAP3K4_uc010kkc.1_Silent_p.I875I|MAP3K4_uc003qto.2_Silent_p.I875I|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Silent_p.I328I NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 875 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding ovary(3)|lung(3)|skin(2)|stomach(1) 9 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) AGAAGAGTATTATTTTGCAGT 0.413 NA 3 82 0 0 0 0 SNX8 29886 broad.mit.edu 37 7 2317747 2317747 + Silent SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr7:2317747C>T uc003slw.2 - 2 331 c.288G>A c.(286-288)GAG>GAA p.E96E NM_013321 NP_037453 Q9Y5X2 SNX8_HUMAN sorting nexin 8 96 PX. cell communication|early endosome to Golgi transport|intracellular protein transport early endosome membrane phosphatidylinositol binding|protein binding large_intestine(1)|ovary(1) 2 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14) GGCTGGAAACCTCATACTCCA 0.582 NA 3 53 0 0 0 0 TTYH3 80727 broad.mit.edu 37 7 2687663 2687663 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr7:2687663C>T uc003smp.2 + 5 884 c.697C>T c.(697-699)CGC>TGC p.R233C TTYH3_uc010ksn.2_Intron|TTYH3_uc003smq.2_Missense_Mutation_p.R62C NM_025250 NP_079526 Q9C0H2 TTYH3_HUMAN tweety 3 233 Cytoplasmic (Potential). chloride channel complex|plasma membrane chloride channel activity 0 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.04e-14) TGGCCTCATCCGCAGCTCCAA 0.682 NA 8 51 0 0 0 0 ZAN 7455 broad.mit.edu 37 7 100345764 100345764 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr7:100345764C>T uc003uwj.2 + 10 1193 c.1028C>T c.(1027-1029)GCC>GTC p.A343V ZAN_uc003uwk.2_Missense_Mutation_p.A343V|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 343 MAM 2.|Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CTCCAGTTTGCCGTGGTAGGC 0.587 NA 3 21 0 0 0 0 ZC3HC1 51530 broad.mit.edu 37 7 129663445 129663445 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr7:129663445C>T uc003vpi.2 - 8 1166 c.1139G>A c.(1138-1140)CGA>CAA p.R380Q ZC3HC1_uc003vph.2_Missense_Mutation_p.R224Q|ZC3HC1_uc010lma.2_Intron NM_016478 NP_057562 Q86WB0 NIPA_HUMAN zinc finger, C3HC type 1 380 cell division|mitosis nucleus protein kinase binding|zinc ion binding 0 Melanoma(18;0.0435) TCCCATGCTTCGGGTCACTGG 0.617 NA 19 99 0 0 0 0 TBXAS1 6916 broad.mit.edu 37 7 139661761 139661761 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr7:139661761C>T uc011kqv.1 + 10 1168 c.1004C>T c.(1003-1005)TCT>TTT p.S335F TBXAS1_uc003vvh.2_Missense_Mutation_p.S289F|TBXAS1_uc010lne.2_Missense_Mutation_p.S221F|TBXAS1_uc011kqu.1_Missense_Mutation_p.S240F|TBXAS1_uc003vvi.2_Missense_Mutation_p.S289F|TBXAS1_uc003vvj.2_Missense_Mutation_p.S289F|TBXAS1_uc011kqw.1_Missense_Mutation_p.S269F NM_001130966 NP_001124438 P24557 THAS_HUMAN thromboxane A synthase 1, platelet isoform 288 Lumenal (Potential). hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity ovary(2)|breast(1) 3 Melanoma(164;0.0142) GCCCGACATTCTGCAAGTCCC 0.522 NA 9 26 0 0 0 0 UNC5D 137970 broad.mit.edu 37 8 35579850 35579850 + Missense_Mutation SNP G G A rs149536132 TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr8:35579850G>A uc003xjr.1 + 9 1568 c.1240G>A c.(1240-1242)GTC>ATC p.V414I UNC5D_uc003xjs.1_Missense_Mutation_p.V409I|UNC5D_uc003xju.1_5'Flank|UNC5D_uc003xjt.1_Missense_Mutation_p.V172I NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 414 Cytoplasmic (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TGGCGTGGACGTCATTGACTC 0.557 NA 25 144 0 0 0 0 RALYL 138046 broad.mit.edu 37 8 85799988 85799988 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr8:85799988G>A uc003ycq.3 + 9 1251 c.835G>A c.(835-837)GAT>AAT p.D279N RALYL_uc003ycr.3_Missense_Mutation_p.D279N|RALYL_uc003ycs.3_Missense_Mutation_p.D279N|RALYL_uc010lzy.2_Missense_Mutation_p.D268N|RALYL_uc003yct.3_Missense_Mutation_p.D292N|RALYL_uc003ycu.3_Missense_Mutation_p.D206N|RALYL_uc003ycv.3_Intron NM_001100392 NP_001093862 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like isoform 2 279 identical protein binding|nucleotide binding|RNA binding ovary(1) 1 GGAGGACTTCGATGAAGATGG 0.458 NA 12 72 0 0 0 0 CYP11B2 1585 broad.mit.edu 37 8 143999037 143999037 + Missense_Mutation SNP C C G TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr8:143999037C>G uc003yxk.1 - 1 223 c.220G>C c.(220-222)GAG>CAG p.E74Q NM_000498 NP_000489 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, 74 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity 0 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-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) Candesartan(DB00796)|Metyrapone(DB01011) GGCCCCAGCTCCTGGAAGGTC 0.637 NA Familial_Hyperaldosteronism_type_I 12 58 0 0 0 0 ABCA1 19 broad.mit.edu 37 9 107558478 107558478 + Silent SNP C C G TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr9:107558478C>G uc004bcl.2 - 39 5551 c.5238G>C c.(5236-5238)GGG>GGC p.G1746G NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 1746 Helical; (Potential). Missing (in Ref. 7; AAD49852). Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TGATTGACCACCTGTTGAGAC 0.512 NA 24 25 0 0 0 0 TIMP1 7076 broad.mit.edu 37 X 47442865 47442865 + Silent SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chrX:47442865G>A uc004dif.2 + 2 243 c.51G>A c.(49-51)CTG>CTA p.L17L SYN1_uc004did.2_Intron|SYN1_uc004die.2_Intron|TIMP1_uc011mlr.1_5'UTR|TIMP1_uc010nht.1_5'UTR NM_003254 NP_003245 P01033 TIMP1_HUMAN tissue inhibitor of metalloproteinase 1 17 erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation platelet alpha granule lumen metal ion binding|metalloendopeptidase inhibitor activity|protein binding 0 TGCTGTGGCTGATAGCCCCCA 0.652 NA 6 64 0 0 0 0 ZC3H12B 340554 broad.mit.edu 37 X 64722774 64722774 + Silent SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chrX:64722774G>A uc010nko.2 + 5 2172 c.2163G>A c.(2161-2163)CCG>CCA p.P721P NM_001010888 NP_001010888 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 721 endonuclease activity|nucleic acid binding|zinc ion binding lung(1)|kidney(1)|pancreas(1) 3 GCTGGGACCCGCTGCCCTGTA 0.577 NA 14 27 0 0 0 0 CYSLTR1 10800 broad.mit.edu 37 X 77529009 77529009 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chrX:77529009G>A uc004edb.2 - 3 635 c.235C>T c.(235-237)CGT>TGT p.R79C CYSLTR1_uc010nma.2_Missense_Mutation_p.R79C|CYSLTR1_uc010nmb.2_Missense_Mutation_p.R79C NM_006639 NP_006630 Q9Y271 CLTR1_HUMAN cysteinyl leukotriene receptor 1 79 Extracellular (Potential). elevation of cytosolic calcium ion concentration|respiratory gaseous exchange integral to plasma membrane|membrane fraction leukotriene receptor activity ovary(1) 1 Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549) TAGACCACACGGAGAGGCAGT 0.423 NA 7 54 0 0 0 0 TAF7L 54457 broad.mit.edu 37 X 100538563 100538563 + Missense_Mutation SNP G G A rs145455495 TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chrX:100538563G>A uc004ehb.2 - 4 424 c.412C>T c.(412-414)CGC>TGC p.R138C TAF7L_uc004eha.2_Missense_Mutation_p.R52C|TAF7L_uc004ehc.1_Missense_Mutation_p.R52C NM_024885 NP_079161 Q5H9L4 TAF7L_HUMAN TATA box binding protein-associated factor, RNA 138 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding breast(1) 1 ACTGCATGGCGCCCATCAGCT 0.398 NA 95 165 0 0 0 0 DOCK11 139818 broad.mit.edu 37 X 117699986 117699986 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chrX:117699986C>T uc004eqp.2 + 8 775 c.712C>T c.(712-714)CAT>TAT p.H238Y DOCK11_uc004eqq.2_Missense_Mutation_p.H4Y NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 238 PH. blood coagulation cytosol GTP binding ovary(3) 3 AATGCGCCGTCATGCTTTTGA 0.333 NA 20 185 0 0 0 0 GRIA3 2892 broad.mit.edu 37 X 122561966 122561966 + Silent SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chrX:122561966C>T uc004etq.3 + 13 2345 c.2052C>T c.(2050-2052)TCC>TCT p.S684S GRIA3_uc004etr.3_Silent_p.S684S|GRIA3_uc004ets.3_RNA NM_007325 NP_015564 P42263 GRIA3_HUMAN glutamate receptor, ionotrophic, AMPA 3 isoform 684 Extracellular (Potential). glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 L-Glutamic Acid(DB00142) CCCTGGACTCCGGTTCAACAA 0.423 NA 6 82 0 0 0 0 ODZ1 10178 broad.mit.edu 37 X 124097537 124097537 + Silent SNP A A T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chrX:124097537A>T uc004euj.2 - 1 130 c.66T>A c.(64-66)GCT>GCA p.A22A ODZ1_uc011muj.1_Silent_p.A22A|ODZ1_uc010nqy.2_Silent_p.A22A NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 22 Teneurin N-terminal.|Cytoplasmic (Potential). 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 AACTGGTGTAAGCTAGATCCA 0.443 NA 32 251 0 0 0 0 HS6ST2 90161 broad.mit.edu 37 X 132091167 132091167 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chrX:132091167G>A uc011mve.1 - 3 1032 c.616C>T c.(616-618)CCC>TCC p.P206S HS6ST2_uc011mvb.1_Missense_Mutation_p.P60S|HS6ST2_uc011mvc.1_Missense_Mutation_p.P60S|HS6ST2_uc011mvd.1_Missense_Mutation_p.P206S NM_147175 NP_671704 Q96MM7 H6ST2_HUMAN heparan sulfate 6-O-sulfotransferase 2 isoform 206 Lumenal (Potential). integral to membrane sulfotransferase activity 0 Acute lymphoblastic leukemia(192;0.000127) TTGTAGCGGGGCACGAACCTG 0.652 NA 15 43 0 0 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303808 151303808 + Silent SNP C C T rs139926957 byFrequency TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chrX:151303808C>T uc004ffk.2 - 5 693 c.285G>A c.(283-285)TCG>TCA p.S95S MAGEA10_uc004ffl.2_Silent_p.S95S NM_001011543 NP_001011543 P43363 MAGAA_HUMAN melanoma antigen family A, 10 95 0 Acute lymphoblastic leukemia(192;6.56e-05) AAGCAACGACCGAGGGGGAGG 0.532 NA 15 264 0 0 0 0 RENBP 5973 broad.mit.edu 37 X 153207481 153207481 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chrX:153207481C>T uc004fjo.1 - 7 861 c.691G>A c.(691-693)GAT>AAT p.D231N RENBP_uc011mzh.1_Intron NM_002910 NP_002901 P51606 RENBP_HUMAN renin binding protein 231 mannose metabolic process|regulation of blood pressure endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity ovary(1)|pancreas(1) 2 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) N-Acetyl-D-glucosamine(DB00141) GCTTGTCCATCCCTCTACCGG 0.617 NA 7 107 0 0 0 0 GDI1 2664 broad.mit.edu 37 X 153670046 153670046 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chrX:153670046G>A uc004fli.3 + 8 1238 c.896G>A c.(895-897)CGC>CAC p.R299H GDI1_uc011mzo.1_3'UTR|GDI1_uc004flj.2_5'Flank|FAM50A_uc004fll.3_5'Flank NM_001493 NP_001484 P31150 GDIA_HUMAN GDP dissociation inhibitor 1 299 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) CAGGTTATCCGCATCATCTGT 0.572 NA 7 90 0 0 0 0 NOTCH2 4853 broad.mit.edu 37 1 120466368 120466368 + Frame_Shift_Del DEL T T - TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr1:120466368delT uc001eik.2 - 26 5007 c.4751delA c.(4750-4752)CAGfs p.Q1584fs NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 1584 Negative regulatory region (NRR).|Extracellular (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.Q1584*(1) lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) GAGTTCCCCCTGGGAGTCCCG 0.542 NA N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome 19 47 --- --- --- --- NA NA NA NA SAV1 60485 broad.mit.edu 37 14 51132173 51132173 + Frame_Shift_Del DEL T T - TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr14:51132173delT uc001wyg.1 - 3 420 c.259delA c.(259-261)AGAfs p.R87fs SAV1_uc001wyh.1_Frame_Shift_Del_p.R87fs NM_021818 NP_068590 Q9H4B6 SAV1_HUMAN WW45 protein 87 hippo signaling cascade cytoplasm|nucleus identical protein binding breast(1) 1 all_epithelial(31;0.000611)|Breast(41;0.0333) CTTTCTCTTCTCATTATTTCA 0.393 NA 11 18 --- --- --- --- NA NA NA NA HNRNPL 3191 broad.mit.edu 37 19 39329085 39329086 + Frame_Shift_Ins INS - - A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr19:39329085_39329086insA uc010xul.1 - 10 1519_1520 c.1508_1509insT c.(1507-1509)CTGfs p.L503fs HNRNPL_uc010ege.1_Intron|HNRNPL_uc002ojj.1_Frame_Shift_Ins_p.L159fs|HNRNPL_uc002ojo.1_Frame_Shift_Ins_p.L81fs|HNRNPL_uc002ojk.2_Frame_Shift_Ins_p.L159fs|HNRNPL_uc002ojl.2_Frame_Shift_Ins_p.L159fs|HNRNPL_uc010xum.1_Frame_Shift_Ins_p.L370fs NM_001533 NP_001524 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 503 nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding 0 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) TGAAGAAGTGCAGCACGTTGCT 0.599 NA 8 27 --- --- --- --- NA NA NA NA GPRIN3 285513 broad.mit.edu 37 4 90170269 90170270 + In_Frame_Ins INS - - CTG TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr4:90170269_90170270insCTG uc003hsm.1 - 2 1511_1512 c.992_993insCAG c.(991-993)AGA>AGCAGA p.330_331insS NM_198281 NP_938022 Q6ZVF9 GRIN3_HUMAN G protein-regulated inducer of neurite outgrowth 330_331 ovary(3) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) TGGAGACGGATCTGCTCTCGAC 0.545 NA 12 68 --- --- --- --- NA NA NA NA ADH1B 125 broad.mit.edu 37 4 100237412 100237413 + Frame_Shift_Del DEL CT CT - TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr4:100237412_100237413delCT uc003hus.3 - 4 390_391 c.306_307delAG c.(304-309)AGAGTTfs p.R102fs ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Frame_Shift_Del_p.R62fs|ADH1B_uc011ceh.1_Splice_Site_p.M3_splice|ADH1B_uc011cei.1_Frame_Shift_Del_p.R62fs NM_000668 NP_000659 P00325 ADH1B_HUMAN class I alcohol dehydrogenase, beta subunit 102_103 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding ovary(1)|breast(1) 2 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) TTTTTACAAACTCTGCATTTTC 0.386 NA 11 57 --- --- --- --- NA NA NA NA HIST1H1B 3009 broad.mit.edu 37 6 27835120 27835130 + Frame_Shift_Del DEL GCCAAAGAAAG GCCAAAGAAAG - TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr6:27835120_27835130delGCCAAAGAAAG uc003njx.2 - 1 230_240 c.178_188delCTTTCTTTGGC c.(178-189)CTTTCTTTGGCAfs p.L60fs NM_005322 NP_005313 P16401 H15_HUMAN histone cluster 1, H1b 60_63 H15. nucleosome assembly nucleosome|nucleus DNA binding large_intestine(2)|lung(1) 3 CTTAAGGGCTGCCAAAGAAAGGCCATTGCGC 0.611 NA 9 146 --- --- --- --- NA NA NA NA CDC40 51362 broad.mit.edu 37 6 110501792 110501793 + Frame_Shift_Del DEL TC TC - TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr6:110501792_110501793delTC uc003pua.2 + 1 169_170 c.145_146delTC c.(145-147)TCTfs p.S49fs WASF1_uc003ptv.1_5'Flank|WASF1_uc003ptw.1_5'Flank|WASF1_uc003ptx.1_5'Flank|WASF1_uc003pty.1_5'Flank|WASF1_uc003ptz.1_5'Flank NM_015891 NP_056975 O60508 PRP17_HUMAN cell division cycle 40 homolog 49 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm 0 all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034) ATCAAAGCCGTCTCTAGCAGTG 0.554 NA 8 41 --- --- --- --- NA NA NA NA