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 UBR4 23352 broad.mit.edu 37 1 19524242 19524242 + Missense_Mutation SNP C C T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr1:19524242C>T uc001bbi.2 - 7 819 c.815G>A c.(814-816)CGG>CAG p.R272Q NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 272 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) ATCTTGGAACCGATTGATATA 0.443 NA 47 22 0 0 0 0 AKR7A2 8574 broad.mit.edu 37 1 19633547 19633547 + Missense_Mutation SNP T T C TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr1:19633547T>C uc001bbw.2 - 5 759 c.737A>G c.(736-738)CAG>CGG p.Q246R AKR7A2_uc001bbx.2_Missense_Mutation_p.Q211R NM_003689 NP_003680 O43488 ARK72_HUMAN aldo-keto reductase family 7, member A2 246 carbohydrate metabolic process|cellular aldehyde metabolic process Golgi apparatus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity central_nervous_system(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GCCCACAGGCTGTTTCCCGTC 0.622 NA 3 70 0 0 0 0 INADL 10207 broad.mit.edu 37 1 62234980 62234980 + Missense_Mutation SNP T T C TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr1:62234980T>C uc001dab.2 + 5 524 c.410T>C c.(409-411)ATA>ACA p.I137T INADL_uc009waf.1_Missense_Mutation_p.I137T|INADL_uc001daa.2_Missense_Mutation_p.I137T|INADL_uc001dad.3_5'Flank NM_176877 NP_795352 Q8NI35 INADL_HUMAN InaD-like 137 PDZ 1. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding ovary(3)|skin(1) 4 TATATAGATATAGAACGGCCT 0.428 NA 9 32 0 0 0 0 MCOLN2 255231 broad.mit.edu 37 1 85403472 85403472 + Missense_Mutation SNP C C T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr1:85403472C>T uc001dkm.2 - 11 1542 c.1301G>A c.(1300-1302)TGT>TAT p.C434Y MCOLN2_uc001dkn.2_RNA NM_153259 NP_694991 Q8IZK6 MCLN2_HUMAN mucolipin 2 434 Helical; (Potential). integral to membrane ion channel activity ovary(3)|upper_aerodigestive_tract(1) 4 all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217) AATCCAGCCACAGAATGTGTA 0.463 NA 16 7 0 0 0 0 CELSR2 1952 broad.mit.edu 37 1 109801082 109801082 + Silent SNP C C T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr1:109801082C>T uc001dxa.3 + 2 3400 c.3339C>T c.(3337-3339)TGC>TGT p.C1113C NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 1113 Cadherin 9.|Extracellular (Potential). dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CCGCCCAGTGCGCGCTGCGTG 0.622 NA 3 5 0 0 0 0 RBM15 64783 broad.mit.edu 37 1 110884036 110884036 + Missense_Mutation SNP C C T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr1:110884036C>T uc001dzl.1 + 1 2092 c.2009C>T c.(2008-2010)TCT>TTT p.S670F RBM15_uc001dzm.1_Missense_Mutation_p.S670F|uc001dzj.2_5'Flank NM_022768 NP_073605 Q96T37 RBM15_HUMAN RNA binding motif protein 15 670 Arg-rich. interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) TGCGCTCCTTCTCCTGACCGC 0.557 NA T MKL1 acute megakaryocytic leukemia 19 29 0 0 0 0 HRNR 388697 broad.mit.edu 37 1 152188022 152188022 + Missense_Mutation SNP C C G TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr1:152188022C>G uc001ezt.1 - 3 6159 c.6083G>C c.(6082-6084)AGC>ACC p.S2028T NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2028 22 keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTGGCCACAGCTCGATGACTG 0.562 NA 64 859 0 0 0 0 UBAP2L 9898 broad.mit.edu 37 1 154223543 154223543 + Missense_Mutation SNP G G A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr1:154223543G>A uc001fep.3 + 13 1407 c.1240G>A c.(1240-1242)GTG>ATG p.V414M UBAP2L_uc009wot.2_Missense_Mutation_p.V414M|UBAP2L_uc010pek.1_Missense_Mutation_p.V406M|UBAP2L_uc010pel.1_Missense_Mutation_p.V424M|UBAP2L_uc010pen.1_Missense_Mutation_p.V328M NM_014847 NP_055662 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like isoform a 414 binding of sperm to zona pellucida protein binding ovary(1)|central_nervous_system(1) 2 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGATTCAGCAGTGCACAGCCC 0.483 NA 32 54 0 0 0 0 IQGAP3 128239 broad.mit.edu 37 1 156510539 156510539 + Silent SNP G G T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr1:156510539G>T uc001fpf.2 - 23 2775 c.2700C>A c.(2698-2700)ATC>ATA p.I900I NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 900 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity ovary(5)|skin(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGCCAATCTTGATGTCCATGA 0.562 NA 30 31 3.73e-12 6.19e-12 1 0 FCRL4 83417 broad.mit.edu 37 1 157559108 157559108 + Missense_Mutation SNP C C T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr1:157559108C>T uc001fqw.2 - 3 329 c.193G>A c.(193-195)GAA>AAA p.E65K FCRL4_uc010phy.1_RNA NM_031282 NP_112572 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 precursor 65 Extracellular (Potential).|Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity ovary(2)|kidney(1)|skin(1) 4 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) GTCAACTTTTCTCCCCAGTAG 0.517 NA 8 53 0 0 0 0 CD5L 922 broad.mit.edu 37 1 157805833 157805833 + Missense_Mutation SNP C C A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr1:157805833C>A uc001frk.3 - 3 311 c.168G>T c.(166-168)AAG>AAT p.K56N NM_005894 NP_005885 O43866 CD5L_HUMAN CD5 molecule-like precursor 56 SRCR 1. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity ovary(1) 1 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CAGCCACGTCCTTAATGTCCC 0.612 NA 6 167 0.00116845 0.0017736 1 0 ADAMTS4 9507 broad.mit.edu 37 1 161163765 161163765 + Missense_Mutation SNP C C T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr1:161163765C>T uc001fyt.3 - 5 1936 c.1508G>A c.(1507-1509)GGT>GAT p.G503D NM_005099 NP_005090 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 503 Disintegrin. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding ovary(4)|central_nervous_system(1) 5 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GCAGCGACCACCCATGCAGGC 0.652 NA 20 21 0 0 0 0 RC3H1 149041 broad.mit.edu 37 1 173915954 173915954 + Missense_Mutation SNP G G A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr1:173915954G>A uc001gju.3 - 15 2845 c.2758C>T c.(2758-2760)CAC>TAC p.H920Y RC3H1_uc010pms.1_Missense_Mutation_p.H920Y|RC3H1_uc001gjv.2_Missense_Mutation_p.H920Y|RC3H1_uc010pmt.1_Missense_Mutation_p.H920Y NM_172071 NP_742068 Q5TC82 RC3H1_HUMAN roquin 920 cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 CAGCCACCGTGGGTTCCATAT 0.368 NA 16 35 0 0 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204226792 204226792 + Nonsense_Mutation SNP G G A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr1:204226792G>A uc001hau.2 - 9 1530 c.1213C>T c.(1213-1215)CAG>TAG p.Q405* PLEKHA6_uc009xaw.1_Nonsense_Mutation_p.Q29*|PLEKHA6_uc009xax.1_Nonsense_Mutation_p.Q29*|PLEKHA6_uc009xay.1_Nonsense_Mutation_p.Q29*|PLEKHA6_uc009xaz.1_Nonsense_Mutation_p.Q29*|PLEKHA6_uc009xba.1_Nonsense_Mutation_p.Q29*|PLEKHA6_uc009xbb.1_Nonsense_Mutation_p.Q29*|PLEKHA6_uc009xbc.1_Nonsense_Mutation_p.Q29* NM_014935 NP_055750 Q9Y2H5 PKHA6_HUMAN phosphoinositol 3-phosphate-binding protein-3 405 ovary(3)|pancreas(1) 4 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) TCTCGCAGCTGGTAGGCAGGG 0.652 NA 8 11 0 0 0 0 SLC41A1 254428 broad.mit.edu 37 1 205779508 205779508 + Missense_Mutation SNP G G A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr1:205779508G>A uc001hdh.1 - 2 934 c.62C>T c.(61-63)TCT>TTT p.S21F NM_173854 NP_776253 Q8IVJ1 S41A1_HUMAN solute carrier family 41 member 1 21 integral to membrane|plasma membrane magnesium ion transmembrane transporter activity skin(2) 2 Breast(84;0.0799) BRCA - Breast invasive adenocarcinoma(75;0.0252) AGAGCAGGGAGAGGCAGAAGG 0.612 NA OREG0014163 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 39 0 0 0 0 OR2AK2 391191 broad.mit.edu 37 1 248128809 248128809 + Missense_Mutation SNP T T C TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr1:248128809T>C uc010pzd.1 + 1 176 c.176T>C c.(175-177)ATG>ACG p.M59T OR2L13_uc001ids.2_Intron NM_001004491 NP_001004491 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, 59 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) GGAAATATCATGCTGATCCAC 0.448 NA 18 221 0 0 0 0 UPF2 26019 broad.mit.edu 37 10 12001352 12001352 + Missense_Mutation SNP G G T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr10:12001352G>T uc001ila.2 - 11 2662 c.2188C>A c.(2188-2190)CAA>AAA p.Q730K UPF2_uc001ilb.2_Missense_Mutation_p.Q730K|UPF2_uc001ilc.2_Missense_Mutation_p.Q730K|UPF2_uc009xiz.1_Missense_Mutation_p.Q730K NM_080599 NP_542166 Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog 730 MIF4G 2.|Sufficient for interaction with UPF3A and UPF3B. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding central_nervous_system(2)|ovary(1) 3 Renal(717;0.228) CTCATCATTTGCTCCTGAAAT 0.363 NA 9 27 3.1e-07 4.95e-07 1 0 DHTKD1 55526 broad.mit.edu 37 10 12126710 12126710 + Missense_Mutation SNP A A C TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr10:12126710A>C uc001ild.3 + 3 581 c.482A>C c.(481-483)GAA>GCA p.E161A NM_018706 NP_061176 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain 161 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding ovary(1)|central_nervous_system(1) 2 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) TTTACCACAGAAGAGCGAAAA 0.353 NA 45 92 0 0 0 0 RET 5979 broad.mit.edu 37 10 43604571 43604571 + Missense_Mutation SNP G G A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr10:43604571G>A uc001jal.2 + 6 1346 c.1156G>A c.(1156-1158)GCG>ACG p.A386T RET_uc001jak.1_Missense_Mutation_p.A386T|RET_uc010qez.1_Missense_Mutation_p.A132T NM_020975 NP_066124 P07949 RET_HUMAN ret proto-oncogene isoform a 386 Extracellular (Potential). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1) 451 Ovarian(717;0.0423) Sunitinib(DB01268) GGGCCCAGGAGCGGGCGTCCT 0.632 1 T|Mis|N|F H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3 medullary thyroid| papillary thyroid|pheochromocytoma medullary thyroid| papillary thyroid|pheochromocytoma Hirschsprung disease Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma 20 23 0 0 0 0 PCDH15 65217 broad.mit.edu 37 10 55849763 55849763 + Missense_Mutation SNP C C A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr10:55849763C>A uc001jju.1 - 16 2373 c.1978G>T c.(1978-1980)GTT>TTT p.V660F PCDH15_uc010qhq.1_Missense_Mutation_p.V665F|PCDH15_uc010qhr.1_Missense_Mutation_p.V660F|PCDH15_uc010qhs.1_Missense_Mutation_p.V672F|PCDH15_uc010qht.1_Missense_Mutation_p.V667F|PCDH15_uc010qhu.1_Missense_Mutation_p.V660F|PCDH15_uc001jjv.1_Missense_Mutation_p.V638F|PCDH15_uc010qhv.1_Missense_Mutation_p.V660F|PCDH15_uc010qhw.1_Missense_Mutation_p.V623F|PCDH15_uc010qhx.1_Intron|PCDH15_uc010qhy.1_Missense_Mutation_p.V665F|PCDH15_uc010qhz.1_Missense_Mutation_p.V660F|PCDH15_uc010qia.1_Missense_Mutation_p.V638F|PCDH15_uc010qib.1_Missense_Mutation_p.V638F|PCDH15_uc001jjw.2_Missense_Mutation_p.V660F NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 660 Cadherin 6.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) AGATTAAAAACTCTCTGAGGA 0.338 NA HNSCC(58;0.16) 29 94 8.89e-20 1.52e-19 1 0 FAM22D 728130 broad.mit.edu 37 10 89118157 89118157 + Silent SNP T T C TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr10:89118157T>C uc001kes.2 + 1 681 c.135T>C c.(133-135)AGT>AGC p.S45S FAM22D_uc009xte.1_Silent_p.S45S NM_001009610 NP_001009610 Q5VT03 FA22D_HUMAN hypothetical protein LOC728130 45 0 CGGTAGTCAGTGCCCAGCCTG 0.512 NA 17 443 0 0 0 0 DRD4 1815 broad.mit.edu 37 11 639780 639780 + Silent SNP G G A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr11:639780G>A uc001lqp.1 + 3 531 c.531G>A c.(529-531)GTG>GTA p.V177V NM_000797 NP_000788 P21917 DRD4_HUMAN dopamine receptor D4 177 Extracellular (Potential). activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior integral to plasma membrane dopamine D4 receptor activity|drug binding|potassium channel regulator activity|SH3 domain binding 0 all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703) Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246) TCAACGACGTGCGCGGCCGCG 0.726 NA 7 7 0 0 0 0 OR51E2 81285 broad.mit.edu 37 11 4703785 4703785 + Missense_Mutation SNP T T C TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr11:4703785T>C uc001lzk.2 - 2 401 c.157A>G c.(157-159)AGC>GGC p.S53G NM_030774 NP_110401 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, 53 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity lung(3)|ovary(2) 5 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) GCGTGCAGGCTGCGTTCCGTC 0.512 NA 3 77 0 0 0 0 PTPRJ 5795 broad.mit.edu 37 11 48158579 48158579 + Missense_Mutation SNP A A C TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr11:48158579A>C uc001ngp.3 + 10 2253 c.1898A>C c.(1897-1899)GAT>GCT p.D633A PTPRJ_uc010rhr.1_Missense_Mutation_p.D78A NM_002843 NP_002834 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 633 Extracellular (Potential).|Fibronectin type-III 7. contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|kidney(3)|ovary(1)|skin(1) 8 TCCAACATTGATGTAAGTACC 0.398 NA 12 87 0 0 0 0 MED17 9440 broad.mit.edu 37 11 93527025 93527025 + Missense_Mutation SNP A A G TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr11:93527025A>G uc001pem.3 + 4 1044 c.769A>G c.(769-771)ATC>GTC p.I257V NM_004268 NP_004259 Q9NVC6 MED17_HUMAN mediator complex subunit 17 257 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GTCTGCATATATCAAGGTATT 0.299 NA 14 407 0 0 0 0 TMPRSS13 84000 broad.mit.edu 37 11 117789522 117789522 + Missense_Mutation SNP C C G TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr11:117789522C>G uc001prs.1 - 2 146 c.53G>C c.(52-54)GGA>GCA p.G18A TMPRSS13_uc009yzr.1_5'UTR|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.1_Missense_Mutation_p.G18A NM_001077263 NP_001070731 Q9BYE2 TMPSD_HUMAN transmembrane protease, serine 13 18 4 X 5 AA repeats of T-P-P-G-R.|2-1; approximate.|12 X 5 AA repeats of A-S-P-A-[GLQR].|Cytoplasmic (Potential).|Ala-rich. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity pancreas(1) 1 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106) TGGAGATGCTCCAGCTGAAGG 0.617 NA 13 24 0 0 0 0 ZNF384 171017 broad.mit.edu 37 12 6788350 6788350 + Splice_Site SNP C C G TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr12:6788350C>G uc010sfh.1 - 4 275 c.67_splice c.e4-1 p.I23_splice ZNF384_uc001qpz.2_Splice_Site_p.I23_splice|ZNF384_uc001qqa.2_Splice_Site_p.I23_splice|ZNF384_uc001qqb.2_Splice_Site_p.I23_splice|ZNF384_uc001qqc.2_Splice_Site_p.I23_splice|ZNF384_uc001qqd.2_Splice_Site_p.I23_splice|ZNF384_uc001qqe.2_Splice_Site_p.I23_splice|ZNF384_uc009zew.1_5'Flank NM_001135734 NP_001129206 Q8TF68 ZN384_HUMAN nuclear matrix transcription factor 4 isoform d regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/ZNF384(4) haematopoietic_and_lymphoid_tissue(4)|central_nervous_system(3)|kidney(1) 8 TGTTCTCGATCTAAGAGAAAA 0.532 NA T EWSR1|TAF15 ALL 26 47 0 0 0 0 ALG10B 144245 broad.mit.edu 37 12 38712166 38712166 + Missense_Mutation SNP C C T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr12:38712166C>T uc001rln.3 + 2 414 c.275C>T c.(274-276)TCC>TTC p.S92F ALG10B_uc001rlo.3_Missense_Mutation_p.S62F|ALG10B_uc010skk.1_Missense_Mutation_p.S32F NM_001013620 NP_001013642 Q5I7T1 AG10B_HUMAN asparagine-linked glycosylation 10 homolog B 92 Cytoplasmic (Potential). dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|plasma membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity ovary(2)|skin(1) 3 Esophageal squamous(101;0.187) Lung NSC(34;0.204)|all_lung(34;0.235) GTTGTCTGCTCCATTGGGATG 0.418 NA 7 98 0 0 0 0 ALG10B 144245 broad.mit.edu 37 12 38714315 38714315 + Missense_Mutation SNP C C G TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr12:38714315C>G uc001rln.3 + 3 861 c.722C>G c.(721-723)TCC>TGC p.S241C ALG10B_uc001rlo.3_Missense_Mutation_p.S211C|ALG10B_uc010skk.1_Missense_Mutation_p.S181C NM_001013620 NP_001013642 Q5I7T1 AG10B_HUMAN asparagine-linked glycosylation 10 homolog B 241 Cytoplasmic (Potential). dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|plasma membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity ovary(2)|skin(1) 3 Esophageal squamous(101;0.187) Lung NSC(34;0.204)|all_lung(34;0.235) TTGGCTTATTCCATGTCCTTT 0.368 NA 9 114 0 0 0 0 ALG10B 144245 broad.mit.edu 37 12 38714762 38714762 + Nonsense_Mutation SNP C C G TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr12:38714762C>G uc001rln.3 + 3 1308 c.1169C>G c.(1168-1170)TCA>TGA p.S390* ALG10B_uc001rlo.3_Nonsense_Mutation_p.S360*|ALG10B_uc010skk.1_Nonsense_Mutation_p.S330* NM_001013620 NP_001013642 Q5I7T1 AG10B_HUMAN asparagine-linked glycosylation 10 homolog B 390 Cytoplasmic (Potential). dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|plasma membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity ovary(2)|skin(1) 3 Esophageal squamous(101;0.187) Lung NSC(34;0.204)|all_lung(34;0.235) TCATTGAAATCAAAGCCAATT 0.313 NA 6 59 0 0 0 0 NAV3 89795 broad.mit.edu 37 12 78513391 78513391 + Missense_Mutation SNP C C A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr12:78513391C>A uc001syp.2 + 15 3588 c.3415C>A c.(3415-3417)CCC>ACC p.P1139T NAV3_uc001syo.2_Missense_Mutation_p.P1139T|NAV3_uc010sub.1_Missense_Mutation_p.P639T|NAV3_uc009zsf.2_Missense_Mutation_p.P147T NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1139 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 TCGCAGCTTGCCCCGCCCTTC 0.512 NA HNSCC(70;0.22) 23 51 3.01e-09 4.92e-09 1 0 NR2C1 7181 broad.mit.edu 37 12 95442958 95442958 + Silent SNP G G A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr12:95442958G>A uc001tdm.3 - 9 1273 c.1017C>T c.(1015-1017)TGC>TGT p.C339C NR2C1_uc010suu.1_Silent_p.C339C|NR2C1_uc001tdo.3_Silent_p.C339C|NR2C1_uc001tdn.3_Silent_p.C339C NM_003297 NP_003288 P13056 NR2C1_HUMAN nuclear receptor subfamily 2, group C, member 1 339 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor PML body sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1) 1 CTGAGCTCTGGCAGGCTGTGC 0.468 NA 44 78 0 0 0 0 NEDD1 121441 broad.mit.edu 37 12 97337517 97337517 + Nonsense_Mutation SNP G G T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr12:97337517G>T uc001teu.3 + 12 1813 c.1474G>T c.(1474-1476)GAA>TAA p.E492* NEDD1_uc001tev.3_Nonsense_Mutation_p.E492*|NEDD1_uc010svc.1_Nonsense_Mutation_p.E403*|NEDD1_uc001tew.2_Nonsense_Mutation_p.E499*|NEDD1_uc001tex.2_Nonsense_Mutation_p.E403* NM_152905 NP_690869 Q8NHV4 NEDD1_HUMAN neural precursor cell expressed, developmentally 492 cell division|G2/M transition of mitotic cell cycle|mitosis cytosol 0 GGGAAAACAGGAATCTAAAGA 0.383 NA 12 22 7.04e-09 1.15e-08 1 0 UBC 7316 broad.mit.edu 37 12 125398267 125398267 + Silent SNP A A C TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr12:125398267A>C uc001ugs.3 - 2 499 c.51T>G c.(49-51)GTT>GTG p.V17V UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Silent_p.V17V|UBC_uc001ugt.2_Silent_p.V17V|UBC_uc001ugv.2_Silent_p.V17V|UBC_uc001ugw.2_5'UTR|UBC_uc009zyf.1_RNA NM_021009 NP_066289 P0CG48 UBC_HUMAN ubiquitin C 17 Ubiquitin-like 1. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) CACTGGGCTCAACCTCGAGGG 0.473 NA 4 217 0 0 0 0 CATSPER2 117155 broad.mit.edu 37 15 43939610 43939610 + Missense_Mutation SNP G G C TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr15:43939610G>C uc001zsh.2 - 3 416 c.201C>G c.(199-201)TTC>TTG p.F67L CATSPER2_uc010bdm.2_RNA|CATSPER2_uc001zsi.2_Missense_Mutation_p.F67L|CATSPER2_uc001zsj.2_Missense_Mutation_p.F67L|CATSPER2_uc001zsk.2_Missense_Mutation_p.F67L|CATSPER2_uc001zsl.1_RNA NM_172095 NP_742093 Q96P56 CTSR2_HUMAN sperm-associated cation channel 2 isoform 2 67 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|protein binding|voltage-gated ion channel activity ovary(1) 1 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) GCTTTATAGAGAAACGCACTA 0.443 NA 52 59 0 0 0 0 UNC13C 440279 broad.mit.edu 37 15 54305533 54305533 + Missense_Mutation SNP A A G TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr15:54305533A>G uc002ack.2 + 1 433 c.433A>G c.(433-435)ACA>GCA p.T145A NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 145 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GGCACAATCAACACACACAAT 0.458 NA 4 87 0 0 0 0 PIGB 9488 broad.mit.edu 37 15 55626120 55626120 + Missense_Mutation SNP A A C TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr15:55626120A>C uc002act.2 + 6 1025 c.709A>C c.(709-711)ATT>CTT p.I237L PIGB_uc010ugg.1_Missense_Mutation_p.I42L NM_004855 NP_004846 Q92521 PIGB_HUMAN phosphatidylinositol glycan, class B 237 Helical; (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane integral to membrane|intrinsic to endoplasmic reticulum membrane glycolipid mannosyltransferase activity 0 all cancers(107;0.0255) CACAGCTGTCATTCTGTGGAC 0.398 NA 7 43 0 0 0 0 AP3B2 8120 broad.mit.edu 37 15 83349371 83349371 + Missense_Mutation SNP C C T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr15:83349371C>T uc010uoh.1 - 8 1085 c.908G>A c.(907-909)CGG>CAG p.R303Q AP3B2_uc010uoi.1_Missense_Mutation_p.R303Q|AP3B2_uc010uoj.1_Missense_Mutation_p.R271Q|AP3B2_uc010uog.1_5'Flank NM_004644 NP_004635 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 303 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity ovary(3)|breast(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.229) CAGCAGCAGCCGGTGGTCGGG 0.706 NA 4 29 0 0 0 0 TM6SF1 53346 broad.mit.edu 37 15 83796130 83796130 + Silent SNP T T C TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr15:83796130T>C uc002bjp.2 + 9 931 c.822T>C c.(820-822)TAT>TAC p.Y274Y TM6SF1_uc010bmq.2_Silent_p.Y243Y|TM6SF1_uc002bjq.2_Missense_Mutation_p.F168L|TM6SF1_uc010bmr.2_RNA|TM6SF1_uc002bjr.2_Silent_p.Y126Y NM_023003 NP_075379 Q9BZW5 TM6S1_HUMAN transmembrane 6 superfamily member 1 isoform 1 274 Helical; (Potential). integral to membrane ovary(1) 1 ATATGTTCTATTCTGTTCCTT 0.408 NA 132 113 0 0 0 0 ZNF592 9640 broad.mit.edu 37 15 85333936 85333936 + Missense_Mutation SNP A A G TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr15:85333936A>G uc002bld.2 + 5 2557 c.2221A>G c.(2221-2223)ACC>GCC p.T741A ZNF592_uc010upb.1_RNA NM_014630 NP_055445 Q92610 ZN592_HUMAN zinc finger protein 592 741 C2H2-type 4. cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(143;0.0587) TCTTTCCTAGACCTGCCAGGT 0.552 NA 29 64 0 0 0 0 DNAH3 55567 broad.mit.edu 37 16 20944608 20944608 + Missense_Mutation SNP A A T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr16:20944608A>T uc010vbe.1 - 62 12219 c.12219T>A c.(12217-12219)AGT>AGA p.S4073R DNAH3_uc010vbd.1_Missense_Mutation_p.S1508R NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 4073 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) CTCTGCGGGCACTTGTTTTGT 0.512 NA 58 104 0 0 0 0 GGA2 23062 broad.mit.edu 37 16 23480233 23480233 + Missense_Mutation SNP T T C TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr16:23480233T>C uc002dlq.2 - 16 1781 c.1705A>G c.(1705-1707)ATG>GTG p.M569V NM_015044 NP_055859 Q9UJY4 GGA2_HUMAN ADP-ribosylation factor binding protein 2 569 GAE. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network ADP-ribosylation factor binding ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(48;0.0386) AGCAGCAGCATCTGAGATATC 0.512 NA 29 39 0 0 0 0 KIF22 3835 broad.mit.edu 37 16 29814096 29814096 + Silent SNP A A G TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr16:29814096A>G uc002dts.3 + 9 1311 c.1287A>G c.(1285-1287)CTA>CTG p.L429L uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|KIF22_uc010vdv.1_Silent_p.L361L|KIF22_uc010vdw.1_Silent_p.L361L|KIF22_uc010bzf.2_Silent_p.L361L|KIF22_uc002dtt.1_5'Flank|KIF22_uc002frc.1_5'Flank NM_007317 NP_015556 Q14807 KIF22_HUMAN kinesin family member 22 429 APASASQKLSPLQKLSSMDPAMLERLLSLDRLLASQGSQ -> SSSLCLPETQPPTEAKAAWTRPCGAPPQLGPSACLPGE P (in Ref. 2; BAA33063). blood coagulation|DNA repair|microtubule-based movement|mitosis cytosol|kinetochore|microtubule|nucleus ATP binding|DNA binding|microtubule motor activity|protein binding 0 TCAGCCCCCTACAGAAGCTAA 0.592 NA 3 93 0 0 0 0 ASPHD1 253982 broad.mit.edu 37 16 29913176 29913176 + Missense_Mutation SNP T T C TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr16:29913176T>C uc002dut.2 + 1 1030 c.884T>C c.(883-885)CTC>CCC p.L295P uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_5'Flank|SEZ6L2_uc002dur.3_5'Flank|SEZ6L2_uc002duq.3_5'Flank|SEZ6L2_uc002dus.3_5'Flank|SEZ6L2_uc010vec.1_5'Flank|SEZ6L2_uc010ved.1_5'Flank|ASPHD1_uc002duu.3_RNA|ASPHD1_uc010bzi.2_RNA NM_181718 NP_859069 Q5U4P2 ASPH1_HUMAN aspartate beta-hydroxylase domain containing 1 295 Lumenal (Potential). peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity 0 TTTTCCGTTCTCCTGCCTGGG 0.657 NA 14 16 0 0 0 0 ZNF646 9726 broad.mit.edu 37 16 31089215 31089215 + Missense_Mutation SNP A A T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr16:31089215A>T uc002eap.2 + 2 1859 c.1570A>T c.(1570-1572)ATC>TTC p.I524F NM_014699 NP_055514 O15015 ZN646_HUMAN zinc finger protein 646 524 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(2) 2 AAGTGCAGACATCGGGGCTGA 0.622 NA 10 16 0 0 0 0 SNX20 124460 broad.mit.edu 37 16 50707787 50707787 + Silent SNP G G A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr16:50707787G>A uc002egk.2 - 4 654 c.481C>T c.(481-483)CTG>TTG p.L161L SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron NM_182854 NP_878274 Q7Z614 SNX20_HUMAN sorting nexin 20 isoform 1 161 PX. cell communication|protein transport endosome membrane|nucleus|plasma membrane phosphatidylinositol binding|protein binding ovary(1) 1 TACTCCTGCAGGGCGCGCCGA 0.647 NA 5 25 0 0 0 0 CTCF 10664 broad.mit.edu 37 16 67670700 67670700 + Nonsense_Mutation SNP A A T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr16:67670700A>T uc002etl.2 + 11 2235 c.1945A>T c.(1945-1947)AAG>TAG p.K649* CTCF_uc010cek.2_Nonsense_Mutation_p.K321*|CTCF_uc002etm.1_Nonsense_Mutation_p.K138* NM_006565 NP_006556 P49711 CTCF_HUMAN CCCTC-binding factor 649 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) ACCACCCGCCAAGAAGCGGAG 0.587 NA 79 135 0 0 0 0 TSNAXIP1 55815 broad.mit.edu 37 16 67861219 67861219 + Missense_Mutation SNP G G A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr16:67861219G>A uc002euj.2 + 14 1964 c.1570G>A c.(1570-1572)GGC>AGC p.G524S TSNAXIP1_uc010vjz.1_Missense_Mutation_p.G401S|TSNAXIP1_uc002euf.3_Missense_Mutation_p.G257S|TSNAXIP1_uc010vka.1_Missense_Mutation_p.G578S|TSNAXIP1_uc010vkb.1_Missense_Mutation_p.G509S|TSNAXIP1_uc002eug.3_Missense_Mutation_p.G232S|TSNAXIP1_uc002euh.3_Missense_Mutation_p.G232S|TSNAXIP1_uc002eui.3_Missense_Mutation_p.G232S|TSNAXIP1_uc002euk.2_Missense_Mutation_p.G257S NM_018430 NP_060900 Q2TAA8 TXIP1_HUMAN translin-associated factor X interacting protein 524 cell differentiation|multicellular organismal development|spermatogenesis perinuclear region of cytoplasm 0 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125) GGAGGCAGGGGGCTGGCATCC 0.597 NA 32 36 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7579386 7579386 + Nonsense_Mutation SNP T T A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr17:7579386T>A uc002gim.2 - 4 495 c.301A>T c.(301-303)AAA>TAA p.K101* TP53_uc002gig.1_Nonsense_Mutation_p.K101*|TP53_uc002gih.2_Nonsense_Mutation_p.K101*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Nonsense_Mutation_p.K101*|TP53_uc010cni.1_Nonsense_Mutation_p.K101*|TP53_uc002gij.2_Nonsense_Mutation_p.K101*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Nonsense_Mutation_p.K62*|TP53_uc010cnk.1_Nonsense_Mutation_p.K116* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 101 Interaction with HIPK1 (By similarity).|Interaction with WWOX. K -> R (in sporadic cancers; somatic mutation).|K -> N (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.0?(7)|p.K101R(3)|p.G59fs*23(3)|p.T102fs*21(2)|p.V73fs*9(1)|p.K101fs*48(1)|p.K101N(1)|p.W91fs*13(1)|p.K101*(1)|p.P13fs*18(1)|p.S33fs*23(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) TGGTAGGTTTTCTGGGAAGGG 0.642 111 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) 33 8 0 0 0 0 SEZ6 124925 broad.mit.edu 37 17 27308731 27308731 + Missense_Mutation SNP C C T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr17:27308731C>T uc002hdp.2 - 2 576 c.382G>A c.(382-384)GCG>ACG p.A128T SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.A128T|SEZ6_uc002hdq.1_Missense_Mutation_p.A3T|SEZ6_uc010crz.1_Missense_Mutation_p.A128T NM_178860 NP_849191 Q53EL9 SEZ6_HUMAN seizure related 6 homolog isoform 1 128 Pro-rich.|Extracellular (Potential). integral to membrane|plasma membrane large_intestine(1)|central_nervous_system(1) 2 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) GTGGGTACCGCAGCCATGGCT 0.652 NA 13 21 0 0 0 0 RFFL 117584 broad.mit.edu 37 17 33343508 33343508 + Missense_Mutation SNP C C T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr17:33343508C>T uc002hin.1 - 5 940 c.767G>A c.(766-768)CGG>CAG p.R256Q RFFL_uc002hiq.2_Missense_Mutation_p.R173Q|RFFL_uc002him.1_Missense_Mutation_p.R256Q|RFFL_uc010cti.1_Missense_Mutation_p.R262Q|RFFL_uc002hip.1_Missense_Mutation_p.R228Q|RFFL_uc002hio.1_Missense_Mutation_p.R256Q NM_001017368 NP_001017368 Q8WZ73 RFFL_HUMAN rififylin 256 SAP 2. apoptosis membrane ligase activity|zinc ion binding 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) TTTCAGCTGCCGCACTGTCAG 0.537 NA 10 163 0 0 0 0 KRT26 353288 broad.mit.edu 37 17 38926053 38926053 + Missense_Mutation SNP G G A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr17:38926053G>A uc002hvf.2 - 5 968 c.922C>T c.(922-924)CGC>TGC p.R308C NM_181539 NP_853517 Q7Z3Y9 K1C26_HUMAN keratin 26 308 Rod.|Coil 2. intermediate filament structural molecule activity 0 Breast(137;0.00526) TGCAGATTGCGTTTTAATTCG 0.438 NA 45 20 0 0 0 0 H3F3B 3021 broad.mit.edu 37 17 73775146 73775146 + Missense_Mutation SNP T T A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr17:73775146T>A uc002jpl.2 - 2 243 c.110A>T c.(109-111)AAG>ATG p.K37M NM_005324 NP_005315 P84243 H33_HUMAN H3 histone, family 3B 37 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding ovary(1) 1 all_cancers(13;1.5e-07) all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) ATGAGGCTTCTTCACCCCGCC 0.662 NA OREG0024740 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 19 0 0 0 0 ANGPTL6 83854 broad.mit.edu 37 19 10204170 10204170 + Silent SNP G G A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr19:10204170G>A uc002mmx.1 - 5 1195 c.1077C>T c.(1075-1077)GCC>GCT p.A359A ANGPTL6_uc002mmy.1_Silent_p.A359A NM_031917 NP_114123 Q8NI99 ANGL6_HUMAN angiopoietin-like 6 precursor 359 Fibrinogen C-terminal. angiogenesis|cell differentiation|signal transduction extracellular space receptor binding 0 OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05) CATCATAGTGGGCACGTGCTC 0.612 NA 15 31 0 0 0 0 CCDC105 126402 broad.mit.edu 37 19 15132682 15132682 + Missense_Mutation SNP A A G TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr19:15132682A>G uc002nae.2 + 6 1301 c.1202A>G c.(1201-1203)TAC>TGC p.Y401C NM_173482 NP_775753 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 401 microtubule cytoskeleton organization microtubule ovary(1) 1 GTTCGCATGTACCAGAGACAC 0.632 NA 15 34 0 0 0 0 C19orf50 79036 broad.mit.edu 37 19 18675832 18675832 + Splice_Site SNP G G A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr19:18675832G>A uc002njo.2 + 3 396 c.254_splice c.e3+1 p.R85_splice C19orf50_uc002njp.2_Splice_Site|C19orf50_uc002njq.2_Splice_Site_p.R85_splice NM_024069 NP_076974 Q9BQD3 CS050_HUMAN hypothetical protein LOC79036 protein binding 0 GCCGTATCAGGTGGGTGCTCA 0.587 NA 32 44 0 0 0 0 NUDT19 390916 broad.mit.edu 37 19 33200149 33200149 + Missense_Mutation SNP C C G TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr19:33200149C>G uc010edf.2 + 2 773 c.773C>G c.(772-774)CCC>CGC p.P258R NM_001105570 NP_001099040 A8MXV4 NUD19_HUMAN nudix (nucleoside diphosphate linked moiety 258 Nudix hydrolase. mitochondrion|peroxisome hydrolase activity|metal ion binding 0 Esophageal squamous(110;0.137) TGGTTGCCACCCCCACAGTTC 0.433 NA 29 229 0 0 0 0 GRLF1 2909 broad.mit.edu 37 19 47492882 47492882 + Missense_Mutation SNP C C T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr19:47492882C>T uc010ekv.2 + 4 3986 c.3986C>T c.(3985-3987)CCT>CTT p.P1329L NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 1329 Rho-GAP. axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) TCAGAACTGCCTGACCCCCTG 0.542 NA 52 86 0 0 0 0 DKKL1 27120 broad.mit.edu 37 19 49867878 49867878 + Missense_Mutation SNP T T C TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr19:49867878T>C uc002pnk.2 + 2 264 c.50T>C c.(49-51)CTG>CCG p.L17P TEAD2_uc002pni.2_5'Flank|TEAD2_uc002pnj.2_5'Flank|TEAD2_uc010yao.1_5'Flank|TEAD2_uc010emw.2_5'Flank NM_014419 NP_055234 Q9UK85 DKKL1_HUMAN dickkopf-like 1 precursor 17 anatomical structure morphogenesis extracellular space protein binding|signal transducer activity 0 all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456) CTGCTGGTCCTGCTGCTGCTC 0.677 NA 3 55 0 0 0 0 PRKD3 23683 broad.mit.edu 37 2 37501741 37501741 + Missense_Mutation SNP T T A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr2:37501741T>A uc002rqd.2 - 10 2029 c.1474A>T c.(1474-1476)ACT>TCT p.T492S PRKD3_uc002rqe.1_Missense_Mutation_p.T92S|PRKD3_uc002rqf.1_Missense_Mutation_p.T492S NM_005813 NP_005804 O94806 KPCD3_HUMAN protein kinase D3 492 PH. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity lung(2)|ovary(1)|central_nervous_system(1) 4 all_hematologic(82;0.21) TATACCATAGTATCAGTAATG 0.423 NA 26 28 0 0 0 0 ZNF638 27332 broad.mit.edu 37 2 71629115 71629115 + Silent SNP C C G TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr2:71629115C>G uc002shx.2 + 16 3046 c.2727C>G c.(2725-2727)GTC>GTG p.V909V ZNF638_uc010yqw.1_Silent_p.V488V|ZNF638_uc002shy.2_Silent_p.V909V|ZNF638_uc002shz.2_Silent_p.V909V|ZNF638_uc002sia.2_Silent_p.V909V|ZNF638_uc002sib.1_Silent_p.V909V|ZNF638_uc010fed.2_RNA|ZNF638_uc002sic.2_Silent_p.V6V NM_014497 NP_055312 Q14966 ZN638_HUMAN zinc finger protein 638 909 RRM 2. RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 TGATGCTTGTCTCTAATTTGC 0.269 NA 18 34 0 0 0 0 DYSF 8291 broad.mit.edu 37 2 71901427 71901427 + Splice_Site SNP G G A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr2:71901427G>A uc002sie.2 + 51 6143 c.5767_splice c.e51+1 p.G1923_splice DYSF_uc010feg.2_Splice_Site_p.G1954_splice|DYSF_uc010feh.2_Splice_Site_p.G1930_splice|DYSF_uc002sig.3_Splice_Site_p.G1909_splice|DYSF_uc010yqx.1_Splice_Site|DYSF_uc010fee.2_Splice_Site_p.G1944_splice|DYSF_uc010fef.2_Splice_Site_p.G1961_splice|DYSF_uc010fei.2_Splice_Site_p.G1940_splice|DYSF_uc010fek.2_Splice_Site_p.G1941_splice|DYSF_uc010fej.2_Splice_Site_p.G1931_splice|DYSF_uc010fel.2_Splice_Site_p.G1910_splice|DYSF_uc010feo.2_Splice_Site_p.G1955_splice|DYSF_uc010fem.2_Splice_Site_p.G1945_splice|DYSF_uc010fen.2_Splice_Site_p.G1962_splice|DYSF_uc002sif.2_Splice_Site_p.G1924_splice|DYSF_uc010yqy.1_Splice_Site_p.G804_splice|DYSF_uc010yqz.1_Splice_Site_p.G684_splice NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 GATTTTCTGGGTAAGCGCTAT 0.522 NA 15 28 0 0 0 0 TUBA3E 112714 broad.mit.edu 37 2 130949610 130949610 + Missense_Mutation SNP C C T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr2:130949610C>T uc002tqv.2 - 5 1248 c.1147G>A c.(1147-1149)GCC>ACC p.A383T NM_207312 NP_997195 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 383 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity skin(1) 1 Colorectal(110;0.1) TCCGCAATGGCCGTGGTGTTG 0.632 NA 48 84 0 0 0 0 RIF1 55183 broad.mit.edu 37 2 152266962 152266962 + Missense_Mutation SNP C C T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr2:152266962C>T uc002txm.2 + 2 155 c.25C>T c.(25-27)CTC>TTC p.L9F RIF1_uc002txl.2_Missense_Mutation_p.L9F|RIF1_uc010fnv.1_Intron|RIF1_uc002txn.2_Missense_Mutation_p.L9F|RIF1_uc002txo.2_Missense_Mutation_p.L9F|RIF1_uc010zby.1_RNA NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN RAP1 interacting factor 1 9 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1) 15 BRCA - Breast invasive adenocarcinoma(221;0.0429) TCAGAGCCCCCTCGCGCCGCT 0.652 NA OREG0015013 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 53 0 0 0 0 TTC21B 79809 broad.mit.edu 37 2 166764213 166764213 + Missense_Mutation SNP C C T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr2:166764213C>T uc002udk.2 - 19 2676 c.2543G>A c.(2542-2544)GGT>GAT p.G848D NM_024753 NP_079029 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 848 TPR 12. cilium axoneme|cytoplasm|cytoskeleton binding ovary(2)|pancreas(2)|breast(1) 5 GATCGCATCACCAAGTTTTTC 0.393 NA 17 19 0 0 0 0 HECW2 57520 broad.mit.edu 37 2 197081812 197081812 + Missense_Mutation SNP G G A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr2:197081812G>A uc002utm.1 - 27 4597 c.4414C>T c.(4414-4416)CAT>TAT p.H1472Y HECW2_uc002utl.1_Missense_Mutation_p.H1116Y NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 1472 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 TGATTGTCATGGTATCCTATC 0.388 NA 11 100 0 0 0 0 C2orf62 375307 broad.mit.edu 37 2 219221907 219221907 + Missense_Mutation SNP C C T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr2:219221907C>T uc002vhr.2 + 2 144 c.115C>T c.(115-117)CTC>TTC p.L39F C2orf62_uc002vhs.2_5'Flank NM_198559 NP_940961 Q7Z7H3 CB062_HUMAN hypothetical protein LOC375307 39 0 Renal(207;0.0915) Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTCAGCTCCCTCCGTGAGCT 0.547 NA 23 38 0 0 0 0 BCS1L 617 broad.mit.edu 37 2 219526164 219526164 + Missense_Mutation SNP G G A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr2:219526164G>A uc002vio.2 + 3 774 c.356G>A c.(355-357)CGA>CAA p.R119Q ZNF142_uc002vin.2_5'Flank|ZNF142_uc010fvt.2_5'Flank|ZNF142_uc002vim.2_5'Flank|BCS1L_uc002vip.2_Missense_Mutation_p.R119Q|BCS1L_uc002viq.2_Missense_Mutation_p.R119Q|BCS1L_uc010fvu.2_Missense_Mutation_p.R119Q|BCS1L_uc010fvv.2_Missense_Mutation_p.R119Q|BCS1L_uc002vir.2_Missense_Mutation_p.R119Q|BCS1L_uc002vis.2_Missense_Mutation_p.R119Q NM_004328 NP_004319 Q9Y276 BCS1_HUMAN BCS1-like 119 Mitochondrial matrix (Potential). mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly integral to membrane|mitochondrial respiratory chain complex III ATP binding|nucleoside-triphosphatase activity|protein binding 0 Renal(207;0.0474) Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GAACGAAGTCGAGAGATGCAG 0.493 NA 76 56 0 0 0 0 STK36 27148 broad.mit.edu 37 2 219543897 219543897 + Silent SNP C C T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr2:219543897C>T uc002viu.2 + 7 957 c.691C>T c.(691-693)CTG>TTG p.L231L STK36_uc002viv.2_Silent_p.L231L NM_015690 NP_056505 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 231 Protein kinase. cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 11 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) GTAGAACTTCCTGCAGGGACT 0.478 NA 39 85 0 0 0 0 CHRND 1144 broad.mit.edu 37 2 233399048 233399048 + Missense_Mutation SNP A A C rs144433265 TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr2:233399048A>C uc002vsw.2 + 11 1371 c.1367A>C c.(1366-1368)AAT>ACT p.N456T CHRND_uc010zmg.1_Missense_Mutation_p.N441T|CHRND_uc010fyc.2_Missense_Mutation_p.N329T|CHRND_uc010zmh.1_Missense_Mutation_p.N262T NM_000751 NP_000742 Q07001 ACHD_HUMAN nicotinic acetylcholine receptor delta 456 Cytoplasmic (Potential). muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1)|breast(1)|skin(1) 3 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) AACAATTACAATGAGGTAAGG 0.488 NA 7 98 0 0 0 0 USP40 55230 broad.mit.edu 37 2 234460155 234460155 + Nonsense_Mutation SNP A A C TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr2:234460155A>C uc010zmu.1 - 7 822 c.704T>G c.(703-705)TTA>TGA p.L235* USP40_uc010zmr.1_Nonsense_Mutation_p.L247*|USP40_uc010zmt.1_5'Flank Q9NVE5 UBP40_HUMAN SubName: Full=cDNA FLJ56772, highly similar to Ubiquitin carboxyl-terminal hydrolase 40 (EC 3.1.2.15); 235 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(1)|lung(1)|breast(1) 3 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) CAGCTTACGTAATTTGGCCGA 0.308 NA 11 9 0 0 0 0 TBC1D20 128637 broad.mit.edu 37 20 428589 428589 + Missense_Mutation SNP C C T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr20:428589C>T uc002wds.2 - 2 338 c.200G>A c.(199-201)CGA>CAA p.R67Q TBC1D20_uc002wdv.2_5'UTR|TBC1D20_uc002wdt.2_RNA|TBC1D20_uc002wdu.2_RNA NM_144628 NP_653229 Q96BZ9 TBC20_HUMAN TBC1 domain family, member 20 67 Rab-GAP TBC. interspecies interaction between organisms integral to membrane|intracellular Rab GTPase activator activity central_nervous_system(1) 1 all_epithelial(17;0.228)|Breast(17;0.231) CCACACTTTTCGTCTGATCTC 0.537 NA 8 60 0 0 0 0 PAX1 5075 broad.mit.edu 37 20 21695341 21695341 + Missense_Mutation SNP C C T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr20:21695341C>T uc002wsj.2 + 5 1559 c.1505C>T c.(1504-1506)GCA>GTA p.A502V PAX1_uc010zsl.1_3'UTR|PAX1_uc010zsm.1_3'UTR NM_006192 NP_006183 P15863 PAX1_HUMAN paired box 1 502 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding upper_aerodigestive_tract(1)|kidney(1) 2 CCGCGGGGTGCACGCCCAGCC 0.687 NA 13 24 0 0 0 0 RALGAPB 57148 broad.mit.edu 37 20 37199442 37199442 + Missense_Mutation SNP A A T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr20:37199442A>T uc002xiw.2 + 28 4351 c.4094A>T c.(4093-4095)GAG>GTG p.E1365V RALGAPB_uc002xix.2_Missense_Mutation_p.E1362V|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.2_Missense_Mutation_p.E1144V NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit 1365 Rap-GAP. activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity pancreas(1)|skin(1) 2 CTGATGACAGAGATCAGTACT 0.358 NA 22 29 0 0 0 0 GRIK1 2897 broad.mit.edu 37 21 30934039 30934039 + Silent SNP G G T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr21:30934039G>T uc002yno.1 - 15 2726 c.2262C>A c.(2260-2262)TCC>TCA p.S754S GRIK1_uc002ynn.2_Silent_p.S739S|GRIK1_uc011acs.1_Silent_p.S754S|GRIK1_uc011act.1_Silent_p.S615S NM_000830 NP_000821 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 754 Extracellular (Potential). central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity large_intestine(1)|ovary(1)|skin(1) 3 L-Glutamic Acid(DB00142)|Topiramate(DB00273) CAATGCTGGTGGACTCCATCA 0.542 NA 19 36 2.39e-15 4.02e-15 1 0 HUNK 30811 broad.mit.edu 37 21 33296871 33296871 + Missense_Mutation SNP T T C TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr21:33296871T>C uc002yph.2 + 2 713 c.353T>C c.(352-354)ATC>ACC p.I118T NM_014586 NP_055401 P57058 HUNK_HUMAN hormonally upregulated Neu-associated kinase 118 Protein kinase. multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity stomach(1)|skin(1) 2 CAGCAGATGATCCGCCACCCC 0.493 NA 21 23 0 0 0 0 TCP10L 140290 broad.mit.edu 37 21 33951084 33951084 + Missense_Mutation SNP G G A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr21:33951084G>A uc002ypw.3 - 4 534 c.418C>T c.(418-420)CCC>TCC p.P140S NM_144659 NP_653260 Q9NV44 CU077_HUMAN T-complex 10A-2 Error:Variant_position_missing_in_Q9NV44_after_alignment 0 GCGTATTTGGGTATTGTCTCT 0.433 NA 56 64 0 0 0 0 MORC3 23515 broad.mit.edu 37 21 37736544 37736544 + Missense_Mutation SNP C C G TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr21:37736544C>G uc002yvi.2 + 14 1682 c.1606C>G c.(1606-1608)CCT>GCT p.P536A NM_015358 NP_056173 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 536 cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization aggresome|intermediate filament cytoskeleton|PML body ATP binding|zinc ion binding ovary(2) 2 TCAGTCTGAACCTGAGAGCAA 0.398 NA 12 28 0 0 0 0 CLTCL1 8218 broad.mit.edu 37 22 19209568 19209568 + Missense_Mutation SNP C C G TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr22:19209568C>G uc002zpb.2 - 16 2542 c.2467G>C c.(2467-2469)GAT>CAT p.D823H CLTCL1_uc011agv.1_Missense_Mutation_p.D823H|CLTCL1_uc011agw.1_Missense_Mutation_p.D823H NM_007098 NP_009029 P53675 CLH2_HUMAN clathrin, heavy polypeptide-like 1 isoform 1 823 Proximal segment.|Heavy chain arm. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity ovary(4)|central_nervous_system(1) 5 Colorectal(54;0.0993) TCAGAACAATCCACATCAAGC 0.443 NA T ? ALCL 43 84 0 0 0 0 CAMK1 8536 broad.mit.edu 37 3 9807481 9807481 + Silent SNP C C T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr3:9807481C>T uc003bst.2 - 3 355 c.177G>A c.(175-177)AAG>AAA p.K59K OGG1_uc003bsk.2_Intron|OGG1_uc003bsl.2_Intron|OGG1_uc003bsm.2_Intron|OGG1_uc003bsn.2_Intron|OGG1_uc003bso.2_Intron|CAMK1_uc003bsu.2_RNA NM_003656 NP_003647 Q14012 KCC1A_HUMAN calcium/calmodulin-dependent protein kinase I 59 Protein kinase. cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(1)|skin(1) 2 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.0475) TGCTGCCTTCCTTGCCCTCCA 0.527 NA 29 6 0 0 0 0 USP19 10869 broad.mit.edu 37 3 49151435 49151435 + Missense_Mutation SNP C C T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr3:49151435C>T uc003cwd.1 - 16 2347 c.2186G>A c.(2185-2187)CGT>CAT p.R729H USP19_uc003cwa.2_Missense_Mutation_p.R537H|USP19_uc003cvz.3_Missense_Mutation_p.R832H|USP19_uc011bcg.1_Missense_Mutation_p.R820H|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Missense_Mutation_p.R487H|USP19_uc011bch.1_Missense_Mutation_p.R830H NM_006677 NP_006668 O94966 UBP19_HUMAN ubiquitin thioesterase 19 729 Cytoplasmic (Potential). ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(4)|breast(2)|lung(1) 7 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CTCCGCCAAACGCAGGTTCTC 0.512 NA 7 21 0 0 0 0 USP19 10869 broad.mit.edu 37 3 49154907 49154907 + Missense_Mutation SNP G G T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr3:49154907G>T uc003cwd.1 - 5 730 c.569C>A c.(568-570)CCC>CAC p.P190H USP19_uc003cwa.2_5'UTR|USP19_uc003cvz.3_Missense_Mutation_p.P190H|USP19_uc011bcg.1_Missense_Mutation_p.P190H|USP19_uc003cwb.2_Missense_Mutation_p.P175H|USP19_uc003cwc.1_5'Flank|USP19_uc011bch.1_Missense_Mutation_p.P190H|USP19_uc011bci.1_Missense_Mutation_p.P175H NM_006677 NP_006668 O94966 UBP19_HUMAN ubiquitin thioesterase 19 190 Cytoplasmic (Potential).|CS 1. ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(4)|breast(2)|lung(1) 7 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CACCTTTTTGGGCAGTGTCAG 0.552 NA 31 10 1.75e-13 2.94e-13 1 0 PLA1A 51365 broad.mit.edu 37 3 119331938 119331938 + Missense_Mutation SNP G G A rs140761557 TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr3:119331938G>A uc003ecu.2 + 5 676 c.637G>A c.(637-639)GTG>ATG p.V213M PLA1A_uc003ecv.2_Missense_Mutation_p.V197M|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_Missense_Mutation_p.V40M NM_015900 NP_056984 Q53H76 PLA1A_HUMAN phospholipase A1 member A precursor 213 V -> T (in Ref. 4; BAD96425). lipid catabolic process|phosphatidylserine metabolic process extracellular region phospholipase A1 activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 TGCCCTCTTCGTGGAAGCCAT 0.572 NA 11 11 0 0 0 0 GOLGB1 2804 broad.mit.edu 37 3 121410533 121410533 + Missense_Mutation SNP G G T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr3:121410533G>T uc003eei.3 - 14 7789 c.7663C>A c.(7663-7665)CTT>ATT p.L2555I GOLGB1_uc010hrc.2_Missense_Mutation_p.L2560I|GOLGB1_uc003eej.3_Missense_Mutation_p.L2521I NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 2555 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) TGAACTTCAAGAAGCTGCTTT 0.388 NA 88 66 3.14e-36 5.42e-36 1 0 DNAJC13 23317 broad.mit.edu 37 3 132185174 132185174 + Nonsense_Mutation SNP C C G TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr3:132185174C>G uc003eor.2 + 19 2065 c.2000C>G c.(1999-2001)TCA>TGA p.S667* DNAJC13_uc010htq.1_Nonsense_Mutation_p.S667* NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 667 heat shock protein binding ovary(1)|breast(1) 2 TTGGAAAGCTCAGATCTCGTA 0.378 NA 21 57 0 0 0 0 C4orf50 389197 broad.mit.edu 37 4 5961272 5961272 + Missense_Mutation SNP G G A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr4:5961272G>A uc003git.1 - 7 751 c.661C>T c.(661-663)CGT>TGT p.R221C NM_207405 NP_997288 Q6ZRC1 CD050_HUMAN hypothetical protein LOC389197 221 pancreas(2)|breast(1) 3 TCTTGCAGACGTTGTGCGGGG 0.587 NA 21 32 0 0 0 0 SLC34A2 10568 broad.mit.edu 37 4 25676210 25676210 + Missense_Mutation SNP G G A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr4:25676210G>A uc003grr.2 + 12 1498 c.1417G>A c.(1417-1419)GCC>ACC p.A473T SLC34A2_uc003grs.2_Missense_Mutation_p.A472T|SLC34A2_uc010iev.2_Missense_Mutation_p.A472T NM_006424 NP_006415 O95436 NPT2B_HUMAN solute carrier family 34 (sodium phosphate), 473 Extracellular (Potential). cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity skin(3)|ovary(1)|kidney(1) 5 Breast(46;0.0503) CATCCTGGCCGCCTTAGCCAG 0.607 NA 49 60 0 0 0 0 NPFFR2 10886 broad.mit.edu 37 4 72994497 72994497 + Missense_Mutation SNP T T G TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr4:72994497T>G uc003hgg.2 + 2 593 c.495T>G c.(493-495)AAT>AAG p.N165K NPFFR2_uc010iig.1_Intron|NPFFR2_uc003hgi.2_Missense_Mutation_p.N66K|NPFFR2_uc003hgh.2_Missense_Mutation_p.N63K NM_004885 NP_004876 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 isoform 1 165 Helical; Name=1; (Potential). detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity ovary(2)|central_nervous_system(1) 3 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) TGATGGGAAATACTGTGGTTT 0.358 NA 40 51 0 0 0 0 PRMT10 90826 broad.mit.edu 37 4 148559781 148559781 + Missense_Mutation SNP C C T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr4:148559781C>T uc003ilc.2 - 12 2582 c.2440G>A c.(2440-2442)GTT>ATT p.V814I PRMT10_uc003ilb.2_Missense_Mutation_p.V458I|PRMT10_uc003ild.2_Missense_Mutation_p.V701I NM_138364 NP_612373 Q6P2P2 ANM10_HUMAN protein arginine methyltransferase 10 814 cytoplasm binding|protein methyltransferase activity ovary(1)|central_nervous_system(1) 2 TCTAAAACAACTGCAGCTTGT 0.413 NA 20 20 0 0 0 0 KLHL2 11275 broad.mit.edu 37 4 166238995 166238995 + Missense_Mutation SNP G G T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr4:166238995G>T uc003irb.2 + 14 1886 c.1627G>T c.(1627-1629)GGT>TGT p.G543C KLHL2_uc011cjm.1_Missense_Mutation_p.G547C|KLHL2_uc003irc.2_Missense_Mutation_p.G455C|KLHL2_uc010ira.2_Missense_Mutation_p.G196C NM_007246 NP_009177 O95198 KLHL2_HUMAN kelch-like 2, Mayven isoform 1 543 Kelch 5. intracellular protein transport actin cytoskeleton|cytoplasm actin binding|transporter activity 0 all_hematologic(180;0.221) GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927) TGCAGTTAATGGTCTGTTATA 0.348 NA 26 12 5.62e-17 9.52e-17 1 0 IRX4 50805 broad.mit.edu 37 5 1879828 1879828 + Missense_Mutation SNP T T C TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr5:1879828T>C uc003jcz.2 - 4 645 c.526A>G c.(526-528)ATC>GTC p.I176V IRX4_uc011cmf.1_Missense_Mutation_p.I37V NM_016358 NP_057442 P78413 IRX4_HUMAN iroquois homeobox 4 176 Homeobox; TALE-type. heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GBM - Glioblastoma multiforme(108;0.242) GCCAGCATGATCTTCTCGCCC 0.642 NA 35 53 0 0 0 0 DNAH5 1767 broad.mit.edu 37 5 13830247 13830247 + Missense_Mutation SNP G G C TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr5:13830247G>C uc003jfd.2 - 37 6179 c.6137C>G c.(6136-6138)GCC>GGC p.A2046G NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2046 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) AATTTGCTGGGCTGCAACCGA 0.383 NA Kartagener_syndrome 20 20 0 0 0 0 IL7R 3575 broad.mit.edu 37 5 35876219 35876219 + Missense_Mutation SNP G G T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr5:35876219G>T uc003jjs.2 + 8 1100 c.1011G>T c.(1009-1011)AAG>AAT p.K337N IL7R_uc011cop.1_RNA NM_002185 NP_002176 P16871 IL7RA_HUMAN interleukin 7 receptor precursor 337 Cytoplasmic (Potential). immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity ovary(3)|breast(1)|skin(1) 5 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) AATCTGAGAAGCAGAGGCTTG 0.488 NA 15 38 4.15e-12 6.86e-12 1 0 ELL2 22936 broad.mit.edu 37 5 95242283 95242283 + Missense_Mutation SNP G G T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr5:95242283G>T uc003klr.3 - 5 1035 c.685C>A c.(685-687)CAG>AAG p.Q229K NM_012081 NP_036213 O00472 ELL2_HUMAN elongation factor, RNA polymerase II, 2 229 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter transcription elongation factor complex central_nervous_system(1) 1 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) CCATCTTTCTGGAGTCTAGCA 0.502 NA 14 122 4.38e-07 6.97e-07 1 0 FBN2 2201 broad.mit.edu 37 5 127670501 127670501 + Missense_Mutation SNP T T A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr5:127670501T>A uc003kuu.2 - 31 4448 c.4009A>T c.(4009-4011)ATG>TTG p.M1337L FBN2_uc003kuv.2_Missense_Mutation_p.M1304L NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1337 EGF-like 21; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TCCCCAAACATGCAGATATTT 0.378 NA 27 37 0 0 0 0 PRELID1 27166 broad.mit.edu 37 5 176732933 176732933 + Missense_Mutation SNP G G T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr5:176732933G>T uc003mfx.2 + 3 532 c.380G>T c.(379-381)CGC>CTC p.R127L RAB24_uc003mfu.2_5'Flank|RAB24_uc003mfv.2_5'Flank|RAB24_uc003mfw.2_5'Flank|PRELID1_uc003mfy.2_Missense_Mutation_p.R127L|MXD3_uc010jkk.2_3'UTR NM_013237 NP_037369 Q9Y255 PRLD1_HUMAN PRELI domain containing 1 precursor 127 PRELI/MSF1. R -> H (in Ref. 1; AAF09255). immune response|multicellular organismal development mitochondrion|nucleus 0 all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACTGAAATCCGCCGGGAAGCC 0.547 NA 24 36 3.67e-16 6.2e-16 1 0 TDRD6 221400 broad.mit.edu 37 6 46656253 46656253 + Missense_Mutation SNP G G A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr6:46656253G>A uc003oyj.2 + 1 388 c.388G>A c.(388-390)GTG>ATG p.V130M TDRD6_uc010jze.2_Missense_Mutation_p.V124M NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 130 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) GCTGGGCTGCGTGCTAGCGGG 0.706 NA 5 6 0 0 0 0 SFRS18 25957 broad.mit.edu 37 6 99848618 99848618 + Missense_Mutation SNP T T A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr6:99848618T>A uc003ppo.3 - 12 2444 c.2216A>T c.(2215-2217)GAT>GTT p.D739V SFRS18_uc003ppl.2_Missense_Mutation_p.D285V|SFRS18_uc003ppp.3_Missense_Mutation_p.D739V|SFRS18_uc011eag.1_Missense_Mutation_p.D739V NM_032870 NP_116259 Q8TF01 PNISR_HUMAN splicing factor, arginine/serine-rich 130 739 Ser-rich. nuclear speck 0 all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0631) TTTCTTACTATCCTGTCTAGA 0.353 NA 44 80 0 0 0 0 C6orf170 221322 broad.mit.edu 37 6 121615732 121615732 + Silent SNP T T C TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr6:121615732T>C uc003pyo.1 - 11 1283 c.1215A>G c.(1213-1215)GGA>GGG p.G405G C6orf170_uc003pyq.1_RNA|C6orf170_uc003pyp.1_5'Flank NM_152730 NP_689943 Q96NH3 BROMI_HUMAN hypothetical protein LOC221322 405 multicellular organismal development cilium|cytoplasm Rab GTPase activator activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(226;0.00521) GCTTTGAATGTCCCAAAGTTT 0.279 NA 58 74 0 0 0 0 MTHFD1L 25902 broad.mit.edu 37 6 151293090 151293090 + Missense_Mutation SNP C C A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr6:151293090C>A uc003qob.2 + 20 2289 c.2021C>A c.(2020-2022)CCT>CAT p.P674H MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Missense_Mutation_p.P675H|MTHFD1L_uc003qoc.2_Missense_Mutation_p.P622H NM_015440 NP_056255 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ 674 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity ovary(3)|large_intestine(1) 4 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) TAGGGGACACCTGTGTTCGTG 0.443 NA 17 76 1.5e-11 2.47e-11 1 0 TMEM195 392636 broad.mit.edu 37 7 15584411 15584411 + Missense_Mutation SNP T T G TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr7:15584411T>G uc003stb.1 - 3 565 c.395A>C c.(394-396)CAT>CCT p.H132P NM_001004320 NP_001004320 Q6ZNB7 ALKMO_HUMAN transmembrane protein 195 132 Histidine box-1. H->A: Loss of function; when associated with A-136; A-145; A-148; A-149; A-221; A-224 and A-225. ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding 0 AGCCATACGATGGAACCAGTA 0.318 NA 6 100 0 0 0 0 PRPS1L1 221823 broad.mit.edu 37 7 18067176 18067176 + Missense_Mutation SNP C C A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr7:18067176C>A uc003stz.2 - 1 311 c.230G>T c.(229-231)TGC>TTC p.C77F NM_175886 NP_787082 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 77 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity ovary(1) 1 Lung NSC(10;0.0385)|all_lung(11;0.0736) AGCAATCTTGCAGGCATTAAT 0.483 NA 110 164 5.77e-36 9.93e-36 1 0 POU6F2 11281 broad.mit.edu 37 7 39472771 39472771 + Silent SNP G G A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr7:39472771G>A uc003thb.1 + 7 1164 c.1122G>A c.(1120-1122)CAG>CAA p.Q374Q NM_007252 NP_009183 P78424 PO6F2_HUMAN POU class 6 homeobox 2 isoform 1 374 Gln-rich. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 TCACCCCCCAGCTCCTCACAA 0.587 NA 5 59 0 0 0 0 NPC1L1 29881 broad.mit.edu 37 7 44578580 44578580 + Silent SNP G G A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr7:44578580G>A uc003tlb.2 - 2 1472 c.1416C>T c.(1414-1416)TAC>TAT p.Y472Y NPC1L1_uc003tlc.2_Silent_p.Y472Y|NPC1L1_uc011kbw.1_Silent_p.Y472Y|NPC1L1_uc003tld.2_Silent_p.Y472Y NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Niemann-Pick C1-like protein 1 isoform 1 472 Extracellular (Potential). cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 Ezetimibe(DB00973) TGAGGGGGGCGTAGCAGATGT 0.592 NA 12 26 0 0 0 0 ELN 2006 broad.mit.edu 37 7 73480043 73480043 + Silent SNP C C T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr7:73480043C>T uc003tzw.2 + 30 2122 c.2031C>T c.(2029-2031)GCC>GCT p.A677A RFC2_uc011kfa.1_Intron|ELN_uc003tzn.2_Silent_p.A671A|ELN_uc003tzz.2_Silent_p.A590A|ELN_uc003tzo.2_Silent_p.A623A|ELN_uc003tzp.2_Silent_p.A582A|ELN_uc003tzq.2_Silent_p.A535A|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Silent_p.A652A|ELN_uc003tzt.2_Silent_p.A676A|ELN_uc003tzu.2_Silent_p.A657A|ELN_uc003tzv.2_Silent_p.A642A|ELN_uc003tzx.2_Silent_p.A661A|ELN_uc011kff.1_Silent_p.A671A|ELN_uc003tzy.2_Silent_p.A647A NM_000501 NP_001075224 P15502 ELN_HUMAN elastin isoform a precursor 733 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding ovary(3)|pancreas(2) 5 Lung NSC(55;0.159) Rofecoxib(DB00533) CAGCTGCAGCCGCTAAAGCAG 0.547 NA T PAX5 B-ALL Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome 15 24 0 0 0 0 MAGI2 9863 broad.mit.edu 37 7 77885383 77885383 + Missense_Mutation SNP C C T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr7:77885383C>T uc003ugx.2 - 10 2178 c.1924G>A c.(1924-1926)GAA>AAA p.E642K MAGI2_uc003ugy.2_Missense_Mutation_p.E642K|MAGI2_uc010ldx.1_Missense_Mutation_p.E251K|MAGI2_uc010ldy.1_Missense_Mutation_p.E251K|MAGI2_uc011kgr.1_Missense_Mutation_p.E474K|MAGI2_uc011kgs.1_Missense_Mutation_p.E479K NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 642 PDZ 3. cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) AGGTCGCCTTCACACAGGCCA 0.493 NA 10 12 0 0 0 0 PDK4 5166 broad.mit.edu 37 7 95224465 95224465 + Missense_Mutation SNP C C A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr7:95224465C>A uc003uoa.2 - 2 462 c.142G>T c.(142-144)GCA>TCA p.A48S PDK4_uc003unz.2_5'Flank NM_002612 NP_002603 Q16654 PDK4_HUMAN pyruvate dehydrogenase kinase 4 precursor 48 glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity 0 all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0151) CTTTCACATGCATTTTCTGAA 0.318 NA 10 25 0.000442599 0.000678458 1 0 RELN 5649 broad.mit.edu 37 7 103179606 103179606 + Missense_Mutation SNP T T C TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr7:103179606T>C uc003vca.2 - 45 7259 c.7099A>G c.(7099-7101)AGC>GGC p.S2367G RELN_uc010liz.2_Missense_Mutation_p.S2367G NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 2367 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ACGTCTGTGCTGACCACGTAA 0.542 NA 3 45 0 0 0 0 NRCAM 4897 broad.mit.edu 37 7 107880402 107880402 + Splice_Site SNP C C T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr7:107880402C>T uc003vfb.2 - 4 577 c.106_splice c.e4+1 p.P36_splice NRCAM_uc003vfc.2_Splice_Site_p.L36_splice|NRCAM_uc011kmk.1_Splice_Site_p.P31_splice|NRCAM_uc003vfd.2_Splice_Site_p.P31_splice|NRCAM_uc003vfe.2_Splice_Site_p.P31_splice NM_001037132 NP_001032209 Q92823 NRCAM_HUMAN neuronal cell adhesion molecule isoform A angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding ovary(3)|breast(2) 5 TTAATACTTACGATCAAGAGG 0.453 NA 28 42 0 0 0 0 LGI3 203190 broad.mit.edu 37 8 22009005 22009005 + Missense_Mutation SNP G G T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr8:22009005G>T uc003xav.2 - 7 1115 c.826C>A c.(826-828)CCA>ACA p.P276T LGI3_uc010ltu.2_Missense_Mutation_p.P252T NM_139278 NP_644807 Q8N145 LGI3_HUMAN leucine-rich repeat LGI family, member 3 276 EAR 2. exocytosis cell junction|extracellular region|synaptic vesicle|synaptosome ovary(1) 1 Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999) CAGGTACCTGGGATTCTATCA 0.522 NA 5 96 2.01e-06 3.17e-06 1 0 TRIM55 84675 broad.mit.edu 37 8 67039641 67039641 + Silent SNP G G T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr8:67039641G>T uc003xvv.2 + 1 364 c.138G>T c.(136-138)CTG>CTT p.L46L TRIM55_uc003xvu.2_Silent_p.L46L|TRIM55_uc003xvw.2_Silent_p.L46L|TRIM55_uc003xvx.2_Silent_p.L46L NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN tripartite motif-containing 55 isoform 1 46 RING-type. cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) AGCACAACCTGTGTAGGAAAT 0.463 NA 5 206 2.77e-08 4.48e-08 1 0 CSMD3 114788 broad.mit.edu 37 8 113304927 113304927 + Missense_Mutation SNP C C T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr8:113304927C>T uc003ynu.2 - 55 8786 c.8627G>A c.(8626-8628)GGT>GAT p.G2876D CSMD3_uc003yns.2_Missense_Mutation_p.G2078D|CSMD3_uc003ynt.2_Missense_Mutation_p.G2836D|CSMD3_uc011lhx.1_Missense_Mutation_p.G2707D NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2876 Extracellular (Potential).|Sushi 19. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 ACCAGGGTGACCACAGCTAAC 0.363 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 4 74 0 0 0 0 TAF1L 138474 broad.mit.edu 37 9 32631631 32631631 + Missense_Mutation SNP T T A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr9:32631631T>A uc003zrg.1 - 1 4037 c.3947A>T c.(3946-3948)GAA>GTA p.E1316V uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1316 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CTCCTGCTCTTCTGTCATGGC 0.428 NA 119 39 0 0 0 0 ZBTB6 10773 broad.mit.edu 37 9 125673155 125673155 + Missense_Mutation SNP C C G TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr9:125673155C>G uc004bnh.2 - 2 1286 c.1197G>C c.(1195-1197)AAG>AAC p.K399N NM_006626 NP_006617 Q15916 ZBTB6_HUMAN zinc finger and BTB domain containing 6 399 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGGTTAAGTGCTTTTTGAGAG 0.413 NA 4 37 0 0 0 0 C9orf7 11094 broad.mit.edu 37 9 136333048 136333048 + Missense_Mutation SNP C C T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr9:136333048C>T uc011mdg.1 + 4 428 c.326C>T c.(325-327)GCG>GTG p.A109V C9orf7_uc004cec.2_Missense_Mutation_p.A67V|C9orf7_uc011mdh.1_Missense_Mutation_p.A109V|C9orf7_uc011mdi.1_Missense_Mutation_p.A67V|C9orf7_uc010nan.2_RNA NM_017586 NP_060056 Q9UGQ2 FLOWR_HUMAN hypothetical protein LOC11094 isoform a 109 Helical; (Potential). integral to membrane 0 GBM - Glioblastoma multiforme(294;5.7e-39)|all cancers(34;1.83e-23)|OV - Ovarian serous cystadenocarcinoma(145;8.94e-08)|Epithelial(140;1.01e-06) CCCAGGATGGCGGTCGTTCCC 0.637 NA 36 5 0 0 0 0 NR0B1 190 broad.mit.edu 37 X 30326947 30326947 + Silent SNP C C T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chrX:30326947C>T uc004dcf.3 - 1 549 c.534G>A c.(532-534)GCG>GCA p.A178A NM_000475 NP_000466 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 178 4 X 67 AA tandem repeats.|3. adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding ovary(1)|lung(1) 2 Dexamethasone(DB01234)|Tretinoin(DB00755) CTGGCCTCTGCGCGAAGTAGG 0.677 NA OREG0019719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 9 0 0 0 0 UBQLN2 29978 broad.mit.edu 37 X 56591210 56591210 + Missense_Mutation SNP G G A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chrX:56591210G>A uc004dus.2 + 1 1139 c.904G>A c.(904-906)GGG>AGG p.G302R UBQLN2_uc011moq.1_Missense_Mutation_p.G302R NM_013444 NP_038472 Q9UHD9 UBQL2_HUMAN ubiquilin 2 302 cytoplasm|nucleus|plasma membrane binding ovary(1)|skin(1) 2 TTCCTCCTCTGGGGAAGGTAC 0.567 NA 22 25 0 0 0 0 GPRASP1 9737 broad.mit.edu 37 X 101912582 101912582 + Silent SNP T T C TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chrX:101912582T>C uc004ejj.3 + 5 4542 c.3741T>C c.(3739-3741)TAT>TAC p.Y1247Y GPRASP1_uc004eji.3_Silent_p.Y1247Y|GPRASP1_uc010nod.2_Silent_p.Y1247Y NM_014710 NP_055525 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting 1247 OPRD1-binding. cytoplasm protein binding ovary(1)|lung(1) 2 CCCTTGCTTATAGCGTGGATT 0.408 NA 27 61 0 0 0 0 MST4 51765 broad.mit.edu 37 X 131197495 131197495 + Missense_Mutation SNP G G A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chrX:131197495G>A uc004ewk.1 + 4 609 c.308G>A c.(307-309)GGC>GAC p.G103D MST4_uc004ewl.1_Missense_Mutation_p.G26D|MST4_uc011mux.1_Missense_Mutation_p.G125D|MST4_uc010nrj.1_Missense_Mutation_p.G103D|MST4_uc004ewm.1_Missense_Mutation_p.G103D NM_016542 NP_057626 Q9P289 MST4_HUMAN serine/threonine protein kinase MST4 isoform 1 103 Protein kinase. cellular component disassembly involved in apoptosis|regulation of apoptosis cytosol|Golgi membrane ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|lung(3)|stomach(2)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(192;0.000127) GAATACCTGGGCGGTGGTTCA 0.318 NA 30 64 0 0 0 0 FAM58A 92002 broad.mit.edu 37 X 152860037 152860037 + Missense_Mutation SNP G G T TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chrX:152860037G>T uc010nug.2 - 2 314 c.211C>A c.(211-213)CGC>AGC p.R71S Q8N1B3 FA58A_HUMAN RecName: Full=Cyclin-related protein FAM58B; 133 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding 0 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ACCTGGAAGCGCAGAACTCTC 0.537 NA 8 98 5.18e-06 8.13e-06 1 0 SSR4 6748 broad.mit.edu 37 X 153063240 153063240 + Missense_Mutation SNP G G A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chrX:153063240G>A uc004fiw.2 + 4 371 c.322G>A c.(322-324)GAC>AAC p.D108N SSR4_uc004fiv.2_Missense_Mutation_p.D119N NM_006280 NP_006271 P51571 SSRD_HUMAN signal sequence receptor, delta precursor 108 Lumenal (Potential). intracellular protein transport integral to membrane|Sec61 translocon complex calcium ion binding|protein binding 0 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) TAGATTCTTCGACGAGGAGTC 0.617 NA 6 15 0 0 0 0 TMPRSS3 64699 broad.mit.edu 37 21 43795867 43795873 + Frame_Shift_Del DEL GGTGTAC GGTGTAC - TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr21:43795867_43795873delGGTGTAC uc002zbb.2 - 12 1500_1506 c.1299_1305delGTACACC c.(1297-1305)GTGTACACCfs p.V433fs TMPRSS3_uc002zay.2_Frame_Shift_Del_p.V190fs|TMPRSS3_uc002zaz.2_Frame_Shift_Del_p.V306fs|TMPRSS3_uc002zba.2_Frame_Shift_Del_p.V306fs|TMPRSS3_uc002zbc.2_Frame_Shift_Del_p.V432fs NM_024022 NP_076927 P57727 TMPS3_HUMAN transmembrane protease, serine 3 isoform 1 433_435 Peptidase S1.|Extracellular (Potential). cellular sodium ion homeostasis|proteolysis endoplasmic reticulum membrane|integral to membrane scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity ovary(2)|breast(1) 3 AGGTGACACGGGTGTACACCCCAGGCT 0.628 NA 40 69 --- --- --- --- NA NA NA NA IMPDH2 3615 broad.mit.edu 37 3 49063994 49063999 + In_Frame_Del DEL TGTACT TGTACT - TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 655e502b-1a6e-4eab-a948-4120d6c31c29 4ce6601d-842c-4551-8a3e-a8892f66e1ed g.chr3:49063994_49063999delTGTACT uc003cvt.2 - 8 955_960 c.863_868delAGTACA c.(862-870)AAGTACATC>ATC p.KY288del NM_000884 NP_000875 P12268 IMDH2_HUMAN inosine monophosphate dehydrogenase 2 288_289 GMP biosynthetic process|purine base metabolic process cytosol|nucleus IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157) TTGTCTTTGATGTACTTGATCATATT 0.485 NA 7 2 --- --- --- --- NA NA NA NA